検索結果 - Tamar Ben‐Yosef

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  1. 1
    Inherited Retinal Diseases

    Inherited Retinal Diseases 著者: Tamar Ben‐Yosef

    出版事項 2022
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    Editorial
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  2. 2
    Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic Aspects

    Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic Aspects 著者: Yasmin Tatour, Tamar Ben‐Yosef

    出版事項 2020
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    Revisão
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  3. 3
    Autosomal-Recessive Early-Onset Retinitis Pigmentosa Caused by a Mutation in PDE6G, the Gene Encoding the Gamma Subunit of Rod cGMP Phosphodiesterase

    Autosomal-Recessive Early-Onset Retinitis Pigmentosa Caused by a Mutation in PDE6G, the Gene Encoding the Gamma Subunit of Rod cGMP Phosphodiesterase 著者: Liron Dvir, Gassoub Srour, Rasmi Abu-Ras, Benjamin T. Miller, Stavit A. Shalev, Tamar Ben‐Yosef

    出版事項 2010
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    Artigo
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  4. 4
    Development of Novel Aminoglycoside (NB54) with Reduced Toxicity and Enhanced Suppression of Disease-Causing Premature Stop Mutations

    Development of Novel Aminoglycoside (NB54) with Reduced Toxicity and Enhanced Suppression of Disease-Causing Premature Stop Mutations 著者: Igor Nudelman, Annie Rebibo-Sabbah, Marina Cherniavsky, Valery Belakhov, Mariana Hainrichson, Fuquan Chen, Jochen Schacht, Daniel S. Pilch, Tamar Ben‐Yosef, Timor Baasov

    出版事項 2009
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    Artigo
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  5. 5
    CaV1.3 L-type Ca2+ channels modulate depression-like behaviour in mice independent of deaf phenotype

    CaV1.3 L-type Ca2+ channels modulate depression-like behaviour in mice independent of deaf phenotype 著者: Perrine Busquet, Ngoc Khoi Nguyen, Eduard Schmid, Naoyuki Tanimoto, Mathias W. Seeliger, Tamar Ben‐Yosef, Fengxia Mizuno, Abram Akopian, Jörg Striessnig, Nicolas Singewald

    出版事項 2009
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    Artigo
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  6. 6
    Homozygosity Mapping Reveals Null Mutations in FAM161A as a Cause of Autosomal-Recessive Retinitis Pigmentosa

    Homozygosity Mapping Reveals Null Mutations in FAM161A as a Cause of Autosomal-Recessive Retinitis Pigmentosa 著者: Dikla Bandah‐Rozenfeld, Liliana Mizrahi‐Meissonnier, Chen Farhy, Alexey Obolensky, Itay Chowers, Jacob Pe’er, Saul Merin, Tamar Ben‐Yosef, Ruth Ashery‐Padan, Eyal Banin, Dror Sharon

    出版事項 2010
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    Artigo
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  7. 7
    A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans

    A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans 著者: Samer Khateb, Björn Kowalewski, Nicola Bedoni, Markus Daμμe, Netta Pollack, Ann Saada, Alexey Obolensky, Tamar Ben‐Yosef, Menachem Gross, Thomas Dierks, Eyal Banin, Carlo Rivolta, Dror Sharon

    出版事項 2018
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    Artigo
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  8. 8
    A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews

    A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews 著者: Lina Zelinger, Eyal Banin, Alexey Obolensky, Liliana Mizrahi‐Meissonnier, Avigail Beryozkin, Dikla Bandah‐Rozenfeld, Shahar Frenkel, Tamar Ben‐Yosef, Saul Merin, Sharon Schwartz, Artur V. Cideciyan, Samuel G. Jacobson, Dror Sharon

    出版事項 2011
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    Artigo
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  9. 9
    Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss

    Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss 著者: Prasanthi Namburi, Rinki Ratnapriya, Samer Khateb, Csilla H. Lazar, Yael Kinarty, Alexey Obolensky, Inbar Erdinest, Devorah Marks-Ohana, Eran Pras, Tamar Ben‐Yosef, Hadas Newman, Menachem Gross, Anand Swaroop, Eyal Banin, Dror Sharon

    出版事項 2016
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    Errata/Corrigenda
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  10. 10
    Bi-allelic Truncating Mutations in CEP78 , Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss

    Bi-allelic Truncating Mutations in CEP78 , Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss 著者: Prasanthi Namburi, Rinki Ratnapriya, Samer Khateb, Csilla H. Lazar, Yael Kinarty, Alexey Obolensky, Inbar Erdinest, Devorah Marks-Ohana, Eran Pras, Tamar Ben‐Yosef, Hadas Newman, Menachem Gross, Anand Swaroop, Eyal Banin, Dror Sharon

    出版事項 2016
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    Artigo
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  11. 11
    Mutations in C2ORF71 Cause Autosomal-Recessive Retinitis Pigmentosa

    Mutations in C2ORF71 Cause Autosomal-Recessive Retinitis Pigmentosa 著者: Rob W.J. Collin, Christine Safieh, Karin W. Littink, Stavit A. Shalev, Hanna J. Garzozi, Leah Rizel, Anan H Abbasi, Frans P.M. Cremers, Anneke I. den Hollander, B. Jeroen Klevering, Tamar Ben‐Yosef

    出版事項 2010
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    Artigo
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  12. 12
    Spectrum of PEX1 and PEX6 variants in Heimler syndrome

    Spectrum of PEX1 and PEX6 variants in Heimler syndrome 著者: Claire E. L. Smith, James A. Poulter, Alex V. Levin, Jenina Capasso, Susan Price, Tamar Ben‐Yosef, Reuven Sharony, William G. Newman, Richard F. Shore, Steven J. Brookes, Alan J. Mighell, Chris F. Inglehearn

    出版事項 2016
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    Artigo
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  13. 13
    A Mutation of<i>PCDH15</i>among Ashkenazi Jews with the Type 1 Usher Syndrome

    A Mutation of<i>PCDH15</i>among Ashkenazi Jews with the Type 1 Usher Syndrome 著者: Tamar Ben‐Yosef, Seth Ness, Anne C. Madeo, Adi Bar-Lev, Jessica H. Wolfman, Zubair M. Ahmed, Robert J. Desnick, Judith P. Willner, Karen B. Avraham, Harry Ostrer, Carole Oddoux, Andrew J. Griffith, Thomas B. Friedman

    出版事項 2003
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    Artigo
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  14. 14
    Mutations in the Gene Encoding Tight Junction Claudin-14 Cause Autosomal Recessive Deafness DFNB29

    Mutations in the Gene Encoding Tight Junction Claudin-14 Cause Autosomal Recessive Deafness DFNB29 著者: Edward R. Wilcox, Quianna Burton, Sadaf Naz, Saima Riazuddin, Tenesha N. Smith, Barbara Ploplis, Inna A. Belyantseva, Tamar Ben‐Yosef, Nikki Liburd, Robert J. Morell, Bechara Kachar, Doris K. Wu, Andrew J. Griffith, Sheikh Riazuddin, Thomas B. Friedman

    出版事項 2001
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    Artigo
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  15. 15
    Novel Null Mutations in the<i>EYS</i>Gene Are a Frequent Cause of Autosomal Recessive Retinitis Pigmentosa in the Israeli Population

    Novel Null Mutations in the<i>EYS</i>Gene Are a Frequent Cause of Autosomal Recessive Retinitis Pigmentosa in the Israeli Population 著者: Dikla Bandah‐Rozenfeld, Karin W. Littink, Tamar Ben‐Yosef, Tim M. Strom, Itay Chowers, Rob W.J. Collin, Anneke I. den Hollander, L. Ingeborgh van den Born, Marijke N. Zonneveld, Saul Merin, Eyal Banin, Frans P.M. Cremers, Dror Sharon

    出版事項 2010
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    Artigo
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  16. 16
    Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration

    Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration 著者: Tamar Ben‐Yosef, Inna A. Belyantseva, Thomas L. Saunders, Elizabeth D. Hughes, Kohei Kawamoto, Christina M. Van Itallie, Lisa A. Beyer, Kärin Halsey, Donald J. Gardner, Edward R. Wilcox, Julia E. Rasmussen, James M. Anderson, David F. Dolan, Andrew Forge, Yehoash Raphael, Sally A. Camper, Thomas B. Friedman

    出版事項 2003
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    Artigo
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  17. 17
    Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)

    Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) 著者: Lonneke Haer‐Wigman, Horatio Hackett Newman, Rina Leibu, Nathalie M. Bax, Hagit Baris, Leah Rizel, Eyal Banin, Amir Massarweh, Susanne Roosing, Dirk J. Lefeber, Marijke N. Zonneveld-Vrieling, Ofer Isakov, Noam Shomron, Dror Sharon, Anneke I. den Hollander, Carel B. Hoyng, Frans P.M. Cremers, Tamar Ben‐Yosef

    出版事項 2015
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    Artigo
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  18. 18
    A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)

    A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC) 著者: Dror Sharon, Tamar Ben‐Yosef, Nitza Goldenberg‐Cohen, Eran Pras, Libe Gradstein, Shiri Zayit‐Soudry, Eedy Mezer, Dinah Zur, Anan H Abbasi, Christina Zeitz, Frans P.M. Cremers, Muhammad Imran Khan, Jaime Levy, Ygal Rotenstreich, Ohad S. Birk, Miriam Ehrenberg, Rina Leibu, Hadas Newman, Noam Shomron, Eyal Banin, Ido Perlman

    出版事項 2019
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    Artigo
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  19. 19
    Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases

    Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases 著者: Zeinab Fadaie, Laura Whelan, Tamar Ben‐Yosef, Adrian Dockery, Zelia Corradi, Christian Gilissen, Lonneke Haer‐Wigman, Jordi Corominas, Galuh Astuti, Laura de Rooij, L. Ingeborgh van den Born, Caroline C. W. Klaver, Carel B. Hoyng, Niamh Wynne, Emma Duignan, Paul F. Kenna, Frans P.M. Cremers, G. Jane Farrar, Susanne Roosing

    出版事項 2021
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    Artigo
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  20. 20
    Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies

    Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies 著者: Avigail Beryozkin, Elia Shevah, Adva Kimchi, Liliana Mizrahi‐Meissonnier, Samer Khateb, Rinki Ratnapriya, Csilla H. Lazar, Anat Blumenfeld, Tamar Ben‐Yosef, Yitzhak Hemo, Jacob Pe’er, Eduard Averbuch, Michal Sagi, Alexis Boleda, Linn Gieser, Abraham Zlotogorski, Tzipora C. Falik‐Zaccai, Ola Alimi-Kasem, Samuel G. Jacobson, Itay Chowers, Anand Swaroop, Eyal Banin, Dror Sharon

    出版事項 2015
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    Artigo
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