Beckmann JS - Search Results

1

A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p.

Antignac C, Arduy CH, Beckmann JS, Benessy F, Gros F, Medhioub M, Hildebrandt F, Dufier JL, Kleinknecht C, Broyer M, et al. Antignac C, et al. Among authors: beckmann js. Nat Genet. 1993 Apr;3(4):342-5. doi: 10.1038/ng0493-342. Nat Genet. 1993. PMID: 7981755

2

Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneity.

Medhioub M, Cherif D, Benessy F, Silbermann F, Gubler MC, Le Paslier D, Cohen D, Weissenbach J, Beckmann J, Antignac C. Medhioub M, et al. Genomics. 1994 Jul 15;22(2):296-301. doi: 10.1006/geno.1994.1387. Genomics. 1994. PMID: 7806215

3

Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis.

Fuchshuber A, Jean G, Gribouval O, Gubler MC, Broyer M, Beckmann JS, Niaudet P, Antignac C. Fuchshuber A, et al. Among authors: beckmann js. Hum Mol Genet. 1995 Nov;4(11):2155-8. doi: 10.1093/hmg/4.11.2155. Hum Mol Genet. 1995. PMID: 8589695

4

Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11.

Carrier L, Hengstenberg C, Beckmann JS, Guicheney P, Dufour C, Bercovici J, Dausse E, Berebbi-Bertrand I, Wisnewsky C, Pulvenis D, et al. Carrier L, et al. Among authors: beckmann js. Nat Genet. 1993 Jul;4(3):311-3. doi: 10.1038/ng0793-311. Nat Genet. 1993. PMID: 8358441

5

A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage.

Beckmann JS, Richard I, Hillaire D, Broux O, Antignac C, Bois E, Cann H, Cottingham RW Jr, Feingold N, Feingold J, et al. Beckmann JS, et al. C R Acad Sci III. 1991;312(4):141-8. C R Acad Sci III. 1991. PMID: 1901754

6

A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q.

Vaxillaire M, Boccio V, Philippi A, Vigouroux C, Terwilliger J, Passa P, Beckmann JS, Velho G, Lathrop GM, Froguel P. Vaxillaire M, et al. Among authors: beckmann js. Nat Genet. 1995 Apr;9(4):418-23. doi: 10.1038/ng0495-418. Nat Genet. 1995. PMID: 7795649

7

Genetic determinants of diastolic and pulse pressure map to different loci in Lyon hypertensive rats.

Dubay C, Vincent M, Samani NJ, Hilbert P, Kaiser MA, Beressi JP, Kotelevtsev Y, Beckmann JS, Soubrier F, Sassard J, et al. Dubay C, et al. Among authors: beckmann js. Nat Genet. 1993 Apr;3(4):354-7. doi: 10.1038/ng0493-354. Nat Genet. 1993. PMID: 7981757

8

Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy.

Bonne G, Carrier L, Bercovici J, Cruaud C, Richard P, Hainque B, Gautel M, Labeit S, James M, Beckmann J, Weissenbach J, Vosberg HP, Fiszman M, Komajda M, Schwartz K. Bonne G, et al. Nat Genet. 1995 Dec;11(4):438-40. doi: 10.1038/ng1295-438. Nat Genet. 1995. PMID: 7493026

9

Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.

Drenth JP, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JG, Beckmann JS, van der Meer JW, Delpech M. Drenth JP, et al. Among authors: beckmann js. Nat Genet. 1999 Jun;22(2):178-81. doi: 10.1038/9696. Nat Genet. 1999. PMID: 10369262

10

Chromosomal mapping of two genetic loci associated with blood-pressure regulation in hereditary hypertensive rats.

Hilbert P, Lindpaintner K, Beckmann JS, Serikawa T, Soubrier F, Dubay C, Cartwright P, De Gouyon B, Julier C, Takahasi S, et al. Hilbert P, et al. Among authors: beckmann js. Nature. 1991 Oct 10;353(6344):521-9. doi: 10.1038/353521a0. Nature. 1991. PMID: 1656270

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