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494 results

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Page 1
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.
Molin AM, Andrieux J, Koolen DA, Malan V, Carella M, Colleaux L, Cormier-Daire V, David A, de Leeuw N, Delobel B, Duban-Bedu B, Fischetto R, Flinter F, Kjaergaard S, Kok F, Krepischi AC, Le Caignec C, Ogilvie CM, Maia S, Mathieu-Dramard M, Munnich A, Palumbo O, Papadia F, Pfundt R, Reardon W, Receveur A, Rio M, Ronsbro Darling L, Rosenberg C, Sá J, Vallee L, Vincent-Delorme C, Zelante L, Bondeson ML, Annerén G. Molin AM, et al. J Med Genet. 2012 Feb;49(2):104-9. doi: 10.1136/jmedgenet-2011-100534. Epub 2011 Dec 17. J Med Genet. 2012. PMID: 22180640 Free PMC article.
Upper limb malformations in DiGeorge syndrome.
Cormier-Daire V, Iserin L, Théophile D, Sidi D, Vervel C, Padovani JP, Vekemans M, Munnich A, Lyonnet S. Cormier-Daire V, et al. Am J Med Genet. 1995 Mar 13;56(1):39-41. doi: 10.1002/ajmg.1320560111. Am J Med Genet. 1995. PMID: 7747784
Craniofacial anomalies and malformations in respiratory chain deficiency.
Cormier-Daire V, Rustin P, Rötig A, Chrétien D, Le Merrer M, Belli D, Le Goff A, Hubert P, Ricour C, Munnich A. Cormier-Daire V, et al. Am J Med Genet. 1996 Dec 30;66(4):457-63. doi: 10.1002/(SICI)1096-8628(19961230)66:4<457::AID-AJMG15>3.0.CO;2-T. Am J Med Genet. 1996. PMID: 8989468
Prezygotic origin of the isochromosome 12p in Pallister-Killian syndrome.
Cormier-Daire V, Le Merrer M, Gigarel N, Morichon N, Prieur M, Lyonnet S, Vekemans M, Munnich A. Cormier-Daire V, et al. Am J Med Genet. 1997 Mar 17;69(2):166-8. doi: 10.1002/(sici)1096-8628(19970317)69:2<166::aid-ajmg9>3.0.co;2-n. Am J Med Genet. 1997. PMID: 9056554
Features of DiGeorge syndrome and CHARGE association in five patients.
de Lonlay-Debeney P, Cormier-Daire V, Amiel J, Abadie V, Odent S, Paupe A, Couderc S, Tellier AL, Bonnet D, Prieur M, Vekemans M, Munnich A, Lyonnet S. de Lonlay-Debeney P, et al. J Med Genet. 1997 Dec;34(12):986-9. doi: 10.1136/jmg.34.12.986. J Med Genet. 1997. PMID: 9429139 Free PMC article.
Genetic heterogeneity of Meckel syndrome.
Roume J, Ma HW, Le Merrer M, Cormier-Daire V, Girlich D, Genin E, Munnich A. Roume J, et al. J Med Genet. 1997 Dec;34(12):1003-6. doi: 10.1136/jmg.34.12.1003. J Med Genet. 1997. PMID: 9429143 Free PMC article.
Ebstein anomaly associated with rearrangements of chromosomal region 11q.
de Lonlay-Debeney P, de Blois MC, Bonnet D, Amiel J, Abadie V, Picq M, Lyonnet S, Sidi D, Munnich A, Vekemans M, Cormier-Daire V. de Lonlay-Debeney P, et al. Am J Med Genet. 1998 Nov 2;80(2):157-9. doi: 10.1002/(sici)1096-8628(19981102)80:2<157::aid-ajmg12>3.0.co;2-u. Am J Med Genet. 1998. PMID: 9805133
494 results