Bocéno M - Search Results

1

Familial congenital pulmonary lymphangectasia, non-immune hydrops fetalis, facial and lower limb lymphedema: confirmation of Njolstad's report.

Jacquemont S, Barbarot S, Bocéno M, Stalder JF, David A. Jacquemont S, et al. Among authors: boceno m. Am J Med Genet. 2000 Aug 14;93(4):264-8. Am J Med Genet. 2000. PMID: 10946350

2

High risk of malignancy in mosaic variegated aneuploidy syndrome.

Jacquemont S, Bocéno M, Rival JM, Méchinaud F, David A. Jacquemont S, et al. Among authors: boceno m. Am J Med Genet. 2002 Apr 15;109(1):17-21; discussion 16. doi: 10.1002/ajmg.10281. Am J Med Genet. 2002. PMID: 11932988 Review.

3

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. Among authors: boceno m. 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.

4

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. Among authors: boceno m. J Med Genet. 2005 Feb;42(2):121-8. doi: 10.1136/jmg.2004.025478. J Med Genet. 2005. PMID: 15689449 Free PMC article.

5

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: boceno m. 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

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. Among authors: boceno m. 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

Inherited ring chromosome 8 without loss of subtelomeric sequences.

Le Caignec C, Boceno M, Jacquemont S, Nguyen The Tich S, Rival JM, David A. Le Caignec C, et al. Among authors: boceno m. Ann Genet. 2004 Jul-Sep;47(3):289-96. doi: 10.1016/j.anngen.2003.10.005. Ann Genet. 2004. PMID: 15337475 Review.

8

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. Among authors: boceno m. 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

9

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: boceno m. 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

10

Characterization of two add(4qter) chromosomes by comparative genomic hybridization.

Bocéno M, Rival JM, Nomballais MF, David A, Avet-Loiseau H. Bocéno M, et al. Ann Genet. 1998;41(2):83-6. Ann Genet. 1998. PMID: 9706338

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