Frézal J - 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: frezal j. Am J Hum Genet. 1991 Apr;48(4):764-8. Am J Hum Genet. 1991. PMID: 2014799 Free PMC article.

2

Exclusion of the cone-specific alpha-subunit of the transducin gene in Stargardt's disease.

Gerber S, Rozet JM, Bonneau D, Souied E, Weissenbach J, Frezal J, Munnich A, Kaplan J. Gerber S, et al. Among authors: frezal j. Hum Genet. 1995 Apr;95(4):382-4. doi: 10.1007/BF00208959. Hum Genet. 1995. PMID: 7705831

3

The role of the SMN gene in proximal spinal muscular atrophy.

Lefebvre S, Bürglen L, Frézal J, Munnich A, Melki J. Lefebvre S, et al. Among authors: frezal j. Hum Mol Genet. 1998;7(10):1531-6. doi: 10.1093/hmg/7.10.1531. Hum Mol Genet. 1998. PMID: 9735373 Review.

4

Clinical and genetic heterogeneity in retinitis pigmentosa.

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

5

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: frezal j. Cytogenet Cell Genet. 1991;57(2-3):112-3. doi: 10.1159/000133125. Cytogenet Cell Genet. 1991. PMID: 1914518

6

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: frezal j. Lancet. 1990 Aug 4;336(8710):271-3. doi: 10.1016/0140-6736(90)91803-i. Lancet. 1990. PMID: 1973971

7

Localization of the acetylcholine receptor gamma subunit gene to human chromosome 2q32----qter.

Cohen-Haguenauer O, Barton PJ, Buonanno A, Cong NV, Masset M, de Tand MF, Merlie J, Frézal J. Cohen-Haguenauer O, et al. Among authors: frezal j. Cytogenet Cell Genet. 1989;52(3-4):124-7. doi: 10.1159/000132860. Cytogenet Cell Genet. 1989. PMID: 2630182

8

Chromosomal assignment of two myosin alkali light-chain genes encoding the ventricular/slow skeletal muscle isoform and the atrial/fetal muscle isoform (MYL3, MYL4).

Cohen-Haguenauer O, Barton PJ, Van Cong N, Cohen A, Masset M, Buckingham M, Frézal J. Cohen-Haguenauer O, et al. Among authors: frezal j. Hum Genet. 1989 Feb;81(3):278-82. doi: 10.1007/BF00279004. Hum Genet. 1989. PMID: 2784124

9

Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome.

Szpiro-Tapia S, Sefiani A, Guilloud-Bataille M, Heuertz S, Le Marec B, Frézal J, Maroteaux P, Hors-Cayla MC. Szpiro-Tapia S, et al. Among authors: frezal j. Hum Genet. 1988 Dec;81(1):61-3. doi: 10.1007/BF00283731. Hum Genet. 1988. PMID: 3198127

10

Stargardt's disease is not allelic to the genes for neuronal ceroid lipofuscinoses.

Gerber S, Odent S, Postel-Vinay A, Janin N, Dufier JL, Munnich A, Frezal J, Kaplan J. Gerber S, et al. Among authors: frezal j. J Med Genet. 1994 Mar;31(3):222-3. doi: 10.1136/jmg.31.3.222. J Med Genet. 1994. PMID: 8014971 Free PMC article.

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