Munnich A - Search Results

1

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

Karmous-Benailly H, Martinovic J, Gubler MC, Sirot Y, Clech L, Ozilou C, Auge J, Brahimi N, Etchevers H, Detrait E, Esculpavit C, Audollent S, Goudefroye G, Gonzales M, Tantau J, Loget P, Joubert M, Gaillard D, Jeanne-Pasquier C, Delezoide AL, Peter MO, Plessis G, Simon-Bouy B, Dollfus H, Le Merrer M, Munnich A, Encha-Razavi F, Vekemans M, Attié-Bitach T. Karmous-Benailly H, et al. Among authors: munnich a. Am J Hum Genet. 2005 Mar;76(3):493-504. doi: 10.1086/428679. Epub 2005 Jan 21. Am J Hum Genet. 2005. PMID: 15666242 Free PMC article.

2

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.

3

Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia.

Rötig A, Bessis JL, Romero N, Cormier V, Saudubray JM, Narcy P, Lenoir G, Rustin P, Munnich A. Rötig A, et al. Among authors: munnich a. Am J Hum Genet. 1992 Feb;50(2):364-70. Am J Hum Genet. 1992. PMID: 1531167 Free PMC article.

4

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.

5

Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene.

Hentzen D, Pelet A, Feldman D, Rabier D, Berthelot J, Munnich A. Hentzen D, et al. Among authors: munnich a. Hum Genet. 1991 Dec;88(2):153-6. doi: 10.1007/BF00206063. Hum Genet. 1991. PMID: 1721894

6

Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy.

Cormier V, Rotig A, Tardieu M, Colonna M, Saudubray JM, Munnich A. Cormier V, et al. Among authors: munnich a. Am J Hum Genet. 1991 Apr;48(4):643-8. Am J Hum Genet. 1991. PMID: 2014791 Free PMC article.

7

Linkage analysis in spinal muscular atrophy, by six closely flanking markers on chromosome 5.

Sheth P, Abdelhak S, Bachelot MF, Burlet P, Masset M, Hillaire D, Clerget-Darpoux F, Frézal J, Lathrop GM, Munnich A, et al. Sheth P, et al. Among authors: munnich a. Am J Hum Genet. 1991 Apr;48(4):764-8. Am J Hum Genet. 1991. PMID: 2014799 Free PMC article.

8

Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuria.

Labrune P, Melle D, Rey F, Berthelon M, Caillaud C, Rey J, Munnich A, Lyonnet S. Labrune P, et al. Among authors: munnich a. Am J Hum Genet. 1991 Jun;48(6):1115-20. Am J Hum Genet. 1991. PMID: 2035532 Free PMC article.

9

Clinical and genetic heterogeneity in retinitis pigmentosa.

Kaplan J, Bonneau D, Frézal J, Munnich A, Dufier JL. Kaplan J, et al. Among authors: munnich a. Hum Genet. 1990 Oct;85(6):635-42. doi: 10.1007/BF00193589. Hum Genet. 1990. PMID: 2227956

10

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.

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