Beckmann JS - Search Results

1

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.

Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, Olender T, Barash M, Shemesh M, Sadeh M, Grabov-Nardini G, Shmilevich I, Friedmann A, Karpati G, Bradley WG, Baumbach L, Lancet D, Asher EB, Beckmann JS, Argov Z, Mitrani-Rosenbaum S. Eisenberg I, et al. Among authors: beckmann js. Nat Genet. 2001 Sep;29(1):83-7. doi: 10.1038/ng718. Nat Genet. 2001. PMID: 11528398

2

Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M, Richard I, Marchand S, Bourg N, Argov Z, Sadeh M, Mahjneh I, Marconi G, Passos-Bueno MR, Moreira Ede S, Zatz M, Beckmann JS, Bushby K. Bashir R, et al. Among authors: beckmann js. Nat Genet. 1998 Sep;20(1):37-42. doi: 10.1038/1689. Nat Genet. 1998. PMID: 9731527

3

Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features.

Argov Z, Sadeh M, Mazor K, Soffer D, Kahana E, Eisenberg I, Mitrani-Rosenbaum S, Richard I, Beckmann J, Keers S, Bashir R, Bushby K, Rosenmann H. Argov Z, et al. Brain. 2000 Jun;123 ( Pt 6):1229-37. doi: 10.1093/brain/123.6.1229. Brain. 2000. PMID: 10825360

4

Genomic profiling of interpopulation diversity guides prioritization of candidate-genes for autoimmunity.

Grossman I, Avidan N, Singer C, Paperna T, Lancet D, Beckmann JS, Miller A. Grossman I, et al. Among authors: beckmann js. Genes Immun. 2004 Sep;5(6):493-504. doi: 10.1038/sj.gene.6364117. Genes Immun. 2004. PMID: 15269719

5

ATM haplotypes and breast cancer risk in Jewish high-risk women.

Koren M, Kimmel G, Ben-Asher E, Gal I, Papa MZ, Beckmann JS, Lancet D, Shamir R, Friedman E. Koren M, et al. Among authors: beckmann js. Br J Cancer. 2006 May 22;94(10):1537-43. doi: 10.1038/sj.bjc.6603062. Br J Cancer. 2006. PMID: 16622469 Free PMC article.

6

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

7

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

8

The trace amine receptor 4 gene is not associated with schizophrenia in a sample linked to chromosome 6q23.

Amann D, Avidan N, Kanyas K, Kohn Y, Hamdan A, Ben-Asher E, Macciardi F, Beckmann JS, Lancet D, Lerer B. Amann D, et al. Among authors: beckmann js. Mol Psychiatry. 2006 Feb;11(2):119-21. doi: 10.1038/sj.mp.4001752. Mol Psychiatry. 2006. PMID: 16189505 Clinical Trial. No abstract available.

9

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

10

Dysferlin is a plasma membrane protein and is expressed early in human development.

Anderson LV, Davison K, Moss JA, Young C, Cullen MJ, Walsh J, Johnson MA, Bashir R, Britton S, Keers S, Argov Z, Mahjneh I, Fougerousse F, Beckmann JS, Bushby KM. Anderson LV, et al. Among authors: beckmann js. Hum Mol Genet. 1999 May;8(5):855-61. doi: 10.1093/hmg/8.5.855. Hum Mol Genet. 1999. PMID: 10196375

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