Gerber S - Search Results

1

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

Perrault I, Saunier S, Hanein S, Filhol E, Bizet AA, Collins F, Salih MA, Gerber S, Delphin N, Bigot K, Orssaud C, Silva E, Baudouin V, Oud MM, Shannon N, Le Merrer M, Roche O, Pietrement C, Goumid J, Baumann C, Bole-Feysot C, Nitschke P, Zahrate M, Beales P, Arts HH, Munnich A, Kaplan J, Antignac C, Cormier-Daire V, Rozet JM. Perrault I, et al. Among authors: gerber s. Am J Hum Genet. 2012 May 4;90(5):864-70. doi: 10.1016/j.ajhg.2012.03.006. Epub 2012 Apr 12. Am J Hum Genet. 2012. PMID: 22503633 Free PMC article.

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. Among authors: gerber s. Genomics. 1992 Dec;14(4):979-87. doi: 10.1016/s0888-7543(05)80120-x. Genomics. 1992. PMID: 1478676

3

A gene for Leber's congenital amaurosis maps to chromosome 17p.

Camuzat A, Dollfus H, Rozet JM, Gerber S, Bonneau D, Bonnemaison M, Briard ML, Dufier JL, Ghazi I, Leowski C, et al. Camuzat A, et al. Among authors: gerber s. Hum Mol Genet. 1995 Aug;4(8):1447-52. doi: 10.1093/hmg/4.8.1447. Hum Mol Genet. 1995. PMID: 7581387

4

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

5

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

6

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: gerber s. 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.

7

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: gerber s. 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.

8

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. 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.

9

Genetic heterogeneity of Usher syndrome type 1 in French families.

Larget-Piet D, Gerber S, Bonneau D, Rozet JM, Marc S, Ghazi I, Dufier JL, David A, Bitoun P, Weissenbach J, et al. Larget-Piet D, et al. Among authors: gerber s. Genomics. 1994 May 1;21(1):138-43. doi: 10.1006/geno.1994.1235. Genomics. 1994. PMID: 8088781

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: gerber s. 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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