Silverstein S - Search Results

1

A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa.

Banin E, Mizrahi-Meissonnier L, Neis R, Silverstein S, Magyar I, Abeliovich D, Roepman R, Berger W, Rosenberg T, Sharon D. Banin E, et al. Among authors: silverstein s. Am J Med Genet A. 2007 Jun 1;143A(11):1150-8. doi: 10.1002/ajmg.a.31642. Am J Med Genet A. 2007. PMID: 17480003

2

An Ashkenazi Jewish founder mutation in CACNA1F causes retinal phenotype in both hemizygous males and heterozygous female carriers.

Kimchi A, Meiner V, Silverstein S, Macarov M, Mor-Shaked H, Blumenfeld A, Audo I, Zeitz C, Mechoulam H, Banin E, Sharon D, Yahalom C. Kimchi A, et al. Among authors: silverstein s. Ophthalmic Genet. 2019 Oct;40(5):443-448. doi: 10.1080/13816810.2019.1681008. Epub 2019 Oct 25. Ophthalmic Genet. 2019. PMID: 31651202

3

The 28-kb deletion spanning D15S63 is a polymorphic variant in the Ashkenazi Jewish population.

Silverstein S, Lerer I, Buiting K, Abeliovich D. Silverstein S, et al. Am J Hum Genet. 2001 Jan;68(1):261-3. doi: 10.1086/316943. Epub 2000 Nov 17. Am J Hum Genet. 2001. PMID: 11083946 Free PMC article.

4

A patient with Prader-Willi syndrome and a supernumerary marker chromosome r(15)(q11.1-13p11.1)pat and maternal heterodisomy.

Werner M, Ben-Neriah Z, Silverstein S, Lerer I, Dagan Y, Abeliovich D. Werner M, et al. Among authors: silverstein s. Am J Med Genet A. 2004 Aug 30;129A(2):176-9. doi: 10.1002/ajmg.a.20621. Am J Med Genet A. 2004. PMID: 15316980

5

Complex chromosomal rearrangement in a girl with psychomotor-retardation and a de novo inversion: inv(2)(p15;q24.2).

Granot-Hershkovitz E, Raas-Rothschild A, Frumkin A, Granot D, Silverstein S, Abeliovich D. Granot-Hershkovitz E, et al. Among authors: silverstein s. Am J Med Genet A. 2011 Aug;155A(8):1825-32. doi: 10.1002/ajmg.a.33952. Epub 2011 Jul 7. Am J Med Genet A. 2011. PMID: 21739571

6

Familial café au lait spots: a variant of neurofibromatosis type 1.

Abeliovich D, Gelman-Kohan Z, Silverstein S, Lerer I, Chemke J, Merin S, Zlotogora J. Abeliovich D, et al. Among authors: silverstein s. J Med Genet. 1995 Dec;32(12):985-6. doi: 10.1136/jmg.32.12.985. J Med Genet. 1995. PMID: 8825931 Free PMC article.

7

A (R80Q) mutation in 17 beta-hydroxysteroid dehydrogenase type 3 gene among Arabs of Israel is associated with pseudohermaphroditism in males and normal asymptomatic females.

Rösler A, Silverstein S, Abeliovich D. Rösler A, et al. Among authors: silverstein s. J Clin Endocrinol Metab. 1996 May;81(5):1827-31. doi: 10.1210/jcem.81.5.8626842. J Clin Endocrinol Metab. 1996. PMID: 8626842

8

Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: risk estimate.

Silverstein S, Lerer I, Sagi M, Frumkin A, Ben-Neriah Z, Abeliovich D. Silverstein S, et al. Prenat Diagn. 2002 Aug;22(8):649-51. doi: 10.1002/pd.370. Prenat Diagn. 2002. PMID: 12210570

9

Prevalence of myotonic dystrophy in Israeli Jewish communities: inter-community variation and founder premutations.

Segel R, Silverstein S, Lerer I, Kahana E, Meir R, Sagi M, Zilber N, Korczyn AD, Shapira Y, Argov Z, Abeliovich D. Segel R, et al. Among authors: silverstein s. Am J Med Genet A. 2003 Jun 15;119A(3):273-8. doi: 10.1002/ajmg.a.20177. Am J Med Genet A. 2003. PMID: 12784291

10

Increased severity over generations of Charcot-Marie-Tooth disease type 1A.

Steiner I, Gotkine M, Steiner-Birmanns B, Biran I, Silverstein S, Abeliovich D, Argov Z, Wirguin I. Steiner I, et al. Among authors: silverstein s. J Neurol. 2008 Jun;255(6):813-9. doi: 10.1007/s00415-008-0693-1. Epub 2008 Apr 30. J Neurol. 2008. PMID: 18438698

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