Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Tzvia, Rosen"'
Autor:
Mary Claire King, Adi Aran, Tom Walsh, Kouichi Funato, Ephrat Levy-Lahad, Haruka Okai, Tzvia Rosen, Hiroto Denda, Hiroki Nakamura, Paul Renbaum, Sharon Zeligson, Katsuki Eto, Suleyman Gulsuner, Reeval Segel, Rachel Beeri
Publikováno v:
neurogenetics. 21:259-267
Deficiency of the endoplasmic reticulum transmembrane protein ARV1 leads to epileptic encephalopathy in humans and in mice. ARV1 is highly conserved, but its function in human cells is unknown. Studies of yeast arv1 null mutants indicate that it is i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b836c2ae0f5cd075baf3991f69273846
https://doi.org/10.1007/s10048-020-00615-4
https://doi.org/10.1007/s10048-020-00615-4
Autor:
Ephrat Levy-Lahad, Sharon Zeligson, Carmit Avnon Ziv, Abdulsalam Abu-Libdeh, David Zangen, Paul Renbaum, Tehila Klopstock, Eran Lavi, Reeval Segel, Floris Levy-Khademi, Doron M. Behar, Boris Chertin, Tzvia Rosen, Shira Perlberg-Bengio, Fouad Zahdeh
Publikováno v:
Endocrine. 69:650-654
Mutations in the gene HSD17B3 encoding the 17-beta hydroxysteroid dehydrogenase 3 enzyme cause testosterone insufficiency leading to XY disorders of sex development. In this study the clinical and molecular characteristics of three patients from cons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e7bf07982e4d6a37d603480ef3afe154
https://doi.org/10.1007/s12020-020-02327-z
https://doi.org/10.1007/s12020-020-02327-z
Autor:
David A. Zeevi, Sophie Kirshberg, Dina Kort, Sharon Zeligson, Aharon Peretz, Ephrat Levy-Lahad, Tal Dror, Gheona Altarescu, Yehuda Kling, Fouad Zahdeh, Tzvia Rosen, Reeval Segel, Daniel Backenroth, Efrat Burak, David Zangen, Shai Carmi
Publikováno v:
Genetics in Medicine. 21:1390-1399
To develop an economical, user-friendly, and accurate all-in-one next-generation sequencing (NGS)-based workflow for single-cell gene variant detection combined with comprehensive chromosome screening in a 24-hour workflow protocol. We subjected sing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::931d22aef20c987973cd603262342b6f
https://doi.org/10.1038/s41436-018-0351-7
https://doi.org/10.1038/s41436-018-0351-7
Autor:
Floris, Levy-Khademi, Sharon, Zeligson, Eran, Lavi, Tehila, Klopstock, Boris, Chertin, Carmit, Avnon-Ziv, Abdulsalam, Abulibdeh, Paul, Renbaum, Tzvia, Rosen, Shira, Perlberg-Bengio, Fouad, Zahdeh, Doron M, Behar, Ephrat, Levy-Lahad, David, Zangen, Reeval, Segel
Publikováno v:
Endocrine. 69(3)
Mutations in the gene HSD17B3 encoding the 17-beta hydroxysteroid dehydrogenase 3 enzyme cause testosterone insufficiency leading to XY disorders of sex development. In this study the clinical and molecular characteristics of three patients from cons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8e207beaab013948b3de3cecced0bff6
https://pubmed.ncbi.nlm.nih.gov/32372306
https://pubmed.ncbi.nlm.nih.gov/32372306
Autor:
Gheona Altarescu, David A. Zeevi, Hananel E.G. Holzer, Paul Renbaum, Tzvia Rosen, Raphael Ron-El, Talia Eldar-Geva, Ephrat Levy-Lahad, Yehuda Kling, Fouad Zahdeh
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-9 (2018)
Scientific Reports
Scientific Reports
Prenatal genetic testing is not generally applicable to the very early stages of pregnancy (prior to week 8 gestation), a time period that is crucial to pregnant couples with high risk for transmission of genetic disease to their fetus. Therefore, we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08d00b778d0c6d695ff2d1bc24021e6d
https://doi.org/10.1038/s41598-018-34396-6
https://doi.org/10.1038/s41598-018-34396-6
Autor:
S. Kirshberg, Tzvia Rosen, R. Granit, David A. Zeevi, Rachel Beeri, Sharon Zeligson, P. Renbaum, Gheona Altarescu, S. Shaviv, T. Dror
Publikováno v:
Reproductive BioMedicine Online. 39:e57
Introduction Low pass high throughput sequencing has become a choice method for obtaining chromosome copy number information from biopsies of pre-implantation embryos. In addition to large copy number variants (CNVs) in human embryo samples, data set
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::898055b2ba7f66f4d10d332d3e076fe5
https://doi.org/10.1016/j.rbmo.2019.04.103
https://doi.org/10.1016/j.rbmo.2019.04.103
Autor:
David A. Zeevi, Yehuda Kling, Fouad Zahdeh, Daniel Backenroth, Aaron Perez, Gheona Altarescu, Ephrat Levy-Lahad, Shai Carmi, Tzvia Rosen
Publikováno v:
Reproductive BioMedicine Online. 38:e13
Introduction Recent technological advances have enabled combined gene mutation detection and comprehensive chromosome screening (CCS) from a single embryo biopsy by means of microarray or high coverage next generation sequencing (NGS) technologies. H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8cadacfa6f551fd717da50ac511380b7
https://doi.org/10.1016/j.rbmo.2019.03.024
https://doi.org/10.1016/j.rbmo.2019.03.024
Autor:
Segel, Reeval, Aran, Adi, Gulsuner, Suleyman, Nakamura, Hiroki, Rosen, Tzvia, Walsh, Tom, Denda, Hiroto, Zeligson, Sharon, Eto, Katsuki, Beeri, Rachel, Okai, Haruka, King, Mary-Claire, Levy-Lahad, Ephrat, Funato, Kouichi, Renbaum, Paul
Publikováno v:
Neurogenetics; Oct2020, Vol. 21 Issue 4, p259-267, 9p
The novel founder homozygous V225M mutation in the HSD17B3 gene causes aberrant splicing and XY-DSD.
Autor:
Levy-Khademi, Floris, Zeligson, Sharon, Lavi, Eran, Klopstock, Tehila, Chertin, Boris, Avnon- Ziv, Carmit, Abulibdeh, Abdulsalam, Renbaum, Paul, Rosen, Tzvia, Perlberg-Bengio, Shira, Zahdeh, Fouad, Behar, Doron M., Levy-Lahad, Ephrat, Zangen, David, Segel, Reeval
Publikováno v:
Endocrine (1355008X); Sep2020, Vol. 69 Issue 3, p650-654, 5p
Autor:
Aran, Adi, Segel, Reeval, Kaneshige, Kota, Gulsuner, Suleyman, Renbaum, Paul, Oliphant, Scott, Meirson, Tomer, Weinberg-Shukron, Ariella, Hershkovitz, Yair, Zeligson, Sharon, Ming K. Lee, Samson, Abraham O., Parsons, Stanley M., King, Mary-Claire, Levy-Lahad, Ephrat, Walsh, Tom, Lee, Ming K
Publikováno v:
Neurology; 3/14/2017, Vol. 88 Issue 11, p1021-1028, 8p