Puech B - Search Results

1

Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy.

Marchant D, Gogat K, Boutboul S, Péquignot M, Sternberg C, Dureau P, Roche O, Uteza Y, Hache JC, Puech B, Puech V, Dumur V, Mouillon M, Munier FL, Schorderet DF, Marsac C, Dufier JL, Abitbol M. Marchant D, et al. Among authors: puech v, puech b. Hum Mutat. 2001 Mar;17(3):235. doi: 10.1002/humu.9. Hum Mutat. 2001. PMID: 11241846

2

Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy.

Lacassagne E, Dhuez A, Rigaudière F, Dansault A, Vêtu C, Bigot K, Vieira V, Puech B, Defoort-Dhellemmes S, Abitbol M. Lacassagne E, et al. Among authors: puech b. Mol Vis. 2011 Jan 29;17:309-22. Mol Vis. 2011. PMID: 21293734 Free PMC article.

3

X-shaped macular dystrophy with flavimaculatus flecks.

Puech B, Hache JC, Turut P, François P. Puech B, et al. Ophthalmologica. 1989;199(4):146-57. doi: 10.1159/000310033. Ophthalmologica. 1989. PMID: 2640291

4

Genetic analysis of new French X-linked juvenile retinoschisis kindreds using microsatellite markers closely linked to the RS locus: further narrowing of the RS candidate region.

Dumur V, Trivier E, Puech B, Peugnet F, Zanlonghi X, Hache JC, Hanauer A. Dumur V, et al. Among authors: puech b. Hum Genet. 1995 Jul;96(1):79-82. doi: 10.1007/BF00214190. Hum Genet. 1995. PMID: 7607659

5

[Diagnostic problems in dystrophy of the cones].

François P, Puech B, Hache JC, Amzallag T. François P, et al. Among authors: puech b. Bull Soc Ophtalmol Fr. 1989 Dec;89(12):1451-2. Bull Soc Ophtalmol Fr. 1989. PMID: 2632126 French. No abstract available.

6

Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

Perrault I, Hanein S, Gerard X, Delphin N, Fares-Taie L, Gerber S, Pelletier V, Mercé E, Dollfus H, Puech B, Defoort-Dhellemmes S, Petersen MD, Zafeiriou D, Munnich A, Kaplan J, Roche O, Rozet JM. Perrault I, et al. Among authors: puech b. Hum Mutat. 2010 Mar;31(3):E1241-50. doi: 10.1002/humu.21203. Hum Mutat. 2010. PMID: 20104588

7

[Fundus flavimaculatus of dominant heredity (apropos of 2 families). Nosological considerations on Stargardt's disease].

Turut P, Puech B, François P, Hache JC. Turut P, et al. Among authors: puech b. Bull Soc Ophtalmol Fr. 1975 Mar;75(3):309-15. Bull Soc Ophtalmol Fr. 1975. PMID: 1204180 French. No abstract available.

8

[Epidemiology and prevalence of hereditary retinal dystrophies in the Northern France].

Puech B, Kostrubiec B, Hache JC, François P. Puech B, et al. J Fr Ophtalmol. 1991;14(3):153-64. J Fr Ophtalmol. 1991. PMID: 1918822 Review. French.

9

[Stargardt's incipient flavimaculatus disease (apropos of 2 cases of pure fundus flavimaculatus)].

Puech B, Turut P, François P, Hache JC. Puech B, et al. Bull Soc Ophtalmol Fr. 1976 Jul-Aug;76(7-8):739-44. Bull Soc Ophtalmol Fr. 1976. PMID: 1029569 French. No abstract available.

10

[Use of computers in research on heredo-familial diseases].

François P, Puech B, Hache JC, Hemery B. François P, et al. Among authors: puech b. Bull Soc Ophtalmol Fr. 1985 Dec;85(12):1273-5. Bull Soc Ophtalmol Fr. 1985. PMID: 3843193 French. No abstract available.

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