Munnich A - Search Results

1

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

2

[Phenotypic expression of 12 mutations of the phenylalanine hydroxylase gene].

Rey F, Abadie V, Lyonnet S, Berthelon M, Caillaud C, Melle D, Labrune P, Saudubray JM, Munnich A, Rey J. Rey F, et al. Among authors: munnich a. Arch Fr Pediatr. 1992 Oct;49(8):705-10. Arch Fr Pediatr. 1992. PMID: 1288453 French.

3

[Molecular genetics and prenatal diagnosis].

Lyonnet S, Rozet JM, Martin C, Munnich A. Lyonnet S, et al. Among authors: munnich a. Pediatrie. 1992;47(5):359-63. Pediatrie. 1992. PMID: 1359503 French.

4

X-linked hydrocephalus: clinical heterogeneity at a single gene locus.

Serville F, Lyonnet S, Pelet A, Reynaud M, Louail C, Munnich A, Le Merrer M. Serville F, et al. Among authors: munnich a. Eur J Pediatr. 1992 Jul;151(7):515-8. doi: 10.1007/BF01957757. Eur J Pediatr. 1992. PMID: 1396913

5

The gene for hereditary multiple exostoses does not map to the Langer-Giedion region (8q23-q24).

Le Merrer M, Ben Othmane K, Stanescu V, Lyonnet S, Van Maldergem L, Royer G, Munnich A, Maroteaux P. Le Merrer M, et al. Among authors: munnich a. J Med Genet. 1992 Oct;29(10):713-5. doi: 10.1136/jmg.29.10.713. J Med Genet. 1992. PMID: 1433231 Free PMC article.

6

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.

7

Two distinct mutations at a single BamHI site in phenylketonuria.

Melle D, Verelst P, Rey F, Berthelon M, François B, Munnich A, Lyonnet S. Melle D, et al. Among authors: munnich a. J Med Genet. 1991 Jan;28(1):38-40. doi: 10.1136/jmg.28.1.38. J Med Genet. 1991. PMID: 1671881 Free PMC article.

8

A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria.

Caillaud C, Lyonnet S, Rey F, Melle D, Frebourg T, Berthelon M, Vilarinho L, Vaz Osorio R, Rey J, Munnich A. Caillaud C, et al. Among authors: munnich a. J Biol Chem. 1991 May 25;266(15):9351-4. J Biol Chem. 1991. PMID: 1709636 Free article.

9

[Molecular genetics and prenatal diagnosis. Status and perspectives].

Munnich A, Lyonnet S, Kaplan J, Briard ML. Munnich A, et al. Ann Pediatr (Paris). 1991 Dec;38(10):651-4. Ann Pediatr (Paris). 1991. PMID: 1772203 Review. French. No abstract available.

10

An animal model for maternal phenylketonuria.

Roux C, Rey F, Lyonnet S, Nizard S, Mulliez N, Munnich A. Roux C, et al. Among authors: munnich a. J Med Genet. 1991 Oct;28(10):718-9. doi: 10.1136/jmg.28.10.718. J Med Genet. 1991. PMID: 1941970 Free PMC article. No abstract available.

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