Résultats de la recherche - Patricia I. Bader

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  1. 1
    7q11.23 Duplication syndrome: Physical characteristics and natural history

    7q11.23 Duplication syndrome: Physical characteristics and natural history par Colleen A. Morris, Carolyn Β. Mervis, Alex P. Paciorkowski, Omar Abdul‐Rahman, Sarah Dugan, Alan F. Rope, Patricia I. Bader, Laura G. Hendon, Shelley L. Velleman, Bonnie Klein-Tasman, Lucy R. Osborne

    Publié 2015
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  2. 2
    CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree

    CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree par Claudia Soler‐Alfonso, Claudia M.B. Carvalho, Jun Ge, Erin K. Roney, Patricia I. Bader, Katarzyna Kołodziejska, Rachel Miller, James R. Lupski, Paweł Stankiewicz, Sau Wai Cheung, Weimin Bi, Christian P. Schaaf

    Publié 2014
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  3. 3
    Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

    Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity par Ruxandra Bachmann‐Gagescu, Heather C. Mefford, Charles A. Cowan, Gwen M. Glew, Anne Hing, Stephanie E Wallace, Patricia I. Bader, Aline I. Hamati, Pamela J. Reitnauer, Rosemarie Smith, David W. Stockton, Hiltrud Muhle, Ingo Helbig, Evan E. Eichler, Blake C. Ballif, Jill A. Rosenfeld, Karen D. Tsuchiya

    Publié 2010
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  4. 4
    Phenotypic manifestations of copy number variation in chromosome 16p13.11

    Phenotypic manifestations of copy number variation in chromosome 16p13.11 par 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

    Publié 2010
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  5. 5
    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 par 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

    Publié 2014
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  6. 6
    22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH

    22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH par Shweta U. Dhar, Daniela del Gaudio, Jennifer R. German, Sarika U. Peters, Zhishu Ou, Patricia I. Bader, Jonathan S. Berg, Maria Blazo, Chester Brown, Brett H. Graham, Theresa A. Grebe, Seema R. Lalani, Mira Irons, Steven Sparagana, Melissa Williams, John A. Phillips, Arthur L. Beaudet, Paweł Stankiewicz, Ankita Patel, Sau Wai Cheung, Trilochan Sahoo

    Publié 2010
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  7. 7
    The complex behavioral phenotype of 15q13.3 microdeletion syndrome

    The complex behavioral phenotype of 15q13.3 microdeletion syndrome par Mark N. Ziats, Robin P. Goin‐Kochel, Leandra N. Berry, M. A. Ali, Jun Ge, Danielle Guffey, Jill A. Rosenfeld, Patricia I. Bader, Michael J. Gambello, Varina L. Wolf, Lynette S. Penney, Ryan Miller, Robert Roger Lebel, Jeffrey M. Kane, Kristine Bachman, Robin Troxell, Gary Clark, Charles G. Minard, Paweł Stankiewicz, Arthur L. Beaudet, Christian P. Schaaf

    Publié 2016
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  8. 8
    The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications

    The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications par Madelyn A. Gillentine, Leandra N. Berry, Robin P. Goin‐Kochel, M. A. Ali, Jun Ge, Danielle Guffey, Jill A. Rosenfeld, Vickie Hannig, Patricia I. Bader, Monica B. Proud, Marwan Shinawi, Brett H. Graham, Angela E. Lin, Seema R. Lalani, Joanna Reynolds, M. Chen, Theresa A. Grebe, Charles G. Minard, Paweł Stankiewicz, Arthur L. Beaudet, Christian P. Schaaf

    Publié 2016
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  9. 9
    Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions

    Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions par 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

    Publié 2012
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  10. 10
    A copy number variation morbidity map of developmental delay

    A copy number variation morbidity map of developmental delay par Gregory M. Cooper, Bradley P. Coe, Santhosh Girirajan, Jill A. Rosenfeld, Tiffany Vu, Carl Baker, Charles A. Williams, Heather Stalker, Rizwan Hamid, Vickie Hannig, Hoda Abdel‐Hamid, Patricia I. Bader, Elizabeth McCracken, Dmitriy Niyazov, Kathleen A. Leppig, Heidi Thiese, Marybeth Hummel, Nora Alexander, Jerome L. Gorski, Jennifer Kussmann, Vandana Shashi, Krys Johnson, Catherine Rehder, Blake C. Ballif, Lisa G. Shaffer, Evan E. Eichler

    Publié 2011
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  11. 11
    Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems

    Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems par Melissa B. Ramocki, Magdalena Bartnik, Przemysław Szafrański, Katarzyna Kołodziejska, Zhilian Xia, Jaclyn Bravo, G. Steve Miller, Diana L. Rodríguez, Charles A. Williams, Patricia I. Bader, Elżbieta Szczepanik, Tomasz Mazurczak, Dorota Antczak‐Marach, James G. Coldwell, Cigdem I. Akman, Karen McAlmon, Melinda Cohen, James McGrath, Elizabeth Roeder, Jennifer M. Mueller, Sung‐Hae Kang, Carlos A. Bacino, Ankita Patel, Ewa Bocian, Chad A. Shaw, Sau Wai Cheung, Tadeusz Mazurczak, Paweł Stankiewicz

    Publié 2010
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  12. 12
    Investigation of<i>NRXN1</i>deletions: Clinical and molecular characterization

    Investigation of<i>NRXN1</i>deletions: Clinical and molecular characterization par Mindy Preston Dabell, Jill A. Rosenfeld, Patricia I. Bader, Luis Escobar, Dima El‐Khechen, Stephanie E. Vallee, Mary Beth Dinulos, Cynthia J. Curry, Jamie Fisher, Raymond C. Tervo, Mark C. Hannibal, Kiana Siefkas, Philip Wyatt, Lauren S. Hughes, Rosemarie Smith, Sara Ellingwood, Yves Lacassie, Tracy Stroud, Sandra A. Farrell, Pedro A. Sanchez‐Lara, Linda M. Randolph, Dmitriy Niyazov, Cathy A. Stevens, Cheri Schoonveld, David Skidmore, Sara MacKay, Judith H. Miles, Manikum Moodley, Adam Huillet, Nicholas J. Neill, Jay W. Ellison, Blake C. Ballif, Lisa G. Shaffer

    Publié 2013
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  13. 13
    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 par 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

    Publié 2008
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  14. 14
    Haploinsufficiency of<i>SOX5</i>at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

    Haploinsufficiency of<i>SOX5</i>at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features par Allen N. Lamb, Jill A. Rosenfeld, Nicholas J. Neill, Michael E. Talkowski, Ian Blumenthal, Santhosh Girirajan, Debra Keelean-Fuller, Zheng Fan, Jill Pouncey, Cathy A. Stevens, Loren Mackay-Loder, Deborah Terespolsky, Patricia I. Bader, Kenneth N. Rosenbaum, Stephanie E. Vallee, John B. Moeschler, Roger L. Ladda, Susan L. Sell, Judith A. Martin, S. Noyce Ryan, Marilyn C. Jones, Rocio Moran, Amy Shealy, Suneeta Madan‐Khetarpal, Juliann McConnell, Urvashi Surti, Andrée Delahaye‐Duriez, Bénédicte Héron‐Longe, Eva Pipiras, Brigitte Benzacken, Sandrine Passemard, Alain Verloès, Bertrand Isidor, Cédric Le Caignec, Gwen M. Glew, Kent E. Opheim, Maria Descartes, Evan E. Eichler, Cynthia C. Morton, James F. Gusella, Roger A. Schultz, Blake C. Ballif, Lisa G. Shaffer

    Publié 2012
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  15. 15
    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 par 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

    Publié 2017
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  16. 16
    Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

    Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus par Gea Beunders, Els Voorhoeve, Christelle Golzio, Luba M. Pardo, Jill A. Rosenfeld, Michael E. Talkowski, Ingrid Simonic, Anath C. Lionel, Sarah Vergult, Robert E. Pyatt, Jiddeke van de Kamp, Aggie Nieuwint, Marjan M. Weiss, Patrizia Rizzu, Lucilla E.N.I. Verwer, Rosalina M.L. van Spaendonk, Yiping Shen, Bai-Lin Wu, Tingting Yu, Yongguo Yu, Colby Chiang, James F. Gusella, Amelia M. Lindgren, Cynthia C. Morton, Ellen van Binsbergen, Saskia Bulk, Els van Rossem, Olivier Vanakker, Ruth Armstrong, Soo-Mi Park, Lynn Greenhalgh, Una Maye, Nicholas J. Neill, Kristin M. Abbott, Susan L. Sell, Roger L. Ladda, Darren Farber, Patricia I. Bader, Tom Cushing, Joanne M. Drautz, Laura Konczal, Patricia Nash, Emily de los Reyes, Melissa T. Carter, Elizabeth Hopkins, Christian R. Marshall, Lucy R. Osborne, Karen W. Gripp, Devon Lamb Thrush, Sayaka Hashimoto, Julie M. Gastier‐Foster, Caroline Astbury, Bauke Ylstra, Hanne Meijers‐Heijboer, Daniëlle Posthuma, Björn Menten, Geert Mortier, Stephen W. Scherer, Evan E. Eichler, Santhosh Girirajan, Nicholas Katsanis, Alexander J. Groffen, Erik A. Sistermans

    Publié 2013
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  17. 17
    TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities

    TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities par Wojciech Wiszniewski, Jill V. Hunter, Neil A. Hanchard, Jason R. Willer, Chad A. Shaw, Qi Tian, Anna Illner, Xueqing Wang, Sau Wai Cheung, Ankita Patel, Ian M. Campbell, Violet Gelowani, Patricia Hixson, Audrey R. Ester, Mahshid S. Azamian, Lorraine Potocki, Gladys Zapata, Patricia Hernandez, Melissa B. Ramocki, Regie Lyn P. Santos‐Cortez, Gao Wang, Michele K. York, Monica J. Justice, Zili D. Chu, Patricia I. Bader, Lisa Omo-Griffith, Nirupama S. Madduri, Gunter Scharer, Heather P. Crawford, Pattamawadee Yanatatsaneejit, Anna Eifert, Jeffery Kerr, Carlos A. Bacino, Adiaha I.A. Franklin, Robin P. Goin‐Kochel, Gayle Simpson, LaDonna Immken, Muhammad Ehteshamul Haque, Marija Stosic, Misti Williams, Thomas M. Morgan, Sumit Pruthi, Reed A. Omary, Simeon A. Boyadjiev, Kay K. Win, Aye Thida, Matthew E. Hurles, Martin L. Hibberd, Chiea Chuen Khor, Nguyễn Văn Vĩnh Châu, Thomas E. Gallagher, Apiwat Mutirangura, Paweł Stankiewicz, Arthur L. Beaudet, Mirjana Maletić‐Savatić, Jill A. Rosenfeld, Lisa G. Shaffer, Erica E. Davis, John W. Belmont, Sarah J. Dunstan, Cameron P. Simmons, Penelope E. Bonnen, Suzanne M. Leal, Nicholas Katsanis, James R. Lupski, Seema R. Lalani

    Publié 2013
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  18. 18
    Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

    Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes par A. C. Lionel, Kristiina Tammimies, Andrea K. Vaags, Jill A. Rosenfeld, Joo Wook Ahn, Daniele Merico, Abdul Noor, Cassandra Runke, Vamsee Pillalamarri, M. T. Carter, Matthew J. Gazzellone, Bhooma Thiruvahindrapuram, Christina Fagerberg, Lone Walentin Laulund, Giovanna Pellecchia, Sylvia Lamoureux, Charu Deshpande, Jill Clayton‐Smith, A. Clinton White, Susan Leather, J Q Trounce, H. Melanie Bedford, Eli Hatchwell, Peggy S. Eis, Ryan K. C. Yuen, Susan Walker, Mohammed Uddin, Michael T. Geraghty, Sarah M. Nikkel, Eva Tomiak, Bridget A. Fernandez, Noam Soreni, Jennifer Crosbie, Paul Arnold, Russell Schachar, Wendy Roberts, Andrew D. Paterson, Jonathan So, Péter Szatmári, Christina Chrysler, Marc Woodbury‐Smith, R. Brian Lowry, Lonnie Zwaigenbaum, D. Mandyam, John Wei, Jeffrey R. MacDonald, Jennifer Howe, Thomas Nalpathamkalam, Z. Wang, Debbie Tolson, Donna Cobb, Timothy Wilks, Merete Juul Sørensen, Patricia I. Bader, Yu An, Bai-Lin Wu, S Musumeci, Corrado Romano, Diana Postorivo, A. Nardone, Matteo Della Monica, Gioacchino Scarano, Leonardo Zoccante, Francesca Novara, Orsetta Zuffardi, Roberto Ciccone, Vincenzo Antona, Massimo Carella, Leopoldo Zelante, Pietro Cavalli, Carlo Poggiani, Ugo Cavallari, Bob Argiropoulos, Judy Chernos, Charlotte Brasch‐Andersen, Marsha Speevak, Marco Fichera, Caroline Mackie Ogilvie, Ya Shen, JM Hodge, Michael E. Talkowski, Dimitri J. Stavropoulos, Christian R. Marshall, Stephen W. Scherer

    Publié 2013
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