Bézieau S - Search Results

1

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.

Hsieh TC, Bar-Haim A, Moosa S, Ehmke N, Gripp KW, Pantel JT, Danyel M, Mensah MA, Horn D, Rosnev S, Fleischer N, Bonini G, Hustinx A, Schmid A, Knaus A, Javanmardi B, Klinkhammer H, Lesmann H, Sivalingam S, Kamphans T, Meiswinkel W, Ebstein F, Krüger E, Küry S, Bézieau S, Schmidt A, Peters S, Engels H, Mangold E, Kreiß M, Cremer K, Perne C, Betz RC, Bender T, Grundmann-Hauser K, Haack TB, Wagner M, Brunet T, Bentzen HB, Averdunk L, Coetzer KC, Lyon GJ, Spielmann M, Schaaf CP, Mundlos S, Nöthen MM, Krawitz PM. Hsieh TC, et al. Among authors: bezieau s. Nat Genet. 2022 Mar;54(3):349-357. doi: 10.1038/s41588-021-01010-x. Epub 2022 Feb 10. Nat Genet. 2022. PMID: 35145301 Free PMC article.

2

Identification of SLC39A4, a gene involved in acrodermatitis enteropathica.

Küry S, Dréno B, Bézieau S, Giraudet S, Kharfi M, Kamoun R, Moisan JP. Küry S, et al. Among authors: bezieau s. Nat Genet. 2002 Jul;31(3):239-40. doi: 10.1038/ng913. Epub 2002 Jun 17. Nat Genet. 2002. PMID: 12068297

3

An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica.

Schmitt S, Küry S, Giraud M, Dréno B, Kharfi M, Bézieau S. Schmitt S, et al. Among authors: bezieau s. Hum Mutat. 2009 Jun;30(6):926-33. doi: 10.1002/humu.20988. Hum Mutat. 2009. PMID: 19370757 Review.

4

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.

Isidor B, Lindenbaum P, Pichon O, Bézieau S, Dina C, Jacquemont S, Martin-Coignard D, Thauvin-Robinet C, Le Merrer M, Mandel JL, David A, Faivre L, Cormier-Daire V, Redon R, Le Caignec C. Isidor B, et al. Among authors: bezieau s. Nat Genet. 2011 Mar 6;43(4):306-8. doi: 10.1038/ng.778. Nat Genet. 2011. PMID: 21378989

5

Clinical utility gene card for: acrodermatitis enteropathica.

Küry S, Kharfi M, Schmitt S, Bézieau S. Küry S, et al. Among authors: bezieau s. Eur J Hum Genet. 2012 Mar;20(3). doi: 10.1038/ejhg.2011.227. Epub 2011 Dec 14. Eur J Hum Genet. 2012. PMID: 22166942 Free PMC article. No abstract available.

6

Clinical utility gene card for: biotinidase deficiency.

Küry S, Ramaekers V, Bézieau S, Wolf B. Küry S, et al. Among authors: bezieau s. Eur J Hum Genet. 2012 May;20(5). doi: 10.1038/ejhg.2012.28. Epub 2012 Feb 29. Eur J Hum Genet. 2012. PMID: 22378278 Free PMC article. No abstract available.

7

A de novo germline MLH1 mutation in a Lynch syndrome patient with discordant immunohistochemical and molecular biology test results.

Airaud F, Küry S, Valo I, Maury I, Bonneau D, Ingster O, Bezieau S. Airaud F, et al. Among authors: bezieau s. World J Gastroenterol. 2012 Oct 21;18(39):5635-9. doi: 10.3748/wjg.v18.i39.5635. World J Gastroenterol. 2012. PMID: 23112559 Free PMC article.

8

Reappraisal of the so-called 'villous tumours' of the rectosigmoid, based on histological, immunohistochemical and genotypic features.

Droy-Dupré L, Küry S, Coron E, Bézieau S, Laboisse CL, Mosnier JF. Droy-Dupré L, et al. Among authors: bezieau s. United European Gastroenterol J. 2014 Aug;2(4):307-14. doi: 10.1177/2050640614541258. United European Gastroenterol J. 2014. PMID: 25083289 Free PMC article.

9

Clinical zinc deficiency as early presentation of Wilson disease.

Van Biervliet S, Küry S, De Bruyne R, Vanakker OM, Schmitt S, Vande Velde S, Blouin E, Bézieau S. Van Biervliet S, et al. Among authors: bezieau s. J Pediatr Gastroenterol Nutr. 2015 Apr;60(4):457-9. doi: 10.1097/MPG.0000000000000628. J Pediatr Gastroenterol Nutr. 2015. PMID: 25825851

10

CUGC for hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP).

Küry S, Mercier S, Shaboodien G, Besnard T, Barbarot S, Khumalo NP, Mayosi BM, Bézieau S. Küry S, et al. Among authors: bezieau s. Eur J Hum Genet. 2016 May;24(5). doi: 10.1038/ejhg.2015.205. Epub 2015 Oct 7. Eur J Hum Genet. 2016. PMID: 26443268 Free PMC article. No abstract available.

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