Výsledky vyhledávání - "Shlomit Eisenberg"

Akademický článek

Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families

Autor: Lior Greenbaum, Ben Pode-Shakked, Shlomit Eisenberg-Barzilai, Michal Dicastro-Keidar, Anat Bar-Ziv, Nurit Goldstein, Haike Reznik-Wolf, Hana Poran, Amihai Rigbi, Ortal Barel, Aida M. Bertoli-Avella, Peter Bauer, Miriam Regev, Annick Raas-Rothschild, Elon Pras, Michal Berkenstadt

Publikováno v: Frontiers in Genetics, Vol 10 (2019)

Prenatal ultrasound (US) abnormalities often pose a clinical dilemma and necessitate facilitated investigations in the search of diagnosis. The strategy of pursuing fetal whole-exome sequencing (WES) for pregnancies complicated by abnormal US finding

Externí odkaz: https://doaj.org/article/a7bd0eff5ffc4ff1adbd0a70c057662f

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Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy

Autor: Lakshmi Mehta, Michal Berkenstadt, Sylvie Polak-Charcon, Reuven Achiron, Shlomit Eisenberg-Barzilai, Elon Pras, Moshe Frydman, Haike Reznik-Wolf, Carina Wallgren-Pettersson, Hagith Yonath, Vilma-Lotta Lehtokari, Yinon Gilboa, Thomas L. Winder

Publikováno v: Prenatal Diagnosis. 32:70-74

Objective To increase awareness to the possibility of nemaline myopathy (NM) when abnormal prenatal ultrasound findings appear together with a carrier state for the common exon 55 deletion in the nebulin gene (NEB) of an Ashkenazi Jewish parent. Meth

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::38ef473a43c40ac87fbf2302974bbb68
https://doi.org/10.1002/pd.2905

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Offspring Gender Ratio and the Rate of Recurrent Spontaneous Miscarriages in Jewish Women at High Risk for Breast/Ovarian Cancer

Autor: Tal Diestelman-Menachem, Eitan Friedman, Shlomit Eisenberg-Barzilai, Ruth Gershoni-Baruch, Inbar Gal, Moshe Z. Papa, Bernice Oberman, Siegal Sadetzki, Howard Carp

Publikováno v: The American Journal of Human Genetics. 74:1270-1275

BRCA1/BRCA2 germline mutations are associated with an increased breast/ovarian cancer risk. Offspring gender ratios may be skewed against male births in BRCA1 mutation carriers. In addition, the lack of viable homozygous BRCA1/BRCA2-mutation carriers

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d29a87f477cc0d6d482e193f6658825a
https://doi.org/10.1086/421442

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A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families

Autor: Hava Peretz, Emanuel Yakobson, Josep Malvehy, Raphael Shafir, Agnès Chompret, Vladimir Sobolev, M. F. Avril, Anna Ruiz, Mark Safro, Suzana Puig, Gordon Peters, Shlomit Eisenberg, Raphael Catane, Brigitte Bressac-de Paillerets, Ruth Isacson, David Halle, Thomas Huot, Efrat Levy-Lahad

Publikováno v: European Journal of Human Genetics. 11:288-296

We have screened for CDKN2A germline mutations in 49 Jewish families with two or more cases of melanoma. The Val59Gly mutation, one of the three different alterations identified among these families, was also detected independently in two kindreds fr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fe54a25957145f1c32ce891d74fc910
https://doi.org/10.1038/sj.ejhg.5200961

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Expression of the familial Mediterranean fever gene and activity of the C5a inhibitor in human primary fibroblast cultures

Autor: Polina Stepensky, Sima Calco, Eli Shapiro, Shlomit Eisenberg, Suzan Abedat, Ariela Bar-Gil-Shitrit, Simcha Urieli-Shoval, Yaacov Matzner, Yehudit Azar

Publikováno v: Blood. 96:727-731

Familial Mediterranean fever (FMF) is an inherited disease whose manifestations are acute but reversible attacks of sterile inflammation affecting synovial and serosal spaces. The FMF gene (MEFV) was recently cloned, and it codes for a protein (pyrin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::403c402f11a22bea074c761f24423604
https://doi.org/10.1182/blood.v96.2.727.014k14_727_731

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Widespread Expression of Serum Amyloid A in Histologically Normal Human Tissues: Predominant Localization to the Epithelium

Autor: Yaacov Matzner, Patrizia Cohen, Shlomit Eisenberg, Simcha Urieli-Shoval

Publikováno v: Journal of Histochemistry & Cytochemistry. 46:1377-1384

SUMMARY Serum amyloid A (SAA) is an acute-phase reactant whose level in the blood is elevated to 1000-fold as part of the body’s responses to various injuries, including trauma, infection, inflammation, and neoplasia. As an acute-phase reactant, th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bed0ecba3872a63a0417201fe5e3341
https://doi.org/10.1177/002215549804601206

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Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy

Autor: Hagith, Yonath, Haike, Reznik-Wolf, Michal, Berkenstadt, Shlomit, Eisenberg-Barzilai, Vilma-Lotta, Lehtokari, Carina, Wallgren-Pettersson, Lakshmi, Mehta, Reuven, Achiron, Yinon, Gilboa, Sylvie, Polak-Charcon, Thomas, Winder, Moshe, Frydman, Elon, Pras

Publikováno v: Prenatal diagnosis. 32(1)

To increase awareness to the possibility of nemaline myopathy (NM) when abnormal prenatal ultrasound findings appear together with a carrier state for the common exon 55 deletion in the nebulin gene (NEB) of an Ashkenazi Jewish parent.We describe fou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6317ffbc846f629f6623f315f22cab7a
https://pubmed.ncbi.nlm.nih.gov/22367672

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HLA polymorphism in Moroccan Jewry

Autor: Lior Shapira, Chaim Brautbar, Adam Friedmann, Cilly Safirman, I. Cohen, Michael Sela, Anat Roitberg-Tambur, Leontina Sherman, W. Aubrey Soskolne, Shoshana Battat, Campbell S. Witt, Shlomit Eisenberg

Publikováno v: Human Immunology. 40:61-67

The Moroccan Jewish community living in Israel shows a relatively large genetic distance from other North African Jewish communities. In this work the polymorphism of HLA class I and class II determinants, as defined by serology and oligotyping, is a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::511a8e584433e735455f08aface637d4
https://doi.org/10.1016/0198-8859(94)90022-1

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The 1100delAT BRCA1 and the 8765delAG BRCA2 mutations: occurrence in high-risk non-Ashkenazi Jews and haplotype comparison of Jewish and non-Jewish carriers

Autor: Shlomit Eisenberg-Barzilai, Daniel A. Haber, Jamal Zidan, Ruth Gershoni Baruch, Eitan Friedman, Efrat Dagan, Inbar Gal

Publikováno v: Familial cancer. 3(1)

Few mutations have been described in BRCA1 and BRCA2 in high-risk non-Ashkenazi Jews. In a Libyan family the 1100delAT BRCA1 mutation was detected and the 8765delAG BRCA2 mutation was previously described in two Jewish-Yemenite-families. In this stud

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::565627211076ba9e5fa91429de0cfa0a
https://pubmed.ncbi.nlm.nih.gov/15131400

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Diagnosis of Familial Mediterranean Fever by a Molecular Genetics Method

Autor: Shlomit Eisenberg, Zuoming Deng, Daniel L. Kastner, Ivona Aksentijevich, Yaacov Matzner

Publikováno v: Annals of Internal Medicine. 129:539

Background: Familial Mediterranean fever is a recessively inherited disorder characterized by episodes of fever with abdominal pain, pleurisy, or arthritis. The familial Mediterranean fever gene, d...

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c51c540c8bba90b0529b06bd2947604a
https://doi.org/10.7326/0003-4819-129-7-199810010-00005

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