Drouin-Garraud V - Search Results

1

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

2

[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.

3

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

4

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

5

Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation.

Saugier-Veber P, Goldenberg A, Drouin-Garraud V, de La Rochebrochard C, Layet V, Drouot N, Le Meur N, Gilbert-Du-Ssardier B, Joly-Hélas G, Moirot H, Rossi A, Tosi M, Frébourg T. Saugier-Veber P, et al. Eur J Hum Genet. 2006 Sep;14(9):1009-17. doi: 10.1038/sj.ejhg.5201661. Epub 2006 Jun 14. Eur J Hum Genet. 2006. PMID: 16773131

6

Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.

Raux G, Bumsel E, Hecketsweiler B, van Amelsvoort T, Zinkstok J, Manouvrier-Hanu S, Fantini C, Brévière GM, Di Rosa G, Pustorino G, Vogels A, Swillen A, Legallic S, Bou J, Opolczynski G, Drouin-Garraud V, Lemarchand M, Philip N, Gérard-Desplanches A, Carlier M, Philippe A, Nolen MC, Heron D, Sarda P, Lacombe D, Coizet C, Alembik Y, Layet V, Afenjar A, Hannequin D, Demily C, Petit M, Thibaut F, Frebourg T, Campion D. Raux G, et al. Hum Mol Genet. 2007 Jan 1;16(1):83-91. doi: 10.1093/hmg/ddl443. Epub 2006 Nov 29. Hum Mol Genet. 2007. PMID: 17135275

7

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

8

ZDHHC8 single nucleotide polymorphism rs175174 is not associated with psychiatric features of the 22q11 deletion syndrome or schizophrenia.

Demily C, Legallic S, Bou J, Houy-Durand E, Van Amelsvoort T, Zinkstok J, Manouvrier-Hanue S, Vogels A, Drouin-Garraud V, Philip N, Philippe A, Héron D, Sarda P, Petit M, Thibaut F, Frébourg T, Campion D. Demily C, et al. Psychiatr Genet. 2007 Oct;17(5):311-2. doi: 10.1097/YPG.0b013e328133f369. Psychiatr Genet. 2007. PMID: 17728672 No abstract available.

9

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

10

Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.

Laugel V, Dalloz C, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Valayannopoulos V, Sarasin A, Dollfus H. Laugel V, et al. J Med Genet. 2008 Sep;45(9):564-71. doi: 10.1136/jmg.2007.057141. Epub 2008 Jul 15. J Med Genet. 2008. PMID: 18628313

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