نتائج البحث - Lorraine Potocki

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  1. 1
    Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome

    Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome حسب Lorraine Potocki

    منشور في 2000
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    Artigo
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  2. 2
    Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith–Magenis and Potocki–Lupski Syndromes

    Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith–Magenis and Potocki–Lupski Syndromes حسب Juanita Neira‐Fresneda, Lorraine Potocki

    منشور في 2015
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    Revisão
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  3. 3
    A Systematic Analysis of Human Disease-Associated Gene Sequences In <i>Drosophila melanogaster</i>

    A Systematic Analysis of Human Disease-Associated Gene Sequences In <i>Drosophila melanogaster</i> حسب Lawrence T. Reiter, Lorraine Potocki, S.-H. Chien, Michael Gribskov, Ethan Bier

    منشور في 2001
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  4. 4
    Enhancing exposure to genetics and genomics through an innovative medical school curriculum

    Enhancing exposure to genetics and genomics through an innovative medical school curriculum حسب Shweta U. Dhar, Raye Lynn Alford, Elizabeth A. Nelson, Lorraine Potocki

    منشور في 2012
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  5. 5
    Haploinsufficiency of ALX4 as a Potential Cause of Parietal Foramina in the 11p11.2 Contiguous Gene–Deletion Syndrome

    Haploinsufficiency of ALX4 as a Potential Cause of Parietal Foramina in the 11p11.2 Contiguous Gene–Deletion Syndrome حسب Yuanqing Wu, José L. Badano, Christopher McCaskill, Hannes Vogel, Lorraine Potocki, Lisa G. Shaffer

    منشور في 2000
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  6. 6
    Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation

    Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation حسب M. Mendiratta, Yaping Yang, Andrea Balázs, Alecia Willis, Christine M. Eng, Lefkothea Karaviti, Lorraine Potocki

    منشور في 2011
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  7. 7
    Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse

    Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse حسب Weimin Bi, Jiong Yan, Paweł Stankiewicz, Sung Sup Park, Katherina Walz, Cornelius F. Boerkoel, Lorraine Potocki, Lisa G. Shaffer, Koenraad Devriendt, Małgorzata J.M. Nowaczyk, Ken Inoue, James R. Lupski

    منشور في 2002
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  8. 8
    Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS

    Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS حسب Feng Zhang, Lorraine Potocki, Jacinda B. Sampson, Pengfei Liu, Amarilis Sanchez‐Valle, Patricia Robbins‐Furman, A Delicado Navarro, Patricia G. Wheeler, J. Edward Spence, Campbell K. Brasington, Marjorie Withers, James R. Lupski

    منشور في 2010
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  9. 9
    Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism

    Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism حسب Christian P. Schaaf, Manuel L. Gonzalez‐Garay, Fan Xia, Lorraine Potocki, Karen W. Gripp, Baili Zhang, Brock A. Peters, Mark A. McElwain, Radoje Drmanac, Arthur L. Beaudet, C. Thomas Caskey, Yaping Yang

    منشور في 2013
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  10. 10
    Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

    Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome حسب Marjolein H. Willemsen, Bridget A. Fernandez, Carlos A. Bacino, Erica H. Gerkes, Arjan PM de Brouwer, Rolph Pfundt, Birgit Sikkema‐Raddatz, Stephen W. Scherer, Christian R. Marshall, Lorraine Potocki, Hans van Bokhoven, Tjitske Kleefstra

    منشور في 2009
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  11. 11
    Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome

    Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome حسب Nikki Liburd, Manju Ghosh, Saima Riazuddin, Sadaf Naz, Shaheen Khan, Zubair M. Ahmed, Sheikh Riazuddin, Yong Liang, P.S.N. Menon, Tenesha N. Smith, Ann C. M. Smith, Ken‐Shiung Chen, James R. Lupski, Edward R. Wilcox, Lorraine Potocki, Thomas B. Friedman

    منشور في 2001
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  12. 12
    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? حسب 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

    منشور في 2010
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  13. 13
    Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype

    Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype حسب Lorraine Potocki, Weimin Bi, Diane Treadwell‐Deering, Claudia M.B. Carvalho, Anna Eifert, Ellen M. Friedman, Daniel G. Glaze, Kevin R. Krull, Jennifer A. Lee, Richard A. Lewis, Roberto Mendoza‐Londono, Patricia Robbins‐Furman, Chad A. Shaw, Xin Shi, George Weissenberger, Marjorie Withers, Svetlana A. Yatsenko, Elaine H. Zackai, Paweł Stankiewicz, James R. Lupski

    منشور في 2007
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  14. 14
    Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

    Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders حسب Shay Ben‐Shachar, Brendan C. Lanpher, Jennifer R. German, Mohammad M. Qasaymeh, Lorraine Potocki, Sandesh C. Sreenath Nagamani, Luis M. Franco, Amy D. Malphrus, G W Bottenfield, J. Edward Spence, Stephen Amato, Justine Rousseau, Billur Moghaddam, Cindy Skinner, Steven A. Skinner, Saunder Bernes, Nicole L. Armstrong, Marwan Shinawi, Paweł Stankiewicz, Ankita Patel, SW Cheung, James R. Lupski, Arthur L. Beaudet, Trilochan Sahoo

    منشور في 2009
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  15. 15
    Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

    Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities حسب 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

    منشور في 2012
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  16. 16
    The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing

    The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing حسب Shenglan Li, Sen Zhao, Jefferson C. Sinson, Aleksandar Bajić, Jill A. Rosenfeld, Matthew B. Neeley, Mezthly Pena, Kim C. Worley, Lindsay C. Burrage, Monika Weisz-Hubshman, Shamika Ketkar, William J. Craigen, Gary Clark, Seema R. Lalani, Carlos A. Bacino, Keren Machol, Hsiao‐Tuan Chao, Lorraine Potocki, Lisa Emrick, Jennifer L. Sheppard, M. Nguyen, Anahita Khoramnia, Paula Patricia Hernandez, Sandesh CS. Nagamani, Zhandong Liu, Christine M. Eng, Brendan Lee, Pengfei Liu

    منشور في 2024
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    Artigo
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  17. 17
    20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits

    20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits حسب Seema R. Lalani, Joseph V. Thakuria, Gerald F. Cox, X. Wang, Weimin Bi, Molly S. Bray, Chad A. Shaw, Sau Wai Cheung, A. Craig Chinault, Barbara A. Boggs, Zhishuo Ou, Ellen K. Brundage, James R. Lupski, Jennifer Gentile, Susan E. Waisbren, Amber N. Pursley, Ling Ma, Mehrdad Khajavi, Gladys Zapata, Richard A. Friedman, J J Kim, Jeffrey A. Towbin, Paweł Stankiewicz, Susanne Schnittger, I. Hansmann, Tomohiko Ai, Subeena Sood, Xander H.T. Wehrens, James F. Martin, John W. Belmont, Lorraine Potocki

    منشور في 2008
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  18. 18
    Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

    Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer حسب Kezhi Yan, Justine Rousseau, Keren Machol, Laura Cross, Katherine Agre, Cynthia Forster Gibson, Anne Goverde, Kendra Engleman, Hannah Verdin, Elfride De Baere, Lorraine Potocki, Dihong Zhou, Maxime Cadieux‐Dion, Gary A. Bellus, Monisa Wagner, Rebecca J. Hale, Natacha Esber, Alan Riley, Benjamin D. Solomon, Megan T. Cho, Kirsty McWalter, Roy Eyal, Meagan K. Hainlen, Bryce A. Mendelsohn, Hillary M. Porter, Brendan C. Lanpher, Andrea M. Lewis, Juliann M. Savatt, Isabelle Thiffault, Bert Callewaert, Philippe M. Campeau, Xiang‐Jiao Yang

    منشور في 2020
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    Artigo
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  19. 19
    The phenotype of recurrent 10q22q23 deletions and duplications

    The phenotype of recurrent 10q22q23 deletions and duplications حسب Bregje W.M. van Bon, Jorune Balciuniene, Gary Fruhman, Sandesh C. Sreenath Nagamani, Diane L. Broome, Elizabeth Cameron, Danielle Martinet, Eliane Roulet, Sébastien Jacquemont, J. Beckmann, Mira Irons, Lorraine Potocki, Brendan Lee, Sau Wai Cheung, Ankita Patel, Melissa Bellini, Angelo Selicorni, Roberto Ciccone, Margherita Silengo, Annalisa Vetro, Nine V.A.M. Knoers, Nicole de Leeuw, Rolph Pfundt, Barry Wolf, Petr Jira, Swaroop Aradhya, Paweł Stankiewicz, Han G. Brunner, Orsetta Zuffardi, Scott B. Selleck, James R. Lupski, Bert B.A. de Vries

    منشور في 2011
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  20. 20
    Detection of clinically relevant exonic copy-number changes by array CGH

    Detection of clinically relevant exonic copy-number changes by array CGH حسب 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

    منشور في 2010
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