Serge Amselem - Publications

UPMC Univ Paris 6, France 
, Hereditary recurrent fevers, Inflammasome

99 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
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  0.92
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  0.56
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  0.92
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  0.6
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  0.56
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  0.92
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  0.6
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  0.56
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  0.56
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  0.68
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  0.68
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  0.92
2019 Terré A, Talbot A, Louvrier C, Picque JB, Mahévas M, Amselem S, Giurgea I, Boutboul D, Grateau G, Georgin-Lavialle S. Monoclonal gammopathy, arthralgias, and recurrent fever syndrome: a new autoinflammatory syndrome? The Journal of Rheumatology. PMID 30877203 DOI: 10.3899/jrheum.181204  0.92
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  0.6
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  0.92
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  0.6
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  0.6
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  0.56
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  0.48
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  0.92
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  0.92
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  0.6
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  0.56
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  0.6
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  0.6
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  0.92
2017 Stankovic Stojanovic K, Georgin-Lavialle S, Poitou C, Buob D, Amselem S, Grateau G. AA amyloidosis is an emerging cause of nephropathy in obese patients. European Journal of Internal Medicine. PMID 28214252 DOI: 10.1016/j.ejim.2017.02.004  0.52
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  0.68
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  0.92
2016 Stankovic Stojanovic K, Hentgen V, Fellahi S, Georgin-Lavialle S, Amselem S, Grateau G, Bastard JP, Steichen O. Concordance between CRP and SAA in familial Mediterranean fever during attack-free period: A study of 218 patients. Clinical Biochemistry. PMID 27838405 DOI: 10.1016/j.clinbiochem.2016.11.008  0.52
2016 Nathan N, Taytard J, Duquesnoy P, Thouvenin G, Corvol H, Amselem S, Clement A. Surfactant protein A: a key player in lung homeostasis. The International Journal of Biochemistry & Cell Biology. PMID 27836807 DOI: 10.1016/j.biocel.2016.11.003  0.68
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  0.68
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  0.68
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  0.92
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  0.52
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  0.52
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: 10.1093/hmg/ddw014  0.52
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  0.52
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  0.52
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/s13023-015-0295-9  0.92
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  0.52
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  0.56
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  0.56
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  0.56
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  0.6
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  0.68
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  0.52
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  0.68
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  0.52
2013 Guillot L, Nathan N, Tabary O, Thouvenin G, Le Rouzic P, Corvol H, Amselem S, Clement A. Alveolar epithelial cells: Master regulators of lung homeostasis International Journal of Biochemistry and Cell Biology. 45: 2568-2573. PMID 23988571 DOI: 10.1016/j.biocel.2013.08.009  0.52
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  0.68
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  0.52
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  0.68
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  0.6
2013 Hentgen V, Grateau G, Kone-Paut I, Livneh A, Padeh S, Rozenbaum M, Amselem S, Gershoni-Baruch R, Touitou I, Ben-Chetrit E. Evidence-based recommendations for the practical management of Familial Mediterranean Fever. Seminars in Arthritis and Rheumatism. 43: 387-91. PMID 23742958 DOI: 10.1016/j.semarthrit.2013.04.011  0.48
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  0.6
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  0.6
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  0.68
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  0.68
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: 10.1186/1750-1172-7-78  0.6
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: 10.1136/jmedgenet-2012-100867  0.68
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  0.6
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  0.52
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  0.56
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  0.56
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  0.36
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  0.68
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  0.56
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  0.68
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  0.52
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  0.56
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  0.52
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  0.68
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  0.52
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  0.52
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  0.68
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  0.56
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  0.56
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  0.52
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  0.52
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  0.68
2006 Borensztajn K, Sobrier ML, Duquesnoy P, Fischer AM, Tapon-Bretaudière J, Amselem S. Oriented scanning is the leading mechanism underlying 5' splice site selection in mammals. Plos Genetics. 2: e138. PMID 16948532 DOI: 10.1371/journal.pgen.0020138  0.68
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  0.56
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  1
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  0.52
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  0.52
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  0.52
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  1
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  0.68
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  0.56
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  0.68
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  0.68
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  0.68
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  0.68
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  0.68
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  0.52
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  0.52
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  0.56
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  0.6
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