| Year |
Citation |
Score |
| 2024 |
Plaisancié J, Chesneau B, Fares-Taie L, Rozet JM, Pechmeja J, Noero J, Gaston V, Bailleul-Forestier I, Calvas P, Chassaing N. Structural Variant Disrupting the Expression of the Remote Gene in a Patient with Syndromic Complex Microphthalmia. International Journal of Molecular Sciences. 25. PMID 38473917 DOI: 10.3390/ijms25052669 |
0.334 |
|
| 2023 |
Husson T, Lecoquierre F, Nicolas G, Richard AC, Afenjar A, Audebert-Bellanger S, Badens C, Bilan F, Bizaoui V, Boland A, Bonnet-Dupeyron MN, Brischoux-Boucher E, Bonnet C, Bournez M, Boute O, ... ... Chassaing N, et al. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders. European Journal of Human Genetics : Ejhg. PMID 37872275 DOI: 10.1038/s41431-023-01474-x |
0.422 |
|
| 2023 |
Santorini M, Chesneau B, Koskas-Boublil P, Metge F, Caputo G, Chassaing N, Martin G, Plaisancié J. First implication of MIP in bilateral microphthalmia with persistent fetal vasculature. American Journal of Medical Genetics. Part A. PMID 36734406 DOI: 10.1002/ajmg.a.63133 |
0.375 |
|
| 2022 |
Bouasker S, Patel N, Greenlees R, Wellesley D, Fares Taie L, Almontashiri NA, Baptista J, Alghamdi MA, Boissel S, Martinovic J, Prokudin I, Holden S, Mudhar HS, Riley LG, Nassif C, ... ... Chassaing N, et al. Bi-allelic variants in disrupt the development of multiple organs in humans. Journal of Medical Genetics. PMID 35790350 DOI: 10.1136/jmedgenet-2022-108475 |
0.308 |
|
| 2022 |
Chesneau B, Aubert-Mucca M, Fremont F, Pechmeja J, Soler V, Isidor B, Nizon M, Dollfus H, Kaplan J, Fares-Taie L, Rozet JM, Busa T, Lacombe D, Naudion S, Amiel J, ... ... Chassaing N, et al. First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients. Clinical Genetics. PMID 35170016 DOI: 10.1111/cge.14123 |
0.353 |
|
| 2021 |
Kalantari S, Carlston C, Alsaleh N, Abdel-Salam GMH, Alkuraya F, Kato M, Matsumoto N, Miyatake S, Yamamoto T, Fares-Taie L, Rozet JM, Chassaing N, Vincent-Delorme C, Kang-Bellin A, McWalter K, et al. Expanding the KIF4A-associated phenotype. American Journal of Medical Genetics. Part A. PMID 34346154 DOI: 10.1002/ajmg.a.62443 |
0.319 |
|
| 2020 |
Aubert-Mucca M, Pernin-Grandjean J, Marchasson S, Gaston V, Habib C, Meunier I, Sigaudy S, Kaplan J, Roche O, Denis D, Bitoun P, Haye D, Verloes A, Calvas P, Chassaing N, et al. Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma. European Journal of Human Genetics : Ejhg. PMID 32737437 DOI: 10.1038/S41431-020-0695-8 |
0.449 |
|
| 2020 |
Dubucs C, Chassaing N, Sergi C, Aubert-Mucca M, Attié-Bitach T, Lacombe D, Thauvin-Robinet C, Arpin S, Perez MJ, Cabrol C, Chen CP, Aziza J, Colin E, Martinovic J, Calvas P, et al. Re-focusing on Agnathia-Otocephaly complex. Clinical Oral Investigations. PMID 32643087 DOI: 10.1007/S00784-020-03443-W |
0.512 |
|
| 2020 |
Bayat A, Knaus A, Pendziwiat M, Afenjar A, Stefan Barakat T, Bosch F, Callewaert B, Calvas P, Ceulemans B, Chassaing N, Depienne C, Endziniene M, Ferreira CR, Moura de Souza CF, Freihuber C, et al. Lessons learned from 40 novel PIGA patients and a review of the literature. Epilepsia. PMID 32452540 DOI: 10.1111/Epi.16545 |
0.34 |
|
| 2020 |
Chesneau B, Edouard T, Dulac Y, Colineaux H, Langeois M, Hanna N, Boileau C, Arnaud P, Chassaing N, Julia S, Jondeau G, Plancke A, Khau Van Kien P, Plaisancié J. Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature. Molecular Genetics & Genomic Medicine. e1132. PMID 32154675 DOI: 10.1002/Mgg3.1132 |
0.39 |
|
| 2020 |
Zazo-Seco C, Plaisancié J, Bitoun P, Corton M, Arteche A, Ayuso C, Schneider A, Zafeiropoulou D, Gilissen C, Roche O, Frémont F, Calvas P, Slavotinek A, Ragge N, Chassaing N. Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis. Journal of Human Genetics. PMID 32015378 DOI: 10.1038/S10038-020-0726-X |
0.531 |
|
| 2020 |
Laliève F, Decramer S, Heidet L, Baudouin V, Lahoche A, Llanas B, Cochat P, Tenenbaum J, Lavocat MP, Eckart P, Broux F, Roussey G, Cloarec S, Vrillon I, Dunand O, ... ... Chassaing N, et al. School level of children carrying a HNF1B variant or a deletion. European Journal of Human Genetics : Ejhg. 28: 56-63. PMID 31481685 DOI: 10.1038/S41431-019-0490-6 |
0.323 |
|
| 2019 |
Holt RJ, Young RM, Crespo B, Ceroni F, Curry CJ, Bellacchio E, Bax DA, Ciolfi A, Simon M, Fagerberg CR, van Binsbergen E, De Luca A, Memo L, Dobyns WB, Mohammed AA, ... ... Chassaing N, et al. De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies. American Journal of Human Genetics. PMID 31402090 DOI: 10.1016/J.Ajhg.2019.07.005 |
0.375 |
|
| 2019 |
Plaisancié J, Ceroni F, Holt R, Seco CZ, Calvas P, Chassaing N, Ragge NK. Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia Human Genetics. 138: 799-830. PMID 30762128 DOI: 10.1007/S00439-019-01977-Y |
0.467 |
|
| 2019 |
Severino-Freire M, Maza A, Kuentz P, Duffourd Y, Faivre L, Brazet E, Chassaing N, Mery-Lemarche E, Vabres P, Mazereeuw-Hautier J. Severe gynaecological involvement in Proteus Syndrome. European Journal of Medical Genetics. 62: 270-272. PMID 30103035 DOI: 10.1016/J.Ejmg.2018.08.003 |
0.445 |
|
| 2018 |
Plaisancié J, Tarilonte M, Ramos P, Jeanton-Scaramouche C, Gaston V, Dollfus H, Aguilera D, Kaplan J, Fares-Taie L, Blanco-Kelly F, Villaverde C, Francannet C, Goldenberg A, Arroyo I, Rozet JM, ... ... Chassaing N, et al. Implication of non-coding PAX6 mutations in aniridia. Human Genetics. PMID 30291432 DOI: 10.1007/S00439-018-1940-X |
0.427 |
|
| 2018 |
Dubucs C, Merveille M, Kessler S, Sevely A, Chassaing N, Calvas P. Prenatal diagnosis of Norrie disease based on ultrasound scan findings. Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology. PMID 30125416 DOI: 10.1002/uog.20097 |
0.3 |
|
| 2018 |
Ragge N, Isidor B, Bitoun P, Odent S, Giurgea I, Cogné B, Deb W, Vincent M, Le Gall J, Morton J, Lim D, Le Meur G, Zazo Seco C, Zafeiropoulou D, ... ... Chassaing N, et al. Expanding the phenotype of the X-linked BCOR microphthalmia syndromes. Human Genetics. PMID 29974297 DOI: 10.1007/S00439-018-1896-X |
0.411 |
|
| 2018 |
Ceroni F, Aguilera-Garcia D, Chassaing N, Bax DA, Blanco-Kelly F, Ramos P, Tarilonte M, Villaverde C, da Silva LRJ, Ballesta-Martínez MJ, Sanchez-Soler MJ, Holt RJ, Cooper-Charles L, Bruty J, Wallis Y, et al. New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies. Human Genetics. PMID 29464339 DOI: 10.1007/S00439-018-1875-2 |
0.461 |
|
| 2018 |
Zazo Seco C, Plaisancié J, Lupasco T, Michot C, Pechmeja J, Delanne J, Cottereau E, Ayuso C, Corton M, Calvas P, Ragge N, Chassaing N. Identification of PITX3 mutations in individuals with various ocular developmental defects. Ophthalmic Genetics. 39: 314-320. PMID 29405783 DOI: 10.1080/13816810.2018.1430243 |
0.538 |
|
| 2018 |
Knaus A, Pantel JT, Pendziwiat M, Hajjir N, Zhao M, Hsieh TC, Schubach M, Gurovich Y, Fleischer N, Jäger M, Köhler S, Muhle H, Korff C, Møller RS, Bayat A, ... ... Chassaing N, et al. Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis. Genome Medicine. 10: 3. PMID 29310717 DOI: 10.1186/S13073-017-0510-5 |
0.456 |
|
| 2018 |
Plaisancié J, Ragge NK, Dollfus H, Kaplan J, Lehalle D, Francannet C, Morin G, Colineaux H, Calvas P, Chassaing N. FOXE3 mutations: genotype-phenotype correlations. Clinical Genetics. 93: 837-845. PMID 29136273 DOI: 10.1111/Cge.13177 |
0.567 |
|
| 2017 |
Perre PV, Seco CZ, Patat O, Bouneau L, Vigouroux A, Bourgeois D, Hout SE, Chassaing N, Calvas P. 4q25 microdeletion encompassing PITX2: A patient presenting with tetralogy of Fallot and dental anomalies without ocular features. European Journal of Medical Genetics. 61: 72-78. PMID 29100920 DOI: 10.1016/J.Ejmg.2017.10.018 |
0.466 |
|
| 2017 |
Sadowski S, Chassaing N, Gaj Z, Czichos E, Wilczynski J, Nowakowska D. Both a frameshift and a missense mutation of the STRA6 gene observed in an infant with the Matthew-Wood syndrome. Birth Defects Research. 109: 251-253. PMID 28398665 DOI: 10.1002/bdra.23465 |
0.43 |
|
| 2017 |
Severino-Freire M, Maza A, Lombardi MP, Tournier E, Chassaing N, Mazereeuw-Hautier J. Mosaic Focal Dermal Hypoplasia (Goltz Syndrome) in Two Female Patients. Acta Dermato-Venereologica. 97: 853-854. PMID 28293688 DOI: 10.2340/00015555-2648 |
0.347 |
|
| 2017 |
Tardieu C, Jung S, Niederreither K, Prasad M, Hadj-Rabia S, Philip N, Mallet A, Consolino E, Sfeir E, Noueiri B, Chassaing N, Dollfus H, Manière MC, Bloch-Zupan A, Clauss F. Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: a multicentric genotype-phenotype study. Clinical Genetics. PMID 28105635 DOI: 10.1111/Cge.12972 |
0.561 |
|
| 2017 |
Severino-Freire M, Jonca N, Pichery M, Tournier E, Chassaing N, Mazereeuw-Hautier J. Extensive Post-zygotic Mosaicism of KRT1 or KRT10 Mutation Mimicking Classical Epider-molytic Ichthyosis. Acta Dermato-Venereologica. 97: 387-388. PMID 27722766 DOI: 10.2340/00015555-2542 |
0.513 |
|
| 2017 |
Mieusset R, Fauquet I, Chauveau D, Monteil L, Chassaing N, Daudin M, Huart A, Isus F, Prouheze C, Calvas P, Bieth E, Bujan L, Faguer S. The spectrum of renal involvement in male patients with infertility related to excretory-system abnormalities: phenotypes, genotypes, and genetic counseling. Journal of Nephrology. 30: 211-218. PMID 26946416 DOI: 10.1007/S40620-016-0286-5 |
0.34 |
|
| 2016 |
Plaisancie J, Calvas P, Chassaing N. Genetic Advances in Microphthalmia. Journal of Pediatric Genetics. 5: 184-188. PMID 27895970 DOI: 10.1055/S-0036-1592350 |
0.379 |
|
| 2016 |
El Chehadeh S, Kerstjens-Frederikse WS, Thevenon J, Kuentz P, Bruel AL, Thauvin-Robinet C, Bensignor C, Dollfus H, Laugel V, Rivière JB, Duffourd Y, Bonnet C, Robert MP, Isaiko R, Straub M, ... ... Chassaing N, et al. Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature. European Journal of Human Genetics : Ejhg. PMID 27804958 DOI: 10.1038/Ejhg.2016.133 |
0.461 |
|
| 2016 |
Patat O, Pagin A, Siegfried A, Mitchell V, Chassaing N, Faguer S, Monteil L, Gaston V, Bujan L, Courtade-Saïdi M, Marcelli F, Lalau G, Rigot JM, Mieusset R, Bieth E. Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens. American Journal of Human Genetics. 99: 437-442. PMID 27476656 DOI: 10.1016/J.Ajhg.2016.06.012 |
0.465 |
|
| 2016 |
Dubourg C, Carré W, Hamdi-Rozé H, Mouden C, Roume J, Abdelmajid B, Amram D, Baumann C, Chassaing N, Coubes C, Faivre-Olivier L, Ginglinger E, Gonzales M, Levy-Mozziconacci A, Lynch SA, et al. Mutational Spectrum in Holoprosencephaly Shows That Fgf is a New Major Signaling Pathway. Human Mutation. PMID 27363716 DOI: 10.1002/Humu.23038 |
0.522 |
|
| 2016 |
Moutton S, Fergelot P, Naudion S, Cordier MP, Solé G, Guerineau E, Hubert C, Rooryck C, Vuillaume ML, Houcinat N, Deforges J, Bouron J, Devès S, Le Merrer M, David A, ... ... Chassaing N, et al. Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum. Journal of Human Genetics. PMID 27193221 DOI: 10.1038/Jhg.2016.37 |
0.583 |
|
| 2016 |
Srour M, Caron V, Pearson T, Nielsen SB, Lévesque S, Delrue MA, Becker TA, Hamdan FF, Kibar Z, Sattler SG, Schneider MC, Bitoun P, Chassaing N, Rosenfeld JA, Xia F, et al. Gain-Of-Function Mutations In RARB Cause Intellectual Disability With Progressive Motor Impairment. Human Mutation. PMID 27120018 DOI: 10.1002/Humu.23004 |
0.386 |
|
| 2016 |
Chassaing N, Ragge N, Plaisancié J, Patat O, Geneviève D, Rivier F, Malrieu-Eliaou C, Hamel C, Kaplan J, Calvas P. Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia. American Journal of Medical Genetics. Part A. 170: 1895-8. PMID 27103084 DOI: 10.1002/Ajmg.A.37667 |
0.597 |
|
| 2016 |
Chassaing N, Davis EE, McKnight KL, Niederriter AR, Causse A, David V, Desmaison A, Lamarre S, Vincent-Delorme C, Pasquier L, Coubes C, Lacombe D, Rossi M, Dufier JL, Dollfus H, et al. Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. Genome Research. PMID 26893459 DOI: 10.1101/Gr.196048.115 |
0.716 |
|
| 2016 |
Plaisancié J, Brémond-Gignac D, Demeer B, Gaston V, Verloes A, Fares-Taie L, Gerber S, Rozet JM, Calvas P, Chassaing N. Incomplete penetrance of biallelic ALDH1A3 mutations. European Journal of Medical Genetics. 59: 215-8. PMID 26873617 DOI: 10.1016/J.Ejmg.2016.02.004 |
0.567 |
|
| 2016 |
Severino-Freire M, Maza A, Chassaing N, Mazereeuw-Hautier J. Syndrome de Goltz et mosaïque Annales De Dermatologie Et De Venereologie. 143. DOI: 10.1016/J.Annder.2016.09.431 |
0.314 |
|
| 2016 |
Severino-Freire M, Jonca N, Pichéry M, Tounier E, Chassaing N, Mazereeuw-hautier J. Ichtyose épidermolytique : penser à une mosaïque Annales De Dermatologie Et De Venereologie. 143. DOI: 10.1016/J.Annder.2016.09.408 |
0.319 |
|
| 2016 |
Chassaing N, Ragge N, Plaisancié J, Patat O, Geneviève D, Rivier F, Malrieu-Eliaou C, Hamel C, Kaplan J, Calvas P. Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia American Journal of Medical Genetics, Part A. 170: 1895-1898. DOI: 10.1002/ajmg.a.37667 |
0.522 |
|
| 2015 |
Barat-Houari M, Dumont B, Fabre A, Them FT, Alembik Y, Alessandri JL, Amiel J, Audebert S, Baumann-Morel C, Blanchet P, Bieth E, Brechard M, Busa T, Calvas P, Capri Y, ... ... Chassaing N, et al. The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype. European Journal of Human Genetics : Ejhg. PMID 26626311 DOI: 10.1038/Ejhg.2015.250 |
0.455 |
|
| 2015 |
Lefebvre M, Sanlaville D, Marle N, Thauvin-Robinet C, Gautier E, El Chehadeh S, Mosca-Boidron AL, Thevenon J, Edery P, Alex-Cordier MP, Till M, Lyonnet S, Cormier-Daire V, Amiel J, Philippe A, ... ... Chassaing N, et al. Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: A 7-year national survey. Clinical Genetics. PMID 26582393 DOI: 10.1111/Cge.12696 |
0.508 |
|
| 2015 |
Fares-Taie L, Gerber S, Tawara A, Ramirez-Miranda A, Douet JY, Verdin H, Guilloux A, Zenteno JC, Kondo H, Moisset H, Passet B, Yamamoto K, Iwai M, Tanaka T, Nakamura Y, ... ... Chassaing N, et al. Submicroscopic deletions at 13q32.1 cause congenital microcoria. American Journal of Human Genetics. 96: 631-9. PMID 25772937 DOI: 10.1016/J.Ajhg.2015.01.014 |
0.409 |
|
| 2015 |
Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, et al. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. European Journal of Human Genetics : Ejhg. 23: 292-301. PMID 25052316 DOI: 10.1038/Ejhg.2014.95 |
0.547 |
|
| 2014 |
Scott AF, Mohr DW, Kasch LM, Barton JA, Pittiglio R, Ingersoll R, Craig B, Marosy BA, Doheny KF, Bromley WC, Roderick TH, Chassaing N, Calvas P, Prabhu SS, Jabs EW. Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing. Jama Ophthalmology. 132: 1215-20. PMID 24993872 DOI: 10.1001/Jamaophthalmol.2014.1731 |
0.435 |
|
| 2014 |
Faguer S, Chassaing N, Bandin F, Prouheze C, Garnier A, Casemayou A, Huart A, Schanstra JP, Calvas P, Decramer S, Chauveau D. The HNF1B score is a simple tool to select patients for HNF1B gene analysis. Kidney International. 86: 1007-15. PMID 24897035 DOI: 10.1038/Ki.2014.202 |
0.426 |
|
| 2014 |
Thomas S, Wright KJ, Le Corre S, Micalizzi A, Romani M, Abhyankar A, Saada J, Perrault I, Amiel J, Litzler J, Filhol E, Elkhartoufi N, Kwong M, Casanova JL, Boddaert N, ... ... Chassaing N, et al. A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. Human Mutation. 35: 137-46. PMID 24166846 DOI: 10.1002/Humu.22470 |
0.74 |
|
| 2014 |
Chassaing N, Causse A, Vigouroux A, Delahaye A, Alessandri JL, Boespflug-Tanguy O, Boute-Benejean O, Dollfus H, Duban-Bedu B, Gilbert-Dussardier B, Giuliano F, Gonzales M, Holder-Espinasse M, Isidor B, Jacquemont ML, et al. Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. Clinical Genetics. 86: 326-34. PMID 24033328 DOI: 10.1111/Cge.12275 |
0.497 |
|
| 2013 |
Patat O, van Ravenswaaij-Arts CM, Tantau J, Corsten-Janssen N, van Tintelen JP, Dijkhuizen T, Kaplan J, Chassaing N. Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2. Molecular Syndromology. 4: 302-5. PMID 24167467 DOI: 10.1159/000353727 |
0.559 |
|
| 2013 |
Chauveau D, Faguer S, Bandin F, Guigonis V, Chassaing N, Decramer S. [HNF1B-related disease: paradigm of a developmental gene and unexpected recognition of a new renal disease]. Nephrologie & Therapeutique. 9: 393-7. PMID 24119877 DOI: 10.1016/J.Nephro.2013.05.004 |
0.366 |
|
| 2013 |
Srour M, Chitayat D, Caron V, Chassaing N, Bitoun P, Patry L, Cordier MP, Capo-Chichi JM, Francannet C, Calvas P, Ragge N, Dobrzeniecka S, Hamdan FF, Rouleau GA, Tremblay A, et al. Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia. American Journal of Human Genetics. 93: 765-72. PMID 24075189 DOI: 10.1016/J.Ajhg.2013.08.014 |
0.504 |
|
| 2013 |
Sen P, Yang Y, Navarro C, Silva I, Szafranski P, Kolodziejska KE, Dharmadhikari AV, Mostafa H, Kozakewich H, Kearney D, Cahill JB, Whitt M, Bilic M, Margraf L, Charles A, ... ... Chassaing N, et al. Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain. Human Mutation. 34: 801-11. PMID 23505205 DOI: 10.1002/Humu.22313 |
0.514 |
|
| 2013 |
Plaisancié J, Bailleul-Forestier I, Gaston V, Vaysse F, Lacombe D, Holder-Espinasse M, Abramowicz M, Coubes C, Plessis G, Faivre L, Demeer B, Vincent-Delorme C, Dollfus H, Sigaudy S, Guillén-Navarro E, ... ... Chassaing N, et al. Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia. American Journal of Medical Genetics. Part A. 161: 671-8. PMID 23401279 DOI: 10.1002/Ajmg.A.35747 |
0.581 |
|
| 2013 |
Fares-Taie L, Gerber S, Chassaing N, Clayton-Smith J, Hanein S, Silva E, Serey M, Serre V, Gérard X, Baumann C, Plessis G, Demeer B, Brétillon L, Bole C, Nitschke P, et al. ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. American Journal of Human Genetics. 92: 265-70. PMID 23312594 DOI: 10.1016/J.Ajhg.2012.12.003 |
0.614 |
|
| 2013 |
Chassaing N, Ragge N, Kariminejad A, Buffet A, Ghaderi-Sohi S, Martinovic J, Calvas P. Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia. Clinical Genetics. 83: 244-50. PMID 22686418 DOI: 10.1111/J.1399-0004.2012.01904.X |
0.551 |
|
| 2013 |
Nowakowska D, Janiga S, Chassaing N, Gaj Z, Wilczynski J. P06.10: A novel frameshift mutation of the STRA6 gene in a Polish boy presenting with Matthew-Wood syndrome Ultrasound in Obstetrics & Gynecology. 42: 135-136. DOI: 10.1002/UOG.12991 |
0.439 |
|
| 2012 |
Faguer S, Chassaing N, Bandin F, Prouheze C, Chauveau D, Decramer S. Should SIX2 be routinely tested in patients with isolated congenital abnormalities of kidneys and/or urinary tract (CAKUT)? European Journal of Medical Genetics. 55: 688-9. PMID 22809486 DOI: 10.1016/J.Ejmg.2012.06.003 |
0.438 |
|
| 2012 |
Chassaing N, Sorrentino S, Davis EE, Martin-Coignard D, Iacovelli A, Paznekas W, Webb BD, Faye-Petersen O, Encha-Razavi F, Lequeux L, Vigouroux A, Yesilyurt A, Boyadjiev SA, Kayserili H, Loget P, et al. OTX2 mutations contribute to the otocephaly-dysgnathia complex. Journal of Medical Genetics. 49: 373-9. PMID 22577225 DOI: 10.1136/Jmedgenet-2012-100892 |
0.671 |
|
| 2012 |
Rivière JB, van Bon BW, Hoischen A, Kholmanskikh SS, O'Roak BJ, Gilissen C, Gijsen S, Sullivan CT, Christian SL, Abdul-Rahman OA, Atkin JF, Chassaing N, Drouin-Garraud V, Fry AE, Fryns JP, et al. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nature Genetics. 44: 440-4, S1-2. PMID 22366783 DOI: 10.1038/Ng.1091 |
0.556 |
|
| 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, 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 |
0.415 |
|
| 2012 |
Nitschke Y, Baujat G, Botschen U, Wittkampf T, du Moulin M, Stella J, Le Merrer M, Guest G, Lambot K, Tazarourte-Pinturier MF, Chassaing N, Roche O, Feenstra I, Loechner K, Deshpande C, et al. Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. American Journal of Human Genetics. 90: 25-39. PMID 22209248 DOI: 10.1016/J.Ajhg.2011.11.020 |
0.552 |
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| 2012 |
Gribouval O, Morinière V, Pawtowski A, Arrondel C, Sallinen SL, Saloranta C, Clericuzio C, Viot G, Tantau J, Blesson S, Cloarec S, Machet MC, Chitayat D, Thauvin C, Laurent N, ... ... Chassaing N, et al. Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. Human Mutation. 33: 316-26. PMID 22095942 DOI: 10.1002/Humu.21661 |
0.501 |
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| 2011 |
Moog U, Kutsche K, Kortüm F, Chilian B, Bierhals T, Apeshiotis N, Balg S, Chassaing N, Coubes C, Das S, Engels H, Van Esch H, Grasshoff U, Heise M, Isidor B, et al. Phenotypic spectrum associated with CASK loss-of-function mutations. Journal of Medical Genetics. 48: 741-51. PMID 21954287 DOI: 10.1136/Jmedgenet-2011-100218 |
0.532 |
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| 2011 |
Faguer S, Decramer S, Chassaing N, Bellanné-Chantelot C, Calvas P, Beaufils S, Bessenay L, Lengelé JP, Dahan K, Ronco P, Devuyst O, Chauveau D. Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood. Kidney International. 80: 768-76. PMID 21775974 DOI: 10.1038/Ki.2011.225 |
0.412 |
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| 2011 |
Faguer S, Chassaing N, Bandin F, Prouheze C, Arveiler B, Rooryck C, Nogier MB, Chauveau D, Calvas P, Decramer S. A 17q12 chromosomal duplication associated with renal disease and esophageal atresia. European Journal of Medical Genetics. 54: e437-40. PMID 21540130 DOI: 10.1016/J.Ejmg.2011.03.010 |
0.388 |
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| 2011 |
Bercovitch L, Martin L, Chassaing N, Hefferon TW, Bessis D, Vanakker O, Terry SF. Acquired pseudoxanthoma elasticum presenting after liver transplantation. Journal of the American Academy of Dermatology. 64: 873-8. PMID 21397982 DOI: 10.1016/J.Jaad.2010.03.030 |
0.309 |
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| 2011 |
Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, Bal E, Chassaing N, Vincent MC, Viot G, Clauss F, Manière MC, Toupenay S, Le Merrer M, Lyonnet S, et al. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Human Mutation. 32: 70-2. PMID 20979233 DOI: 10.1002/Humu.21384 |
0.648 |
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| 2010 |
Desmaison A, Vigouroux A, Rieubland C, Peres C, Calvas P, Chassaing N. Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia. Molecular Vision. 16: 2847-9. PMID 21203406 |
0.433 |
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| 2010 |
Millat G, Bouvagnet P, Chevalier P, Dauphin C, Jouk PS, Da Costa A, Prieur F, Bresson JL, Faivre L, Eicher JC, Chassaing N, Crehalet H, Porcher R, Rodriguez-Lafrasse C, Rousson R. Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. European Journal of Medical Genetics. 53: 261-7. PMID 20624503 DOI: 10.1016/J.Ejmg.2010.07.007 |
0.57 |
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| 2010 |
Chao R, Nevin L, Agarwal P, Riemer J, Bai X, Delaney A, Akana M, JimenezLopez N, Bardakjian T, Schneider A, Chassaing N, Schorderet DF, FitzPatrick D, Kwok PY, Ellgaard L, et al. A male with unilateral microphthalmia reveals a role for TMX3 in eye development. Plos One. 5: e10565. PMID 20485507 DOI: 10.1371/Journal.Pone.0010565 |
0.376 |
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| 2010 |
Clauss F, Chassaing N, Smahi A, Vincent M, Calvas P, Molla M, Lesot H, Alembik Y, Hadj-Rabia S, Bodemer C, Manière M, Schmittbuhl M. X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings Clinical Genetics. 78: 257-266. PMID 20236127 DOI: 10.1111/J.1399-0004.2010.01376.X |
0.574 |
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| 2010 |
Chassaing N, Cluzeau C, Bal E, Guigue P, Vincent MC, Viot G, Ginisty D, Munnich A, Smahi A, Calvas P. Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases. The British Journal of Dermatology. 162: 1044-8. PMID 20222921 DOI: 10.1111/j.1365-2133.2010.09670.x |
0.447 |
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| 2010 |
Simon D, Laloo B, Barillot M, Barnetche T, Blanchard C, Rooryck C, Marche M, Burgelin I, Coupry I, Chassaing N, Gilbert-Dussardier B, Lacombe D, Grosset C, Arveiler B. A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia. Human Molecular Genetics. 19: 2015-27. PMID 20181727 DOI: 10.1093/Hmg/Ddq083 |
0.355 |
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| 2010 |
Boulanger GL, Labrèze C, Croué A, Schurgers LJ, Chassaing N, Wittkampf T, Rutsch F, Martin L. An Unusual Severe Vascular Case of Pseudoxanthoma Elasticum Presenting as Generalized Arterial Calcification of Infancy American Journal of Medical Genetics Part A. 152: 118-123. PMID 20034067 DOI: 10.1002/Ajmg.A.33162 |
0.505 |
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| 2010 |
Khau Van Kien P, Baux D, Pallares-Ruiz N, Baudoin C, Plancke A, Chassaing N, Collignon P, Drouin-Garraud V, Hovnanian A, Martin-Coignard D, Collod-Béroud G, Béroud C, Roux AF, Claustres M. Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains. Human Mutation. 31: E1021-42. PMID 19802897 DOI: 10.1002/Humu.21131 |
0.353 |
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| 2009 |
Faguer S, Chauveau D, Decramer S, Chassaing N. Mutations in the RARE and MARE regulatory sequences of HNF1β are not a frequent cause of kidney/urinary tract malformation. Ndt Plus. 2: 333-4. PMID 25984032 DOI: 10.1093/Ndtplus/Sfp039 |
0.453 |
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| 2009 |
Dassie-Ajdid J, Causse A, Poidvin A, Granier M, Kaplan J, Burglen L, Doummar D, Teisseire P, Vigouroux A, Malecaze F, Calvas P, Chassaing N. Novel B3GALTL mutation in Peters-plus Syndrome. Clinical Genetics. 76: 490-492. PMID 19796186 DOI: 10.1111/J.1399-0004.2009.01253.X |
0.542 |
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| 2009 |
Naouri M, Boisseau C, Bonicel P, Daudon P, Bonneau D, Chassaing N, Martin L. Manifestations of pseudoxanthoma elasticum in childhood British Journal of Dermatology. 161: 635-639. PMID 19519828 DOI: 10.1111/J.1365-2133.2009.09298.X |
0.316 |
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| 2009 |
Chassaing N, Vigouroux A, Calvas P. Mutations in the newly identified RAX regulatory sequence are not a frequent cause of micro/anophthalmia. Genetic Testing and Molecular Biomarkers. 13: 289-90. PMID 19397404 DOI: 10.1089/Gtmb.2008.0143 |
0.529 |
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| 2009 |
Chassaing N, Golzio C, Odent S, Lequeux L, Vigouroux A, Martinovic-Bouriel J, Tiziano FD, Masini L, Piro F, Maragliano G, Delezoide AL, Attié-Bitach T, Manouvrier-Hanu S, Etchevers HC, Calvas P. Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia. Human Mutation. 30: E673-81. PMID 19309693 DOI: 10.1002/Humu.21023 |
0.775 |
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| 2009 |
Bornholdt D, Oeffner F, König A, Happle R, Alanay Y, Ascherman J, Benke PJ, Boente Mdel C, van der Burgt I, Chassaing N, Ellis I, Francisco CR, Della Giovanna P, Hamel B, Has C, et al. PORCN mutations in focal dermal hypoplasia: coping with lethality. Human Mutation. 30: E618-28. PMID 19309688 DOI: 10.1002/Humu.20992 |
0.581 |
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| 2009 |
Faguer S, Pillet A, Chassaing N, Merhenberger M, Bernadet-Monrozies P, Guitard J, Chauveau D. Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthood. Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association. 24: 1341-5. PMID 19204018 DOI: 10.1093/Ndt/Gfp014 |
0.493 |
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| 2009 |
Bornholdt D, Oeffner F, Konig A, Happle R, Alanay Y, Ascherman J, Benke P, Boente, Burgt Ivd, Chassaing N, Ellis I, Francisco C, Giovanna PD, Hamel B, Has C, et al. PORCN Mutations in Focal Dermal Hypoplasia: Coping with Lethality (vol 30, pg E618, 2009) Human Mutation. 30: 1472-1473. DOI: 10.1002/Humu.21125 |
0.457 |
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| 2008 |
Lequeux L, Rio M, Vigouroux A, Titeux M, Etchevers H, Malecaze F, Chassaing N, Calvas P. Confirmation of RAX gene involvement in human anophthalmia. Clinical Genetics. 74: 392-5. PMID 18783408 DOI: 10.1111/J.1399-0004.2008.01078.X |
0.742 |
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| 2008 |
Martin L, Maître F, Bonicel P, Daudon P, Verny C, Bonneau D, Le Saux O, Chassaing N. Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE. Archives of Dermatology. 144: 301-6. PMID 18347285 DOI: 10.1001/Archderm.144.3.301 |
0.564 |
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| 2007 |
Chassaing N, Martin L, Bourthoumieu S, Calvas P, Hovnanian A. Contribution of ABCC6 genomic rearrangements to the diagnosis of pseudoxanthoma elasticum in French patients. Human Mutation. 28: 1046. PMID 17823974 DOI: 10.1002/Humu.9509 |
0.544 |
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| 2007 |
Kantarci S, Al-Gazali L, Hill RS, Donnai D, Black GC, Bieth E, Chassaing N, Lacombe D, Devriendt K, Teebi A, Loscertales M, Robson C, Liu T, MacLaughlin DT, Noonan KM, et al. Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nature Genetics. 39: 957-9. PMID 17632512 DOI: 10.1038/Ng2063 |
0.466 |
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| 2007 |
Naouri M, Michenet P, Chassaing N, Martin L. Immunohistochemical characterization of elastofibroma and exclusion of ABCC6 as a predisposing gene. British Journal of Dermatology. 156: 755-758. PMID 17493076 DOI: 10.1111/J.1365-2133.2006.07735.X |
0.313 |
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| 2007 |
Martin L, Chassaing N, Delaite D, Estève E, Maître F, Bert ML. Histological skin changes in heterozygote carriers of mutations in ABCC6, the gene causing pseudoxanthoma elasticum. Journal of the European Academy of Dermatology and Venereology. 21: 368-373. PMID 17309461 DOI: 10.1111/J.1468-3083.2006.01940.X |
0.474 |
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| 2007 |
Chassaing N, Gilbert-Dussardier B, Nicot F, Fermeaux V, Encha-Razavi F, Fiorenza M, Toutain A, Calvas P. Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement. American Journal of Medical Genetics. Part A. 143: 289-91. PMID 17219395 DOI: 10.1002/Ajmg.A.31524 |
0.499 |
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| 2006 |
Cattan D, Bouali B, Chassaing N, Martinez F, Dupont JM, Dode C, Martin L. Early and severe amyloidosis in a patient with concurrent familial Mediterranean fever and pseudoxanthoma elasticum. The British Journal of Dermatology. 154: 1190-3. PMID 16704654 DOI: 10.1111/j.1365-2133.2006.07187.x |
0.41 |
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| 2006 |
Chassaing N, Bourthoumieu S, Cossee M, Calvas P, Vincent M-. Mutations in EDAR account for one-quarter of Non-ED1-related hypohidrotic ectodermal dysplasia Human Mutation. 27: 255-259. PMID 16435307 DOI: 10.1002/Humu.20295 |
0.442 |
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| 2005 |
Chassaing N, Martin L, Calvas P, Bert ML, Hovnanian A. Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations Journal of Medical Genetics. 42: 881-892. PMID 15894595 DOI: 10.1136/Jmg.2004.030171 |
0.552 |
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| 2005 |
Martin L, Chassaing N, Esteve E, Maitre F, bert ML. C28 - Altérations histologiques dermiques chez les porteurs hétérozygotes d’une mutation de abcc6, le gène responsable du pseudoxanthome élastique Annales De Dermatologie Et De Venereologie. 132: 19. DOI: 10.1016/S0151-9638(05)79649-6 |
0.409 |
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| 2004 |
Chassaing N, Mas PD, Tauber M, Vincent MC, Julia S, Bourrouillou G, Calvas P, Bieth E. Molecular characterization of a cryptic 2q37 deletion in a patient with Albright hereditary osteodystrophy-like phenotype. American Journal of Medical Genetics Part A. 128: 410-413. PMID 15264288 DOI: 10.1002/Ajmg.A.30199 |
0.378 |
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| 2004 |
Chassaing N, Martin L, Mazereeuw J, Barrié L, Nizard S, Bonafé JL, Calvas P, Hovnanian A. Novel ABCC6 mutations in pseudoxanthoma elasticum. The Journal of Investigative Dermatology. 122: 608-13. PMID 15086542 DOI: 10.1111/J.0022-202X.2004.22312.X |
0.55 |
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| 2003 |
Chassaing N, Lacombe D, Carles D, Calvas P, Saura R, Bieth E. Donnai-Barrow syndrome: four additional patients. American Journal of Medical Genetics. Part A. 121: 258-62. PMID 12923867 DOI: 10.1002/Ajmg.A.20266 |
0.406 |
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| 2002 |
Mas PD, Chassaing N, Chaix Y, Vincent M, Julia S, Bourrouillou G, Calvas P, Bieth E. Molecular characterisation of a ring chromosome 22 in a patient with severe language delay: a contribution to the refinement of the subtelomeric 22q deletion syndrome Journal of Medical Genetics. 39. PMID 11950869 DOI: 10.1136/Jmg.39.4.E17 |
0.347 |
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