David A - Search Results

1

46,XY pure gonadal dysgenesis: clinical presentations and management of the tumor risk.

Capito C, Leclair MD, Arnaud A, David A, Baron S, Corradini N, Héloury Y. Capito C, et al. Among authors: david a. J Pediatr Urol. 2011 Feb;7(1):72-5. doi: 10.1016/j.jpurol.2010.01.010. Epub 2010 Feb 11. J Pediatr Urol. 2011. PMID: 20153258

2

Familial frameshift SRY mutation inherited from a mosaic father with testicular dysgenesis syndrome.

Isidor B, Capito C, Paris F, Baron S, Corradini N, Cabaret B, Leclair MD, Giraud M, Martin-Coignard D, David A, Sultan C, Le Caignec C. Isidor B, et al. Among authors: david a. J Clin Endocrinol Metab. 2009 Sep;94(9):3467-71. doi: 10.1210/jc.2009-0226. Epub 2009 Jun 16. J Clin Endocrinol Metab. 2009. PMID: 19531589

3

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

4

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

5

Constitutional telomeric association (Y;7) in a patient with a female phenotype.

Beneteau C, Baron S, David A, Jossic F, Poulain D, Schmitt S, Leclair MD, Piloquet P, Le Caignec C. Beneteau C, et al. Among authors: david a. Am J Med Genet A. 2013 Jun;161A(6):1436-41. doi: 10.1002/ajmg.a.35889. Epub 2013 Apr 23. Am J Med Genet A. 2013. PMID: 23613342 Review.

6

Hereditary pancreatitis in children: surgical implications with special regard to genetic background.

Schmitt F, Le Henaff G, Piloquet H, Leclair MD, David A, Heloury Y, Podevin G. Schmitt F, et al. Among authors: david a. J Pediatr Surg. 2009 Nov;44(11):2078-82. doi: 10.1016/j.jpedsurg.2009.05.023. J Pediatr Surg. 2009. PMID: 19944211

7

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. Among authors: david a. 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.

8

Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9.

Lecointre C, Pichon O, Hamel A, Heloury Y, Michel-Calemard L, Morel Y, David A, Le Caignec C. Lecointre C, et al. Among authors: david a. Am J Med Genet A. 2009 Jun;149A(6):1183-9. doi: 10.1002/ajmg.a.32830. Am J Med Genet A. 2009. PMID: 19449405

9

Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy.

Isidor B, Baron S, Khau van Kien P, Bertrand AM, David A, Le Merrer M. Isidor B, et al. Among authors: david a. Am J Med Genet A. 2010 Jun;152A(6):1550-4. doi: 10.1002/ajmg.a.33397. Am J Med Genet A. 2010. PMID: 20503334

10

Homozygous PTEN deletion in neuroblastoma arising in a child with Cowden syndrome.

Bourdeaut F, Isidor B, Ferrand S, Thomas C, Moreau A, Leclair MD, David A, Pierron G, Le Caignec C, Delattre O. Bourdeaut F, et al. Among authors: david a. Am J Med Genet A. 2011 Jul;155A(7):1763-6. doi: 10.1002/ajmg.a.34066. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671387 No abstract available.

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