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Page 1
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
[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.
Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome.
Guimiot F, Marcorelles P, Aboura A, Bonyhay G, Patrier S, Menez F, Drouin-Garraud V, Icowick V, Eurin D, Garel C, Moirot H, Verspyck E, Saugier-Veber P, Attie-Bitach T, Picone O, Oury JF, Verloes A, Delezoide AL, Laquerrière A. Guimiot F, et al. Am J Med Genet A. 2009 Jun;149A(6):1108-15. doi: 10.1002/ajmg.a.32859. Am J Med Genet A. 2009. PMID: 19449422
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
Laquérriere A, Maluenda J, Camus A, Fontenas L, Dieterich K, Nolent F, Zhou J, Monnier N, Latour P, Gentil D, Héron D, Desguerres I, Landrieu P, Beneteau C, Delaporte B, Bellesme C, Baumann C, Capri Y, Goldenberg A, Lyonnet S, Bonneau D, Estournet B, Quijano-Roy S, Francannet C, Odent S, Saint-Frison MH, Sigaudy S, Figarella-Branger D, Gelot A, Mussini JM, Lacroix C, Drouin-Garraud V, Malinge MC, Attié-Bitach T, Bessieres B, Bonniere M, Encha-Razavi F, Beaufrère AM, Khung-Savatovsky S, Perez MJ, Vasiljevic A, Mercier S, Roume J, Trestard L, Saugier-Veber P, Cordier MP, Layet V, Legendre M, Vigouroux-Castera A, Lunardi J, Bayes M, Jouk PS, Rigonnot L, Granier M, Sternberg D, Warszawski J, Gut I, Gonzales M, Tawk M, Melki J. Laquérriere A, et al. Hum Mol Genet. 2014 May 1;23(9):2279-89. doi: 10.1093/hmg/ddt618. Epub 2013 Dec 6. Hum Mol Genet. 2014. PMID: 24319099
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
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
Laryngeal abnormalities are frequent in the 22q11 deletion syndrome.
Leopold C, De Barros A, Cellier C, Drouin-Garraud V, Dehesdin D, Marie JP. Leopold C, et al. Int J Pediatr Otorhinolaryngol. 2012 Jan;76(1):36-40. doi: 10.1016/j.ijporl.2011.09.025. Epub 2011 Oct 21. Int J Pediatr Otorhinolaryngol. 2012. PMID: 22019154
70 results