Munnich A - Search Results

1

Facial anomalies in D-2-hydroxyglutaric aciduria.

Amiel J, de Lonlay P, Francannet C, Picard A, Bruel H, Rabier D, Le Merrer M, Verhoeven N, Jakobs C, Lyonnet S, Munnich A. Amiel J, et al. Among authors: munnich a. Am J Med Genet. 1999 Sep 10;86(2):124-9. Am J Med Genet. 1999. PMID: 10449646 Review.

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

Site specific screening for point mutations in ornithine transcarbamylase deficiency.

Feldmann D, Rozet JM, Pelet A, Hentzen D, Briand P, Hubert P, Largilliere C, Rabier D, Farriaux JP, Munnich A. Feldmann D, et al. Among authors: munnich a. J Med Genet. 1992 Jul;29(7):471-5. J Med Genet. 1992. PMID: 1353535 Free PMC article.

4

[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.

5

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

6

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.

7

Approach to the patient with a fatty acid oxidation disorder.

Saudubray JM, Mitchell G, Bonnefont JP, Schwartz G, Nuttin C, Munnich A, Brivet M, Vassault A, Demaugre F, Rabier D, et al. Saudubray JM, et al. Among authors: munnich a. Prog Clin Biol Res. 1992;375:271-88. Prog Clin Biol Res. 1992. PMID: 1438373 Review. No abstract available.

8

3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects.

Gibson KM, Bennett MJ, Mize CE, Jakobs C, Rotig A, Munnich A, Lichter-Konecki U, Trefz FK. Gibson KM, et al. Among authors: munnich a. J Pediatr. 1992 Dec;121(6):940-2. doi: 10.1016/s0022-3476(05)80348-8. J Pediatr. 1992. PMID: 1447663

9

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.

10

Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis.

Bonnefont JP, Chretien D, Rustin P, Robinson B, Vassault A, Aupetit J, Charpentier C, Rabier D, Saudubray JM, Munnich A. Bonnefont JP, et al. Among authors: munnich a. J Pediatr. 1992 Aug;121(2):255-8. doi: 10.1016/s0022-3476(05)81199-0. J Pediatr. 1992. PMID: 1640293

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