Search

Your search keyword '"Shomrat, Ruth"' showing total 37 results
Start Over Author "Shomrat, Ruth"
37 results on '"Shomrat, Ruth"'

5. Clinical and screening implications of the I1307K adenomatous polyposis coli gene variant in Israeli Ashkenazi Jews with familial colorectal neoplasia

Author

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

Subjects
Medical research -- Analysis, Colorectal cancer -- Demographic aspects, Ashkenazim -- Health aspects, Polyposis, Familial -- Care and treatment, Cancer -- Genetic aspects, Medical screening -- Usage, Gene expression -- Physiological aspects, Health
Published
2002

21. Mutations of the adenomatous polyposis coli and p53 genes in a child with Turcot's syndrome1This work is in partial fulfillment of the requirements for the Ph.D. degree of D. Barel, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.1

Author

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

Published
1998
Full Text
View/download PDF

22. SMA type 2 unrelated to chromosome 5q13

Author

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

Published
1998
Full Text
View/download PDF

23. Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population

Author

Horowitz, Mia, primary, Pasmanik-Chor, Metsada, additional, Borochowitz, Zvi, additional, Falik-Zaccai, Tzipora, additional, Heldmann, Keren, additional, Carmi, Rivka, additional, Parvari, Ruth, additional, Beit-Or, Hannah, additional, Goldman, Boleslav, additional, Peleg, Lea, additional, Levy-Lahad, Ephrat, additional, Renbaum, Paul, additional, Legum, Searl, additional, Shomrat, Ruth, additional, Yeger, Hannah, additional, Benbenisti, Dalit, additional, Navon, Ruth, additional, Dror, Vardit, additional, Shohat, Mordechai, additional, Magal, Nurit, additional, Navot, Nir, additional, and Eyal, Nurit, additional

Published
1998
Full Text
View/download PDF

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

Author

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

Subjects
ACUTE myeloid leukemia diagnosis, KARYOTYPES, DIAGNOSTIC use of fluorescence in situ hybridization, CHROMOSOME abnormalities, DRUG therapy, PROGNOSIS
Abstract

Acute myeloid leukemia (AML) with a complex karyotype (CK) has frequent alterations in TP53 and a very poor prognosis. We examined whether a prompt and simple fluorescence in situ hybridization (FISH) analysis for 17p13 deletion at diagnosis has a predictive value for response to therapy and overall survival in subgroups of AML. In 15 patients with a normal karyotype the TP53 FISH analysis was normal, whereas in 16 patients with CK 75%% had only one copy of the TP53 allele. The deletion was also detected in 33%% of six patients with monosomy or partial monosomy of chromosome 5, 7, 9, or 12. This loss of TP53 correlated significantly with a poor response to chemotherapy, and the median survival time of these patients was shorter. TP53 FISH analysis carried out at diagnosis has a predictive value with respect to chemotherapy response and can therefore facilitate a rapid decision on treatment strategies. [ABSTRACT FROM AUTHOR]

Published
2011
Full Text
View/download PDF

32. Cytogenetic analysis of 101 skull base tumors.

Author

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

Subjects
SKULL base, CHROMOSOME abnormalities, CANCER patients, SQUAMOUS cell carcinoma, CANCER treatment, MEDICAL research, TUMORS
Abstract

Background. Skull base tumors are rare neoplasms and the cytogenetic data on these tumors are limited. The authors cytogenetically analyzed a large series of tumors and compared the findings with patients' pathologic data. Methods. The karyotypes of pathologically confirmed samples of 101 patients, who were operated for oncological extirpation of tumors, were analyzed using G-banding and spectral-karyotyping techniques. Results. Of the 67 malignant tumors, 32 (48%) had chromosomal aberrations, some with complex numerical and structural chromosomal anomalies. Recurrent chromosomal breakpoints were identified in squamous cell carcinomas, adenoid cystic carcinomas (ACCs), sinonasal undifferentiated carcinomas, chordomas, and sarcomas. Specific breakpoints established the diagnosis of various soft tissue sarcomas. Novel chromosomal aberrations were found in various other malignant and benign tumors. Conclusion. This study highlights the value of cytogenetic analysis for diagnosis of skull base tumors. The data add further information on the biological behavior of these rare neoplasms. © 2007 Wiley Periodicals, Inc. Head Neck, 2008 [ABSTRACT FROM AUTHOR]

Published
2008
Full Text
View/download PDF

33. Rett Syndrome: Clinical Manifestations in Males With MECP2 Mutations.

Author

Zeev, Bruria Ben, Yaron, Yuval, Schanen, N. Carolyn, Wolf, Haika, Brandt, Nathan, Ginot, Nathan, Shomrat, Ruth, and Orr-Urtreger, Avi

Subjects
RETT syndrome, INTELLECTUAL disabilities
Abstract

Rett syndrome is a neurodevelopmental disorder characterized by cognitive and adaptive regression with autistic features, loss of acquired skills, and stereotypic hand movements that almost exclusively affects females. It is an X-linked dominant disorder, with presumed lethality in males. Nonetheless, there are a few descriptions of males suspected of having Rett syndrome. With the recent discovery that the MECP2 gene is responsible for most cases of Rett syndrome, it is possible to molecularly assess cases of affected males by direct sequencing analysis. We describe an Israeli family consisting of a female having classic Rett syndrome and a male sibling with severe neonatal encephalopathy. Molecular analysis revealed that both sister and brother have the same MECP2 gene mutation; however, their mother does not. This case, as well as other published studies of males with MECP2 mutations, reveals that the clinical manifestations in viable males vary from neonates with severe encephalopathy to adults with mental retardation and demonstrate genotype-phenotype correlations. (J Child Neurol 2002;17:20–24). [ABSTRACT FROM AUTHOR]

Published
2002
Full Text
View/download PDF

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

Author

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

Abstract

Background & Aims:Israeli Jews of European birth, i.e., Ashkenazim, have the highest colorectal cancer incidence of any Israeli ethnic group. The I1307K APCgene variant was found in 6.1% of American Jews, 28% of their familial colorectal cancer cases, but not in non-Jews. We assessed the I1307K prevalence in Israeli Jews of differing ethnic origin and risk for colorectal cancer. Methods:DNA samples from 500 unrelated Jews of European or non-European origin, with or without a personal and/or family history of neoplasia, were examined for the I1307K variant by the allele-specific oligonucleotide (ASO) method. Results:In persons at average risk for colorectal cancer, I1307K was found in 5.0% of 120 European and 1.6% of 188 non-European Jews (P= 0.08). It occurred in 15.4% of 52 Ashkenazi Israelis with familial cancer (P= 0.02) and was not detected in 51 non-European Jews at increased cancer risk. Colorectal neoplasia occurred personally or in the families of 13 of 20 Ashkenazi I1307K carriers, 8 of whom also had a personal or family history of noncolonic neoplasia. Conclusions:The I1307K APCvariant may represent a susceptibility gene for colorectal, or other, cancers in Ashkenazi Jews, and partially explains the higher incidence of colorectal cancer in European Israelis.

Published
1999
Full Text
View/download PDF

37. Cytogenetic analysis of sinonasal carcinomas.

Author

Gil Z, Orr-Urtreger A, Voskoboinik N, Trejo-Leider L, Spektor S, Shomrat R, and Fliss DM

Subjects
Adolescent, Adult, Aged, Carcinoma pathology, Carcinoma surgery, Chromosome Aberrations, Female, Humans, Karyotyping, Male, Middle Aged, Nose Neoplasms pathology, Nose Neoplasms surgery, Paranasal Sinus Neoplasms pathology, Paranasal Sinus Neoplasms surgery, Prognosis, Retrospective Studies, Carcinoma genetics, Nose Neoplasms genetics, Paranasal Sinus Neoplasms genetics
Abstract

Background: Sinonasal carcinomas, including nonkeratinizing (NK) squamous cell carcinoma (SCC) and sinonasal undifferentiated carcinoma (SNUC), are uncommon malignant neoplasms arising from the Schneiderian respiratory epithelium of the nasal cavity and paranasal sinuses. Due to their low frequency, the cytogenetic data on these tumors is limited., Methods: Seventeen patients who were operated on in our institution for extirpation of paranasal carcinomas were enrolled in this study. Fourteen pathologically confirmed samples of sinonasal carcinomas were cytogenetically analyzed using G-banding techniques after short-term culture. Three samples did not grow on culture., Results: Five of the 14 sinonasal carcinomas had an abnormal karyotype (36%). Of the 9 NK SCCs, 3 had abnormal karyotypes with numerical and structural chromosomal anomalies. Of the 5 patients with SNUC, 2 had an abnormal karyotype. One case of SNUC had a diploid complex karyotype. Another case of SNUC had a near triploid composite karyotype with 60-69 chromosomes. The chromosome arms that involved frequent breakpoint and rearrangements were: 1p, 6p, 7p, and 12q. We found that 3 of the 3 patients who died of disease displayed an abnormal karyotype, whereas 2 of the 11 patients who are alive displayed an abnormal karyotype (P = 0.027)., Conclusions: The study revealed that more than a third of the paranasal carcinomas carry an abnormal karyotype. No specific common aberrations were found in these tumors. To our knowledge this is the first attempt to investigate sinonasal squamous and undifferentiated carcinomas on a genetic level using G-banding technique. Additional studies are required in order to determine whether cytogenetic data may serve as an adjunct to conventional pathology for the diagnosis and prognosis assessment of these rare and highly aggressive tumors.

Published
2006
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results