Bonneau D - Search Results

1

Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes.

Cormier-Daire V, Wolf C, Munnich A, Le Merrer M, Nivelon A, Bonneau D, Journel H, Fellmann F, Chevy F, Roux C. Cormier-Daire V, et al. Among authors: bonneau d. Eur J Pediatr. 1996 Aug;155(8):656-9. doi: 10.1007/BF01957147. Eur J Pediatr. 1996. PMID: 8839719

2

Coffin-Siris syndrome with normal plasma biotinidase activity.

Bonneau D, Berthier M, Oriot D, Munnich A. Bonneau D, et al. Eur J Pediatr. 1991 Jul;150(9):687. doi: 10.1007/BF02072639. Eur J Pediatr. 1991. PMID: 1915529 No abstract available.

3

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: bonneau d. Ann Genet. 1990;33(2):105-8. Ann Genet. 1990. PMID: 1978628

4

Clinical and genetic heterogeneity in retinitis pigmentosa.

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

5

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

6

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: bonneau d. Am J Hum Genet. 1995 Feb;56(2):396-9. Am J Hum Genet. 1995. PMID: 7847373 Free PMC article.

7

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: bonneau d. 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.

8

Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa.

Souied E, Gerber S, Rozet JM, Bonneau D, Dufier JL, Ghazi I, Philip N, Soubrane G, Coscas G, Munnich A, et al. Souied E, et al. Among authors: bonneau d. Hum Mol Genet. 1994 Aug;3(8):1433-4. doi: 10.1093/hmg/3.8.1433. Hum Mol Genet. 1994. PMID: 7987331 No abstract available.

9

X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.

Saugier-Veber P, Munnich A, Bonneau D, Rozet JM, Le Merrer M, Gil R, Boespflug-Tanguy O. Saugier-Veber P, et al. Among authors: bonneau d. Nat Genet. 1994 Mar;6(3):257-62. doi: 10.1038/ng0394-257. Nat Genet. 1994. PMID: 8012387

10

X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus.

Bonneau D, Rozet JM, Bulteau C, Berthier M, Mettey R, Gil R, Munnich A, Le Merrer M. Bonneau D, et al. J Med Genet. 1993 May;30(5):381-4. doi: 10.1136/jmg.30.5.381. J Med Genet. 1993. PMID: 8320699 Free PMC article.

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