Cormier-Daire V - Search Results

1

Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type.

Faivre L, Le Merrer M, Megarbane A, Gilbert B, Mortier G, Cusin V, Munnich A, Maroteaux P, Cormier-Daire V. Faivre L, et al. J Med Genet. 2000 Jan;37(1):52-4. doi: 10.1136/jmg.37.1.52. J Med Genet. 2000. PMID: 10633136 Free PMC article.

2

Acral dysostosis dyserythropoiesis syndrome.

Le Merrer M, Girot R, Parent P, Cormier-Daire V, Maroteaux P. Le Merrer M, et al. Eur J Pediatr. 1995 May;154(5):384-8. doi: 10.1007/BF02072110. Eur J Pediatr. 1995. PMID: 7641772

3

Craniosynostosis and kidney malformation in a case of Hennekam syndrome.

Cormier-Daire V, Lyonnet S, Lehnert A, Martin D, Salomon R, Patey N, Broyer M, Ricour C, Munnich A. Cormier-Daire V, et al. Am J Med Genet. 1995 May 22;57(1):66-8. doi: 10.1002/ajmg.1320570115. Am J Med Genet. 1995. PMID: 7645602

4

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

5

Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy.

Cormier-Daire V, Bonnefont JP, Rustin P, Maurage C, Ogler H, Schmitz J, Ricour C, Saudubray JM, Munnich A, Rötig A. Cormier-Daire V, et al. J Pediatr. 1994 Jan;124(1):63-70. doi: 10.1016/s0022-3476(94)70255-1. J Pediatr. 1994. PMID: 8283377

6

Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes.

Cormier-Daire V, Wolf C, Munnich A, Le Merrer M, Nivelon A, Bonneau D, Journel H, Fellmann F, Chevy F, Roux C. Cormier-Daire V, et al. Eur J Pediatr. 1996 Aug;155(8):656-9. doi: 10.1007/BF01957147. Eur J Pediatr. 1996. PMID: 8839719

7

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

8

Microsatellite DNA markers detects 95% of chromosome 22q11 deletions.

Bonnet D, Cormier-Daire V, Kachaner J, Szezepanski I, Souillard P, Sidi D, Munnich A, Lyonnet S. Bonnet D, et al. Am J Med Genet. 1997 Jan 20;68(2):182-4. Am J Med Genet. 1997. PMID: 9028455

9

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

10

Increased paternal age in CHARGE association.

Tellier AL, Lyonnet S, Cormier-Daire V, de Lonlay P, Abadie V, Baumann C, Bonneau D, Labrune P, Lacombe D, Le Merrer M, Nivelon A, Philip N, Briard ML, Munnich A. Tellier AL, et al. Clin Genet. 1996 Dec;50(6):548-50. doi: 10.1111/j.1399-0004.1996.tb02736.x. Clin Genet. 1996. PMID: 9147897

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