Munnich A - Search Results

1

Antenatal manifestations of Smith-Lemli-Opitz (RSH) syndrome: a retrospective survey of 30 cases.

Goldenberg A, Wolf C, Chevy F, Benachi A, Dumez Y, Munnich A, Cormier-Daire V. Goldenberg A, et al. Among authors: munnich a. Am J Med Genet A. 2004 Feb 1;124A(4):423-6. doi: 10.1002/ajmg.a.20448. Am J Med Genet A. 2004. PMID: 14735596 Review.

2

Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome?

Lyonnet S, Schwartz G, Gatin G, de Prost Y, Munnich A, Le Merrer M. Lyonnet S, et al. Among authors: munnich a. J Med Genet. 1992 Jan;29(1):68-9. doi: 10.1136/jmg.29.1.68. J Med Genet. 1992. PMID: 1552551 Free PMC article.

3

Filippi syndrome: a new case with skeletal abnormalities.

Héron D, Billette de Villemeur T, Munnich A, Lyonnet S. Héron D, et al. Among authors: munnich a. J Med Genet. 1995 Aug;32(8):659-61. doi: 10.1136/jmg.32.8.659. J Med Genet. 1995. PMID: 7473664 Free PMC article. Review.

4

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. Among authors: munnich a. Am J Med Genet. 1995 May 22;57(1):66-8. doi: 10.1002/ajmg.1320570115. Am J Med Genet. 1995. PMID: 7645602

5

Prenatal diagnosis of the urea cycle diseases: a survey of the European cases.

Kamoun P, Fensom AH, Shin YS, Bakker E, Colombo JP, Munnich A, Bird S, Canini S, Huijmans JG, Chadefaux-Vekemans B, et al. Kamoun P, et al. Among authors: munnich a. Am J Med Genet. 1995 Jan 16;55(2):247-50. doi: 10.1002/ajmg.1320550220. Am J Med Genet. 1995. PMID: 7717428 Review.

6

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. Among authors: munnich a. Am J Med Genet. 1995 Mar 13;56(1):39-41. doi: 10.1002/ajmg.1320560111. Am J Med Genet. 1995. PMID: 7747784

7

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. Among authors: munnich a. J Pediatr. 1994 Jan;124(1):63-70. doi: 10.1016/s0022-3476(94)70255-1. J Pediatr. 1994. PMID: 8283377

8

Sternal cleft: case report and review of a series of nine patients.

Héron D, Lyonnet S, Iserin L, Munnich A, Padovani JP. Héron D, et al. Among authors: munnich a. Am J Med Genet. 1995 Nov 6;59(2):154-6. doi: 10.1002/ajmg.1320590207. Am J Med Genet. 1995. PMID: 8588577

9

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. Among authors: munnich a. Eur J Pediatr. 1996 Aug;155(8):656-9. doi: 10.1007/BF01957147. Eur J Pediatr. 1996. PMID: 8839719

10

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. Among authors: munnich a. 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

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