Resultats de la cerca - Lina Basel‐Vanagaite

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  1. 1
    The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation

    The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation per Lina Basel‐Vanagaite

    Publicat 2005
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  2. 2
    Genotype-phenotype correlation in 22q11.2 deletion syndrome

    Genotype-phenotype correlation in 22q11.2 deletion syndrome per Elena Michaelovsky, Amos Frisch, Miri Carmel, Miriam Patya, Omer Zarchi, Tamar Green, Lina Basel‐Vanagaite, Abraham Weizman, Doron Gothelf

    Publicat 2012
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  3. 3
    Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested

    Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested per Lina Basel‐Vanagaite, Naama Orenstein, Keren Markus‐Bustani, Noa Ruhrman‐Shahar, Yael Kilim, Nurit Magal, Monika Weisz Hubshman, Lily Bazak

    Publicat 2018
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  4. 4
    Bayesian-based noninvasive prenatal diagnosis of single-gene disorders

    Bayesian-based noninvasive prenatal diagnosis of single-gene disorders per Tom Rabinowitz, Avital Polsky, David E. Golan, Artem Danilevsky, Guy Shapira, Chen Raff, Lina Basel‐Vanagaite, Reut Matar, Noam Shomron

    Publicat 2019
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  5. 5
    Fragile-X Carrier Screening and the Prevalence of Premutation and Full-Mutation Carriers in Israel

    Fragile-X Carrier Screening and the Prevalence of Premutation and Full-Mutation Carriers in Israel per Hagit Toledano‐Alhadef, Lina Basel‐Vanagaite, Nurit Magal, Bella Davidov, Sophie Ehrlich, Valerie Drasinover, Ellen Taub, Gabrielle J. Halpern, Nathan Ginott, Mordechai Shohat

    Publicat 2001
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  6. 6
    Cut‐off value of nuchal translucency as indication for chromosomal microarray analysis

    Cut‐off value of nuchal translucency as indication for chromosomal microarray analysis per Idit Maya, Shiri Yacobson, Sarit Kahana, Josepha Yeshaya, Tamar Tenne, Ifat Agmon-Fishman, Lital Cohen-Vig, M Shohat, Lina Basel‐Vanagaite, Reuven Sharony

    Publicat 2017
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  7. 7
    A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly

    A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly per Ganeshwaran H. Mochida, Muhammad Mahajnah, Anthony D. Hill, Lina Basel‐Vanagaite, Danielle Gleason, Robert Hill, Adria Bodell, Moira Crosier, Rachel Straussberg, Christopher A. Walsh

    Publicat 2009
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  8. 8
    An Autosomal Recessive Form of Bilateral Frontoparietal Polymicrogyria Maps to Chromosome 16q12.2-21

    An Autosomal Recessive Form of Bilateral Frontoparietal Polymicrogyria Maps to Chromosome 16q12.2-21 per Xianhua Piao, Lina Basel‐Vanagaite, Rachel Straussberg, P. Ellen Grant, Elizabeth Pugh, Kim Doheny, Betty Doan, Susan E. Hong, Yin Yao Shugart, Christopher A. Walsh

    Publicat 2002
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  9. 9
    Chromosomal microarray analysis in fetuses with aberrant right subclavian artery

    Chromosomal microarray analysis in fetuses with aberrant right subclavian artery per Idit Maya, Sarit Kahana, Josepha Yeshaya, Tamar Tenne, Shiri Yacobson, Ifat Agmon-Fishman, Lital Cohen-Vig, Anat Levi, Eyal Reinstein, Lina Basel‐Vanagaite, Reuven Sharony

    Publicat 2016
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  10. 10
    A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis

    A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis per Pola Smirin‐Yosef, Nehama Zuckerman‐Levin, Shay Tzur, Yaron Granot, Lior Cohen, Juliane Sachsenweger, Guntram Borck, Irina Lagovsky, Mali Salmon‐Divon, Lisa Wiesmüller, Lina Basel‐Vanagaite

    Publicat 2016
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  11. 11
    Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K+ Channel Encoded by KCNJ6

    Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K+ Channel Encoded by KCNJ6 per Andrea Masotti, Paolo Uva, Laura Davis‐Keppen, Lina Basel‐Vanagaite, Lior Cohen, Elisa Pisaneschi, Antonella Celluzzi, Paola Bencivenga, Mingyan Fang, Mingyu Tian, Xun Xu, Marco Cappa, Bruno Dallapiccola

    Publicat 2015
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  12. 12
    Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase

    Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase per Lina Basel‐Vanagaite, Revital Attia, Akemi Ishida‐Yamamoto, Limor Rainshtein, Dan Ben Amitai, Raziel Lurie, Metsada Pasmanik‐Chor, Margarita Indelman, Alex Zvulunov, Shirley Saban, Nurit Magal, Eli Sprecher, Mordechai Shohat

    Publicat 2007
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  13. 13
    De novo<i>SCN1A</i>mutations are a major cause of severe myoclonic epilepsy of infancy

    De novo<i>SCN1A</i>mutations are a major cause of severe myoclonic epilepsy of infancy per Lieve Claes, Berten Ceulemans, Dominique Audenaert, Katrien Smets, Ann Löfgren, Jurgen Del‐Favero, Sirpa Ala‐Mello, Lina Basel‐Vanagaite, Barbara Plecko, Salmo Raskin, Paul Thiry, Nicole I. Wolf, Christine Van Broeckhoven, Peter De Jonghe

    Publicat 2003
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  14. 14
    Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene

    Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene per Yu Sun, Rowida Almomani, Emmelien Aten, Jacopo Celli, Jaap van der Heijden, Hanka Venselaar, Stephen P. Robertson, Anna Baroncini, Brunella Franco, Lina Basel‐Vanagaite, Emiko Horii, Ricardo Drut, Yavuz Ariyürek, Johan T. den Dunnen, Martijn H. Breuning

    Publicat 2010
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  15. 15
    Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype

    Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype per Meena Balasubramanian, Kath Smith, Lina Basel‐Vanagaite, Murray Feingold, Pamela Brock, Gordon C. Gowans, Pradeep Vasudevan, Lara Cresswell, Emma‐Jane Taylor, Civonnia Harris, Neil Friedman, Rocio Moran, Holly Feret, Elaine H. Zackai, Aaron Theisen, Jill A. Rosenfeld, Michael Parker

    Publicat 2011
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  16. 16
    Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

    Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II per M M Hermans, Dik van Leenen, Marian A. Kroos, Clare Beesley, Ans T. van der Ploeg, Hitoshi Sakuraba, Ron A. Wevers, Wim Kleijer, Helen Michelakakis, Edwin P. Kirk, Janice M. Fletcher, N. U. Bosshard, Lina Basel‐Vanagaite, G. T. N. Besley, Arnold Reuser

    Publicat 2003
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  17. 17
    Ethnically diverse causes of Walker-Warburg syndrome (WWS):<i>FCMD</i>mutations are a more common cause of WWS outside of the Middle East

    Ethnically diverse causes of Walker-Warburg syndrome (WWS):<i>FCMD</i>mutations are a more common cause of WWS outside of the Middle East per M. Chiara Manzini, Danielle Gleason, Bernard S. Chang, Robert Hill, Brenda J. Barry, Jennifer N. Partlow, Annapurna Poduri, Sophie Currier, Patricia Galvin‐Parton, Lawrence R. Shapiro, Karen Schmidt, Jessica G. Davis, Lina Basel‐Vanagaite, Mohamed Z. Seidahmed, Mustafa A. Salih, William B. Dobyns, Christopher A. Walsh

    Publicat 2008
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  18. 18
    Transient Infantile Hypertriglyceridemia, Fatty Liver, and Hepatic Fibrosis Caused by Mutated GPD1, Encoding Glycerol-3-Phosphate Dehydrogenase 1

    Transient Infantile Hypertriglyceridemia, Fatty Liver, and Hepatic Fibrosis Caused by Mutated GPD1, Encoding Glycerol-3-Phosphate Dehydrogenase 1 per Lina Basel‐Vanagaite, Noam Zevit, Adi Har Zahav, Liang Guo, Saj Parathath, Metsada Pasmanik‐Chor, Adam D. McIntyre, Jian Wang, Adi Albin‐Kaplanski, Corina Hartman, Daphna Marom, Avraham Zeharia, Abir Badir, Oded Shoerman, Amos J. Simon, Gideon Rechavi, Mordechai Shohat, Robert A. Hegele, Edward A. Fisher, Raanan Shamir

    Publicat 2012
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  19. 19
    Biallelic SZT2 Mutations Cause Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum

    Biallelic SZT2 Mutations Cause Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum per Lina Basel‐Vanagaite, Tova Hershkovitz, Eli Heyman, Miquel Raspall‐Chaure, Naseebullah Kakar, Pola Smirin‐Yosef, Marta Vila‐Pueyo, Liora Kornreich, Hölger Thiele, Harald Bode, Irina Lagovsky, Dvir Dahary, Ami Haviv, Monika Weisz Hubshman, Metsada Pasmanik‐Chor, Peter Nürnberg, Doron Gothelf, Christian Kubisch, Mordechai Shohat, Alfons Macaya, Guntram Borck

    Publicat 2013
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  20. 20
    RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis: MACS Syndrome

    RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis: MACS Syndrome per Lina Basel‐Vanagaite, Ofer Sarig, Dov Hershkovitz, Dana Fuchs‐Telem, Debora Rapaport, Andrea Gat, Gila Isman, Idit Shirazi, Mordechai Shohat, Claes D. Enk, Efrat Birk, Jürgen Kohlhase, Uta Matysiak‐Scholze, Idit Maya, Carlos Knopf, Anette Peffekoven, Hans-Christian Hennies, Richard N. Bergman, Mia Horowitz, Akemi Ishida‐Yamamoto, Eli Sprecher

    Publicat 2009
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