Isidor B - Search Results

1

Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.

Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, Stevens R, Gillerot Y, Héron D, Héron B, Benzacken B, Lacombe D, Brunner H, Bitoun P. Verloes A, et al. Among authors: isidor b. Am J Med Genet A. 2006 Jun 15;140(12):1285-96. doi: 10.1002/ajmg.a.31270. Am J Med Genet A. 2006. PMID: 16700052

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

Cone-rod dystrophy, growth hormone deficiency and spondyloepiphyseal dysplasia: report of a new case without nephronophtisis.

Isidor B, Le Merrer M, Ramos E, Baron S, David A. Isidor B, et al. Am J Med Genet A. 2009 Feb 15;149A(4):788-92. doi: 10.1002/ajmg.a.32343. Am J Med Genet A. 2009. PMID: 18478593 No abstract available.

7

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

8

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

9

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.

de Pontual L, Mathieu Y, Golzio C, Rio M, Malan V, Boddaert N, Soufflet C, Picard C, Durandy A, Dobbie A, Heron D, Isidor B, Motte J, Newburry-Ecob R, Pasquier L, Tardieu M, Viot G, Jaubert F, Munnich A, Colleaux L, Vekemans M, Etchevers H, Lyonnet S, Amiel J. de Pontual L, et al. Among authors: isidor b. Hum Mutat. 2009 Apr;30(4):669-76. doi: 10.1002/humu.20935. Hum Mutat. 2009. PMID: 19235238

10

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

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