Search Results - "Shomrat, R"

Notable intrafamilial phenotypic variability in a kindred with familial adenomatous polyposis and an APC mutation in exon 9 by ROZEN, P, SAMUEL, Z, SHOMRAT, R, LEGUM, C

“…The phenotypic spectrum of familial adenomatous polyposis (FAP) varies from the classic appearance of hundreds of adenomatous colonic polyps in the young adult…”
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Prevalence of the I1307K APC gene variant in Israeli Jews of differing ethnic origin and risk for colorectal cancer by ROZEN, P, SHOMRAT, R, STRUL, H, NAIMAN, T, KARMINSKY, N, LEGUM, C, ORR-URTREGER, A

“…Background & Aims: Israeli Jews of European birth, i.e., Ashkenazim, have the highest colorectal cancer incidence of any Israeli ethnic group. The I1307K APC…”
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Adrenal hypoplasia congenita with multiple pituitary hormone deficiency without documented mutation in DAX1 or SF1 gene by Shalitin, S, Josefsberg, Z, Vilain, E, Shomrat, R, Weintrob, N

“…A boy with adrenal hypoplasia congenita (AHC) and multiple pituitary hormone deficiency (MPHD), without mutations in the DAX1 or SF1 genes, is described. The…”
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Novel mutations in the emerin gene in Israeli families by Nevo, Yoram, Ahituv, Sarit, Yaron, Yuval, Kedmi, Merav, Shomrat, Ruth, Legum, Cyril, Orr-Urtreger, Avi

“…Emery‐Dreifuss Muscular Dystrophy (EMD or EDMD) is a rare X‐linked recessive disorder, characterized by progressive muscle wasting and weakness, contractures,…”
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Large-scale population screening for spinal muscular atrophy: Clinical implications by Ben-Shachar, Shay, Orr-Urtreger, Avi, Bardugo, Eyal, Shomrat, Ruth, Yaron, Yuval

“…To determine the frequency of SMN1 deletion carriers in the Israeli population and to assess the feasibility of population screening for spinal muscular…”
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A molecular survey of Israeli Duchenne and Becker muscular dystrophy patients by Legum, C, Shomrat, R, Glassner, M, Shiloh, Y

“…Duchenne (DMD) and Becker (BMD) muscular dystrophy are allelic X-linked recessive diseases caused by a mutation in the dystrophin gene located on the short arm…”
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Relatively low proportion of dystrophin gene deletions in Israeli Duchenne and Becker muscular dystrophy patients by Shomrat, R, Gluck, E, Legum, C, Shiloh, Y

“…Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are allelic disorders caused by mutations in the X-linked dystrophin gene. The most…”
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Use of dystrophin genomic and cDNA probes for solving difficulties in carrier detection and prenatal diagnosis of Duchenne muscular dystrophy by Shomrat, R, Driks, N, Legum, C, Shiloh, Y

“…Duchenne muscular dystrophy (DMD) results from mutations in the X-linked gene coding for the muscular protein dystrophin. The isolation of genomic and cDNA…”
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Rett Syndrome: Clinical Manifestations in Males With MECP2 Mutations by Ben Zeev, Bruria, Yaron, Yuval, Schanen, N. Carolyn, Wolf, Haika, Brandt, Nathan, Ginot, Nathan, Shomrat, Ruth, Orr-Urtreger, Avi

“…Rett syndrome is a neurodevelopmental disorder characterized by cognitive and adaptive regression with autistic features, loss of acquired skills, and…”
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The risk of fragile X premutation expansion is lower in carriers detected by general prenatal screening than in carriers from known fragile X families by Geva, E, Yaron, Y, Shomrat, R, Ben-Yehuda, A, Zabari, S, Peretz, H, Naiman, T, Yeger, H, Orr-Urtreger, A

“…The Fragile X syndrome is the most common cause of inherited mental retardation. For a female premutation carrier, the risk of having a child with a full…”
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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 by ROZEN, Paul, NAIMAN, Tova, STRUL, Hana, TAUSSKY, Philipp, KARMINSKY, Nataly, SHOMRAT, Ruth, SAMUEL, Ziona, YARON, Yuval, ORR-URTREGER, Avi

“…The authors previously found the I1307K adenomatous polyposis coli (APC) gene variant in 5% of Ashkenazi control participants, in 15.4% of those who had…”
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Cytogenetic analysis of sinonasal carcinomas by Gil, Ziv, Orr-Urtreger, Avi, Voskoboinik, Nadia, Trejo-Leider, Leonor, Spektor, Sergey, Shomrat, Ruth, Fliss, Dan M.

“…Sinonasal carcinomas, including nonkeratinizing (NK) squamous cell carcinoma (SCC) and sinonasal undifferentiated carcinoma (SNUC), are uncommon malignant…”
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Ultrastructure of the conjunctiva, skin, and gingiva: a case of Sandhoff's disease in a Jewish patient by Messer, G, Harel, S, Erlich, B, Navon, R, Nemet, P, Sarnat, H, Shomrat, R, Legum, C

“…Pleomorphic membranous cytoplasmic bodies that indicated glycolipid storage were found in the conjunctiva, skin, and gingiva of a Jewish patient with…”
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Duchenne muscular dystrophy and idiopathic hyperCKemia segregating in a family by Frydman, M, Straussberg, R, Shomrat, R, Goebel, H, Legum, C, Shiloh, Y

“…A 7-month-old boy with gross motor delay and failure to thrive presented with rhabdomyolysis following an acute asthmatic episode. During hospitalization an…”
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Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population by Horowitz, Mia, Pasmanik-Chor, Metsada, Borochowitz, Zvi, Falik-Zaccai, Tzipora, Heldmann, Keren, Carmi, Rivka, Parvari, Ruth, Beit-Or, Hannah, Goldman, Boleslav, Peleg, Lea, Levy-Lahad, Ephrat, Renbaum, Paul, Legum, Searl, Shomrat, Ruth, Yeger, Hannah, Benbenisti, Dalit, Navon, Ruth, Dror, Vardit, Shohat, Mordechai, Magal, Nurit, Navot, Nir, Eyal, Nurit

“…Gaucher disease is the most prevalent inherited disease among Ashkenazi Jews. It is very heterogeneous due to a large number of mutations within the…”
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Notable intrafamilial phenotypic variability in a kindred with familial adenomatous polyposis and an APCmutation in exon 9 by Rozen, P, Samuel, Z, Shomrat, R, Legum, C

“…BACKGROUND The phenotypic spectrum of familial adenomatous polyposis (FAP) varies from the classic appearance of hundreds of adenomatous colonic polyps in the…”
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Multiplex nested PCR for preimplantation genetic diagnosis of spinal muscular atrophy by Malcov, Mira, Schwartz, Tamar, Mei-Raz, Nava, Yosef, Dalit Ben, Amit, Ami, Lessing, Joseph B, Shomrat, Ruth, Orr-Urtreger, Avi, Yaron, Yuval

“…Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder caused in most patients by homozygous deletion of the SMN1 gene. For a…”
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Early pregnancy screening for neural tube defects in Israel by Legum, C, Shomrat, R, Yedwab, G, Jaffa, A J, Rudick, A

“…A pilot project to detect neural tube defects (NTD) of the fetus by maternal serum alpha-fetoprotein (MSAFP) screening of women in early pregnancy was…”
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Familial adenomatous polyposis at the Tel Aviv Medical Center: demographic and clinical features by Rozen, P, Samuel, Z, Rabau, M, Goldman, G, Shomrat, R, Legum, C, Orr-Urtreger, A

“…Familial adenomatous polyposis (FAP) is an uncommon, but widespread genetic disorder that develops multiple colonic adenomatous polyps and, if untreated, can…”
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Fetal muscle biopsy as a diagnostic tool in Duchenne muscular dystrophy by Nevo, Yoram, Shomrat, Ruth, Yaron, Yuval, Orr-Urtreger, Avi, Harel, Shaul, Legum, Cyril

“…Duchenne muscular dystrophy (DMD) is a relentless progressive disorder, leading to severe disability during childhood and death in adolescence or early…”
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