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Items: 1 to 50 of 104

1.

Chest pain in Brugada syndrome prevalence, correlations and prognosis role.

Sebai F, Rollin A, Mondoly P, Voglimacci-Stefanopoli Q, Dupin-Deguine D, Bieth E, Hocini M, Monteil B, Mandel F, Galinier M, Carrié D, Haïssaguerre M, Sacher F, Maury P.

Pacing Clin Electrophysiol. 2020 Feb 7. doi: 10.1111/pace.13881. [Epub ahead of print]

PMID:
32031268
2.

Genetics of the congenital absence of the vas deferens.

Bieth E, Hamdi SM, Mieusset R.

Hum Genet. 2020 Feb 5. doi: 10.1007/s00439-020-02122-w. [Epub ahead of print] Review.

PMID:
32025909
3.

Male partners of infertile couples with congenital unilateral absence of the vas deferens are mainly non-azoospermic.

Mieusset R, Bieth E, Daudin M, Isus F, Delaunay B, Bujan L, Monteil L, Fauquet I, Huyghe E, Hamdi SM.

Andrology. 2019 Dec 24. doi: 10.1111/andr.12749. [Epub ahead of print]

PMID:
31872980
4.

Novel ADGRG2 truncating variants in patients with X-linked congenital absence of vas deferens.

Pagin A, Bergougnoux A, Girodon E, Reboul MP, Willoquaux C, Kesteloot M, Raynal C, Bienvenu T, Humbert M, Lalau G, Bieth E.

Andrology. 2019 Dec 17. doi: 10.1111/andr.12744. [Epub ahead of print]

PMID:
31845523
5.

Pulmonary Alveolar Microlithiasis in Children Less than 5 Years of Age.

Sigur E, Roditis L, Labouret G, Bieth E, Simon S, Martin-Blondel A, Michelet M, Mittaine M, Blanchon S.

J Pediatr. 2020 Feb;217:158-164.e1. doi: 10.1016/j.jpeds.2019.10.014. Epub 2019 Nov 21.

PMID:
31761429
6.

Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants.

Lerat J, Magdelaine C, Lunati A, Dzugan H, Dejoie C, Rego M, Beze Beyrie P, Bieth E, Calvas P, Cintas P, Delaubrier A, Demurger F, Gilbert-Dussardier B, Goizet C, Journel H, Laffargue F, Magy L, Taithe F, Toutain A, Urtizberea JA, Sturtz F, Lia AS.

J Neurol Sci. 2019 Nov 15;406:116376. doi: 10.1016/j.jns.2019.06.027. Epub 2019 Jun 26.

PMID:
31634715
7.

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.

Lerat J, Magdelaine C, Roux AF, Darnaud L, Beauvais-Dzugan H, Naud S, Richard L, Derouault P, Ghorab K, Magy L, Vallat JM, Cintas P, Bieth E, Arne-Bes MC, Goizet C, Espil-Taris C, Journel H, Toutain A, Urtizberea JA, Boespflug-Tanguy O, Laffargue F, Corcia P, Pasquier L, Fradin M, Napuri S, Ciron J, Boulesteix JM, Sturtz F, Lia AS.

Mol Genet Genomic Med. 2019 Sep;7(9):e839. doi: 10.1002/mgg3.839. Epub 2019 Aug 8.

8.

New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.

Lerat J, Magdelaine C, Derouault P, Beauvais-Dzugan H, Bieth E, Acket B, Arne-Bes MC, Sturtz F, Lia AS.

Mol Genet Genomic Med. 2019 Sep;7(9):e875. doi: 10.1002/mgg3.875. Epub 2019 Jul 23.

9.

Searching for secondary findings: considering actionability and preserving the right not to know.

Isidor B, Julia S, Saugier-Veber P, Weil-Dubuc PL, Bézieau S, Bieth E, Bonnefont JP, Munnich A, Bourdeaut F, Bourgain C, Chassaing N, Corradini N, Haye D, Plaisancie J, Dupin-Deguine D, Calvas P, Mignot C, Cogné B, Manouvrier S, Pasquier L, Héron D, Boycott KM, Turrini M, Vears DF, Nizon M, Vincent M.

Eur J Hum Genet. 2019 Oct;27(10):1481-1484. doi: 10.1038/s41431-019-0438-x. Epub 2019 Jun 11. Review. No abstract available.

PMID:
31186543
10.

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.

Wahbi K, Ben Yaou R, Gandjbakhch E, Anselme F, Gossios T, Lakdawala NK, Stalens C, Sacher F, Babuty D, Trochu JN, Moubarak G, Savvatis K, Porcher R, Laforêt P, Fayssoil A, Marijon E, Stojkovic T, Béhin A, Leonard-Louis S, Sole G, Labombarda F, Richard P, Metay C, Quijano-Roy S, Dabaj I, Klug D, Vantyghem MC, Chevalier P, Ambrosi P, Salort E, Sadoul N, Waintraub X, Chikhaoui K, Mabo P, Combes N, Maury P, Sellal JM, Tedrow UB, Kalman JM, Vohra J, Androulakis AFA, Zeppenfeld K, Thompson T, Barnerias C, Bécane HM, Bieth E, Boccara F, Bonnet D, Bouhour F, Boulé S, Brehin AC, Chapon F, Cintas P, Cuisset JM, Davy JM, De Sandre-Giovannoli A, Demurger F, Desguerre I, Dieterich K, Durigneux J, Echaniz-Laguna A, Eschalier R, Ferreiro A, Ferrer X, Francannet C, Fradin M, Gaborit B, Gay A, Hagège A, Isapof A, Jeru I, Juntas Morales R, Lagrue E, Lamblin N, Lascols O, Laugel V, Lazarus A, Leturcq F, Levy N, Magot A, Manel V, Martins R, Mayer M, Mercier S, Meune C, Michaud M, Minot-Myhié MC, Muchir A, Nadaj-Pakleza A, Péréon Y, Petiot P, Petit F, Praline J, Rollin A, Sabouraud P, Sarret C, Schaeffer S, Taithe F, Tard C, Tiffreau V, Toutain A, Vatier C, Walther-Louvier U, Eymard B, Charron P, Vigouroux C, Bonne G, Kumar S, Elliott P, Duboc D.

Circulation. 2019 Jul 23;140(4):293-302. doi: 10.1161/CIRCULATIONAHA.118.039410. Epub 2019 Jun 3.

PMID:
31155932
11.

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Karolak JA, Vincent M, Deutsch G, Gambin T, Cogné B, Pichon O, Vetrini F, Mefford HC, Dines JN, Golden-Grant K, Dipple K, Freed AS, Leppig KA, Dishop M, Mowat D, Bennetts B, Gifford AJ, Weber MA, Lee AF, Boerkoel CF, Bartell TM, Ward-Melver C, Besnard T, Petit F, Bache I, Tümer Z, Denis-Musquer M, Joubert M, Martinovic J, Bénéteau C, Molin A, Carles D, André G, Bieth E, Chassaing N, Devisme L, Chalabreysse L, Pasquier L, Secq V, Don M, Orsaria M, Missirian C, Mortreux J, Sanlaville D, Pons L, Küry S, Bézieau S, Liet JM, Joram N, Bihouée T, Scott DA, Brown CW, Scaglia F, Tsai AC, Grange DK, Phillips JA 3rd, Pfotenhauer JP, Jhangiani SN, Gonzaga-Jauregui CG, Chung WK, Schauer GM, Lipson MH, Mercer CL, van Haeringen A, Liu Q, Popek E, Coban Akdemir ZH, Lupski JR, Szafranski P, Isidor B, Le Caignec C, Stankiewicz P.

Am J Hum Genet. 2019 Feb 7;104(2):213-228. doi: 10.1016/j.ajhg.2018.12.010. Epub 2019 Jan 10.

12.

Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study.

Viguier A, Lauwers-Cances V, Cintas P, Manel V, Peudenier S, Desguerre I, Quijano-Roy S, Vanhulle C, Fradin M, Isapof A, Jokic M, Mathieu-Dramard M, Dieterich K, Petit F, Magdelaine C, Giuliano F, Gras D, Haye D, Nizon M, Magen M, Bieth E, Cances C.

Neuromuscul Disord. 2019 Feb;29(2):114-126. doi: 10.1016/j.nmd.2018.10.002. Epub 2018 Oct 31.

PMID:
30598237
13.

Naevoid acanthosis nigricans or RAVEN (rounded and velvety epidermal naevus) and mosaic FGFR3 and FGFR2 mutations.

Bessis D, Petit A, Battistella M, Bourrat E, Girard C, Pallure V, Marque M, Lacour JP, Vitetta A, Bieth É, Selves J, Solassol J, Vendrell J.

Br J Dermatol. 2019 Apr;180(4):955-957. doi: 10.1111/bjd.17581. Epub 2019 Jan 17. No abstract available.

PMID:
30580445
14.

A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis.

Guissart C, Tran Mau Them F, Debant V, Viart V, Dubucs C, Pritchard V, Rouzier C, Boureau-Wirth A, Haquet E, Puechberty J, Bieth E, Khau Van Kien P, Brechard MP, Raynal C, Girardet A, Claustres M, Koenig M, Vincent MC.

Fetal Diagn Ther. 2019;45(6):403-412. doi: 10.1159/000489776. Epub 2018 Aug 17.

PMID:
30121677
15.

A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes.

Zenagui R, Lacourt D, Pegeot H, Yauy K, Juntas Morales R, Theze C, Rivier F, Cances C, Sole G, Renard D, Walther-Louvier U, Ferrer-Monasterio X, Espil C, Arné-Bes MC, Cintas P, Uro-Coste E, Martin Negrier ML, Rigau V, Bieth E, Goizet C, Claustres M, Koenig M, Cossée M.

J Mol Diagn. 2018 Jul;20(4):533-549. doi: 10.1016/j.jmoldx.2018.04.001. Epub 2018 May 21.

16.

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.

Renaud M, Moreira MC, Ben Monga B, Rodriguez D, Debs R, Charles P, Chaouch M, Ferrat F, Laurencin C, Vercueil L, Mallaret M, M'Zahem A, Pacha LA, Tazir M, Tilikete C, Ollagnon E, Ochsner F, Kuntzer T, Jung HH, Beis JM, Netter JC, Djamshidian A, Bower M, Bottani A, Walsh R, Murphy S, Reiley T, Bieth É, Roelens F, Poll-The BT, Lourenço CM, Jardim LB, Straussberg R, Landrieu P, Roze E, Thobois S, Pouget J, Guissart C, Goizet C, Dürr A, Tranchant C, Koenig M, Anheim M.

JAMA Neurol. 2018 Apr 1;75(4):495-502. doi: 10.1001/jamaneurol.2017.4373.

17.

Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome.

Bar C, Diene G, Molinas C, Bieth E, Casper C, Tauber M.

Orphanet J Rare Dis. 2017 Jun 28;12(1):118. doi: 10.1186/s13023-017-0673-6.

18.

CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.

Claustres M, Thèze C, des Georges M, Baux D, Girodon E, Bienvenu T, Audrezet MP, Dugueperoux I, Férec C, Lalau G, Pagin A, Kitzis A, Thoreau V, Gaston V, Bieth E, Malinge MC, Reboul MP, Fergelot P, Lemonnier L, Mekki C, Fanen P, Bergougnoux A, Sasorith S, Raynal C, Bareil C.

Hum Mutat. 2017 Oct;38(10):1297-1315. doi: 10.1002/humu.23276. Epub 2017 Jun 28.

PMID:
28603918
19.

High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations.

Thevenon J, Laurent G, Ader F, Laforêt P, Klug D, Duva Pentiah A, Gouya L, Maurage CA, Kacet S, Eicher JC, Albuisson J, Desnos M, Bieth E, Duboc D, Martin L, Réant P, Picard F, Bonithon-Kopp C, Gautier E, Binquet C, Thauvin-Robinet C, Faivre L, Bouvagnet P, Charron P, Richard P.

Europace. 2017 Apr 1;19(4):651-659. doi: 10.1093/europace/euw067.

PMID:
28431061
20.

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Küry S, Besnard T, Ebstein F, Khan TN, Gambin T, Douglas J, Bacino CA, Craigen WJ, Sanders SJ, Lehmann A, Latypova X, Khan K, Pacault M, Sacharow S, Glaser K, Bieth E, Perrin-Sabourin L, Jacquemont ML, Cho MT, Roeder E, Denommé-Pichon AS, Monaghan KG, Yuan B, Xia F, Simon S, Bonneau D, Parent P, Gilbert-Dussardier B, Odent S, Toutain A, Pasquier L, Barbouth D, Shaw CA, Patel A, Smith JL, Bi W, Schmitt S, Deb W, Nizon M, Mercier S, Vincent M, Rooryck C, Malan V, Briceño I, Gómez A, Nugent KM, Gibson JB, Cogné B, Lupski JR, Stessman HA, Eichler EE, Retterer K, Yang Y, Redon R, Katsanis N, Rosenfeld JA, Kloetzel PM, Golzio C, Bézieau S, Stankiewicz P, Isidor B.

Am J Hum Genet. 2017 Apr 6;100(4):689. doi: 10.1016/j.ajhg.2017.03.003. No abstract available.

21.

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Küry S, Besnard T, Ebstein F, Khan TN, Gambin T, Douglas J, Bacino CA, Craigen WJ, Sanders SJ, Lehmann A, Latypova X, Khan K, Pacault M, Sacharow S, Glaser K, Bieth E, Perrin-Sabourin L, Jacquemont ML, Cho MT, Roeder E, Denommé-Pichon AS, Monaghan KG, Yuan B, Xia F, Simon S, Bonneau D, Parent P, Gilbert-Dussardier B, Odent S, Toutain A, Pasquier L, Barbouth D, Shaw CA, Patel A, Smith JL, Bi W, Schmitt S, Deb W, Nizon M, Mercier S, Vincent M, Rooryck C, Malan V, Briceño I, Gómez A, Nugent KM, Gibson JB, Cogné B, Lupski JR, Stessman HAF, Eichler EE, Retterer K, Yang Y, Redon R, Katsanis N, Rosenfeld JA, Kloetzel PM, Golzio C, Bézieau S, Stankiewicz P, Isidor B.

Am J Hum Genet. 2017 Feb 2;100(2):352-363. doi: 10.1016/j.ajhg.2017.01.003. Epub 2017 Jan 26. Erratum in: Am J Hum Genet. 2017 Apr 6;100(4):689.

22.

[Fragile X syndrome and white matter abnormalities: Case study of two brothers].

Wallach E, Bieth E, Sevely A, Cances C.

Arch Pediatr. 2017 Mar;24(3):244-248. doi: 10.1016/j.arcped.2016.12.003. Epub 2017 Jan 26. French.

PMID:
28131561
23.

Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation.

Guissart C, Dubucs C, Raynal C, Girardet A, Tran Mau Them F, Debant V, Rouzier C, Boureau-Wirth A, Haquet E, Puechberty J, Bieth E, Dupin Deguine D, Khau Van Kien P, Brechard MP, Pritchard V, Koenig M, Claustres M, Vincent MC.

J Cyst Fibros. 2017 Mar;16(2):198-206. doi: 10.1016/j.jcf.2016.12.011. Epub 2016 Dec 28.

24.

Fibroblast Growth Factor Receptor 3 Epidermal Naevus Syndrome with Urothelial Mosaicism for the Activating p.Ser249Cys FGFR3 Mutation.

Bessis D, Plaisancié J, Gaston V, Bieth E.

Acta Derm Venereol. 2017 Mar 10;97(3):402-403. doi: 10.2340/00015555-2554. No abstract available.

25.

Effect of Genotype and Previous GH Treatment on Adiposity in Adults With Prader-Willi Syndrome.

Coupaye M, Tauber M, Cuisset L, Laurier V, Bieth E, Lacorte JM, Oppert JM, Clément K, Poitou C.

J Clin Endocrinol Metab. 2016 Dec;101(12):4895-4903. Epub 2016 Sep 23.

PMID:
27662437
26.

Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens.

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.

Am J Hum Genet. 2016 Aug 4;99(2):437-42. doi: 10.1016/j.ajhg.2016.06.012. Epub 2016 Jul 28.

27.

SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort.

Tlemsani C, Luscan A, Leulliot N, Bieth E, Afenjar A, Baujat G, Doco-Fenzy M, Goldenberg A, Lacombe D, Lambert L, Odent S, Pasche J, Sigaudy S, Buffet A, Violle-Poirsier C, Briand-Suleau A, Laurendeau I, Chin M, Saugier-Veber P, Vidaud D, Cormier-Daire V, Vidaud M, Pasmant E, Burglen L.

J Med Genet. 2016 Nov;53(11):743-751. doi: 10.1136/jmedgenet-2015-103638. Epub 2016 Jun 17.

PMID:
27317772
28.

The spectrum of renal involvement in male patients with infertility related to excretory-system abnormalities: phenotypes, genotypes, and genetic counseling.

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.

J Nephrol. 2017 Apr;30(2):211-218. doi: 10.1007/s40620-016-0286-5. Epub 2016 Mar 5.

PMID:
26946416
29.

A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients.

Curie A, Brun A, Cheylus A, Reboul A, Nazir T, Bussy G, Delange K, Paulignan Y, Mercier S, David A, Marignier S, Merle L, de Fréminville B, Prieur F, Till M, Mortemousque I, Toutain A, Bieth E, Touraine R, Sanlaville D, Chelly J, Kong J, Ott D, Kassai B, Hadjikhani N, Gollub RL, des Portes V.

PLoS One. 2016 Feb 26;11(2):e0149717. doi: 10.1371/journal.pone.0149717. eCollection 2016.

30.

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.

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, Cartault F, Chassaing N, Ciorca V, Coubes C, David A, Delezoide AL, Dupin-Deguine D, El Chehadeh S, Faivre L, Giuliano F, Goldenberg A, Isidor B, Jacquemont ML, Julia S, Kaplan J, Lacombe D, Lebrun M, Marlin S, Martin-Coignard D, Martinovic J, Masurel A, Melki J, Mozelle-Nivoix M, Nguyen K, Odent S, Philip N, Pinson L, Plessis G, Quélin C, Shaeffer E, Sigaudy S, Thauvin C, Till M, Touraine R, Vigneron J, Baujat G, Cormier-Daire V, Le Merrer M, Geneviève D, Touitou I.

Eur J Hum Genet. 2016 Jul;24(7):992-1000. doi: 10.1038/ejhg.2015.250. Epub 2015 Dec 2.

31.

[Prader-Willi syndrome in 2015].

Tauber M, Thuilleaux D, Bieth É.

Med Sci (Paris). 2015 Oct;31(10):853-60. doi: 10.1051/medsci/20153110011. Epub 2015 Oct 19. Review. French.

32.

Proteus syndrome: Report of a case with AKT1 mutation in a dental cyst.

Valéra MC, Vaysse F, Bieth E, Longy M, Cances C, Bailleul-Forestier I.

Eur J Med Genet. 2015 May;58(5):300-4. doi: 10.1016/j.ejmg.2015.02.008. Epub 2015 Mar 14.

PMID:
25782637
33.

Multi-physiopathological consequences of the c.1392G>T CFTR mutation revealed by clinical and cellular investigations.

Farhat R, El-Seedy A, El-Moussaoui K, Pasquet MC, Adolphe C, Bieth E, Languepin J, Sermet-Gaudelus I, Kitzis A, Ladevèze V.

Biochem Cell Biol. 2015 Feb;93(1):28-37. doi: 10.1139/bcb-2014-0042. Epub 2014 Sep 17.

PMID:
25403292
34.

Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.

Ramos-Brossier M, Montani C, Lebrun N, Gritti L, Martin C, Seminatore-Nole C, Toussaint A, Moreno S, Poirier K, Dorseuil O, Chelly J, Hackett A, Gecz J, Bieth E, Faudet A, Heron D, Frank Kooy R, Loeys B, Humeau Y, Sala C, Billuart P.

Hum Mol Genet. 2015 Feb 15;24(4):1106-18. doi: 10.1093/hmg/ddu523. Epub 2014 Oct 9.

35.

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

Marcos S, Sarfati J, Leroy C, Fouveaut C, Parent P, Metz C, Wolczynski S, Gérard M, Bieth E, Kurtz F, Verier-Mine O, Perrin L, Archambeaud F, Cabrol S, Rodien P, Hove H, Prescott T, Lacombe D, Christin-Maitre S, Touraine P, Hieronimus S, Dewailly D, Young J, Pugeat M, Hardelin JP, Dodé C.

J Clin Endocrinol Metab. 2014 Oct;99(10):E2138-43. doi: 10.1210/jc.2014-2110. Epub 2014 Jul 31. Erratum in: J Clin Endocrinol Metab. 2015 Jan;100(1):317.

PMID:
25077900
36.

Medical, psychological and social features in a large cohort of adults with Prader-Willi syndrome: experience from a dedicated centre in France.

Laurier V, Lapeyrade A, Copet P, Demeer G, Silvie M, Bieth E, Coupaye M, Poitou C, Lorenzini F, Labrousse F, Molinas C, Tauber M, Thuilleaux D, Jauregi J.

J Intellect Disabil Res. 2015 May;59(5):411-21. doi: 10.1111/jir.12140. Epub 2014 Jun 20.

PMID:
24947991
37.

Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome.

Bieth E, Eddiry S, Gaston V, Lorenzini F, Buffet A, Conte Auriol F, Molinas C, Cailley D, Rooryck C, Arveiler B, Cavaillé J, Salles JP, Tauber M.

Eur J Hum Genet. 2015 Feb;23(2):252-5. doi: 10.1038/ejhg.2014.103. Epub 2014 Jun 11.

38.

New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity.

Vuillaume ML, Naudion S, Banneau G, Diene G, Cartault A, Cailley D, Bouron J, Toutain J, Bourrouillou G, Vigouroux A, Bouneau L, Nacka F, Kieffer I, Arveiler B, Knoll-Gellida A, Babin PJ, Bieth E, Jouret B, Julia S, Sarda P, Geneviève D, Faivre L, Lacombe D, Barat P, Tauber M, Delrue MA, Rooryck C.

Am J Med Genet A. 2014 Aug;164A(8):1965-75. doi: 10.1002/ajmg.a.36587. Epub 2014 Apr 29.

PMID:
24782328
39.

Identification of a novel 5' alternative CFTR mRNA isoform in a patient with nasal polyposis and CFTR mutations.

Hinzpeter A, de Becdelièvre A, Bieth E, Gameiro C, Brémont F, Martin N, Costes B, Costa C, Aissat A, Lorot A, Prulière-Escabasse V, Goossens M, Fanen P, Girodon E.

Hum Mutat. 2014 Jul;35(7):805-8. doi: 10.1002/humu.22548. Epub 2014 Apr 9.

40.

Lethal form of keratitis-ichthyosis-deafness syndrome caused by the GJB2 mutation p.Ser17Phe.

Mazereeuw-Hautier J, Chiaverini C, Jonca N, Bieth E, Dreyfus I, Maza A, Cardot-Leccia N, Perrin C, Lacour JP.

Acta Derm Venereol. 2014 Sep;94(5):591-2. doi: 10.2340/00015555-1818. No abstract available.

41.

The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.

Curie A, Nazir T, Brun A, Paulignan Y, Reboul A, Delange K, Cheylus A, Bertrand S, Rochefort F, Bussy G, Marignier S, Lacombe D, Chiron C, Cossée M, Leheup B, Philippe C, Laugel V, De Saint Martin A, Sacco S, Poirier K, Bienvenu T, Souville I, Gilbert-Dussardier B, Bieth E, Kauffmann D, Briot P, de Fréminville B, Prieur F, Till M, Rooryck-Thambo C, Mortemousque I, Bobillier-Chaumont I, Toutain A, Touraine R, Sanlaville D, Chelly J, Freeman S, Kong J, Hadjikhani N, Gollub RL, Roy A, des Portes V.

Orphanet J Rare Dis. 2014 Feb 14;9:25. doi: 10.1186/1750-1172-9-25.

42.

Distal 10q monosomy: new evidence for a neurobehavioral condition?

Plaisancié J, Bouneau L, Cances C, Garnier C, Benesteau J, Leonard S, Bourrouillou G, Calvas P, Vigouroux A, Julia S, Bieth E.

Eur J Med Genet. 2014 Jan;57(1):47-53. doi: 10.1016/j.ejmg.2013.11.002. Epub 2013 Nov 23.

PMID:
24275544
43.

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.

Mignot C, Apartis E, Durr A, Marques Lourenço C, Charles P, Devos D, Moreau C, de Lonlay P, Drouot N, Burglen L, Kempf N, Nourisson E, Chantot-Bastaraud S, Lebre AS, Rio M, Chaix Y, Bieth E, Roze E, Bonnet I, Canaple S, Rastel C, Brice A, Rötig A, Desguerre I, Tranchant C, Koenig M, Anheim M.

Orphanet J Rare Dis. 2013 Oct 28;8:173. doi: 10.1186/1750-1172-8-173.

44.

SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.

Morice-Picard F, Lasseaux E, François S, Simon D, Rooryck C, Bieth E, Colin E, Bonneau D, Journel H, Walraedt S, Leroy BP, Meire F, Lacombe D, Arveiler B.

J Invest Dermatol. 2014 Feb;134(2):568-571. doi: 10.1038/jid.2013.360. Epub 2013 Aug 28. No abstract available.

45.

Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of Holt-Oram and ulnar-mammary syndromes.

Alby C, Bessieres B, Bieth E, Attie-Bitach T, Fermont L, Citony I, Razavi F, Vekemans M, Escande F, Manouvrier S, Malan V, Amiel J.

Am J Med Genet A. 2013 Jul;161A(7):1797-802. doi: 10.1002/ajmg.a.36054. Epub 2013 May 24.

PMID:
23713051
46.

Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.

Cottereau E, Mortemousque I, Moizard MP, Bürglen L, Lacombe D, Gilbert-Dussardier B, Sigaudy S, Boute O, David A, Faivre L, Amiel J, Robertson R, Viana Ramos F, Bieth E, Odent S, Demeer B, Mathieu M, Gaillard D, Van Maldergem L, Baujat G, Maystadt I, Héron D, Verloes A, Philip N, Cormier-Daire V, Frouté MF, Pinson L, Blanchet P, Sarda P, Willems M, Jacquinet A, Ratbi I, Van Den Ende J, Lackmy-Port Lis M, Goldenberg A, Bonneau D, Rossignol S, Toutain A.

Am J Med Genet C Semin Med Genet. 2013 May;163C(2):92-105. doi: 10.1002/ajmg.c.31360. Epub 2013 Apr 18. Review.

PMID:
23606591
47.

Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.

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, Verloes A, Jonveaux P, Martin-Coignard D, Colin E, Bieth E, Calvas P, Chassaing N.

Am J Med Genet A. 2013 Apr;161A(4):671-8. doi: 10.1002/ajmg.a.35747. Epub 2013 Feb 7.

PMID:
23401279
48.

CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders.

Thauvin-Robinet C, Munck A, Huet F, de Becdelièvre A, Jimenez C, Lalau G, Gautier E, Rollet J, Flori J, Nové-Josserand R, Soufir JC, Haloun A, Hubert D, Houssin E, Bellis G, Rault G, David A, Janny L, Chiron R, Rives N, Hairion D, Collignon P, Valeri A, Karsenty G, Rossi A, Audrézet MP, Férec C, Leclerc J, Georges Md, Claustres M, Bienvenu T, Gérard B, Boisseau P, Cabet-Bey F, Cheillan D, Feldmann D, Clavel C, Bieth E, Iron A, Simon-Bouy B, Izard V, Steffann J, Viville S, Costa C, Drouineaud V, Fauque P, Binquet C, Bonithon-Kopp C, Morris MA, Faivre L, Goossens M, Roussey M, Girodon E; collaborating working group on p.Arg117His.

J Med Genet. 2013 Apr;50(4):220-7. doi: 10.1136/jmedgenet-2012-101427. Epub 2013 Feb 1.

PMID:
23378603
49.

Consequences of partial duplications of the human CFTR gene on cf diagnosis: mutations or ectopic variations.

El-Seedy A, Pasquet MC, Bienvenu T, Bieth E, Audrezet MP, Kitzis A, Ladeveze V.

J Cyst Fibros. 2013 Jul;12(4):407-10. doi: 10.1016/j.jcf.2012.11.006. Epub 2012 Dec 21.

50.

Alternative splicing of in-frame exon associated with premature termination codons: implications for readthrough therapies.

Hinzpeter A, Aissat A, de Becdelièvre A, Bieth E, Sondo E, Martin N, Costes B, Costa C, Goossens M, Galietta LJ, Girodon E, Fanen P.

Hum Mutat. 2013 Feb;34(2):287-91. doi: 10.1002/humu.22236. Epub 2012 Nov 8.

PMID:
23065710

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