Munnich A - Search Results

1

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.

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

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.

5

Contribution to carrier detection and genetic counselling in X linked retinoschisis.

Kaplan J, Pelet A, Hentati H, Jeanpierre M, Briard ML, Journel H, Munnich A, Dufier JL. Kaplan J, et al. Among authors: munnich a. J Med Genet. 1991 Jun;28(6):383-8. doi: 10.1136/jmg.28.6.383. J Med Genet. 1991. PMID: 1678432 Free PMC article.

6

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

7

Clinical and genetic heterogeneity of Charcot-Marie-Tooth disease.

Hentati A, Lamy C, Melki J, Zuber M, Munnich A, de Recondo J. Hentati A, et al. Among authors: munnich a. Genomics. 1992 Jan;12(1):155-7. doi: 10.1016/0888-7543(92)90419-s. Genomics. 1992. PMID: 1733853

8

In situ hybridization of two markers closely flanking the spinal muscular atrophy gene to 5q12----q13.3.

Mattei MG, Melki J, Bachelot MF, Abdelhak S, Burlet P, Frézal J, Munnich A. Mattei MG, et al. Among authors: munnich a. Cytogenet Cell Genet. 1991;57(2-3):112-3. doi: 10.1159/000133125. Cytogenet Cell Genet. 1991. PMID: 1914518

9

Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators.

Melki J, Sheth P, Abdelhak S, Burlet P, Bachelot MF, Lathrop MG, Frezal J, Munnich A. Melki J, et al. Among authors: munnich a. Lancet. 1990 Aug 4;336(8710):271-3. doi: 10.1016/0140-6736(90)91803-i. Lancet. 1990. PMID: 1973971

10

A PstI polymorphism at the D5S39 locus.

Abdelhak S, Melki J, Bachelot MF, Burlet P, Sheth P, Frézal J, Munnich A. Abdelhak S, et al. Among authors: munnich a. Nucleic Acids Res. 1990 Sep 25;18(18):5580. doi: 10.1093/nar/18.18.5580-a. Nucleic Acids Res. 1990. PMID: 1977124 Free PMC article.

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