Shomrat R - Search Results

1

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.

2

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.

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

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

5

Notable intrafamilial phenotypic variability in a kindred with familial adenomatous polyposis and an APC mutation in exon 9.

Rozen P, Samuel Z, Shomrat R, Legum C. Rozen P, et al. Among authors: shomrat r. Gut. 1999 Dec;45(6):829-33. doi: 10.1136/gut.45.6.829. Gut. 1999. PMID: 10562580 Free PMC article.

6

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

7

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

8

Screening for familial dysautonomia in Israel: evidence for higher carrier rate among Polish Ashkenazi Jews.

Lehavi O, Aizenstein O, Bercovich D, Pavzner D, Shomrat R, Orr-Urtreger A, Yaron Y. Lehavi O, et al. Among authors: shomrat r. Genet Test. 2003 Summer;7(2):139-42. doi: 10.1089/109065703322146830. Genet Test. 2003. PMID: 12885336

9

Large-scale population screening for spinal muscular atrophy: clinical implications.

Ben-Shachar S, Orr-Urtreger A, Bardugo E, Shomrat R, Yaron Y. Ben-Shachar S, et al. Among authors: shomrat r. Genet Med. 2011 Feb;13(2):110-4. doi: 10.1097/GIM.0b013e3182017c05. Genet Med. 2011. PMID: 21233719 Free article.

10

Ethnic effect on FMR1 carrier rate and AGG repeat interruptions among Ashkenazi women.

Weiss K, Orr-Urtreger A, Kaplan Ber I, Naiman T, Shomrat R, Bardugu E, Yaron Y, Ben-Shachar S. Weiss K, et al. Among authors: shomrat r. Genet Med. 2014 Dec;16(12):940-4. doi: 10.1038/gim.2014.64. Epub 2014 May 29. Genet Med. 2014. PMID: 24875300 Free article.

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