Isidor B - Search Results

1

Adegbola A, Musante L, Callewaert B, Maciel P, Hu H, Isidor B, Picker-Minh S, Le Caignec C, Delle Chiaie B, Vanakker O, Menten B, Dheedene A, Bockaert N, Roelens F, Decaestecker K, Silva J, Soares G, Lopes F, Najmabadi H, Kahrizi K, Cox GF, Angus SP, Staropoli JF, Fischer U, Suckow V, Bartsch O, Chess A, Ropers HH, Wienker TF, Hübner C, Kaindl AM, Kalscheuer VM. Adegbola A, et al. Among authors: isidor b. Eur J Hum Genet. 2015 Oct;23(10):1308-17. doi: 10.1038/ejhg.2015.26. Epub 2015 Mar 11. Eur J Hum Genet. 2015. PMID: 25758992 Free PMC 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

Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene.

Winer N, Kyndt F, Paumier A, David A, Isidor B, Quentin M, Jouitteau B, Sanyas P, Philippe HJ, Hernandez A, Krakow D, Le Caignec C. Winer N, et al. Among authors: isidor b. Prenat Diagn. 2009 Feb;29(2):172-4. doi: 10.1002/pd.2164. Prenat Diagn. 2009. PMID: 19085972 Free PMC article. No abstract available.

9

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

10

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

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