Resultados de procura - Sat Dev Batish

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  1. 1
    Spectrum of sequence variations in the <i>FANCA</i> gene: An International Fanconi Anemia Registry (IFAR) study

    Spectrum of sequence variations in the <i>FANCA</i> gene: An International Fanconi Anemia Registry (IFAR) study por Orna Levran, Raffaella Diotti, Kanan Pujara, Sat Dev Batish, Helmut Hanenberg, Arleen D. Auerbach

    Publicado 2005
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  2. 2
    Phenotypic Consequences of Mutations in the Fanconi Anemia FAC Gene: An International Fanconi Anemia Registry Study

    Phenotypic Consequences of Mutations in the Fanconi Anemia FAC Gene: An International Fanconi Anemia Registry Study por Alfred P. Gillio, Peter C. Verlander, Sat Dev Batish, Philip F. Giampietro, Arleen D. Auerbach

    Publicado 1997
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  3. 3
    The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

    The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans por Feng Zhang, Mehrdad Khajavi, Anne M. Connolly, Charles F. Towne, Sat Dev Batish, James R. Lupski

    Publicado 2009
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  4. 4
    Sequence variation in the Fanconi anemia gene <i>FAA</i>

    Sequence variation in the Fanconi anemia gene <i>FAA</i> por Orna Levran, Tamar Erlich, Neiva Magdalena, John Gregory, Sat Dev Batish, Peter C. Verlander, Arleen D. Auerbach

    Publicado 1997
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  5. 5
    Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia

    Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia por Philip M. Boone, Pengfei Liu, Feng Zhang, Cláudia Carvalho, Charles F. Towne, Sat Dev Batish, James R. Lupski

    Publicado 2011
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  6. 6
    A 20-year perspective on the International Fanconi Anemia Registry (IFAR)

    A 20-year perspective on the International Fanconi Anemia Registry (IFAR) por David I. Kutler, Bhuvanesh Singh, Jaya M. Satagopan, Sat Dev Batish, Marianne Berwick, Philip F. Giampietro, Helmut Hanenberg, Arleen D. Auerbach

    Publicado 2003
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  7. 7
    Somatic mosaicism in Fanconi anemia: Evidence of genotypic reversion in lymphohematopoietic stem cells

    Somatic mosaicism in Fanconi anemia: Evidence of genotypic reversion in lymphohematopoietic stem cells por John Gregory, John E. Wagner, Peter C. Verlander, Orna Levran, Sat Dev Batish, Cindy Eide, Amy Steffenhagen, Betsy Hirsch, Arleen D. Auerbach

    Publicado 2001
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  8. 8
    Characteristics of maturity onset diabetes of the young in a large diabetes center

    Characteristics of maturity onset diabetes of the young in a large diabetes center por Christina Chambers, Alexandra Fouts, Fran Dong, Kevin Colclough, Zhenyuan Wang, Sat Dev Batish, Malgorzata Jaremko, Sian Ellard, Andrew T. Hattersley, Georgeanna J. Klingensmith, Andrea K. Steck

    Publicado 2015
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  9. 9
    Spectrum of sequence variation in the FANCG gene: An International Fanconi Anemia Registry (IFAR) study

    Spectrum of sequence variation in the FANCG gene: An International Fanconi Anemia Registry (IFAR) study por Arleen D. Auerbach, Jason Greenbaum, Kanan Pujara, Sat Dev Batish, Marco A. Bitencourt, Indira Kokemohr, Hildegard Schneider, Stephan Lobitz, Ricardo Pasqüini, Philip F. Giampietro, Helmut Hanenberg, Orna Levran

    Publicado 2003
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  10. 10
    Spectrum of sequence variation in theFANCG gene: An International Fanconi Anemia Registry (IFAR) study

    Spectrum of sequence variation in theFANCG gene: An International Fanconi Anemia Registry (IFAR) study por Arleen D. Auerbach, Jason Greenbaum, Kanan Pujara, Sat Dev Batish, Marco A. Bitencourt, Indira Kokemohr, Hildegard Schneider, Stephan Lobitzc, Ricardo Pasqüini, Philip F. Giampietro, Helmut Hanenberg, Orna Levran

    Publicado 2003
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  11. 11
    A Rapid Method for Retrovirus-Mediated Identification of Complementation Groups in Fanconi Anemia Patients

    A Rapid Method for Retrovirus-Mediated Identification of Complementation Groups in Fanconi Anemia Patients por Saurabh Chandra, Orna Levran, Ingrid Jurickova, Chiel Maas, Rick Kapur, Detlev Schindler, Rashida Henry, Kelly Milton, Sat Dev Batish, José A. Cancelas, Helmut Hanenberg, Arleen D. Auerbach, David A. Williams

    Publicado 2005
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  12. 12
    Phenotypic correction of primary Fanconi anemia T cells with retroviral vectors as a diagnostic tool

    Phenotypic correction of primary Fanconi anemia T cells with retroviral vectors as a diagnostic tool por Helmut Hanenberg, Sat Dev Batish, Karen E. Pollok, Lydia Vieten, Peter C. Verlander, Cordula Leurs, Ryan Cooper, Kerstin Göttsche, Laura S. Haneline, D. Wade Clapp, Stephan Lobitz, David A. Williams, Arleen D. Auerbach

    Publicado 2002
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  13. 13
    Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease

    Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease por Miguel A. García-González, Jeffrey G. Jones, Susan K. Allen, Christopher M. Palatucci, Sat Dev Batish, William Seltzer, Lan Zheng, Erica Allen, Feng Qian, Xosé M. Lens, York Pei, Gregory G. Germino, Terry Watnick

    Publicado 2007
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  14. 14
    The allelic spectrum of Charcot–Marie–Tooth disease in over 17,000 individuals with neuropathy

    The allelic spectrum of Charcot–Marie–Tooth disease in over 17,000 individuals with neuropathy por Christina DiVincenzo, Christopher Elzinga, Adam C. Medeiros, Izabela Karbassi, Jeremiah Jones, Matthew C. Evans, Corey Braastad, Crystal M. Bishop, Malgorzata Jaremko, Zhenyuan Wang, Khalida Liaquat, Carol Hoffman, Michelle York, Sat Dev Batish, James R. Lupski, Joseph Higgins

    Publicado 2014
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  15. 15
    Shared Genetic Susceptibility to Breast Cancer, Brain Tumors, and Fanconi Anemia

    Shared Genetic Susceptibility to Breast Cancer, Brain Tumors, and Fanconi Anemia por Kenneth Offit, Orna Levran, Brendan Mullaney, Kandice Mah, Khédoudja Nafa, Sat Dev Batish, Roberta A. Diotti, H. Schneider, Amie M. Deffenbaugh, Thomas Scholl, V. Proud, Mark E. Robson, Larry Norton, Nathan A. Ellis, Helmut Hanenberg, Arleen D. Auerbach

    Publicado 2003
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  16. 16
    Genetic Heterogeneity among Fanconi Anemia Heterozygotes and Risk of Cancer

    Genetic Heterogeneity among Fanconi Anemia Heterozygotes and Risk of Cancer por Marianne Berwick, Jaya M. Satagopan, Leah Ben‐Porat, Ann D. Carlson, Katherine Mah, Rashida Henry, Raffaella Diotti, Kelly Milton, Kanan Pujara, Tom Landers, Sat Dev Batish, J. Alejandro Morales, Detlev Schindler, Helmut Hanenberg, Robert Hromas, Orna Levran, Arleen D. Auerbach

    Publicado 2007
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  17. 17
    Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4

    Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4 por Garth A. Nicholson, Guy M. Lenk, Stephen W. Reddel, Adrienne E. Grant, Charles F. Towne, Cole Ferguson, Ericka Simpson, Angela E. Scheuerle, Michelle Yasick, Stuart N. Hoffman, Randall Blouin, Carla Brandt, Giovanni Coppola, Leslie G. Biesecker, Sat Dev Batish, Miriam H. Meisler

    Publicado 2011
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  18. 18
    Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability

    Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability por Feng Zhang, Pavel Seeman, Pengfei Liu, Marian A. J. Weterman, Claudia Gonzaga‐Jauregui, Charles F. Towne, Sat Dev Batish, Els De Vriendt, Peter De Jonghe, Bernd Rautenstrauß, Klaus-Henning Krause, Mehrdad Khajavi, Jan Posadka, Antoon Vandenberghe, Francesc Palau, Lionel Van Maldergem, Frank Baas, Vincent Timmerman, James R. Lupski

    Publicado 2010
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  19. 19
    Novel THAP1 sequence variants in primary dystonia

    Novel THAP1 sequence variants in primary dystonia por Jianfeng Xiao, Yu Zhao, R.W. Bastian, Joel S. Perlmutter, Brad A. Racette, Samer D. Tabbal, Morvarid Karimi, Randal C. Paniello, Zbigniew K. Wszołek, Ryan J. Uitti, Jay A. van Gerpen, David K. Simon, Daniel Tarsy, Peter Hedera, Daniel Truong, Karen Frei, Sat Dev Batish, Andrew Blitzer, Ronald F. Pfeiffer, Shusheng Gong, Mark S. LeDoux

    Publicado 2010
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  20. 20
    The spectrum of SCN1A-related infantile epileptic encephalopathies

    The spectrum of SCN1A-related infantile epileptic encephalopathies por Louise A. Harkin, Jacinta M. McMahon, Xenia Iona, Leanne M. Dibbens, James T. Pelekanos, Sameer M. Zuberi, Lynette G. Sadleir, Eva Andermann, Deepak Gill, K Farrell, Mary Connolly, Thorsten Stanley, Michael Harbord, Frédérick Andermann, Jing Wang, Sat Dev Batish, Jeffrey G. Jones, William Seltzer, Alison Gardner, Grant Sutherland, Samuel F. Berkovic, John C. Mulley, Ingrid E. Scheffer

    Publicado 2007
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