Drouin-Garraud V - Search Results

1

[Focal dermal hypoplasia: description of three cases].

Barre V, Drouin-Garraud V, Marret S, Young P, Bachy B, Lechevallier J, Fessard C. Barre V, et al. Arch Pediatr. 1998 May;5(5):513-6. doi: 10.1016/s0929-693x(99)80316-9. Arch Pediatr. 1998. PMID: 9759185 French.

2

[Aniridia and Wilms tumor: 2 cases of fetal rhabdomyomatous nephroblastoma].

Schneider P, Drouin-Garraud V, Bachy B, Brasseur G, Lahsinat K, Hemet J, Vannier JP, Tron P. Schneider P, et al. Arch Pediatr. 1996 Dec;3(12):1243-7. doi: 10.1016/s0929-693x(97)85935-0. Arch Pediatr. 1996. PMID: 9033789 French.

3

Goldenhar syndrome and neuroblastoma: a chance association?

Michel-Adde C, Laquerrière A, Eurin D, Drouin-Garraud V, Marret S. Michel-Adde C, et al. Acta Paediatr. 2003 Oct;92(10):1223-5. doi: 10.1080/08035250310005729. Acta Paediatr. 2003. PMID: 14632345

4

Molecular characterization of a 14q deletion in a boy with features of Holt-Oram syndrome.

Le Meur N, Goldenberg A, Michel-Adde C, Drouin-Garraud V, Blaysat G, Marret S, Amara SA, Moirot H, Joly-Hélas G, Mace B, Kleinfinger P, Saugier-Veber P, Frébourg T, Rossi A. Le Meur N, et al. Am J Med Genet A. 2005 May 1;134(4):439-42. doi: 10.1002/ajmg.a.30660. Am J Med Genet A. 2005. PMID: 15810003

5

Prenatal revelation of Niemann-Pick disease type C in siblings.

Moreno R, Lardennois C, Drouin-Garraud V, Verspyck E, Marret S, Laquerrière A. Moreno R, et al. Acta Paediatr. 2008 Aug;97(8):1136-9. doi: 10.1111/j.1651-2227.2008.00829.x. Epub 2008 Jun 28. Acta Paediatr. 2008. PMID: 18554276

6

Ovarian fibromatosis and sotos syndrome with a new genetic mutation.

Beurdeley M, Sabourin JC, Drouin-Garraud V, Liard A, Bachy B, Vivier PH. Beurdeley M, et al. J Pediatr Adolesc Gynecol. 2013 Apr;26(2):e39-41. doi: 10.1016/j.jpag.2012.11.012. Epub 2013 Jan 16. J Pediatr Adolesc Gynecol. 2013. PMID: 23333153

7

Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.

Léger S, Balguerie X, Goldenberg A, Drouin-Garraud V, Cabot A, Amstutz-Montadert I, Young P, Joly P, Bodereau V, Holder-Espinasse M, Jamieson RV, Krause A, Chen H, Baumann C, Nunes L, Dollfus H, Goossens M, Pingault V. Léger S, et al. Eur J Hum Genet. 2012 May;20(5):584-7. doi: 10.1038/ejhg.2011.234. Epub 2012 Jan 18. Eur J Hum Genet. 2012. PMID: 22258527 Free PMC article.

8

Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations.

Coursimault J, Lecoquierre F, Saugier-Veber P, Drouin-Garraud V, Lechevallier J, Boland A, Deleuze JF, Frebourg T, Nicolas G, Brehin AC. Coursimault J, et al. Among authors: drouin garraud v. Eur J Med Genet. 2021 Apr;64(4):104166. doi: 10.1016/j.ejmg.2021.104166. Epub 2021 Feb 9. Eur J Med Genet. 2021. PMID: 33571694

9

Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.

Drouin-Garraud V, Belgrand M, Grünewald S, Seta N, Dacher JN, Hénocq A, Matthijs G, Cormier-Daire V, Frébourg T, Saugier-Veber P. Drouin-Garraud V, et al. Am J Med Genet. 2001 Jun 1;101(1):46-9. doi: 10.1002/ajmg.1298. Am J Med Genet. 2001. PMID: 11343337

10

Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.

Saugier-Veber P, Bonnet C, Afenjar A, Drouin-Garraud V, Coubes C, Fehrenbach S, Holder-Espinasse M, Roume J, Malan V, Portnoi MF, Jeanne N, Baumann C, Héron D, David A, Gérard M, Bonneau D, Lacombe D, Cormier-Daire V, Billette de Villemeur T, Frébourg T, Bürglen L. Saugier-Veber P, et al. Hum Mutat. 2007 Nov;28(11):1098-107. doi: 10.1002/humu.20568. Hum Mutat. 2007. PMID: 17565729

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