Search Results - "Philipsborn, Shira Litz"

Prenatal diagnosis of a likely pathogenic variant in ZBTB18: Natural evolution of fetal phenotype including the long bones and corpus callosum by Birnbaum, Roee, Markovitch, Ofer, Biron‐shental, Tal, Kidron, Debora, Ben‐Sira, Liat, Litz Philipsborn, Shira, Reinstein, Eyal

“…Pathogenic variants in ZBTB18 gene have been described only postnatally with a variable phenotypic spectrum that includes intellectual disability,…”
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Large scale population screening for Duchenne muscular dystrophy—Predictable and unpredictable challenges by Cohen, Gal, Shtorch‐Asor, Atalia, Ben‐Shachar, Shay, Goldfarb‐Yaacobi, Racheli, Kaiser, Meirav, Rosenfeld, Revital, Vinovezky, Mika, Irge, Dana, Furman, Yael, Reiss, Dafni, Litz‐Philipsborn, Shira, Sukenik‐Halevy, Rivka

“…Objective Large deletions and duplications account for 65%–80% of pathogenic Duchenne muscular dystrophy (DMD) variants. A nationwide carrier screening for DMD…”
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Recurring pathogenic variants in the BRCA2 gene in the Ethiopian Jewish population. Founder mutations? by Ludman, Mark D., Philipsborn, Shira Litz, Hartmajer, Shulamit, Shwartzman, Nitzan Sharon, Reinstein, Eyal

“…Mutations in the BRCA1 and BRCA2 genes increase the risk for various cancers including breast, ovarian, prostate, pancreas and melanoma. Identifying BRCA1/2…”
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Diagnostic yield of multigene panel testing in an Israeli cohort: enrichment of low-penetrance variants by Bernstein-Molho, Rinat, Friedman, Eitan, Kedar, Inbal, Laitman, Yael, Allweis, Tanir M., Gal-Yam, Einav Nili, Feldman, Hagit Baris, Grinshpun, Albert, Halpern, Naama, Hartmajer, Shulamit, Kadouri, Luna, Katz, Lior H., Kaufman, Bella, Laish, Ido, Levanon, Keren, Philipsborn, Shira Litz, Ludman, Mark, Moran, Gal, Peretz, Tamar, Reinstein, Eyal, Levi, Gili Reznick, Safra, Tamar, Shkedi, Shiri, Vinkler, Chana, Levy, Zohar, Goldberg, Yael

“…Background Carriers of pathogenic variants (PVs) in moderate–high-penetrance cancer susceptibility genes are offered tailored surveillance schemes for early…”
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Cancer risks in Jewish male BRCA1 and BRCA2 mutation carriers by Laitman, Yael, Keinan Boker, Lital, Liphsitz, Irena, Weissglas-Volkov, Daphna, Litz-Philipsborn, Shira, Schayek, Hagit, Friedman, Eitan

“…Cancer risks and tumor types in male BRCA1 and BRCA2 mutation carriers are still unsettled. Cancer risks in men who were found to harbor a BRCA1 ( n  = 150) or…”
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A founder mutation in TCTN2 causes Meckel-Gruber syndrome type 8 among Jews of Ethiopian and Yemenite origin by Litz Philipsborn, Shira, Hartmajer, Shulamit, Shtorch Asor, Atalia, Vinovezky, Mika, Regev, Miriam, Singer, Amihood, Reinstein, Eyal

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A founder mutation in TCTN2 causes Meckel‐Gruber syndrome type 8 among Jews of Ethiopian and Yemenite origin by Litz Philipsborn, Shira, Hartmajer, Shulamit, Shtorch Asor, Atalia, Vinovezky, Mika, Regev, Miriam, Singer, Amihood, Reinstein, Eyal

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The impact of third-trimester genetic counseling by Sharony, Reuven, Engel, Offra, Litz-Philipsborn, Shira, Sukenik-Halevy, Rivka, Biron-Shental, Tal, Evans, Mark I.

“…Objective To evaluate the impact of genetic counseling (GC) during the third trimester by analyzing changes in pregnancy management and the correlation with…”
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Prenatal diagnosis of a likely pathogenic variant in ZBTB18: Natural evolution of fetal phenotype including the long bones and corpus callosum by Birnbaum, Roee, Markovitch, Ofer, Biron-Shental, Tal, Kidron, Debora, Ben-Sira, Liat, Litz Philipsborn, Shira, Reinstein, Eyal

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