Shomrat R - Search Results

1

Novel mutations in the emerin gene in Israeli families.

Nevo Y, Ahituv S, Yaron Y, Kedmi M, Shomrat R, Legum C, Orr-Urtreger A. Nevo Y, et al. Among authors: shomrat r. Hum Mutat. 2001 Jun;17(6):522. doi: 10.1002/humu.1139. Hum Mutat. 2001. PMID: 11385714

2

Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations.

Gavert N, Yaron Y, Naiman T, Bercovich D, Rozen P, Shomrat R, Legum C, Orr-Urtreger A. Gavert N, et al. Among authors: shomrat r. Hum Mutat. 2002 Jun;19(6):664. doi: 10.1002/humu.9037. Hum Mutat. 2002. PMID: 12007223 Review.

3

MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome.

Yaron Y, Ben Zeev B, Shomrat R, Bercovich D, Naiman T, Orr-Urtreger A. Yaron Y, et al. Among authors: shomrat r. Hum Mutat. 2002 Oct;20(4):323-4. doi: 10.1002/humu.9069. Hum Mutat. 2002. PMID: 12325033

4

A molecular survey of Israeli Duchenne and Becker muscular dystrophy patients.

Legum C, Shomrat R, Glassner M, Shiloh Y. Legum C, et al. Among authors: shomrat r. Biomed Pharmacother. 1994;48(8-9):359-64. doi: 10.1016/0753-3322(94)90052-3. Biomed Pharmacother. 1994. PMID: 7858172

5

Relatively low proportion of dystrophin gene deletions in Israeli Duchenne and Becker muscular dystrophy patients.

Shomrat R, Gluck E, Legum C, Shiloh Y. Shomrat R, et al. Am J Med Genet. 1994 Feb 15;49(4):369-73. doi: 10.1002/ajmg.1320490403. Am J Med Genet. 1994. PMID: 8160727

6

Prevalence of the I1307K APC gene variant in Israeli Jews of differing ethnic origin and risk for colorectal cancer.

Rozen P, Shomrat R, Strul H, Naiman T, Karminsky N, Legum C, Orr-Urtreger A. Rozen P, et al. Among authors: shomrat r. Gastroenterology. 1999 Jan;116(1):54-7. doi: 10.1016/s0016-5085(99)70228-3. Gastroenterology. 1999. PMID: 9869602

7

High frequency of a common Bloom syndrome Ashkenazi mutation among Jews of Polish origin.

Shahrabani-Gargir L, Shomrat R, Yaron Y, Orr-Urtreger A, Groden J, Legum C. Shahrabani-Gargir L, et al. Among authors: shomrat r. Genet Test. 1998;2(4):293-6. doi: 10.1089/gte.1998.2.293. Genet Test. 1998. PMID: 10464606

8

Fetal muscle biopsy as a diagnostic tool in Duchenne muscular dystrophy.

Nevo Y, Shomrat R, Yaron Y, Orr-Urtreger A, Harel S, Legum C. Nevo Y, et al. Among authors: shomrat r. Prenat Diagn. 1999 Oct;19(10):921-6. doi: 10.1002/(sici)1097-0223(199910)19:10<921::aid-pd660>3.0.co;2-a. Prenat Diagn. 1999. PMID: 10521816

9

Rett syndrome: clinical manifestations in males with MECP2 mutations.

Zeev BB, Yaron Y, Schanen NC, Wolf H, Brandt N, Ginot N, Shomrat R, Orr-Urtreger A. Zeev BB, et al. Among authors: shomrat r. J Child Neurol. 2002 Jan;17(1):20-4. doi: 10.1177/088307380201700105. J Child Neurol. 2002. PMID: 11913564

10

Clinical and screening implications of the I1307K adenomatous polyposis coli gene variant in Israeli Ashkenazi Jews with familial colorectal neoplasia. Evidence for a founder effect.

Rozen P, Naiman T, Strul H, Taussky P, Karminsky N, Shomrat R, Samuel Z, Yaron Y, Orr-Urtreger A. Rozen P, et al. Among authors: shomrat r. Cancer. 2002 May 15;94(10):2561-8. doi: 10.1002/cncr.10529. Cancer. 2002. PMID: 12173321 Free article.

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