Ruth Shomrat§: search on Z-Library

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1

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

Nancy Gavert, Yuval Yaron, Tova Naiman, Dani Bercovich, Paul Rozen, Ruth Shomrat, Cyril Legum, Avi Orr-Urtreger

Journal:

Year:

2002

Language:

english

File:

PDF, 163 KB

english, 2002

2

Detection of Duchenne muscular dystrophy gene products in amniotic fluid and chorionic villus sampling cells

Hagit Prigojin, Marina Brusel, Ora Fuchs, Ruth Shomrat, Cyril Legum, Uri Nudel, David Yaffe

Journal:

Year:

1993

Language:

english

File:

PDF, 1.67 MB

english, 1993

3

Screening for Familial Dysautonomia in Israel: Evidence for Higher Carrier Rate among Polish Ashkenazi Jews

Lehavi, Ofer, Aizenstein, Orna, Bercovich, Dani, Pavzner, Dina, Shomrat, Ruth, Orr-Urtreger, Avi, Yaron, Yuval

Journal:

Genetic Testing

Year:

2003

Language:

english

File:

PDF, 101 KB

english, 2003

4

MECP2 Mutations in Israel: Implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome

Yuval Yaron, Bruria Ben Zeev, Ruth Shomrat, Dani Bercovich, Tova Naiman, Avi Orr-Urtreger

Journal:

Year:

2002

Language:

english

File:

PDF, 92 KB

english, 2002

5

Detection of Duchenne muscular dystrophy gene products in amniotic fluid and chorionic villus sampling cells — Possible application for prenatal diagnosis

David Yaffe, Uri Nudel, Hagit Prigojin, Marina Brusel, Ora Fuchs, Ruth Shomrat, Cyril Legum

Journal:

Neuromuscular Disorders

Year:

1996

Language:

english

File:

PDF, 114 KB

english, 1996

6

Genetic counseling and molecular analysis of muscular dystrophy families in Israel

Cyril Legum, Avi Orr-Urtreger, Adi Ben Yehuda, Chedva Perek, Sigal Tsabari, Ruth Shomrat

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 128 KB

english, 1997

7

The Risk of Fragile X Premutation Expansion Is Lower in Carriers Detected by General Prenatal Screening Than in Carriers from Known Fragile X Families

Geva, Eli, Yaron, Yuval, Shomrat, Ruth, Ben-Yehuda, Adi, Zabari, Sigal, Peretz, Hedva, Naiman, Tova, Yeger, Hana, Orr-Urtreger, Avi

Journal:

Genetic Testing

Year:

2000

Language:

english

File:

PDF, 102 KB

english, 2000

8

Dynamic changes of red cell membrane thiol groups followed by bimane fluorescent labeling

Nechama S. Kosower, Edward M. Kosower, Yehudit Zipser, Zehava Faltin, Ruth Shomrat

Journal:

Biochimica et Biophysica Acta (BBA) - Biomembranes

Year:

1981

Language:

english

File:

PDF, 789 KB

english, 1981

9

Cytogenetic analysis of sinonasal carcinomas

Ziv Gil, Avi Orr-Urtreger, Nadia Voskoboinik, Leonor Trejo-Leider, Sergey Spektor, Ruth Shomrat, Dan M. Fliss

Journal:

Otolaryngology - Head and Neck Surgery

Year:

2006

Language:

english

File:

PDF, 239 KB

english, 2006

10

Large-scale population screening for spinal muscular atrophy: Clinical implications

Ben-Shachar, Shay, Orr-Urtreger, Avi, Bardugo, Eyal, Shomrat, Ruth, Yaron, Yuval

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 281 KB

english, 2011

11

Cytogenetic analysis of 101 skull base tumors

Ziv Gil, Avi Orr-Urtreger, Nadia Voskoboinik, Leonor Trejo-Leider, Ruth Shomrat, Dan M. Fliss

Journal:

Year:

2008

Language:

english

File:

PDF, 289 KB

english, 2008

12

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

Paul Rozen*, ‡, Ruth Shomrat§, Hana Strul*, ‡, Tova Naiman§, Nataly Karminsky∥, Cyril Legum§, ‡, Avi Orr-Urtreger§, ‡

Journal:

Gastroenterology

Year:

1999

Language:

english

File:

PDF, 859 KB

english, 1999

13

A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome

Blumkin, Lubov, Kivity, Sara, Lev, Dorit, Cohen, Sarit, Shomrat, Ruth, Lerman-Sagie, Tally, Leshinsky-Silver, Esther

Journal:

Journal of Neurology

Year:

2012

Language:

english

File:

PDF, 620 KB

english, 2012

14

Novel mutations in the emerin gene in Israeli families

Yoram Nevo, Sarit Ahituv, Yuval Yaron, Merav Kedmi, Ruth Shomrat, Cyril Legum, Avi Orr-Urtreger

Journal:

Year:

2001

Language:

english

File:

PDF, 34 KB

english, 2001

15

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

Dr. Ruth Shomrat, Eithan Gluck, Cyril Legum, Yosef Shiloh

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 535 KB

english, 1994

16

SMA type 2 unrelated to chromosome 5q13

Nevo, Yoram, Kramer, Uri, Legum, Cyril, Shomrat, Ruth, Fatal, Aviva, Soffer, Dov, Harel, Shaul, Shapira, Yehudah

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 85 KB

english, 1998

17

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

Paul Rozen, Tova Naiman, Hana Strul, Philipp Taussky, Nataly Karminsky, Ruth Shomrat, Ziona Samuel, Yuval Yaron, Avi Orr-Urtreger

Journal:

Year:

2002

Language:

english

File:

PDF, 92 KB

english, 2002

18

Familial adenomatous polyposis at the Tel Aviv Medical Center: demographic and clinical features

Paul Rozen, Ziona Samuel, Micha Rabau, Gideon Goldman, Ruth Shomrat, Cyril Legum, Avi Orr-Urtreger

Journal:

Familial Cancer

Year:

2001

Language:

english

File:

PDF, 182 KB

english, 2001

19

Diminished Capping of Lymphocytes From Pregnant Women

KOSOWER, NECHAMA S., SHOMRAT, RUTH

Journal:

American Journal of Reproductive Immunology

Year:

1983

Language:

english

File:

PDF, 444 KB

english, 1983

20

Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations

Zohar Landau, Aaron Hanukoglu, Joseph Sack, Nurit Goldstein, Naomi Weintrob, Alon Eliakim, David Gillis, Michal Sagi, Ruth Shomrat, Elka Bella Kosinovsky, Yair Anikster

Journal:

Clinical Endocrinology

Year:

2010

Language:

english

File:

PDF, 134 KB

english, 2010

21

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

Weiss, Karin, Orr-Urtreger, Avi, Kaplan Ber, Idit, Naiman, Tova, Shomrat, Ruth, Bardugu, Eyal, Yaron, Yuval, Ben-Shachar, Shay

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 395 KB

english, 2014

22

Fetal muscle biopsy as a diagnostic tool in Duchenne muscular dystrophy

Yoram Nevo, Ruth Shomrat, Yuval Yaron, Avi Orr-Urtreger, Shaul Harel, Cyril Legum

Journal:

Prenatal Diagnosis

Year:

1999

Language:

english

File:

PDF, 184 KB

english, 1999

23

Duchenne muscular dystrophy and idiopathic hyperCKemia segregating in a family

Moshe Frydman, Rachel Straussberg, Ruth Shomrat, Hans Goebel, Cyril Legum, Yossi Shiloh

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 371 KB

english, 1995

24

Mutations of the adenomatous polyposis coli and p53 genes in a child with Turcot's syndrome

Dalit Barel, Ian J. Cohen, Celia Mor, Sidi Stern, Rivka Shapiro, Ruth Shomrat, Yaron Galanti, Cyril Legum, Rina Zaizov, Smadar Avigad

Journal:

Year:

1998

Language:

english

File:

PDF, 308 KB

english, 1998

25

Predictive value of TP53 fluorescence in situ hybridization in cytogenetic subgroups of acute myeloid leukemia

Tavor, Sigal, Rothman, Rachel, Golan, Tamar, Voskoboinik, Nadia, Katz, Ben-Zion, Sarid, Nadav, Shomrat, Ruth, Orr-Urtreger, Avi, Naparstek, Elizabeth

Journal:

Leukemia and Lymphoma

Year:

2011

Language:

english

File:

PDF, 272 KB

english, 2011

26

Use of dystrophin genomic and cDNA probes for solving difficulties in carrier detection and prenatal diagnosis of Duchenne muscular dystrophy

Ruth Shomrat, Nava Driks, Cyril Legum, Yosef Shiloh

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 670 KB

english, 1992

27

Multiplex Nested PCR for Preimplantation Genetic Diagnosis of Spinal Muscular Atrophy

Malcov, Mira, Schwartz, Tamar, Mei-Raz, Nava, Yosef, Dalit Ben, Amit, Ami, Lessing, Joseph B., Shomrat, Ruth, Orr-Urtreger, Avi, Yaron, Yuval

Journal:

Fetal Diagnosis and Therapy

Year:

2004

Language:

english

File:

PDF, 93 KB

english, 2004

28

High Frequency of a Common Bloom Syndrome Ashkenazi Mutation Among Jews of Polish Origin

SHAHRABANI-GARGIR, LIMOR, SHOMRAT, RUTH, YARON, YUVAL, ORR-URTREGER, AVI, GRODEN, JOANNA, LEGUM, CYRIL

Journal:

Genetic Testing

Year:

1998

Language:

english

File:

PDF, 604 KB

english, 1998

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