Munnich A - Search Results

1

Exclusion of linkage between D3S47 (C17) and ADRPII gene in two large families of moderate autosomal dominant retinitis pigmentosa: evidence for genetic heterogeneity.

Kaplan J, Guasconi G, Dufier JL, Michel-Awad A, David A, Munnich A, Frezal J. Kaplan J, et al. Among authors: munnich a. Ann Genet. 1990;33(3):152-4. Ann Genet. 1990. PMID: 2288459

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

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.

4

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

5

[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.

6

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

7

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

8

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.

9

Usher syndrome type I is not linked to D1S81 (pTHH 33): evidence for genetic heterogeneity.

Kaplan J, Guasconi G, Bonneau D, Melki J, Briard ML, Munnich A, Dufier JL, Frézal J. Kaplan J, et al. Among authors: munnich a. Ann Genet. 1990;33(2):105-8. Ann Genet. 1990. PMID: 1978628

10

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.

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