Rozet JM - Search Results

1

Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort.

Perrault I, Hanein S, Gérard X, Mounguengue N, Bouyakoub R, Zarhrate M, Fourrage C, Jabot-Hanin F, Bocquet B, Meunier I, Zanlonghi X, Kaplan J, Rozet JM. Perrault I, et al. Among authors: rozet jm. Genes (Basel). 2021 Feb 18;12(2):287. doi: 10.3390/genes12020287. Genes (Basel). 2021. PMID: 33670832 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: rozet jm. Hum Genet. 1995 Apr;95(4):382-4. doi: 10.1007/BF00208959. Hum Genet. 1995. PMID: 7705831

3

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. 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.

4

Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13.

Camuzat A, Rozet JM, Dollfus H, Gerber S, Perrault I, Weissenbach J, Munnich A, Kaplan J. Camuzat A, et al. Among authors: rozet jm. Hum Genet. 1996 Jun;97(6):798-801. doi: 10.1007/BF02346192. Hum Genet. 1996. PMID: 8641699

5

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. Genomics. 1996 Sep 15;36(3):554-6. doi: 10.1006/geno.1996.0508. Genomics. 1996. PMID: 8884286 No abstract available.

6

Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.

Perrault I, Rozet JM, Calvas P, Gerber S, Camuzat A, Dollfus H, Châtelin S, Souied E, Ghazi I, Leowski C, Bonnemaison M, Le Paslier D, Frézal J, Dufier JL, Pittler S, Munnich A, Kaplan J. Perrault I, et al. Among authors: rozet jm. Nat Genet. 1996 Dec;14(4):461-4. doi: 10.1038/ng1296-461. Nat Genet. 1996. PMID: 8944027

7

Severe manifestations in carrier females in X linked retinitis pigmentosa.

Souied E, Segues B, Ghazi I, Rozet JM, Chatelin S, Gerber S, Perrault I, Michel-Awad A, Briard ML, Plessis G, Dufier JL, Munnich A, Kaplan J. Souied E, et al. Among authors: rozet jm. J Med Genet. 1997 Oct;34(10):793-7. doi: 10.1136/jmg.34.10.793. J Med Genet. 1997. PMID: 9350809 Free PMC article.

8

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: rozet jm. Genomics. 1998 Feb 15;48(1):139-42. doi: 10.1006/geno.1997.5164. Genomics. 1998. PMID: 9503029

9

Exclusion of five subunits of cGMP phosphodiesterase in Leber's congenital amaurosis.

Perrault I, Châtelin S, Nancy V, Rozet JM, Gerber S, Ghazi I, Souied E, Dufier JL, Munnich A, de Gunzburg J, Kaplan J. Perrault I, et al. Among authors: rozet jm. Hum Genet. 1998 Mar;102(3):322-6. doi: 10.1007/s004390050699. Hum Genet. 1998. PMID: 9544846

10

Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.

Rozet JM, Gerber S, Souied E, Perrault I, Châtelin S, Ghazi I, Leowski C, Dufier JL, Munnich A, Kaplan J. Rozet JM, et al. Eur J Hum Genet. 1998 May-Jun;6(3):291-5. doi: 10.1038/sj.ejhg.5200221. Eur J Hum Genet. 1998. PMID: 9781034

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