Goldman B - Search Results

1

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

2

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

3

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

4

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.

5

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.

6

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

7

Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy.

Ries L, Frydman M, Barkai G, Goldman B, Friedman E. Ries L, et al. Among authors: goldman b. Prenat Diagn. 2000 Nov;20(11):876-80. doi: 10.1002/1097-0223(200011)20:11<876::aid-pd936>3.0.co;2-x. Prenat Diagn. 2000. PMID: 11113887

8

Germline mutations in the PTEN gene in Israeli patients with Bannayan-Riley-Ruvalcaba syndrome and women with familial breast cancer.

Figer A, Kaplan A, Frydman M, Lev D, Paswell J, Papa MZ, Goldman B, Friedman E. Figer A, et al. Among authors: goldman b. Clin Genet. 2002 Oct;62(4):298-302. doi: 10.1034/j.1399-0004.2002.620407.x. Clin Genet. 2002. PMID: 12372056

9

Noonan syndrome: a cryptic condition in early gestation.

Achiron R, Heggesh J, Grisaru D, Goldman B, Lipitz S, Yagel S, Frydman M. Achiron R, et al. Among authors: goldman b. Am J Med Genet. 2000 May 29;92(3):159-65. doi: 10.1002/(sici)1096-8628(20000529)92:3<159::aid-ajmg1>3.0.co;2-2. Am J Med Genet. 2000. PMID: 10817648

10

Lower frequency of Gaucher disease carriers among Tay-Sachs disease carriers.

Peleg L, Frisch A, Goldman B, Karpaty M, Narinsky R, Bronstein S, Frydman M. Peleg L, et al. Among authors: goldman b. Eur J Hum Genet. 1998 Mar-Apr;6(2):185-6. doi: 10.1038/sj.ejhg.5200176. Eur J Hum Genet. 1998. PMID: 9781065

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