Výsledky vyhledávání - Sung-Hae L. Kang

  • Zobrazuji výsledky 1 - 19 z 19
Upřesnit hledání
  1. 1
    Inhibition of SIRT1 Reactivates Silenced Cancer Genes without Loss of Promoter DNA Hypermethylation

    Inhibition of SIRT1 Reactivates Silenced Cancer Genes without Loss of Promoter DNA Hypermethylation Autor Kevin Pruitt, Rebekah L. Zinn, Joyce E. Ohm, Kelly M. McGarvey, Sung-Hae L. Kang, D. Neil Watkins, James G. Herman, Stephen B. Baylin

    Vydáno 2006
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  2. 2
    Genomic Imbalances in Neonates With Birth Defects: High Detection Rates by Using Chromosomal Microarray Analysis

    Genomic Imbalances in Neonates With Birth Defects: High Detection Rates by Using Chromosomal Microarray Analysis Autor Xin-Yan Lu, My Thao Phung, Chad A. Shaw, Kim Pham, Sarah Neil‐Sztramko, Ankita Patel, Trilochan Sahoo, Carlos A. Bacino, Paweł Stankiewicz, Sung-Hae L. Kang, Seema R. Lalani, A. Craig Chinault, James R. Lupski, Sau Wai Cheung, Arthur L. Beaudet

    Vydáno 2008
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  3. 3
    Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

    Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? Autor Przemysław Szafrański, Christian P. Schaaf, Richard Person, Ian B. Gibson, Zhilian Xia, Sangeetha Mahadevan, Joanna Wiszniewska, Carlos A. Bacino, Seema R. Lalani, Lorraine Potocki, Sung-Hae L. Kang, Ankita Patel, Sau Wai Cheung, Frank J. Probst, Brett H. Graham, Marwan Shinawi, Arthur L. Beaudet, Paweł Stankiewicz

    Vydáno 2010
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  4. 4
    Phenotypic manifestations of copy number variation in chromosome 16p13.11

    Phenotypic manifestations of copy number variation in chromosome 16p13.11 Autor Sandesh C. Sreenath Nagamani, Ayelet Erez, Patricia I. Bader, Seema R. Lalani, Daryl A. Scott, Fernando Scaglia, Sharon E. Plon, Chun-Hui Tsai, Tyler Reimschisel, Elizabeth Roeder, Amy D. Malphrus, Patricia A. Eng, Patricia Hixson, Sung-Hae L. Kang, Paweł Stankiewicz, Ankita Patel, Sau Wai Cheung

    Vydáno 2010
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  5. 5
    Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization

    Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization Autor Trilochan Sahoo, Sau Wai Cheung, Patricia A. Ward, Sandra Darilek, Ankita Patel, Daniela del Gaudio, Sung Hae L. Kang, Seema R. Lalani, Jiangzhen Li, Sallie McAdoo, Audrey Burke, Chad A. Shaw, Paweł Stankiewicz, A. Craig Chinault, Ignatia B. Van den Veyver, Benjamin B. Roa, Arthur L. Beaudet, Christine M. Eng

    Vydáno 2006
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  6. 6
    Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

    Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders Autor Patrícia B. S. Celestino-Soper, Cindy Skinner, Richard J. Schroer, Patricia A. Eng, Jayant Shenai, Małgorzata M.J. Nowaczyk, Deborah Terespolsky, Donna Cushing, Gayle Patel, LaDonna Immken, Alecia Willis, Joanna Wiszniewska, Reuben Matalon, Jill A. Rosenfeld, Roger E. Stevenson, Sung-Hae L. Kang, Sau Wai Cheung, Arthur L. Beaudet, Paweł Stankiewicz

    Vydáno 2012
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  7. 7
    Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27

    Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27 Autor Sirisha Peddibhotla, Sandesh C.S. Nagamani, Ayelet Erez, Jill V. Hunter, J. Lloyd Holder, Mary E. Carlin, Patricia I. Bader, Helene MF Perras, Judith Allanson, Leslie C. Newman, Gayle Simpson, LaDonna Immken, Erin Powell, Aaron Mohanty, Sung-Hae L. Kang, Paweł Stankiewicz, Carlos A. Bacino, Weimin Bi, Ankita Patel, Sau Wai Cheung

    Vydáno 2014
    Získat plný text Získat plný text
    Revisão
    Přidat do oblíbených
    Uloženo v:
  8. 8
    Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

    Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region Autor Jonathan S. Berg, Nicola Brunetti‐Pierri, Sarika U. Peters, Sung-Hae L. Kang, Chin-To Fong, Jessica Salamone, Debra Freedenberg, Vickie Hannig, Lisa Albers Prock, David T. Miller, Peter Raffalli, D. James Harris, Robert P. Erickson, Christopher Cunniff, Gary Clark, Maria Blazo, Daniel A. Peiffer, Kevin L. Gunderson, Trilochan Sahoo, Ankita Patel, James R. Lupski, Arthur L. Beaudet, Sau Wai Cheung

    Vydáno 2007
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  9. 9
    Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes

    Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes Autor Zhishuo Ou, Paweł Stankiewicz, Zhilian Xia, Amy M. Breman, Brian Dawson, Joanna Wiszniewska, Przemysław Szafrański, M. Lance Cooper, Mitchell Rao, Lina Shao, Sarah T. South, Karlene Coleman, Paul M. Fernhoff, Marcel J. Deray, Sally Rosengren, Elizabeth Roeder, Victoria B. Enciso, A. Craig Chinault, Ankita Patel, Sung-Hae L. Kang, Chad A. Shaw, James R. Lupski, Sau Wai Cheung

    Vydáno 2011
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  10. 10
    Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions

    Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions Autor Christian P. Schaaf, Philip M. Boone, Srirangan Sampath, Charles A. Williams, Patricia I. Bader, Jennifer M. Mueller, Oleg A. Shchelochkov, Chester Brown, Heather P. Crawford, James A. Phalen, Nicole Tartaglia, Patricia Evans, William M. Campbell, Anne Chun‐Hui Tsai, Lea Parsley, Stephanie W Grayson, Angela E. Scheuerle, Carol D Luzzi, Sandra K Thomas, Patricia A. Eng, Sung-Hae L. Kang, Ankita Patel, Paweł Stankiewicz, Sau Wai Cheung

    Vydáno 2012
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  11. 11
    Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

    Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities Autor Seema R. Lalani, Chad A. Shaw, Xueqing Wang, Ankita Patel, Lance W Patterson, Katarzyna Kołodziejska, Przemysław Szafrański, Zhishuo Ou, Qi Tian, Sung-Hae L. Kang, Amina Jinnah, Sophia Ali, A. H. Malik, Patricia Hixson, Lorraine Potocki, James R. Lupski, Paweł Stankiewicz, Carlos A. Bacino, Brian Dawson, Arthur L. Beaudet, Fatima Boricha, Runako Whittaker, Chumei Li, Stephanie M. Ware, Sau Wai Cheung, Daniel J. Penny, John L. Jefferies, John W. Belmont

    Vydáno 2012
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  12. 12
    NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits

    NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits Autor Piotr Dittwald, Tomasz Gambin, Przemysław Szafrański, Jian Li, Stephen Amato, Michael Y. Divon, Lisa Rojas, Lindsay Elton, Daryl A. Scott, Christian P. Schaaf, Wilfredo Torres‐Martinez, Abby Stevens, Jill A. Rosenfeld, Satish Agadi, David Francis, Sung-Hae L. Kang, Amy M. Breman, Seema R. Lalani, Carlos A. Bacino, Weimin Bi, Aleksandar Milosavljevic, Arthur L. Beaudet, Ankita Patel, Chad A. Shaw, James R. Lupski, Anna Gambin, Sau Wai Cheung, Paweł Stankiewicz

    Vydáno 2013
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  13. 13
    Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

    Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders Autor Ian M. Campbell, Bo Yuan, Caroline Robberecht, Rolph Pfundt, Przemysław Szafrański, Meriel McEntagart, Sandesh C.S. Nagamani, Ayelet Erez, Magdalena Bartnik, Barbara Wiśniowiecka‐Kowalnik, Katie Plunkett, Amber N. Pursley, Sung-Hae L. Kang, Weimin Bi, Seema R. Lalani, Carlos A. Bacino, Mala Vast, Karen Marks, Michael A. Patton, Peter Olofsson, Ankita Patel, Joris A. Veltman, S.W. Cheung, Chad A. Shaw, Lisenka E.L.M. Vissers, Joris Vermeesch, James R. Lupski, Paweł Stankiewicz

    Vydáno 2014
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  14. 14
    Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

    Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size Autor Marwan Shinawi, P. Liu, Sung Hae L. Kang, Joseph Shen, John W. Belmont, Daryl A. Scott, Frank J. Probst, W. J. Craigen, Brett H. Graham, Amber N. Pursley, G Clark, Jinyoung Lee, Monica B. Proud, A. Stocco, Diana L. Rodríguez, Beth A. Kozel, Steven Sparagana, Elizabeth Roeder, Susan G. McGrew, Thaddeus W. Kurczynski, Lesley Allison, Stephen Amato, Sarah Savage, Ankita Patel, Paweł Stankiewicz, Arthur L. Beaudet, S.W. Cheung, James R. Lupski

    Vydáno 2009
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  15. 15
    Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements

    Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements Autor Pengfei Liu, Ayelet Erez, Sandesh C. Sreenath Nagamani, Shweta U. Dhar, Katarzyna Kołodziejska, Avinash V. Dharmadhikari, M. Lance Cooper, Joanna Wiszniewska, Feng Zhang, Marjorie Withers, Carlos A. Bacino, Luis Daniel Campos-Acevedo, Mauricio R. Delgado, Debra Freedenberg, Adolfo D. Garnica, Theresa A. Grebe, Dolores Hernández-Almaguer, LaDonna Immken, Seema R. Lalani, Scott D. McLean, Hope Northrup, Fernando Scaglia, Lane Strathearn, Pamela Trapane, Sung-Hae L. Kang, Ankita Patel, Sau Wai Cheung, P. J. Hastings, Paweł Stankiewicz, James R. Lupski, Weimin Bi

    Vydáno 2011
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  16. 16
    Detection of clinically relevant exonic copy-number changes by array CGH

    Detection of clinically relevant exonic copy-number changes by array CGH Autor Philip M. Boone, Carlos A. Bacino, Chad A. Shaw, Patricia A. Eng, Patricia Hixson, Amber N. Pursley, Sung-Hae L. Kang, Yaping Yang, Joanna Wiszniewska, Beata Nowakowska, Daniela del Gaudio, Zhilian Xia, Gayle Simpson-Patel, LaDonna Immken, James B. Gibson, Anne Tsai, Jennifer A. Bowers, Tyler Reimschisel, Christian P. Schaaf, Lorraine Potocki, Fernando Scaglia, Tomasz Gambin, Maciej Sykulski, Magdalena Bartnik, Katarzyna Derwińska, Barbara Wiśniowiecka‐Kowalnik, Seema R. Lalani, Frank J. Probst, Weimin Bi, Arthur L. Beaudet, Ankita Patel, James R. Lupski, Sau Wai Cheung, Paweł Stankiewicz

    Vydáno 2010
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  17. 17
    Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

    Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities Autor Nicola Brunetti‐Pierri, Jonathan S. Berg, Fernando Scaglia, John W. Belmont, Carlos A. Bacino, Trilochan Sahoo, Seema R. Lalani, Brett H. Graham, Brendan Lee, Marwan Shinawi, Joseph Shen, Sung-Hae L. Kang, Amber N. Pursley, Timothy Lotze, Gail Kennedy, Susan Lansky-Shafer, Christine A. Weaver, Elizabeth Roeder, Theresa A. Grebe, Georgianne L. Arnold, Terry Hutchison, Tyler Reimschisel, Stephen Amato, Michael T Geragthy, Jeffrey W. Innis, Ewa Obersztyn, Beata Nowakowska, Sally Rosengren, Patricia I. Bader, Dorothy K. Grange, Sayed Naqvi, Adolfo D. Garnica, Saunder Bernes, Chin-To Fong, Anne Summers, William D. Walters, James R. Lupski, Paweł Stankiewicz, Sau Wai Cheung, Ankita Patel

    Vydáno 2008
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  18. 18
    Identification of novel candidate disease genes from de novo exonic copy number variants

    Identification of novel candidate disease genes from de novo exonic copy number variants Autor Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A. Rosenfeld, Zeynep Coban‐Akdemir, Amber N. Pursley, Sandesh C.S. Nagamani, Ronit Marom, Sailaja Golla, Lauren Dengle, Heather G. Petrie, Reuben Matalon, Lisa Emrick, Monica B. Proud, Diane Treadwell‐Deering, Hsiao-Tuan Chao, Hannele Koillinen, Chester Brown, Nora Urraca, Roya Mostafavi, Saunder Bernes, Elizabeth Roeder, Kimberly Nugent, Patricia I. Bader, Gary A. Bellus, Michael A. Cummings, Hope Northrup, Myla Ashfaq, Rachel Westman, Robert S. Wildin, Anita Beck, LaDonna Immken, Lindsay Elton, Shaun Varghese, Edward P. Buchanan, Laurence Faivre, Mathilde Lefebvre, Christian P. Schaaf, Magdalena Walkiewicz, Yaping Yang, Sung-Hae L. Kang, Seema R. Lalani, Carlos A. Bacino, Arthur L. Beaudet, Amy M. Breman, Janice Smith, Sau Wai Cheung, James R. Lupski, Ankita Patel, Chad A. Shaw, Paweł Stankiewicz

    Vydáno 2017
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  19. 19
    Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

    Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies Autor Michael D. Fountain, David S. Oleson, Megan Rech, Lara Segebrecht, Jill V. Hunter, John McCarthy, Philip J. Lupo, Manuel Holtgrewe, Rocio Moran, Jill A. Rosenfeld, Bertrand Isidor, Cédric Le Caignec, Margarita Sáenz, Robert C. Pedersen, Thomas M. Morgan, Jean P. Pfotenhauer, Fan Xia, Weimin Bi, Sung-Hae L. Kang, Ankita Patel, Ian D. Krantz, Sarah E. Raible, Wendy E. Smith, Ingrid Cristian, Erin Torti, Jane Juusola, Francisca Millan, Ingrid M. Wentzensen, Richard Person, Sébastien Küry, Stéphane Bézieau, Kévin Uguen, Claude Férec, Arnold Münnich, Mieke M. van Haelst, Klaske D. Lichtenbelt, Koen L.I. van Gassen, Tanner Hagelstrom, Aditi Chawla, Denise Perry, Ryan J. Taft, Marilyn C. Jones, Diane Masser‐Frye, David A. Dyment, Sunita Venkateswaran, Chumei Li, Luis Escobar, Denise Horn, Rebecca C. Spillmann, Loren D.M. Peña, Jolanta Wierzba, Tim M. Strom, Ilaria Parenti, Frank J. Kaiser, Nadja Ehmke, Christian P. Schaaf

    Vydáno 2019
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:

Vyhledávací nástroje: