Goldman B - Search Results

1

A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel.

Lahat H, Pras E, Olender T, Avidan N, Ben-Asher E, Man O, Levy-Nissenbaum E, Khoury A, Lorber A, Goldman B, Lancet D, Eldar M. Lahat H, et al. Among authors: goldman b. Am J Hum Genet. 2001 Dec;69(6):1378-84. doi: 10.1086/324565. Epub 2001 Oct 25. Am J Hum Genet. 2001. PMID: 11704930 Free PMC article.

2

Autosomal recessive catecholamine- or exercise-induced polymorphic ventricular tachycardia: clinical features and assignment of the disease gene to chromosome 1p13-21.

Lahat H, Eldar M, Levy-Nissenbaum E, Bahan T, Friedman E, Khoury A, Lorber A, Kastner DL, Goldman B, Pras E. Lahat H, et al. Among authors: goldman b. Circulation. 2001 Jun 12;103(23):2822-7. doi: 10.1161/01.cir.103.23.2822. Circulation. 2001. PMID: 11401939

3

Molecular analysis of cystinuria in Libyan Jews: exclusion of the SLC3A1 gene and mapping of a new locus on 19q.

Wartenfeld R, Golomb E, Katz G, Bale SJ, Goldman B, Pras M, Kastner DL, Pras E. Wartenfeld R, et al. Among authors: goldman b. Am J Hum Genet. 1997 Mar;60(3):617-24. Am J Hum Genet. 1997. PMID: 9042922 Free PMC article.

4

A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family.

Pras E, Frydman M, Levy-Nissenbaum E, Bakhan T, Raz J, Assia EI, Goldman B, Pras E. Pras E, et al. Among authors: goldman b. Invest Ophthalmol Vis Sci. 2000 Oct;41(11):3511-5. Invest Ophthalmol Vis Sci. 2000. PMID: 11006246

5

A gene causing autosomal recessive cataract maps to the short arm of chromosome 3.

Pras E, Pras E, Bakhan T, Levy-Nissenbaum E, Lahat H, Assia EI, Garzozi HJ, Kastner DL, Goldman B, Frydman M. Pras E, et al. Among authors: goldman b. Isr Med Assoc J. 2001 Aug;3(8):559-62. Isr Med Assoc J. 2001. PMID: 11519376

6

A novel mutation of presenilin 1 in familial Alzheimer's disease in Israel detected by denaturing gradient gel electrophoresis.

Reznik-Wolf H, Treves TA, Davidson M, Aharon-Peretz J, St George Hyslop PH, Chapman J, Korczyn AD, Goldman B, Friedman E. Reznik-Wolf H, et al. Among authors: goldman b. Hum Genet. 1996 Dec;98(6):700-2. doi: 10.1007/s004390050288. Hum Genet. 1996. PMID: 8931704

7

A missense mutation in ColA1 in Jewish Israeli patient with mild osteogenesis imperfecta, detected by DGGE.

Gat-Yablonski G, Ries L, Lev D, Goldman B, Friedman E. Gat-Yablonski G, et al. Among authors: goldman b. Hum Genet. 1997 Nov;101(1):22-5. doi: 10.1007/s004390050579. Hum Genet. 1997. PMID: 9385363

8

Preimplantation genetic haplotyping a new application for diagnosis of translocation carrier's embryos- preliminary observations of two robertsonian translocation carrier families.

Shamash J, Rienstein S, Wolf-Reznik H, Pras E, Dekel M, Litmanovitch T, Brengauz M, Goldman B, Yonath H, Dor J, Levron J, Aviram-Goldring A. Shamash J, et al. Among authors: goldman b. J Assist Reprod Genet. 2011 Jan;28(1):77-83. doi: 10.1007/s10815-010-9483-7. Epub 2010 Sep 25. J Assist Reprod Genet. 2011. PMID: 20872064 Free PMC article.

9

X-linked recessive primary retinal dysplasia is linked to the Norrie disease locus.

Ravia Y, Braier-Goldstein O, Bat-Miriam KM, Erlich S, Barkai G, Goldman B. Ravia Y, et al. Among authors: goldman b. Hum Mol Genet. 1993 Aug;2(8):1295-7. doi: 10.1093/hmg/2.8.1295. Hum Mol Genet. 1993. PMID: 8401512

10

No founder effect detected in Jewish Ashkenazi patients with fragile-X syndrome.

Pesso R, Barkai G, Ravia Y, Gak E, Frydman M, Goldman B, Friedman E. Pesso R, et al. Among authors: goldman b. Hum Genet. 1997 Dec;101(2):186-9. doi: 10.1007/s004390050611. Hum Genet. 1997. PMID: 9402966

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