Le Caignec C - Search Results

1

De novo duplication and deletions at 7q in a three-generation family.

Isidor B, Villa O, Pichon O, Briand A, Poulain D, Boisseau P, Pérez-Jurado LA, Le Caignec C. Isidor B, et al. Among authors: le caignec c. Am J Med Genet A. 2012 Jun;158A(6):1493-7. doi: 10.1002/ajmg.a.35332. Epub 2012 May 10. Am J Med Genet A. 2012. PMID: 22577094 No abstract available.

2

Subtelomeric 6p deletion: clinical, FISH, and array CGH characterization of two cases.

Le Caignec C, De Mas P, Vincent MC, Bocéno M, Bourrouillou G, Rival JM, David A. Le Caignec C, et al. Am J Med Genet A. 2005 Jan 15;132A(2):175-80. doi: 10.1002/ajmg.a.30409. Am J Med Genet A. 2005. PMID: 15578619 Review.

3

Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations.

Le Caignec C, Boceno M, Saugier-Veber P, Jacquemont S, Joubert M, David A, Frebourg T, Rival JM. Le Caignec C, et al. J Med Genet. 2005 Feb;42(2):121-8. doi: 10.1136/jmg.2004.025478. J Med Genet. 2005. PMID: 15689449 Free PMC article.

4

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. Among authors: le caignec c. 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

5

Complete sex reversal in a WAGR syndrome patient.

Le Caignec C, Delnatte C, Vermeesch JR, Boceno M, Joubert M, Lavenant F, David A, Rival JM. Le Caignec C, et al. Am J Med Genet A. 2007 Nov 15;143A(22):2692-5. doi: 10.1002/ajmg.a.31997. Am J Med Genet A. 2007. PMID: 17935232

6

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. 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

7

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. Among authors: le caignec c. 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

8

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. Among authors: le caignec c, le merrer m. 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

9

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. Among authors: le cunff m, le caignec c. 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

10

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: le caignec c. 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

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