Isidor B - Search Results

1

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.

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, Rio M, Attie-Bitach T, Lesage C, Thouvenin D, Odent S, Morel G, Vincent-Delorme C, Boute O, Vanlerberghe C, Dieux A, Boussion S, Faivre L, Pinson L, Laffargue F, Le Guyader G, Le Meur G, Prieur F, Lambert V, Laudier B, Cottereau E, Ayuso C, Corton-Pérez M, Bouneau L, Le Caignec C, Gaston V, Jeanton-Scaramouche C, Dupin-Deguine D, Calvas P, Chassaing N, Plaisancié J. Chesneau B, et al. Among authors: isidor b. Clin Genet. 2022 May;101(5-6):494-506. doi: 10.1111/cge.14123. Epub 2022 Feb 27. Clin Genet. 2022. PMID: 35170016 Free article.

2

Genochondromatosis type II: report of a new patient and further delineation of the phenotype.

Isidor B, Guillard S, Hamel A, Le Caignec C, David A. Isidor B, et al. Am J Med Genet A. 2007 Aug 15;143A(16):1919-21. doi: 10.1002/ajmg.a.31854. Am J Med Genet A. 2007. PMID: 17632779

3

Third case of paternal isodisomy for chromosome 7 with cystic fibrosis: a new patient presenting with normal growth.

Le Caignec C, Isidor B, de Pontbriand U, David V, Audrezet MP, Ferec C, David A. Le Caignec C, et al. Among authors: isidor b. Am J Med Genet A. 2007 Nov 15;143A(22):2696-9. doi: 10.1002/ajmg.a.31999. Am J Med Genet A. 2007. PMID: 17935233

4

Inherited 18q23 duplication in a fetus with multiple congenital anomalies.

Isidor B, Winer N, Joubert M, Boisseau P, Le Caignec C, Bocéno M, Fallet C, David A, Rival JM. Isidor B, et al. Eur J Med Genet. 2008 May-Jun;51(3):231-8. doi: 10.1016/j.ejmg.2007.12.010. Epub 2008 Jan 12. Eur J Med Genet. 2008. PMID: 18282818

5

Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity.

Isidor B, Cormier-Daire V, Le Merrer M, Lefrancois T, Hamel A, Le Caignec C, David A, Jacquemont S. Isidor B, et al. Am J Med Genet A. 2008 Jun 15;146A(12):1593-7. doi: 10.1002/ajmg.a.32217. Am J Med Genet A. 2008. PMID: 18470895

6

Complex constitutional subtelomeric 1p36.3 deletion/duplication in a mentally retarded child with neonatal neuroblastoma.

Isidor B, Le Cunff M, Boceno M, Boisseau P, Thomas C, Rival JM, David A, Le Caignec C. Isidor B, et al. Eur J Med Genet. 2008 Nov-Dec;51(6):679-84. doi: 10.1016/j.ejmg.2008.06.004. Epub 2008 Jul 11. Eur J Med Genet. 2008. PMID: 18672103

7

A 8.26Mb deletion in 6q16 and a 4.95Mb deletion in 20p12 including JAG1 and BMP2 in a patient with Alagille syndrome and Wolff-Parkinson-White syndrome.

Le Gloan L, Pichon O, Isidor B, Boceno M, Rival JM, David A, Le Caignec C. Le Gloan L, et al. Among authors: isidor b. Eur J Med Genet. 2008 Nov-Dec;51(6):651-7. doi: 10.1016/j.ejmg.2008.07.012. Epub 2008 Aug 15. Eur J Med Genet. 2008. PMID: 18775522

8

Congenital skin pedicles with or without amniotic band sequence: Extending the human phenotype resembling mouse disorganization.

Isidor B, Baujat G, Le Caignec C, Pichon O, Martin-Coignard D, Toutain A, David A. Isidor B, et al. Am J Med Genet A. 2009 Aug;149A(8):1734-9. doi: 10.1002/ajmg.a.32796. Am J Med Genet A. 2009. PMID: 19449403

9

Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia.

Isidor B, Pichon O, Baron S, David A, Le Caignec C. Isidor B, et al. Am J Med Genet A. 2010 Jan;152A(1):175-80. doi: 10.1002/ajmg.a.33152. Am J Med Genet A. 2010. PMID: 20014135

10

Delineation of 15q13.3 microdeletions.

Masurel-Paulet A, Andrieux J, Callier P, Cuisset JM, Le Caignec C, Holder M, Thauvin-Robinet C, Doray B, Flori E, Alex-Cordier MP, Beri M, Boute O, Delobel B, Dieux A, Vallee L, Jaillard S, Odent S, Isidor B, Beneteau C, Vigneron J, Bilan F, Gilbert-Dussardier B, Dubourg C, Labalme A, Bidon C, Gautier A, Pernes P, Pinoit JM, Huet F, Mugneret F, Aral B, Jonveaux P, Sanlaville D, Faivre L. Masurel-Paulet A, et al. Among authors: isidor b. Clin Genet. 2010 Aug;78(2):149-61. doi: 10.1111/j.1399-0004.2010.01374.x. Epub 2010 Feb 9. Clin Genet. 2010. PMID: 20236110

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