| Year |
Citation |
Score |
| 2023 |
Desroziers T, Prévot G, Coulomb A, Nau V, Dastot-Le Moal F, Duquesnoy P, Héry M, Le Borgne A, Amselem S, Legendre M, Nathan N. Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis. European Journal of Human Genetics : Ejhg. PMID 37380697 DOI: 10.1038/s41431-023-01413-w |
0.615 |
|
| 2023 |
Muñoz-Garcia J, Heymann D, Giurgea I, Legendre M, Amselem S, Castañeda B, Lézot F, William Vargas-Franco J. Pharmacological options in the treatment of osteogenesis imperfecta: a comprehensive review of clinical and potential alternatives. Biochemical Pharmacology. 115584. PMID 37148979 DOI: 10.1016/j.bcp.2023.115584 |
0.561 |
|
| 2022 |
Legendre M, Darde X, Ferreira M, Chantot-Bastaraud S, Campana M, Plantier L, Nathan N, Amselem S, Toutain A, Diot P, Marchand-Adam S. The clinical course of interstitial lung disease in an adult patient with an ABCA3 homozygous complex allele under hydroxychloroquine and a review of the literature. Sarcoidosis, Vasculitis, and Diffuse Lung Diseases : Official Journal of Wasog. 39: e2022019. PMID 36118545 DOI: 10.36141/svdld.v39i2.12730 |
0.641 |
|
| 2022 |
Louvrier C, Awad F, Cosnes A, El Khouri E, Assrawi E, Daskalopoulou A, Copin B, Bocquet H, Chantot Bastaraud S, Garcia AA, Le Moal FD, De La Grange P, Duquesnoy P, Guerrera CI, Piterboth W, ... ... Amselem S, et al. RNF213-associated urticarial lesions with hypercytokinemia. The Journal of Allergy and Clinical Immunology. PMID 35780935 DOI: 10.1016/j.jaci.2022.06.016 |
0.635 |
|
| 2022 |
Louvrier C, Awad F, Amselem S, Lipsker D, Giurgea I. Absence of NLRP3 somatic mutations and VEXAS-related UBA1 mutations in a large cohort of patients with Schnitzler syndrome. Allergy. PMID 35713654 DOI: 10.1111/all.15411 |
0.74 |
|
| 2022 |
Assrawi E, Louvrier C, El-Khouri E, Delaleu J, Copin B, Dastot-Le Moal F, Piterboth W, Legendre M, Karabina SA, Grateau G, Amselem S, Giurgea I. Mosaic variants in TNFRSF1A: An emerging cause of tumor necrosis factor receptor-associated periodic syndrome. Rheumatology (Oxford, England). PMID 35640127 DOI: 10.1093/rheumatology/keac274 |
0.581 |
|
| 2022 |
Legendre M, Thouvenin G, Taytard J, Baron M, Le Bourgeois M, Tamalet A, Mani R, Jouvion G, Amselem S, Escudier E, Beydon N. High Nasal Nitric Oxide, Cilia Analyses and Genotypes in a Retrospective Cohort of Children with Primary Ciliary Dyskinesia. Annals of the American Thoracic Society. PMID 35622418 DOI: 10.1513/AnnalsATS.202110-1175OC |
0.672 |
|
| 2022 |
Manali ED, Kannengiesser C, Borie R, Ba I, Bouros D, Markopoulou A, Antoniou K, Kolilekas L, Papaioannou AI, Tzilas V, Tzouvelekis A, Daniil Z, Fouka E, Papakosta D, Xyfteri A, ... ... Amselem S, et al. Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study. Respiration; International Review of Thoracic Diseases. 1-13. PMID 35078193 DOI: 10.1159/000520657 |
0.618 |
|
| 2022 |
Mabrouk I, Al-Harthi N, Mani R, Montantin G, Tissier S, Lagha R, Ben Abdallah F, Hassan MM, Alhomrani M, Gaber A, Alsanie WF, Ouali H, Jambi FA, Almaghamsi TM, Alqarni NA, ... ... Amselem S, et al. Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients. Journal of Human Genetics. PMID 35046476 DOI: 10.1038/s10038-021-01006-9 |
0.797 |
|
| 2020 |
Legendre M, Butt A, Borie R, Debray MP, Bouvry D, Filhol-Blin E, Desroziers T, Nau V, Copin B, Dastot-Le Moal F, Héry M, Duquesnoy P, Allou N, Bergeron A, Bermudez J, ... ... Amselem S, et al. Functional assessment and phenotypic heterogeneity of and mutations in interstitial lung diseases and lung cancer. The European Respiratory Journal. PMID 32855221 DOI: 10.1183/13993003.02806-2020 |
0.72 |
|
| 2020 |
Lepelley A, Martin-Niclós MJ, Le Bihan M, Marsh JA, Uggenti C, Rice GI, Bondet V, Duffy D, Hertzog J, Rehwinkel J, Amselem S, Boulisfane-El Khalifi S, Brennan M, Carter E, Chatenoud L, et al. Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling. The Journal of Experimental Medicine. 217. PMID 32725128 DOI: 10.1084/Jem.20200600 |
0.679 |
|
| 2020 |
Thomas L, Bouhouche K, Whitfield M, Thouvenin G, Coste A, Louis B, Szymanski C, Bequignon E, Papon JF, Castelli M, Lemullois M, Dhalluin X, Drouin-Garraud V, Montantin G, Tissier S, ... ... Amselem S, et al. TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella. American Journal of Human Genetics. PMID 31978331 DOI: 10.1016/J.Ajhg.2019.12.010 |
0.81 |
|
| 2019 |
Louvrier C, Assrawi E, El Khouri E, Melki I, Copin B, Bourrat E, Lachaume N, Cador-Rousseau B, Duquesnoy P, Piterboth W, Awad F, Jumeau C, Legendre M, Grateau G, Georgin-Lavialle S, ... ... Amselem S, et al. NLRP3-associated autoinflammatory diseases: phenotypic and molecular characteristics of germline versus somatic mutations. The Journal of Allergy and Clinical Immunology. PMID 31816408 DOI: 10.1016/J.Jaci.2019.11.035 |
0.817 |
|
| 2019 |
Borie R, Kannengiesser C, Gouya L, Dupin C, Amselem S, Ba I, Bunel V, Bonniaud P, Bouvry D, Cazes A, Clement A, Debray MP, Dieude P, Epaud R, Fanen P, et al. Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis. Orphanet Journal of Rare Diseases. 14: 280. PMID 31796085 DOI: 10.1186/S13023-019-1256-5 |
0.606 |
|
| 2019 |
Awad F, Assrawi E, Jumeau C, Odent S, Despert V, Cam G, Perdriger A, Louvrier C, Cobret L, Copin B, Chantot-Bastaraud S, Duquesnoy P, Piterboth W, Le Jeunne C, Quenum-Miraillet G, ... ... Amselem S, et al. The NLRP3 p.A441V Mutation in -AID Pathogenesis: Functional Consequences, Phenotype-Genotype Correlations and Evidence for a Recurrent Mutational Event. Acr Open Rheumatology. 1: 267-276. PMID 31777803 DOI: 10.1002/acr2.1039 |
0.807 |
|
| 2019 |
Blanchon S, Legendre M, Bottier M, Tamalet A, Montantin G, Collot N, Faucon C, Dastot F, Copin B, Clement A, Filoche M, Coste A, Amselem S, Escudier E, Papon JF, et al. Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia. Journal of Medical Genetics. PMID 31772028 DOI: 10.1136/Jmedgenet-2019-106424 |
0.74 |
|
| 2019 |
Frémond ML, Legendre M, Fayon M, Clement A, Filhol-Blin E, Richard N, Berdah L, Roullaud S, Rice GI, Bondet V, Duffy D, Sileo C, Ducou le Pointe H, Begueret H, Coulomb A, ... ... Amselem S, et al. Use of ruxolitinib in COPA syndrome manifesting as life-threatening alveolar haemorrhage. Thorax. PMID 31666386 DOI: 10.1136/Thoraxjnl-2019-213892 |
0.661 |
|
| 2019 |
Assrawi E, Louvrier C, Lepelletier C, Georgin-Lavialle S, Bouaziz JD, Awad F, Moinet F, Moguelet P, Vignon-Pennamen MD, Piterboth W, Jumeau C, Cobret L, ElKhouri E, Copin B, Duquesnoy P, ... ... Amselem S, et al. Somatic mosaic NLRP3 mutations and inflammasome activation in late-onset chronic urticaria. The Journal of Investigative Dermatology. PMID 31513803 DOI: 10.1016/J.Jid.2019.06.153 |
0.828 |
|
| 2019 |
Mani R, Belkacem S, Soua Z, Chantot S, Montantin G, Tissier S, Copin B, Bouguila J, Le Gouard NR, Boughamoura L, Ben Ameur S, Hachicha M, Boussoffara R, Boussetta K, Hammouda S, ... ... Amselem S, et al. Primary ciliary dyskinesia gene contribution in Tunisia-identification of a major Mediterranean allele. Human Mutation. PMID 31469207 DOI: 10.1002/Humu.23905 |
0.803 |
|
| 2019 |
Manali ED, Legendre M, Nathan N, Kannengiesser C, Coulomb-L'Hermine A, Tsiligiannis T, Tomos P, Griese M, Borie R, Clement A, Amselem S, Crestani B, Papiris SA. Bi-allelic missense mutations in a patient with childhood ILD who reached adulthood. Erj Open Research. 5. PMID 31360696 DOI: 10.1183/23120541.00066-2019 |
0.71 |
|
| 2019 |
Majdoub H, Amselem S, Legendre M, Rath S, Bercovich D, Tenenbaum-Rakover Y. Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due to Mutation. Frontiers in Endocrinology. 10: 381. PMID 31316460 DOI: 10.3389/Fendo.2019.00381 |
0.708 |
|
| 2019 |
Cohen E, Belkacem S, Fedala S, Collot N, Khallouf E, Dastot F, Polak M, Duquesnoy P, Brioude F, Rose S, Viot G, Soleyan A, Carel JC, Sobrier ML, Chanson P, ... ... Amselem S, et al. Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations. Human Mutation. PMID 31231873 DOI: 10.1002/Humu.23847 |
0.748 |
|
| 2019 |
Whitfield M, Thomas L, Bequignon E, Schmitt A, Stouvenel L, Montantin G, Tissier S, Duquesnoy P, Copin B, Chantot S, Dastot F, Faucon C, Barbotin AL, Loyens A, Siffroi JP, ... ... Amselem S, et al. Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia. American Journal of Human Genetics. PMID 31178125 DOI: 10.1016/J.Ajhg.2019.04.015 |
0.782 |
|
| 2019 |
Jumeau C, Awad F, Assrawi E, Cobret L, Duquesnoy P, Giurgea I, Valeyre D, Grateau G, Amselem S, Bernaudin JF, Karabina SA. Expression of SAA1, SAA2 and SAA4 genes in human primary monocytes and monocyte-derived macrophages. Plos One. 14: e0217005. PMID 31100086 DOI: 10.1371/Journal.Pone.0217005 |
0.651 |
|
| 2019 |
Bustamante-Marin XM, Yin WN, Sears PR, Werner ME, Brotslaw EJ, Mitchell BJ, Jania CM, Zeman KL, Rogers TD, Herring LE, Refabért L, Thomas L, Amselem S, Escudier E, Legendre M, et al. Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance. American Journal of Human Genetics. PMID 30665704 DOI: 10.1016/J.Ajhg.2018.12.009 |
0.761 |
|
| 2019 |
Fremond M, Lepelley A, Uggenti C, Martin-Niclos MJ, Depp M, Bondet V, Duffy D, Rice GI, Brennan M, Thumerelle C, Boulisfane S, Legendre M, Amselem S, Molina T, Nathan N, et al. Op0107 Heterozygous Mutations In Copa Are Associated With Enhanced Type I Interferon Signalling Annals of the Rheumatic Diseases. 78: 127-127. DOI: 10.1136/Annrheumdis-2019-Eular.4158 |
0.678 |
|
| 2019 |
Elhani I, Dumont A, Ardois S, Vergneault H, Savey L, Amselem S, Giurgea I, Grateau G, Georgin-Lavialle S. Association entre fièvre méditerranéenne familiale et sclérose en plaque. Série de 19 cas issus de la cohorte française et d’une revue systématique de la littérature Revue De MéDecine Interne. 40. DOI: 10.1016/J.Revmed.2019.10.101 |
0.306 |
|
| 2018 |
Normand S, Waldschmitt N, Neerincx A, Martinez-Torres RJ, Chauvin C, Couturier-Maillard A, Boulard O, Cobret L, Awad F, Huot L, Ribeiro-Ribeiro A, Lautz K, Ruez R, Delacre M, Bondu C, ... ... Amselem S, et al. Proteasomal degradation of NOD2 by NLRP12 in monocytes promotes bacterial tolerance and colonization by enteropathogens. Nature Communications. 9: 5338. PMID 30559449 DOI: 10.1038/S41467-018-07750-5 |
0.707 |
|
| 2018 |
Lorès P, Coutton C, Khouri EE, Stouvenel L, Givelet M, Thomas L, Rode B, Schmitt A, Louis B, Sakheli Z, Chaudhry M, Fernandez-Gonzales A, Mitsialis A, Dacheux D, Wolf JP, ... ... Amselem S, et al. Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia. Human Molecular Genetics. PMID 30517620 DOI: 10.1093/hmg/ddy368 |
0.616 |
|
| 2018 |
Fassad MR, Shoemark A, Legendre M, Hirst RA, Koll F, le Borgne P, Louis B, Daudvohra F, Patel MP, Thomas L, Dixon M, Burgoyne T, Hayes J, Nicholson AG, Cullup T, ... ... Amselem S, et al. Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus. American Journal of Human Genetics. PMID 30471717 DOI: 10.1016/J.Ajhg.2018.10.016 |
0.799 |
|
| 2018 |
Blum WF, Klammt J, Amselem S, Pfäffle HM, Legendre M, Sobrier ML, Luton MP, Child CJ, Jones C, Zimmermann AG, Quigley CA, Cutler GB, Deal CL, Lebl J, Rosenfeld RG, et al. Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes. Ebiomedicine. PMID 30266296 DOI: 10.1016/J.Ebiom.2018.09.026 |
0.725 |
|
| 2018 |
Lorenzon R, Mariotti-Ferrandiz E, Aheng C, Ribet C, Toumi F, Pitoiset F, Chaara W, Derian N, Johanet C, Drakos I, Harris S, Amselem S, Berenbaum F, Benveniste O, Bodaghi B, et al. Clinical and multi-omics cross-phenotyping of patients with autoimmune and autoinflammatory diseases: the observational TRANSIMMUNOM protocol. Bmj Open. 8: e021037. PMID 30166293 DOI: 10.1136/Bmjopen-2017-021037 |
0.31 |
|
| 2018 |
Awad F, Assrawi E, Louvrier C, Jumeau C, Giurgea I, Amselem S, Karabina SA. Photoaging and skin cancer: Is the inflammasome the missing link? Mechanisms of Ageing and Development. PMID 29545203 DOI: 10.1016/J.Mad.2018.03.003 |
0.667 |
|
| 2018 |
Awad F, Assrawi E, Louvrier C, Jumeau C, Georgin-Lavialle S, Grateau G, Amselem S, Giurgea I, Karabina SA. Inflammasome biology, molecular pathology and therapeutic implications. Pharmacology & Therapeutics. PMID 29466702 DOI: 10.1016/J.Pharmthera.2018.02.011 |
0.693 |
|
| 2018 |
Lorès P, Coutton C, El Khouri E, Stouvenel L, Givelet M, Thomas L, Rode B, Schmitt A, Louis B, Sakheli Z, Chaudhry M, Fernandez-Gonzales A, Mitsialis A, Dacheux D, Wolf JP, ... ... Amselem S, et al. Homozygous missense mutation L673P in Adenylate Kinase 7 (AK7) leads to primary male infertility and Multiple Morphological Anomalies of the Flagella but not to Primary Ciliary Dyskinesia. Human Molecular Genetics. PMID 29365104 DOI: 10.1093/Hmg/Ddy034 |
0.711 |
|
| 2018 |
Peycelon M, Mansour-Hendili L, Hyon C, Collot N, Houang M, Legendre M, Chabaud M, Bouvier MD, Audry G, Amselem S, Siffroi JP. Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias. Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation. PMID 29332064 DOI: 10.1159/000485909 |
0.678 |
|
| 2018 |
Khellaf G, Saidani M, Rayane T, Kaci L, Khalifa E, Amselem S, Grateau G, idir D, Benabadji M. An Algerian Family with TNF Receptor Associated Periodic Syndrome (TRAPS) Associated Amyloidosis and the p.Thr79Met Mutation Journal of Nephrology & Therapeutics. 8. DOI: 10.4172/2161-0959.1000314 |
0.423 |
|
| 2018 |
Manali ED, Nathan N, Kannengiesser C, Tomos P, Coulomb-L’Hermine A, Korkolopoulou P, Foukas PG, Kolilekas L, Kagouridis K, Maniati M, Argentos S, Korbila I, Tomos IP, Roussakis N, Kallieri M, ... ... Amselem S, et al. Lung disease caused by non-null ABCA3 mutations: long-term follow-up European Respiratory Journal. DOI: 10.1183/13993003.Congress-2018.Pa3020 |
0.659 |
|
| 2018 |
Nathan N, Legendre M, Amselem S, Clement A, Filhol-Blin E, Richard N, Roullaud S, Fayon M, Rice GI, Duffy D, Bondet V, L'Hermine AC, Neven B, Fremond M, Crow YJ. COPA syndrome restricted to life-threatening alveolar hemorrhages: clinical, pathological, molecular and biological characterization European Respiratory Journal. 52. DOI: 10.1183/13993003.Congress-2018.Pa2236 |
0.609 |
|
| 2018 |
Nathan N, Legendre M, Filhol-Blin E, Borie R, Bouvry D, Kannengiesser C, Ahmad K, Albuisson J, Allou N, Borensztajn K, Butt A, Copin B, Cottin V, Crestani B, Dalphin J, ... ... Amselem S, et al. Functional assessment of newly identified SFTPA1 and SFTPA2 mutations in patients with idiopathic interstitial pneumonia (IIP) and lung cancer European Respiratory Journal. 52. DOI: 10.1183/13993003.Congress-2018.Pa2235 |
0.658 |
|
| 2018 |
Nathan N, Legendre M, Filhol-Blin E, Borie R, Bouvry D, Afanetti M, Ahmad K, Albuisson J, Allou N, Bailly C, Borensztajn K, Butt A, Copin B, L'Hermine AC, Crestani B, ... ... Amselem S, et al. Contribution of mutations in genes of the surfactant system to idiopathic interstitial pneumonia (IIP) European Respiratory Journal. DOI: 10.1183/13993003.Congress-2018.Oa547 |
0.72 |
|
| 2017 |
Vanaken GJ, Bassinet L, Boon M, Mani R, Honoré I, Papon JF, Cuppens H, Jaspers M, Laurent N, Coste A, Escudier E, Amselem S, Maitre B, Legendre M, Christin-Maitre S. Infertility in an adult cohort with primary ciliary dyskinesia: phenotype-gene association. The European Respiratory Journal. 50. PMID 29122913 DOI: 10.1183/13993003.00314-2017 |
0.748 |
|
| 2017 |
Ryan R, Failler M, Reilly ML, Garfa-Traore M, Delous M, Filhol E, Reboul T, Bole-Feysot C, Nitschké P, Baudouin V, Amselem S, Escudier E, Legendre M, Benmerah A, Saunier S. Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies. Human Molecular Genetics. PMID 29121203 DOI: 10.1093/Hmg/Ddx396 |
0.808 |
|
| 2017 |
Juge PA, Borie R, Kannengiesser C, Gazal S, Revy P, Wemeau-Stervinou L, Debray MP, Ottaviani S, Marchand-Adam S, Nathan N, Thabut G, Richez C, Nunes H, Callebaut I, Justet A, ... ... Amselem S, et al. Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis. The European Respiratory Journal. 49. PMID 28495692 DOI: 10.1183/13993003.02314-2016 |
0.386 |
|
| 2017 |
Awad F, Assrawi E, Jumeau C, Georgin-Lavialle S, Cobret L, Duquesnoy P, Piterboth W, Thomas L, Stankovic-Stojanovic K, Louvrier C, Giurgea I, Grateau G, Amselem S, Karabina SA. Impact of human monocyte and macrophage polarization on NLR expression and NLRP3 inflammasome activation. Plos One. 12: e0175336. PMID 28403163 DOI: 10.1371/Journal.Pone.0175336 |
0.661 |
|
| 2017 |
Olcese C, Patel MP, Shoemark A, Kiviluoto S, Legendre M, Williams HJ, Vaughan CK, Hayward J, Goldenberg A, Emes RD, Munye MM, Dyer L, Cahill T, Bevillard J, Gehrig C, ... ... Amselem S, et al. X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. Nature Communications. 8: 14279. PMID 28176794 DOI: 10.1038/Ncomms14279 |
0.753 |
|
| 2017 |
Georgin-Lavialle S, Stankovic Stojanovic K, Bachmeyer C, Sellam J, Abbara S, Awad F, Miquel A, Amselem S, Grateau G, M'Bappé P. Spondyloarthritis associated with familial Mediterranean fever: successful treatment with anakinra. Rheumatology (Oxford, England). 56: 167-169. PMID 27576367 DOI: 10.1093/Rheumatology/Kew290 |
0.652 |
|
| 2017 |
Maitre B, Vanaken GJ, Bassinet L, Boon M, Mani R, Honore I, Papon JF, Cuppens H, Jaspers M, Coste A, Escudier E, Amselem S, Legendre M, Maitre SC. Hypofertility in adult patients with primary ciliary dyskinesia European Respiratory Journal. 50. DOI: 10.1183/1393003.Congress-2017.Pa4174 |
0.724 |
|
| 2017 |
Nathan N, Legendre M, Kannengiesser C, Albuisson J, Borie R, Bouvry D, Copin B, Crestani B, Dalphin J, Moal FDL, Vuyst PD, Duquesnoy P, Filhol-Blin E, Giraud V, Gomez C, ... ... Amselem S, et al. SFTPA mutations in interstitial lung disease (ILD) and lung cancer European Respiratory Journal. DOI: 10.1183/1393003.Congress-2017.Pa1516 |
0.624 |
|
| 2017 |
Juge P, Borie R, Kannengiesser C, Gazal S, Revy P, Wemeau-Stervinou L, Debray M, Ottaviani S, Marchand-Adam S, Nathan N, Thabut G, Richez C, Nunes H, Callebaut I, Justet A, ... ... Amselem S, et al. AB0007 Shared genetic predisposition in rheumatoid arthritis–interstitial lung disease and familial pulmonary fibrosis Annals of the Rheumatic Diseases. 76: 1049-1049. DOI: 10.1136/Annrheumdis-2017-Eular.5237 |
0.475 |
|
| 2017 |
Blanchon S, Legendre M, Bottier M, Tamalet A, Montantin G, Collot N, Tissier S, Faucon C, Dastot F, Copin B, Clement A, Coste A, Amselem S, Escudier E, Papon J, et al. L’analyse quantitative du mouvement ciliaire permet d’identifier le phénotype ultra-structural des dyskinésies ciliaires primitives Revue Des Maladies Respiratoires. 34: A34. DOI: 10.1016/J.Rmr.2016.10.069 |
0.727 |
|
| 2017 |
Abbara S, Georgin-Lavialle S, Stankovic Stojanovic K, Bachmeyer C, Senet P, Buob D, Audia S, Delcey V, Fellahi S, Bastard J, Awad F, Legendre M, Amselem S, Grateau G. Association d’une maladie de Verneuil à une fièvre méditerranéenne familiale : 6 cas Revue Du Rhumatisme. 84: 543-546. DOI: 10.1016/J.Rhum.2017.05.016 |
0.739 |
|
| 2016 |
Cohen E, Maghnie M, Collot N, Leger J, Dastot F, Polak M, Rose S, Touraine P, Duquesnoy P, Tauber M, Copin B, Bertrand AM, Brioude F, Larizza D, Edouard T, ... ... Amselem S, et al. Contribution of LHX4 mutations to pituitary deficits in a cohort of 417 unrelated patients. The Journal of Clinical Endocrinology and Metabolism. jc20163158. PMID 27820671 DOI: 10.1210/Jc.2016-3158 |
0.799 |
|
| 2016 |
El Khouri E, Thomas L, Jeanson L, Bequignon E, Vallette B, Duquesnoy P, Montantin G, Copin B, Dastot-Le Moal F, Blanchon S, Papon JF, Lorès P, Yuan L, Collot N, Tissier S, ... ... Amselem S, et al. Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility. American Journal of Human Genetics. 99: 489-500. PMID 27486783 DOI: 10.1016/J.Ajhg.2016.06.022 |
0.815 |
|
| 2016 |
Abbara S, Georgin-Lavialle S, Stankovic Stojanovic K, Bachmeyer C, Senet P, Buob D, Audia S, Delcey V, Fellahi S, Bastard JP, Awad F, Legendre M, Amselem S, Grateau G. Association of hidradenitis suppurativa and familial Mediterranean fever: A case series of 6 patients. Joint, Bone, Spine : Revue Du Rhumatisme. PMID 27238193 DOI: 10.1016/J.Jbspin.2016.02.021 |
0.771 |
|
| 2016 |
Jeanson L, Thomas L, Copin B, Coste A, Sermet-Gaudelus I, Moal FD, Duquesnoy P, Montantin G, Collot N, Tissier S, Papon JF, Clement A, Louis B, Escudier E, Amselem S, et al. Mutations in GAS8, A Gene Encoding A Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia With Axonemal Disorganization. Human Mutation. PMID 27120127 DOI: 10.1002/Humu.23005 |
0.811 |
|
| 2016 |
Masters SL, Lagou V, Jéru I, Baker PJ, Van Eyck L, Parry DA, Lawless D, De Nardo D, Garcia-Perez JE, Dagley LF, Holley CL, Dooley J, Moghaddas F, Pasciuto E, Jeandel PY, ... ... Amselem S, et al. Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation. Science Translational Medicine. 8: 332ra45. PMID 27030597 DOI: 10.1126/Scitranslmed.Aaf1471 |
0.725 |
|
| 2016 |
Nathan N, Giraud V, Picard C, Nunes H, Dastot-Le Moal F, Copin B, Galeron L, De Ligniville A, Kuziner N, Reynaud-Gaubert M, Valeyre D, Couderc LJ, Chinet T, Borie R, Crestani B, ... ... Amselem S, et al. Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer. Human Molecular Genetics. 25: 1457-67. PMID 26792177 DOI: 10.1183/13993003.Congress-2016.Oa481 |
0.653 |
|
| 2016 |
Blanchon S, Legendre M, Coste A, Beydon N, Amselem S, Escudier E, Papon J. Dyskinésies ciliaires primitives : actualités diagnostiques Revue FrançAise D'Allergologie. 56: 209-211. DOI: 10.1016/J.Reval.2016.01.014 |
0.697 |
|
| 2016 |
Abbara S, Georgin-Lavialle S, Katia SS, Bachmeyer C, Senet P, Buob D, Audia S, Delcey V, Fellahi S, Bastard JP, Awad F, Legendre M, Amselem S, Grateau G. Association of hidradenitis suppurativa and familial Mediterranean fever: A case series of 6 patients Joint Bone Spine. DOI: 10.1016/j.jbspin.2016.02.021 |
0.756 |
|
| 2015 |
Sobrier ML, Tsai YC, Pérez C, Leheup B, Bouceba T, Duquesnoy P, Copin B, Sizova D, Penzo A, Stanger BZ, Cooke NE, Liebhaber SA, Amselem S. Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency (IGHD): a novel etiology for IGHD. Human Molecular Genetics. PMID 26612202 DOI: 10.1093/Hmg/Ddv486 |
0.838 |
|
| 2015 |
Edwards M, Brescianini S, Allgood C, Freelander M, Dunstan R, Patradoon-Ho P, Chin R, Morgan L, Pervez T, Legendre M, Burgess T, Amselem S, Whitehall J. Syndrome diagnosis with single-nucleotide polymorphism (SNP) microarray. Journal of Paediatrics and Child Health. PMID 26228624 DOI: 10.1111/Jpc.12981 |
0.593 |
|
| 2015 |
Awad F, Georgin-Lavialle S, Brignier A, Derrieux C, Aouba A, Stankovic-Stojanovic K, Grateau G, Amselem S, Hermine O, Karabina SA. Chronic myelomonocytic leukemia as a cause of fatal uncontrolled inflammation in familial Mediterranean fever. Orphanet Journal of Rare Diseases. 10: 76. PMID 26076658 DOI: 10.1186/1546-0096-13-S1-P177 |
0.724 |
|
| 2015 |
Jeanson L, Copin B, Papon JF, Dastot-Le Moal F, Duquesnoy P, Montantin G, Cadranel J, Corvol H, Coste A, Désir J, Souayah A, Kott E, Collot N, Tissier S, Louis B, ... ... Amselem S, et al. RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. American Journal of Human Genetics. 97: 153-62. PMID 26073779 DOI: 10.1016/J.Ajhg.2015.05.004 |
0.829 |
|
| 2015 |
Lazea C, Grigorescu-Sido P, Popp R, Legendre M, Amselem S, Al-Khzouz C, Bucerzan S, Creţ V, Crişan M, Brad C. The c.301_302delAG PROP1 gene mutation in Romanian patients with multiple pituitary hormone deficiency. Journal of Pediatric Endocrinology & Metabolism : Jpem. 28: 993-8. PMID 25581745 DOI: 10.1515/Jpem-2014-0289 |
0.706 |
|
| 2015 |
Fritez N, Sobrier ML, Iraqi H, Vié-Luton MP, Netchine I, El Annas A, Pantel J, Collot N, Rose S, Piterboth W, Legendre M, Chraibi A, Amselem S, Kadiri A, Hilal L. Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism. Clinical Endocrinology. 82: 876-84. PMID 25557026 DOI: 10.1111/Cen.12706 |
0.738 |
|
| 2015 |
Jéru I, Van Eyck L, Lagou V, Ruuth-Praz J, Copin B, Cochet E, Liston A, Goris A, Amselem S, Wouters C. A heterozygous variant in MEFV in a familial autoinflammatory syndrome with PAPA-like features Pediatric Rheumatology. 13. DOI: 10.1186/1546-0096-13-S1-P68 |
0.498 |
|
| 2015 |
Abbara S, Fain O, Saadoun D, Bachmeyer C, Mekininan A, Stankovic Stojanovic K, Mouthon L, Gilardin L, Amselem S, Grateau G, Georgin-Lavialle S. Vasculitis associated with familial Mediterranean fever: a study on 16 french adult cases Pediatric Rheumatology. 13: P128. DOI: 10.1186/1546-0096-13-S1-P128 |
0.39 |
|
| 2015 |
Abbara S, Georgin-Lavialle S, Grateau G, Bachmeyer C, Buob D, Senet P, Audia S, Delcey V, Steichen O, Bastard J, Fellahi S, Amselem S, Stankovic Stojanovic K. Hidradenitis suppurativa and familial Mediterranean fever: a report of 6 cases and literature review Pediatric Rheumatology. 13: P105. DOI: 10.1186/1546-0096-13-S1-P105 |
0.315 |
|
| 2015 |
Tabeze L, Borie R, Cottin V, Nathan N, Nunes H, Naccache JM, Valeyre D, Cadranel J, Amselem S, Tazi A, Israel-Biet D, Marchand-Adam S, Prevot G, Gaubert MR, Clement A, et al. Prévalence de mutations identifiées dans les suspicions de formes génétiques de fibroses Revue Des Maladies Respiratoires. 32. DOI: 10.1016/J.Rmr.2014.11.054 |
0.371 |
|
| 2014 |
Ratbi I, Fejjal N, Legendre M, Collot N, Amselem S, Sefiani A. Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report. Journal of Medical Case Reports. 8: 471. PMID 25547932 DOI: 10.1186/1752-1947-8-471 |
0.7 |
|
| 2014 |
Jeanson L, Guerrera IC, Papon JF, Chhuon C, Zadigue P, Prulière-Escabasse V, Amselem S, Escudier E, Coste A, Edelman A. Proteomic analysis of nasal epithelial cells from cystic fibrosis patients. Plos One. 9: e108671. PMID 25268127 DOI: 10.1371/Journal.Pone.0108671 |
0.586 |
|
| 2014 |
Jéru I, Cochet E, Duquesnoy P, Hentgen V, Copin B, Mitjavila-Garcia MT, Sheykholeslami S, Le Borgne G, Dastot-Le Moal F, Malan V, Karabina S, Mahevas M, Chantot-Bastaraud S, Lecron JC, Faivre L, ... Amselem S, et al. Brief Report: Involvement of TNFRSF11A molecular defects in autoinflammatory disorders. Arthritis & Rheumatology (Hoboken, N.J.). 66: 2621-7. PMID 24891336 DOI: 10.1002/Art.38727 |
0.692 |
|
| 2014 |
Mory A, Dagan E, Shahor I, Mandel H, Illi B, Zolotushko J, Kurolap A, Chechik E, Valente EM, Amselem S, Gershoni-Baruch R. Kohlschutter-tonz syndrome: Clinical and genetic insights gained from 16 cases deriving from a close-knit village in Northern Israel Pediatric Neurology. 50: 421-426. PMID 24630287 DOI: 10.1016/J.Pediatrneurol.2014.01.006 |
0.473 |
|
| 2013 |
Bakouh N, Bienvenu T, Thomas A, Ehrenfeld J, Liote H, Roussel D, Duquesnoy P, Farman N, Viel M, Cherif-Zahar B, Amselem S, Taam RA, Edelman A, Planelles G, Sermet-Gaudelus I. Characterization of SLC26A9 in patients with CF-like lung disease. Human Mutation. 34: 1404-14. PMID 24272871 DOI: 10.1002/Humu.22382 |
0.435 |
|
| 2013 |
Kott E, Legendre M, Copin B, Papon JF, Dastot-Le Moal F, Montantin G, Duquesnoy P, Piterboth W, Amram D, Bassinet L, Beucher J, Beydon N, Deneuville E, Houdouin V, Journel H, ... ... Amselem S, et al. Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. American Journal of Human Genetics. 93: 561-70. PMID 23993197 DOI: 10.1016/J.Ajhg.2013.07.013 |
0.841 |
|
| 2013 |
Jéru I, Charmion S, Cochet E, Copin B, Duquesnoy P, Garcia MT, Le Borgne G, Cathebras P, Gaillat J, Karabina S, Dodé C, Lohse P, Hentgen V, Amselem S. Involvement of the same TNFR1 residue in mendelian and multifactorial inflammatory disorders. Plos One. 8: e69757. PMID 23894535 DOI: 10.1371/Journal.Pone.0069757 |
0.742 |
|
| 2013 |
Zariwala MA, Gee HY, Kurkowiak M, Al-Mutairi DA, Leigh MW, Hurd TW, Hjeij R, Dell SD, Chaki M, Dougherty GW, Adan M, Spear PC, Esteve-Rudd J, Loges NT, Rosenfeld M, ... ... Amselem S, et al. ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. American Journal of Human Genetics. 93: 336-45. PMID 23891469 DOI: 10.1016/J.Ajhg.2013.06.007 |
0.514 |
|
| 2013 |
Jéru I, Hentgen V, Cochet E, Duquesnoy P, Le Borgne G, Grimprel E, Stojanovic KS, Karabina S, Grateau G, Amselem S. The risk of familial Mediterranean fever in MEFV heterozygotes: a statistical approach. Plos One. 8: e68431. PMID 23844200 DOI: 10.1371/Journal.Pone.0068431 |
0.755 |
|
| 2013 |
Grateau G, Hentgen V, Stojanovic KS, Jéru I, Amselem S, Steichen O. How should we approach classification of autoinflammatory diseases? Nature Reviews. Rheumatology. 9: 624-9. PMID 23838615 DOI: 10.1038/Nrrheum.2013.101 |
0.655 |
|
| 2013 |
Vallet C, Escudier E, Roudot-Thoraval F, Blanchon S, Fauroux B, Beydon N, Boulé M, Vojtek AM, Amselem S, Clément A, Tamalet A. Primary ciliary dyskinesia presentation in 60 children according to ciliary ultrastructure. European Journal of Pediatrics. 172: 1053-60. PMID 23571820 DOI: 10.1007/S00431-013-1996-5 |
0.604 |
|
| 2013 |
Hentgen V, Grateau G, Stankovic-Stojanovic K, Amselem S, Jéru I. Familial Mediterranean fever in heterozygotes: are we able to accurately diagnose the disease in very young children? Arthritis and Rheumatism. 65: 1654-62. PMID 23508419 DOI: 10.1002/Art.37935 |
0.741 |
|
| 2013 |
Becker NS, Verdu P, Georges M, Duquesnoy P, Froment A, Amselem S, Le Bouc Y, Heyer E. The role of GHR and IGF1 genes in the genetic determination of African pygmies' short stature. European Journal of Human Genetics : Ejhg. 21: 653-8. PMID 23047741 DOI: 10.1038/Ejhg.2012.223 |
0.351 |
|
| 2013 |
Babikyan D, Jeru I, Copin B, Hayrapetyan H, Amselem S, Sarkisian T. PW01-032 – FMF-like state: genetic factors unrelated to MEFV Pediatric Rheumatology. 11. DOI: 10.1186/1546-0096-11-S1-A85 |
0.516 |
|
| 2013 |
Jéru I, Cochet E, Duquesnoy P, Hentgen V, Copin B, Mitjavila-Garcia M, Sheykholeslami S, Borgne GL, Dastot F, Karabina S, Mahevas M, Chantot-Bastaraud S, Faivre L, Amselem S. OR13-003 - TNFRSF11A molecular defects cause autoinflammatory disorders Pediatric Rheumatology. 11: 1-1. DOI: 10.1186/1546-0096-11-S1-A265 |
0.66 |
|
| 2013 |
Jéru I, Hentgen V, Cochet E, Duquesnoy P, Borgne GL, Grimprel E, Stojanovic KS, Karabina S, Grateau G, Amselem S. OR2-002 – The risk of FMF in MEFV heterozygotes Pediatric Rheumatology. 11: 1-1. DOI: 10.1186/1546-0096-11-S1-A2 |
0.756 |
|
| 2013 |
Jéru I, Charmion S, Cochet E, Copin B, Le Borgne G, Cathebras P, Gaillat J, Duquesnoy P, Karabina S, Hentgen V, Amselem S. P02-014 - Consequences of Arginine 92 mutations in TNFR1 Pediatric Rheumatology. 11. DOI: 10.1186/1546-0096-11-S1-A121 |
0.749 |
|
| 2012 |
Kott E, Duquesnoy P, Copin B, Legendre M, Dastot-Le Moal F, Montantin G, Jeanson L, Tamalet A, Papon JF, Siffroi JP, Rives N, Mitchell V, de Blic J, Coste A, Clement A, ... ... Amselem S, et al. Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia. American Journal of Human Genetics. 91: 958-64. PMID 23122589 DOI: 10.1016/J.Ajhg.2012.10.003 |
0.827 |
|
| 2012 |
Papon JF, Bassinet L, Cariou-Patron G, Zerah-Lancner F, Vojtek AM, Blanchon S, Crestani B, Amselem S, Coste A, Housset B, Escudier E, Louis B. Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study. Orphanet Journal of Rare Diseases. 7: 78. PMID 23057704 DOI: 10.1186/2046-2530-1-S1-O3 |
0.594 |
|
| 2012 |
Blanchon S, Legendre M, Copin B, Duquesnoy P, Montantin G, Kott E, Dastot F, Jeanson L, Cachanado M, Rousseau A, Papon JF, Beydon N, Brouard J, Crestani B, Deschildre A, ... ... Amselem S, et al. Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. Journal of Medical Genetics. 49: 410-6. PMID 22693285 DOI: 10.1186/2046-2530-1-S1-P91 |
0.834 |
|
| 2012 |
Pérez C, Dastot-Le Moal F, Collot N, Legendre M, Abadie I, Bertrand AM, Amselem S, Sobrier ML. Screening of LHX2 in patients presenting growth retardation with posterior pituitary and ocular abnormalities. European Journal of Endocrinology / European Federation of Endocrine Societies. 167: 85-91. PMID 22535646 DOI: 10.1530/Eje-12-0026 |
0.683 |
|
| 2012 |
Mory A, Dagan E, Illi B, Duquesnoy P, Mordechai S, Shahor I, Romani S, Hawash-Moustafa N, Mandel H, Valente EM, Amselem S, Gershoni-Baruch R. A nonsense mutation in the human homolog of drosophila rogdi causes Kohlschutter-Tonz syndrome American Journal of Human Genetics. 90: 708-714. PMID 22482807 DOI: 10.1016/J.Ajhg.2012.03.005 |
0.439 |
|
| 2012 |
Sobrier ML, Brachet C, Vié-Luton MP, Perez C, Copin B, Legendre M, Heinrichs C, Amselem S. Symptomatic heterozygotes and prenatal diagnoses in a nonconsanguineous family with syndromic combined pituitary hormone deficiency resulting from two novel LHX3 mutations. The Journal of Clinical Endocrinology and Metabolism. 97: E503-9. PMID 22238406 DOI: 10.1210/Jc.2011-2095 |
0.829 |
|
| 2012 |
Delahaye A, Bitoun P, Drunat S, Gérard-Blanluet M, Chassaing N, Toutain A, Verloes A, Gatelais F, Legendre M, Faivre L, Passemard S, Aboura A, Kaltenbach S, Quentin S, Dupont C, ... ... Amselem S, et al. Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies. European Journal of Human Genetics : Ejhg. 20: 527-33. PMID 22234157 DOI: 10.1038/Ejhg.2011.233 |
0.655 |
|
| 2012 |
Jeanson L, Kelly M, Coste A, Guerrera IC, Fritsch J, Nguyen-Khoa T, Baudouin-Legros M, Papon JF, Zadigue P, Prulière-Escabasse V, Amselem S, Escudier E, Edelman A. Oxidative stress induces unfolding protein response and inflammation in nasal polyposis. Allergy. 67: 403-12. PMID 22188019 DOI: 10.1111/J.1398-9995.2011.02769.X |
0.567 |
|
| 2012 |
Flamein F, Riffault L, Muselet-Charlier C, Pernelle J, Feldmann D, Jonard L, Durand-Schneider AM, Coulomb A, Maurice M, Nogee LM, Inagaki N, Amselem S, Dubus JC, Rigourd V, Brémont F, et al. Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children. Human Molecular Genetics. 21: 765-75. PMID 22068586 DOI: 10.1093/Hmg/Ddr508 |
0.517 |
|
| 2012 |
Peycelon M, Frade F, Hyon C, Legendre M, Collot N, Dastot-le Moal F, Soleyan C, Chantot-Bastaraud S, Grapin-Dagorno C, Audry G, Amselem S, Siffroi J. Profil germinal et somatique du gène AR dans l’hypospadias ProgrèS En Urologie. 22: 758. DOI: 10.1016/J.Purol.2012.08.042 |
0.566 |
|
| 2011 |
Jéru I, Le Borgne G, Cochet E, Hayrapetyan H, Duquesnoy P, Grateau G, Morali A, Sarkisian T, Amselem S. Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes. Arthritis and Rheumatism. 63: 1459-64. PMID 21538323 DOI: 10.1002/Art.30241 |
0.75 |
|
| 2011 |
Tenenbaum-Rakover Y, Sobrier ML, Amselem S. A novel POU1F1 mutation (p.Thr168IlefsX7) associated with an early and severe form of combined pituitary hormone deficiency: functional analysis and follow-up from infancy to adulthood. Clinical Endocrinology. 75: 214-9. PMID 21521297 DOI: 10.1111/J.1365-2265.2011.04028.X |
0.487 |
|
| 2011 |
Jéru I, Hentgen V, Normand S, Duquesnoy P, Cochet E, Delwail A, Grateau G, Marlin S, Amselem S, Lecron JC. Role of interleukin-1β in NLRP12-associated autoinflammatory disorders and resistance to anti-interleukin-1 therapy. Arthritis and Rheumatism. 63: 2142-8. PMID 21480187 DOI: 10.1002/Art.30378 |
0.641 |
|
| 2011 |
Merveille AC, Davis EE, Becker-Heck A, Legendre M, Amirav I, Bataille G, Belmont J, Beydon N, Billen F, Clément A, Clercx C, Coste A, Crosbie R, de Blic J, Deleuze S, ... ... Amselem S, et al. CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nature Genetics. 43: 72-8. PMID 21131972 DOI: 10.1038/Ng.726 |
0.798 |
|
| 2011 |
Cuisset L, Jeru I, Dumont B, Fabre A, Cochet E, Le Bozec J, Delpech M, Amselem S, Touitou I. Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France. Annals of the Rheumatic Diseases. 70: 495-9. PMID 21109514 DOI: 10.1136/Ard.2010.138420 |
0.732 |
|
| 2011 |
Hentgen V, Stojanovic KS, Grateau G, Amselem S, Jeru I. FMF in heterozygotes: are we able to accurately diagnose the disease in very young children? Pediatric Rheumatology. 9. DOI: 10.1186/1546-0096-9-S1-P17 |
0.668 |
|
| 2010 |
Sıklar Z, Berberoğlu M, Legendre M, Amselem S, Evliyaoğlu O, Hacıhamdioğlu B, Savaş Erdeve S, Oçal G. Two siblings with isolated GH deficiency due to loss-of-function mutation in the GHRHR gene: successful treatment with growth hormone despite late admission and severe growth retardation. Journal of Clinical Research in Pediatric Endocrinology. 2: 164-7. PMID 21274317 DOI: 10.4274/jcrpe.v2i4.164 |
0.338 |
|
| 2010 |
Jéru I, Amselem S. [Inflammasome and interleukin 1]. La Revue De Medecine Interne. 32: 218-24. PMID 20541850 DOI: 10.1016/J.Revmed.2010.02.013 |
0.399 |
|
| 2010 |
Jéru I, Marlin S, Le Borgne G, Cochet E, Normand S, Duquesnoy P, Dastot-Le Moal F, Cuisset L, Hentgen V, Fernandes Alnemri T, Lecron JC, Dhote R, Grateau G, Alnemri ES, Amselem S. Functional consequences of a germline mutation in the leucine-rich repeat domain of NLRP3 identified in an atypical autoinflammatory disorder. Arthritis and Rheumatism. 62: 1176-85. PMID 20131254 DOI: 10.1002/Art.27326 |
0.714 |
|
| 2009 |
Duquesnoy P, Escudier E, Vincensini L, Freshour J, Bridoux AM, Coste A, Deschildre A, de Blic J, Legendre M, Montantin G, Tenreiro H, Vojtek AM, Loussert C, Clément A, Escalier D, ... ... Amselem S, et al. Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia. American Journal of Human Genetics. 85: 890-6. PMID 19944405 DOI: 10.1016/J.Ajhg.2009.11.008 |
0.807 |
|
| 2009 |
Jéru I, Hayrapetyan H, Duquesnoy P, Cochet E, Serre JL, Feingold J, Grateau G, Sarkisian T, Jeanpierre M, Amselem S. Involvement of the modifier gene of a human Mendelian disorder in a negative selection process. Plos One. 4: e7676. PMID 19888326 DOI: 10.1371/Journal.Pone.0007676 |
0.408 |
|
| 2009 |
Papon JF, Coste A, Roudot-Thoraval F, Boucherat M, Roger G, Tamalet A, Vojtek AM, Amselem S, Escudier E. A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia. The European Respiratory Journal. 35: 1057-63. PMID 19840971 DOI: 10.1183/09031936.00046209 |
0.619 |
|
| 2009 |
Pantel J, Legendre M, Nivot S, Morisset S, Vie-Luton MP, le Bouc Y, Epelbaum J, Amselem S. Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor. The Journal of Clinical Endocrinology and Metabolism. 94: 4334-41. PMID 19789204 DOI: 10.1210/Jc.2009-1327 |
0.675 |
|
| 2009 |
Escudier E, Duquesnoy P, Papon JF, Amselem S. Ciliary defects and genetics of primary ciliary dyskinesia. Paediatric Respiratory Reviews. 10: 51-4. PMID 19410201 DOI: 10.1016/J.Prrv.2009.02.001 |
0.677 |
|
| 2009 |
Jeanson L, Guerrera C, Baudouin-Legros M, Amselem S, Coste A, Escudier E, Edelman A. Expression of Unfolded Protein Response (UPR) protein markers are increased in primary and cystic fibrosis (CF) nasal polyposis (NP) Journal of Cystic Fibrosis. 8: S22. DOI: 10.1016/S1569-1993(09)60090-4 |
0.516 |
|
| 2008 |
Hilal L, Hajaji Y, Vie-Luton MP, Ajaltouni Z, Benazzouz B, Chana M, Chraïbi A, Kadiri A, Amselem S, Sobrier ML. Unusual phenotypic features in a patient with a novel splice mutation in the GHRHR gene. Molecular Medicine (Cambridge, Mass.). 14: 286-92. PMID 18297129 DOI: 10.2119/2007-00128.Hilal |
0.471 |
|
| 2008 |
Jéru I, Duquesnoy P, Fernandes-Alnemri T, Cochet E, Yu JW, Lackmy-Port-Lis M, Grimprel E, Landman-Parker J, Hentgen V, Marlin S, McElreavey K, Sarkisian T, Grateau G, Alnemri ES, Amselem S. Mutations in NALP12 cause hereditary periodic fever syndromes. Proceedings of the National Academy of Sciences of the United States of America. 105: 1614-9. PMID 18230725 DOI: 10.1073/Pnas.0708616105 |
0.525 |
|
| 2008 |
Iughetti L, Sobrier ML, Predieri B, Netchine I, Carani C, Bernasconi S, Balli F, Amselem S. Complex disease phenotype revealed by GH deficiency associated with a novel and unusual defect in the GH-1 gene. Clinical Endocrinology. 69: 170-2. PMID 18088397 DOI: 10.1111/J.1365-2265.2007.03157.X |
0.643 |
|
| 2007 |
Zhang Z, Zariwala MA, Mahadevan MM, Caballero-Campo P, Shen X, Escudier E, Duriez B, Bridoux AM, Leigh M, Gerton GL, Kennedy M, Amselem S, Knowles MR, Strauss JF. A heterozygous mutation disrupting the SPAG16 gene results in biochemical instability of central apparatus components of the human sperm axoneme Biology of Reproduction. 77: 864-871. PMID 17699735 DOI: 10.1095/Biolreprod.107.063206 |
0.677 |
|
| 2007 |
Fang P, Riedl S, Amselem S, Pratt KL, Little BM, Haeusler G, Hwa V, Frisch H, Rosenfeld RG. Primary Growth Hormone (GH) insensitivity and insulin-like growth factor deficiency caused by novel compound heterozygous mutations of the GH receptor gene: Genetic and functional studies of simple and compound heterozygous states Journal of Clinical Endocrinology and Metabolism. 92: 2223-2231. PMID 17405847 DOI: 10.1210/Jc.2006-2624 |
0.46 |
|
| 2007 |
Duriez B, Duquesnoy P, Escudier E, Bridoux AM, Escalier D, Rayet I, Marcos E, Vojtek AM, Bercher JF, Amselem S. A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia. Proceedings of the National Academy of Sciences of the United States of America. 104: 3336-41. PMID 17360648 DOI: 10.1073/Pnas.0611405104 |
0.712 |
|
| 2006 |
Sobrier ML, Maghnie M, Vié-Luton MP, Secco A, di Iorgi N, Lorini R, Amselem S. Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities. The Journal of Clinical Endocrinology and Metabolism. 91: 4528-36. PMID 16940453 DOI: 10.1210/Jc.2006-0426 |
0.421 |
|
| 2006 |
Blum WF, Machinis K, Shavrikova EP, Keller A, Stobbe H, Pfaeffle RW, Amselem S. The growth response to growth hormone (GH) treatment in children with isolated GH deficiency is independent of the presence of the exon 3-minus isoform of the GH receptor. The Journal of Clinical Endocrinology and Metabolism. 91: 4171-4. PMID 16868057 DOI: 10.1210/Jc.2006-0063 |
0.782 |
|
| 2006 |
Zariwala MA, Leigh MW, Ceppa F, Kennedy MP, Noone PG, Carson JL, Hazucha MJ, Lori A, Horvath J, Olbrich H, Loges NT, Bridoux AM, Pennarun G, Duriez B, Escudier E, ... ... Amselem S, et al. Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. American Journal of Respiratory and Critical Care Medicine. 174: 858-66. PMID 16858015 DOI: 10.1164/Rccm.200603-370Oc |
0.842 |
|
| 2006 |
Gérard-Blanluet M, Sheen V, Machinis K, Neal J, Apse K, Danan C, Sinico M, Brugières P, Mage K, Ratsimbazafy L, Elbez A, Janaud JC, Amselem S, Walsh C, Encha-Razavi F. Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected males. American Journal of Medical Genetics. Part A. 140: 1041-6. PMID 16596669 DOI: 10.1002/Ajmg.A.31197 |
0.812 |
|
| 2006 |
Pantel J, Legendre M, Cabrol S, Hilal L, Hajaji Y, Morisset S, Nivot S, Vie-Luton MP, Grouselle D, de Kerdanet M, Kadiri A, Epelbaum J, Le Bouc Y, Amselem S. Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature. The Journal of Clinical Investigation. 116: 760-8. PMID 16511605 DOI: 10.1172/Jci25303 |
0.678 |
|
| 2006 |
Jéru I, Hayrapetyan H, Duquesnoy P, Sarkisian T, Amselem S. PYPAF1 nonsense mutation in a patient with an unusual autoinflammatory syndrome: role of PYPAF1 in inflammation. Arthritis and Rheumatism. 54: 508-14. PMID 16447225 DOI: 10.1002/Art.21618 |
0.495 |
|
| 2006 |
Tchernitchko DO, Gérard-Blanluet M, Legendre M, Cazeneuve C, Grateau G, Amselem S. Intrafamilial segregation analysis of the p.E148Q MEFV allele in familial Mediterranean fever. Annals of the Rheumatic Diseases. 65: 1154-7. PMID 16439437 DOI: 10.1136/Ard.2005.048124 |
0.807 |
|
| 2005 |
Tchernitchko D, Moutereau S, Legendre M, Delahaye A, Cazeneuve C, Lacombe C, Grateau G, Amselem S. MEFV analysis is of particularly weak diagnostic value for recurrent fevers in Western European Caucasian patients. Arthritis and Rheumatism. 52: 3603-5. PMID 16255051 DOI: 10.1002/Art.21408 |
0.77 |
|
| 2005 |
Moore A, Escudier E, Roger G, Tamalet A, Pelosse B, Marlin S, Clément A, Geremek M, Delaisi B, Bridoux AM, Coste A, Witt M, Duriez B, Amselem S. RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa. Journal of Medical Genetics. 43: 326-33. PMID 16055928 DOI: 10.1136/Jmg.2005.034868 |
0.691 |
|
| 2005 |
Machinis K, Amselem S. Functional relationship between LHX4 and POU1F1 in light of the LHX4 mutation identified in patients with pituitary defects. The Journal of Clinical Endocrinology and Metabolism. 90: 5456-62. PMID 15998782 DOI: 10.1210/Jc.2004-2332 |
0.834 |
|
| 2005 |
Jéru I, Papin S, L'hoste S, Duquesnoy P, Cazeneuve C, Camonis J, Amselem S. Interaction of pyrin with 14.3.3 in an isoform-specific and phosphorylation-dependent manner regulates its translocation to the nucleus. Arthritis and Rheumatism. 52: 1848-57. PMID 15934090 DOI: 10.1002/Art.21050 |
0.78 |
|
| 2005 |
Sobrier ML, Netchine I, Heinrichs C, Thibaud N, Vié-Luton MP, Van Vliet G, Amselem S. Alu-element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitary. Human Mutation. 25: 503. PMID 15841484 DOI: 10.1002/Humu.9332 |
0.67 |
|
| 2005 |
Grateau G, Jéru I, Rouaghe S, Cazeneuve C, Ravet N, Duquesnoy P, Cuisset L, Dodé C, Delpech M, Amselem S. Amyloidosis and auto-inflammatory syndromes. Current Drug Targets. Inflammation and Allergy. 4: 57-65. PMID 15720237 DOI: 10.2174/1568010053622786 |
0.776 |
|
| 2005 |
Moore A, Amselem S, Duriez B, Escudier E. [Molecular basis of the primary ciliary dyskinesias]. Revue Des Maladies Respiratoires. 21: 521-6. PMID 15292844 DOI: 10.1016/S0761-8425(04)71356-X |
0.616 |
|
| 2004 |
Sobrier ML, Attié-Bitach T, Netchine I, Encha-Razavi F, Vekemans M, Amselem S. Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development. Gene Expression Patterns : Gep. 5: 279-84. PMID 15567726 DOI: 10.1016/J.Modgep.2004.07.003 |
0.665 |
|
| 2004 |
Cazeneuve C, Papin S, Jéru I, Duquesnoy P, Amselem S. Subcellular localisation of marenostrin/pyrin isoforms carrying the most common mutations involved in familial Mediterranean fever in the presence or absence of its binding partner ASC. Journal of Medical Genetics. 41: e24. PMID 14985395 DOI: 10.1136/Jmg.2003.011601 |
0.849 |
|
| 2003 |
Tchernitchko D, Legendre M, Delahaye A, Cazeneuve C, Niel F, Goossens M, Amselem S, Girodon E. Clinical evaluation of a reverse hybridization assay for the molecular detection of twelve MEFV gene mutations. Clinical Chemistry. 49: 1942-5. PMID 14578331 DOI: 10.1373/Clinchem.2003.021212 |
0.82 |
|
| 2003 |
Papin S, Cazeneuve C, Duquesnoy P, Jeru I, Sahali D, Amselem S. The tumor necrosis factor alpha-dependent activation of the human mediterranean fever (MEFV) promoter is mediated by a synergistic interaction between C/EBP beta and NF kappaB p65. The Journal of Biological Chemistry. 278: 48839-47. PMID 14514692 DOI: 10.1074/Jbc.M305166200 |
0.803 |
|
| 2003 |
Tchernitchko D, Legendre M, Cazeneuve C, Delahaye A, Niel F, Amselem S. The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever. Human Mutation. 22: 339-40. PMID 12955725 DOI: 10.1002/Humu.9182 |
0.814 |
|
| 2003 |
Cazeneuve C, Geneviève D, Amselem S, Hentgen V, Hau I, Reinert P. MEFV gene analysis in PFAPA. The Journal of Pediatrics. 143: 140-1. PMID 12915843 DOI: 10.1016/S0022-3476(03)00259-2 |
0.621 |
|
| 2003 |
Cazeneuve C, Hovannesyan Z, Geneviève D, Hayrapetyan H, Papin S, Girodon-Boulandet E, Boissier B, Feingold J, Atayan K, Sarkisian T, Amselem S. Familial Mediterranean fever among patients from Karabakh and the diagnostic value of MEFV gene analysis in all classically affected populations. Arthritis and Rheumatism. 48: 2324-31. PMID 12905488 DOI: 10.1002/Art.11102 |
0.816 |
|
| 2003 |
Wajnrajch MP, Gertner JM, Sokoloff AS, Ten I, Harbison MD, Netchine I, Maheshwari HG, Goldstein DB, Amselem S, Baumann G, Leibel RL. Haplotype analysis of the growth hormone releasing hormone receptor locus in three apparently unrelated kindreds from the Indian subcontinent with the identical mutation in the GHRH receptor American Journal of Medical Genetics. 120: 77-83. PMID 12794696 DOI: 10.1002/Ajmg.A.10209 |
0.691 |
|
| 2003 |
Pantel J, Grulich-Henn J, Bettendorf M, Strasburger CJ, Heinrich U, Amselem S. Heterozygous nonsense mutation in exon 3 of the growth hormone receptor (GHR) in severe GH insensitivity (Laron syndrome) and the issue of the origin and function of the GHRd3 isoform. The Journal of Clinical Endocrinology and Metabolism. 88: 1705-10. PMID 12679461 DOI: 10.1210/Jc.2002-021667 |
0.51 |
|
| 2003 |
Borensztajn K, Sobrier ML, Fischer AM, Chafa O, Amselem S, Tapon-Bretaudiere J. Factor VII gene intronic mutation in a lethal factor VII deficiency: effects on splice-site selection. Blood. 102: 561-3. PMID 12676783 DOI: 10.1182/Blood-2002-09-2951 |
0.446 |
|
| 2002 |
Amselem S. Current approaches for deciphering the molecular basis of combined anterior pituitary hormone deficiency in humans. Molecular and Cellular Endocrinology. 197: 47-56. PMID 12431795 DOI: 10.1016/S0303-7207(02)00278-2 |
0.34 |
|
| 2002 |
Pennarun G, Bridoux AM, Escudier E, Dastot-Le Moal F, Cacheux V, Amselem S, Duriez B. Isolation and expression of the human hPF20 gene orthologous to Chlamydomonas PF20: evaluation as a candidate for axonemal defects of respiratory cilia and sperm flagella. American Journal of Respiratory Cell and Molecular Biology. 26: 362-70. PMID 11867345 DOI: 10.1165/Ajrcmb.26.3.4738 |
0.835 |
|
| 2001 |
Machinis K, Pantel J, Netchine I, Léger J, Camand OJ, Sobrier ML, Dastot-Le Moal F, Duquesnoy P, Abitbol M, Czernichow P, Amselem S. Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. American Journal of Human Genetics. 69: 961-8. PMID 11567216 DOI: 10.1086/323764 |
0.834 |
|
| 2001 |
Sternberg D, Chatzoglou E, Laforêt P, Fayet G, Jardel C, Blondy P, Fardeau M, Amselem S, Eymard B, Lombès A. Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders. Brain : a Journal of Neurology. 124: 984-94. PMID 11335700 DOI: 10.1093/Brain/124.5.984 |
0.704 |
|
| 2001 |
Mansour I, Delague V, Cazeneuve C, Dodé C, Chouery E, Pêcheux C, Medlej-Hashim M, Salem N, El Zein L, Levan-Petit I, Lefranc G, Goossens M, Delpech M, Amselem S, Loiselet J, et al. Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations. European Journal of Human Genetics : Ejhg. 9: 51-5. PMID 11175300 DOI: 10.1038/Sj.Ejhg.5200574 |
0.727 |
|
| 2000 |
Pennarun G, Chapelin C, Escudier E, Bridoux AM, Dastot F, Cacheux V, Goossens M, Amselem S, Duriez B. The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia. Human Genetics. 107: 642-9. PMID 11153919 DOI: 10.1007/S004390000427 |
0.832 |
|
| 2000 |
Papin S, Duquesnoy P, Cazeneuve C, Pantel J, Coppey-Moisan M, Dargemont C, Amselem S. Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus. Human Molecular Genetics. 9: 3001-9. PMID 11115844 DOI: 10.1093/Hmg/9.20.3001 |
0.799 |
|
| 2000 |
Cazeneuve C, Ajrapetyan H, Papin S, Roudot-Thoraval F, Geneviève D, Mndjoyan E, Papazian M, Sarkisian A, Babloyan A, Boissier B, Duquesnoy P, Kouyoumdjian JC, Girodon-Boulandet E, Grateau G, Sarkisian T, ... Amselem S, et al. Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever. American Journal of Human Genetics. 67: 1136-43. PMID 11017802 DOI: 10.1016/S0002-9297(07)62944-9 |
0.809 |
|
| 2000 |
Tauber MT, Porra V, Dastot F, Molinas C, Amselem S, Cholin S, Rochiccioli P, Bieth E. Heterozygous mutation in the WSXWS equivalaent motif of the growth hormone receptor in a child with poor response to growth hormone therapy. Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society. 8: 211-6. PMID 10984309 DOI: 10.1016/S1096-6374(98)80113-5 |
0.504 |
|
| 2000 |
Girodon-Boulandet E, Pantel J, Cazeneuve C, Gijn MV, Vidaud D, Lemay S, Martin J, Zeller J, Revuz J, Goossens M, Amselem S, Wolkenstein P. NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1. Human Mutation. 16: 274-5. PMID 10980545 DOI: 10.1002/1098-1004(200009)16:3<274::Aid-Humu21>3.0.Co;2-F |
0.725 |
|
| 2000 |
Netchine I, Talon P, Amselem S. [Molecular pathology of the GHRH receptor]. Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie. 221s-222s. PMID 10904718 DOI: 10.1016/S0929-693X(00)80045-7 |
0.543 |
|
| 2000 |
Netchine I, Sobrier ML, Amselem S. [Molecular pathology of transcription factors implicated in the development of the anterior hypophysis]. Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie. 218s-220s. PMID 10904717 DOI: 10.1016/S0929-693X(00)80044-5 |
0.559 |
|
| 2000 |
Dodé C, Pêcheux C, Cazeneuve C, Cattan D, Dervichian M, Goossens M, Delpech M, Amselem S, Grateau G. Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever. American Journal of Medical Genetics. 92: 241-6. PMID 10842288 DOI: 10.1002/(SICI)1096-8628(20000605)92:4<241::AID-AJMG3>3.0.CO;2-G |
0.723 |
|
| 2000 |
Netchine I, Sobrier ML, Krude H, Schnabel D, Maghnie M, Marcos E, Duriez B, Cacheux V, Moers Av, Goossens M, Grüters A, Amselem S. Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency. Nature Genetics. 25: 182-6. PMID 10835633 DOI: 10.1038/76041 |
0.717 |
|
| 2000 |
Grateau G, Pêcheux C, Cazeneuve C, Cattan D, Dervichian M, Goossens M, Delpech M, Amselem S, Dodé C. Clinical versus genetic diagnosis of familial Mediterranean fever. Qjm : Monthly Journal of the Association of Physicians. 93: 223-9. PMID 10787450 DOI: 10.1093/QJMED/93.4.223 |
0.644 |
|
| 2000 |
Pantel J, Machinis K, Sobrier ML, Duquesnoy P, Goossens M, Amselem S. Species-specific alternative splice mimicry at the growth hormone receptor locus revealed by the lineage of retroelements during primate evolution. The Journal of Biological Chemistry. 275: 18664-9. PMID 10764769 DOI: 10.1074/Jbc.M001615200 |
0.787 |
|
| 2000 |
Hézode C, Cazeneuve C, Coué O, Roudot-Thoraval F, Lonjon I, Bastie A, Duvoux C, Pawlotsky JM, Zafrani ES, Amselem S, Dhumeaux D. Liver iron accumulation in patients with chronic active hepatitis C: prevalence and role of hemochromatosis gene mutations and relationship with hepatic histological lesions. Journal of Hepatology. 31: 979-84. PMID 10604569 DOI: 10.1016/S0168-8278(99)80308-0 |
0.622 |
|
| 1999 |
Pennarun G, Escudier E, Chapelin C, Bridoux AM, Cacheux V, Roger G, Clément A, Goossens M, Amselem S, Duriez B. Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. American Journal of Human Genetics. 65: 1508-19. PMID 10577904 DOI: 10.1086/302683 |
0.844 |
|
| 1999 |
Danan C, Sternberg D, Van Steirteghem A, Cazeneuve C, Duquesnoy P, Besmond C, Goossens M, Lissens W, Amselem S. Evaluation of parental mitochondrial inheritance in neonates born after intracytoplasmic sperm injection. American Journal of Human Genetics. 65: 463-73. PMID 10417289 DOI: 10.1086/302484 |
0.724 |
|
| 1999 |
Cazeneuve C, Sarkisian T, Pêcheux C, Dervichian M, Nédelec B, Reinert P, Ayvazyan A, Kouyoumdjian JC, Ajrapetyan H, Delpech M, Goossens M, Dodé C, Grateau G, Amselem S. MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications. American Journal of Human Genetics. 65: 88-97. PMID 10364520 DOI: 10.1086/302459 |
0.701 |
|
| 1999 |
Woods KA, Ajl C, Amselem S, Savage MO. Relationship between phenotype and genotype in growth hormone insensitivity syndrome Acta Paediatrica, International Journal of Paediatrics, Supplement. 88: 158-163. PMID 10102073 DOI: 10.1111/J.1651-2227.1999.Tb14376.X |
0.485 |
|
| 1999 |
Dastot F, Duquesnoy P, Sobrier ML, Goossens M, Amselem S. Evolutionary divergence of the truncated growth hormone receptor isoform in its ability to generate a soluble growth hormone binding protein. Molecular and Cellular Endocrinology. 137: 79-84. PMID 9607731 DOI: 10.1016/S0303-7207(97)00232-3 |
0.301 |
|
| 1998 |
Savage MO, Woods KA, Clark AJL, Amselem S. Phenotype heterogeneity in inherited growth hormone insensitivity Archives De Pediatrie. 5: 364-370. PMID 9853085 DOI: 10.1016/S0929-693X(99)80192-4 |
0.449 |
|
| 1998 |
Duquesnoy P, Roy A, Dastot F, Ghali I, Teinturier C, Netchine I, Cacheux V, Hafez M, Salah N, Chaussain JL, Goossens M, Bougnères P, Amselem S. Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency. Febs Letters. 437: 216-20. PMID 9824293 DOI: 10.1016/S0014-5793(98)01234-4 |
0.711 |
|
| 1998 |
Netchine I, Talon P, Dastot F, Vitaux F, Goossens M, Amselem S. Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene. The Journal of Clinical Endocrinology and Metabolism. 83: 432-6. PMID 9467553 DOI: 10.1210/Jcem.83.2.4528 |
0.688 |
|
| 1998 |
Hezode C, Cazeneuve C, Coué O, Pawlotsky JM, Zafrani ES, Amselem S, Dhumeaux D. Hemochromatosis Cys282Tyr mutation and liver iron overload in patients with chronic active hepatitis C. Hepatology (Baltimore, Md.). 27: 306. PMID 9425955 DOI: 10.1002/Hep.510270148 |
0.632 |
|
| 1998 |
Sternberg D, Danan C, Lombès A, Laforêt P, Girodon E, Goossens M, Amselem S. Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders. Human Molecular Genetics. 7: 33-42. PMID 9384601 DOI: 10.1093/Hmg/7.1.33 |
0.688 |
|
| 1998 |
Danan C, Van Sterteghem A, Sternberg D, Goossens M, Amselem S. Search for Mitochondrial DNA Heteroplasmy in Neonates Born after Intracytoplasmic Sperm Injection and their Parents † 706 Pediatric Research. 43: 123-123. DOI: 10.1203/00006450-199804001-00727 |
0.592 |
|
| 1997 |
Woods KA, Dastot F, Preece MA, Clark AJL, Postel-Vinay MC, Chatelain PG, Ranke MB, Rosenfeld RG, Amselem S, Savage MO. Phenotype: Genotype relationships in growth hormone insensitivity syndrome Journal of Clinical Endocrinology and Metabolism. 82: 3529-3535. PMID 9360502 DOI: 10.1210/Jcem.82.11.4389 |
0.455 |
|
| 1997 |
Chapelin C, Duriez B, Magnino F, Goossens M, Escudier E, Amselem S. Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment. Febs Letters. 412: 325-30. PMID 9256245 DOI: 10.1016/S0014-5793(97)00800-4 |
0.606 |
|
| 1997 |
Desbois-Mouthon C, Girodon E, Ghanem N, Caron M, Pennerath A, Conteville P, Magre J, Besmond C, Goossens M, Capeau J, Amselem S. Molecular analysis of the insulin receptor gene for prenatal diagnosis of leprechaunism in two families. Prenatal Diagnosis. 17: 657-63. PMID 9249867 DOI: 10.1002/(Sici)1097-0223(199707)17:7<657::Aid-Pd132>3.0.Co;2-8 |
0.435 |
|
| 1997 |
Sobrier ML, Dastot F, Duquesnoy P, Kandemir N, Yordam N, Goossens M, Amselem S. Nine novel growth hormone receptor gene mutations in patients with Laron syndrome. The Journal of Clinical Endocrinology and Metabolism. 82: 435-7. PMID 9024232 DOI: 10.1210/Jcem.82.2.3725 |
0.485 |
|
| 1997 |
Desbois-Mouthon C, Danan C, Amselem S, Blivet-Van Eggelpoel MJ, Sert-Langeron C, Goossens M, Besmond C, Capeau J, Caron M. Severe resistance to insulin and insulin-like growth factor-I in cells from a patient with leprechaunism as a result of two mutations in the tyrosine kinase domain of the insulin receptor. Metabolism: Clinical and Experimental. 45: 1493-500. PMID 8969282 DOI: 10.1016/S0026-0495(96)90178-X |
0.337 |
|
| 1997 |
Danan C, Van Steirteghem A, Sternberg D, Girodon E, Lacombe C, Amselem S. MITOCHONDRIAL DNA INHERITANCE IN NEONATES BORN AFTER INTRACYTOPLASMIC SPERM INJECTION. 596 Pediatric Research. 41: 102-102. DOI: 10.1203/00006450-199704001-00616 |
0.59 |
|
| 1997 |
Tauber MT, Porra V, Jouret B, Pienkowski C, Oliver I, Bieth E, Molinas C, Cholin S, Dastot F, Amselem S, Rochiccioli P. Mise en évidence de mutations du gène du récepteur de l'hormone de croissance chez des enfants « mauvais répondeursau traitement par l'hormone de croissance recombinante Archives De Pediatrie. 4. DOI: 10.1016/S0929-693X(97)86520-7 |
0.323 |
|
| 1996 |
Dastot F, Sobrier ML, Duquesnoy P, Duriez B, Goossens M, Amselem S. Alternatively spliced forms in the cytoplasmic domain of the human growth hormone (GH) receptor regulate its ability to generate a soluble GH-binding protein. Proceedings of the National Academy of Sciences of the United States of America. 93: 10723-8. PMID 8855247 DOI: 10.1073/Pnas.93.20.10723 |
0.305 |
|
| 1996 |
Amselem S, Sobrier ML, Dastot F, Duquesnoy P, Duriez B, Goossens M. Molecular basis of inherited growth hormone resistance in childhood. Bailliere's Clinical Endocrinology and Metabolism. 10: 353-69. PMID 8853444 DOI: 10.1016/S0950-351X(96)80485-X |
0.522 |
|
| 1996 |
Netchine I, Sobrier M, Duquesnoy P, Duriez B, Amselem S, Goossens M, Brauner R. Les déficits idiopathiques en hormone de croissance : du phénotype au génotype Archives De PéDiatrie. 3: 1288-1289. DOI: 10.1016/S0929-693X(97)85958-1 |
0.544 |
|
| 1995 |
Desbois-Mouthon C, Magré J, Amselem S, Reynet C, Blivet MJ, Goossens M, Capeau J, Besmond C. Lipoatrophic diabetes: genetic exclusion of the insulin receptor gene. The Journal of Clinical Endocrinology and Metabolism. 80: 314-9. PMID 7829633 DOI: 10.1210/Jcem.80.1.7829633 |
0.409 |
|
| 1995 |
Gicquel C, Dib A, Bertagna X, Amselem S, Le Bouc Y. Oncogenic mutations of alpha-Gi2 protein are not determinant for human adrenocortical tumourigenesis. European Journal of Endocrinology. 133: 166-72. PMID 7655640 DOI: 10.1530/Eje.0.1330166 |
0.433 |
|
| 1994 |
Duriez B, Duquesnoy P, Dastot F, Bougnères P, Amselem S, Goossens M. An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency. Febs Letters. 346: 165-70. PMID 8013627 DOI: 10.1016/0014-5793(94)00457-9 |
0.47 |
|
| 1993 |
Amselem S, Duquesnoy P, Duriez B, Dastot F, Sobrier ML, Valleix S, Goossens M. Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome. Human Molecular Genetics. 2: 355-9. PMID 8504296 DOI: 10.1093/Hmg/2.4.355 |
0.526 |
|
| 1993 |
Goossens M, Amselem S, Duquesnoy P, Sobrier ML. Molecular genetics of Laron-type GH insensitivity syndrome. Recent Progress in Hormone Research. 48: 165-78. PMID 8441847 DOI: 10.1016/B978-0-12-571148-7.50010-5 |
0.347 |
|
| 1993 |
Duriez B, Sobrier ML, Duquesnoy P, Tixier-Boichard M, Decuypere E, Coquerelle G, Zeman M, Goossens M, Amselem S. A naturally occurring growth hormone receptor mutation: in vivo and in vitro evidence for the functional importance of the WS motif common to all members of the cytokine receptor superfamily. Molecular Endocrinology (Baltimore, Md.). 7: 806-14. PMID 8361502 DOI: 10.1210/Mend.7.6.8361502 |
0.443 |
|
| 1993 |
Amselem S, Dastol F, Duquesnoy P, Sobrier M, Vallex S, Duriez B, Goossens M. SPECTRUM OF GROWTH HORMONE RECEPTOR MUTATIONS AND ASSOCIATED HAPLOTYPES IN LARON SYNDROME Pediatric Research. 33: S60-S60. DOI: 10.1203/00006450-199305001-00341 |
0.54 |
|
| 1993 |
Duquesnov P, Sobrier M, Buchanan CR, Duriez B, Maheshwari HG, Savage MO, Postel-Vinay M, Norman M, Couerill AM, Prcece MA, Goossens M, Amselem S. MOLECULAR ANALYSIS OF TWO FAMILIES WITH LARON SYNDROME AND POSITIVE GROWTH HORMONE BINDING PROTEIN Pediatric Research. 33: S60-S60. DOI: 10.1203/00006450-199305001-00340 |
0.44 |
|
| 1992 |
Hovnanian A, Duquesnoy P, Blanchet-Bardon C, Knowlton RG, Amselem S, Lathrop M, Dubertret L, Uitto J, Goossens M. Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene. The Journal of Clinical Investigation. 90: 1032-6. PMID 1355776 DOI: 10.1172/Jci115916 |
0.405 |
|
| 1991 |
Amselem S, Sobrier ML, Duquesnoy P, Rappaport R, Postel-Vinay MC, Gourmelen M, Dallapiccola B, Goossens M. Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism. The Journal of Clinical Investigation. 87: 1098-102. PMID 1999489 DOI: 10.1172/Jci115071 |
0.389 |
|
| 1991 |
Romana M, Grandchamp B, Dubart A, Amselem S, Chabret C, Nordmann Y, Goossens M, Romeo PH. Identification of a new mutation responsible for hepatoerythropoietic porphyria. European Journal of Clinical Investigation. 21: 225-9. PMID 1905636 DOI: 10.1111/j.1365-2362.1991.tb01814.x |
0.394 |
|
| 1991 |
Duquesnoy P, Sobrier ML, Amselem S, Goossens M. Defective membrane expression of human growth hormone (GH) receptor causes Laron-type GH insensitivity syndrome. Proceedings of the National Academy of Sciences of the United States of America. 88: 10272-6. PMID 1719554 DOI: 10.1073/Pnas.88.22.10272 |
0.386 |
|
| 1991 |
Hovnanian A, Duquesnoy P, Amselem S, Blanchet-Bardon C, Lathrop M, Dubertret L, Goossens M. Exclusion of linkage between the collagenase gene and generalized recessive dystrophic epidermolysis bullosa phenotype. The Journal of Clinical Investigation. 88: 1716-21. PMID 1658051 DOI: 10.1172/Jci115489 |
0.429 |
|
| 1989 |
Siguret V, Amselem S, Vidaud M, Assouline Z, Kerbiriou-Nabias D, Piétu G, Goossens M, Larrieu MJ, Bahnak B, Meyer D. Identification of a CpG mutation in the coagulation factor-IX gene by analysis of amplified DNA sequences. British Journal of Haematology. 70: 411-6. PMID 3219291 DOI: 10.1111/J.1365-2141.1988.Tb02509.X |
0.354 |
|
| 1989 |
Vidaud M, Gattoni R, Stevenin J, Vidaud D, Amselem S, Chibani J, Rosa J, Goossens M. A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia. Proceedings of the National Academy of Sciences of the United States of America. 86: 1041-5. PMID 2915972 DOI: 10.1073/Pnas.86.3.1041 |
0.365 |
|
| 1989 |
Amselem S, Duquesnoy P, Attree O, Novelli G, Bousnina S, Postel-Vinay MC, Goossens M. Laron dwarfism and mutations of the growth hormone-receptor gene. The New England Journal of Medicine. 321: 989-95. PMID 2779634 DOI: 10.1056/Nejm198910123211501 |
0.433 |
|
| 1989 |
Attree O, Vidaud D, Vidaud M, Amselem S, Lavergne JM, Goossens M. Mutations in the catalytic domain of human coagulation factor IX: rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior. Genomics. 4: 266-72. PMID 2714791 DOI: 10.1016/0888-7543(89)90330-3 |
0.444 |
|
| 1988 |
Rouabhi F, Lapouméroulie C, Amselem S, Krishnamoorthy R, Adjrad L, Girot R, Chardin P, Benabdji M, Labie D, Beldjord C. DNA haplotype distribution in Algerian beta thalassaemia patients. An extended evaluation by family studies and representative molecular characterization. Human Genetics. 79: 373-6. PMID 2900801 DOI: 10.1007/Bf00282180 |
0.425 |
|
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