David A - Search Results

1

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.

Isidor B, Lindenbaum P, Pichon O, Bézieau S, Dina C, Jacquemont S, Martin-Coignard D, Thauvin-Robinet C, Le Merrer M, Mandel JL, David A, Faivre L, Cormier-Daire V, Redon R, Le Caignec C. Isidor B, et al. Among authors: david a. Nat Genet. 2011 Mar 6;43(4):306-8. doi: 10.1038/ng.778. Nat Genet. 2011. PMID: 21378989

2

Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance.

Viot G, Lacombe D, David A, Mathieu M, de Broca A, Faivre L, Gigarel N, Munnich A, Lyonnet S, Le Merrer M, Cormier-Daire V. Viot G, et al. Among authors: david a. Am J Med Genet. 2002 Jan 1;107(1):1-4. doi: 10.1002/ajmg.10028. Am J Med Genet. 2002. PMID: 11807859

3

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: david a. 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.

4

46,XY gonadal dysgenesis: evidence for autosomal dominant transmission in a large kindred.

Le Caignec C, Baron S, McElreavey K, Joubert M, Rival JM, Mechinaud F, David A. Le Caignec C, et al. Among authors: david a. Am J Med Genet A. 2003 Jan 1;116A(1):37-43. doi: 10.1002/ajmg.a.10820. Am J Med Genet A. 2003. PMID: 12476449

5

Hajdu-Cheney syndrome and syringomyelia. Case report.

Faure A, David A, Moussally F, Khalfallah M, Jacquemont S, Hamel O, Conti M, Hamel A, Raoul S, Robert R. Faure A, et al. Among authors: david a. J Neurosurg. 2002 Dec;97(6):1441-6. doi: 10.3171/jns.2002.97.6.1441. J Neurosurg. 2002. PMID: 12507146 Review.

6

Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations.

Giuliano F, David A, Edery P, Sigaudy S, Bonneau D, Cormier-Daire V, Philip N. Giuliano F, et al. Among authors: david a. Am J Med Genet A. 2004 Apr 1;126A(1):99-103. doi: 10.1002/ajmg.a.20551. Am J Med Genet A. 2004. PMID: 15039980

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: david a. Ann Genet. 2004 Jul-Sep;47(3):289-96. doi: 10.1016/j.anngen.2003.10.005. Ann Genet. 2004. PMID: 15337475 Review.

8

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: david a. 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.

9

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: david a. 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

10

Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome.

Buisson P, Leclair MD, Jacquemont S, Podevin G, Camby C, David A, Heloury Y. Buisson P, et al. Among authors: david a. J Pediatr Surg. 2006 Sep;41(9):1601-3. doi: 10.1016/j.jpedsurg.2006.05.013. J Pediatr Surg. 2006. PMID: 16952599

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

3,347 results

Search Page