Kaplan J - Search Results

1

Structure and physical mapping of DR1, a TATA-binding protein-associated phosphoprotein gene, to chromosome 1p22.1 and its exclusion in Stargardt disease (STGD).

Rozet JM, Gerber S, Perrault I, Camuzat A, Calvas P, Viegas-Pequignot E, Molina-Gomes D, Le Paslier D, Chumakov I, Munnich A, Kaplan J. Rozet JM, et al. Among authors: kaplan j. Genomics. 1996 Sep 15;36(3):554-6. doi: 10.1006/geno.1996.0508. Genomics. 1996. PMID: 8884286 No abstract available.

2

A gene for Usher syndrome type I (USH1A) maps to chromosome 14q.

Kaplan J, Gerber S, Bonneau D, Rozet JM, Delrieu O, Briard ML, Dollfus H, Ghazi I, Dufier JL, Frézal J, et al. Kaplan J, et al. Genomics. 1992 Dec;14(4):979-87. doi: 10.1016/s0888-7543(05)80120-x. Genomics. 1992. PMID: 1478676

3

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: kaplan j. Hum Genet. 1995 Apr;95(4):382-4. doi: 10.1007/BF00208959. Hum Genet. 1995. PMID: 7705831

4

Physical and genetic localization of the gamma subunit of the cyclic GMP phosphodiesterase on the long arm of chromosome 17 (17q25).

Dollfus H, Mattei MG, Rozet JM, Delrieu O, Munnich A, Kaplan J. Dollfus H, et al. Among authors: kaplan j. Genomics. 1993 Aug;17(2):526-8. doi: 10.1006/geno.1993.1364. Genomics. 1993. PMID: 8406511 No abstract available.

5

Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease.

Gerber S, Rozet JM, van de Pol TJ, Hoyng CB, Munnich A, Blankenagel A, Kaplan J, Cremers FP. Gerber S, et al. Among authors: kaplan j. Genomics. 1998 Feb 15;48(1):139-42. doi: 10.1006/geno.1997.5164. Genomics. 1998. PMID: 9503029

6

Structure and refinement of the physical mapping of the gamma- glutamylcysteine ligase regulatory subunit (GLCLR) gene to chromosome 1p22.1 within the critically deleted region of human malignant mesothelioma.

Rozet JM, Gerber S, Perrault I, Calvas P, Souied E, Châtelin S, Viegas-Péquignot, Molina-Gomez D, Munnich A, Kaplan J. Rozet JM, et al. Among authors: kaplan j. Cytogenet Cell Genet. 1998;82(1-2):91-4. doi: 10.1159/000015072. Cytogenet Cell Genet. 1998. PMID: 9841137

7

A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13.

Gerber S, Rozet JM, Bonneau D, Souied E, Camuzat A, Dufier JL, Amalric P, Weissenbach J, Munnich A, Kaplan J. Gerber S, et al. Among authors: kaplan j. Am J Hum Genet. 1995 Feb;56(2):396-9. Am J Hum Genet. 1995. PMID: 7847373 Free PMC article.

8

DsaI polymorphism at the human cone transducin alpha-subunit (GNAT2) detected by PCR.

Rozet JM, Gerber S, Bonneau D, Munnich A, Kaplan J. Rozet JM, et al. Among authors: kaplan j. Hum Mol Genet. 1994 Jun;3(6):1030. doi: 10.1093/hmg/3.6.1030-a. Hum Mol Genet. 1994. PMID: 7951223 No abstract available.

9

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: kaplan 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.

10

Dinucleotide repeat polymorphism at the human protein C inhibitor (PCI) locus.

Larget-Piet D, Rozet JM, Gerber S, Dollfus H, Munnich A, Kaplan J. Larget-Piet D, et al. Among authors: kaplan j. Hum Mol Genet. 1993 Dec;2(12):2201. doi: 10.1093/hmg/2.12.2201-a. Hum Mol Genet. 1993. PMID: 8111401 No abstract available.

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