检索结果 - Elizabeth Roeder

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  1. 1
    Apparent cyclophosphamide (cytoxan) embryopathy: A distinct phenotype?

    Apparent cyclophosphamide (cytoxan) embryopathy: A distinct phenotype? 由 Gregory M. Enns, Elizabeth Roeder, Ruth T. Chan, Zohra Ali‐Khan Catts, Victoria Cox, Mahin Golabi

    出版 1999
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  2. 2
    Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review

    Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review 由 Ayman W. El‐Hattab, Christian P. Schaaf, Ping Fang, Elizabeth Roeder, Virginia Kimonis, Joseph A. Church, Ankita Patel, Sau Wai Cheung

    出版 2015
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  3. 3
    Loss-of-function mutations in the human <i>GLI2</i> gene are associated with pituitary anomalies and holoprosencephaly-like features

    Loss-of-function mutations in the human <i>GLI2</i> gene are associated with pituitary anomalies and holoprosencephaly-like features 由 Erich Roessler, Yangzhu Du, José L. Mullor, Esther Casas, William Allen, Gabriele Gillessen‐Kaesbach, Elizabeth Roeder, Jeffrey E. Ming, Ariel Ruiz i Altaba, Maximilian Muenke

    出版 2003
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  4. 4
    Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

    Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12 由 Sandesh C. Sreenath Nagamani, Ayelet Erez, Joseph Shen, Chumei Li, Elizabeth Roeder, Sarah K. Cox, Lefkothea Karaviti, Margret Pearson, Sung‐Hae Kang, Trilochan Sahoo, Seema R. Lalani, Paweł Stankiewicz, V. Reid Sutton, Sau Wai Cheung

    出版 2009
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  5. 5
    Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes

    Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes 由 Zhishuo Ou, Jonathan S. Berg, Hagith Yonath, Victoria B. Enciso, David T. Miller, Jonathan Picker, Tiffanee Lenzi, Catherine E. Keegan, V. Reid Sutton, John W. Belmont, A. Craig Chinault, James R. Lupski, Sau Wai Cheung, Elizabeth Roeder, Ankita Patel

    出版 2008
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  6. 6
    Phenotypic manifestations of copy number variation in chromosome 16p13.11

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

    出版 2010
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  7. 7
    NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

    NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation 由 Vincenzo A. Gennarino, Callison E Alcott, Chun‐An Chen, Arindam Chaudhury, Madelyn A. Gillentine, Jill A. Rosenfeld, Sumit Parikh, James W. Wheless, Elizabeth Roeder, Dafne D. G. Horovitz, Erin K. Roney, Janice Smith, Sau Wai Cheung, Wei Li, Joel R. Neilson, Christian P. Schaaf, Huda Y. Zoghbi

    出版 2015
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  8. 8
    Gain-of-Function Mutations in<i>RARB</i>Cause Intellectual Disability with Progressive Motor Impairment

    Gain-of-Function Mutations in<i>RARB</i>Cause Intellectual Disability with Progressive Motor Impairment 由 Myriam Srour, Véronique Caron, Toni S. Pearson, Sarah B. Nielsen, Sébastien Levesque, Marie-Ange Delrue, Troy A. Becker, Fadi F. Hamdan, Zoha Kibar, Shannon G. Sattler, Michael C. Schneider, Pierre Bitoun, Nicolas Chassaing, Jill A. Rosenfeld, Fan Xia, Sonal Desai, Elizabeth Roeder, Virginia Kimonis, Adele Schneider, Rebecca O. Littlejohn, Sofia Douzgou, André Tremblay, Jacques L. Michaud

    出版 2016
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  9. 9
    Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications

    Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications 由 Pengfei Liu, Ayelet Erez, Sandesh C. Sreenath Nagamani, Weimin Bi, Claudia M.B. Carvalho, Alexandra D. Simmons, Joanna Wiszniewska, Ping Fang, Patricia A. Eng, M. Lance Cooper, V. Reid Sutton, Elizabeth Roeder, John B. Bodensteiner, Mauricio R. Delgado, Siddharth K. Prakash, John W. Belmont, Paweł Stankiewicz, Jonathan S. Berg, Marwan Shinawi, Ankita Patel, Sau Wai Cheung, James R. Lupski

    出版 2011
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  10. 10
    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 由 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

    出版 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 由 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

    出版 2010
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  12. 12
    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 由 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

    出版 2009
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  13. 13
    Variants in the SK2 channel gene (<i>KCNN2</i>) lead to dominant neurodevelopmental movement disorders

    Variants in the SK2 channel gene (<i>KCNN2</i>) lead to dominant neurodevelopmental movement disorders 由 Fanny Mochel, Agnès Rastetter, Berten Ceulemans, Konrad Platzer, Sandra Yang, Deepali N. Shinde, Katherine L. Helbig, Diego Lopergolo, Francesca Mari, Alessandra Renieri, Elisa Benetti, Roberto Canitano, Quinten Waisfisz, Astrid S. Plomp, Sylvia Huisman, Golder N. Wilson, Sara Cathey, Raymond J. Louie, Daniela del Gaudio, Darrel Waggoner, Shawn Kacker, Kimberly Nugent, Elizabeth Roeder, Ange-Line Bruel, Julien Thévenon, Nadja Ehmke, Denise Horn, Manuel Holtgrewe, Frank J. Kaiser, Susanne Kamphausen, Rami Abou Jamra, Sarah Weckhuysen, Carine Dalle, Christel Depienne

    出版 2020
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  14. 14
    Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

    Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation 由 Kezhi Yan, Justine Rousseau, Rebecca O. Littlejohn, Courtney Kiss, Anna Lehman, Jill A. Rosenfeld, Constance T. R. M. Stumpel, Alexander P.A. Stegmann, Laurie Robak, Fernando Scaglia, Thi Tuyet Mai Nguyen, He Fu, Norbert Fonya Ajeawung, Maria Vittoria Camurri, Lin Li, Alice Gardham, Bianca Panis, Mohammed Almannai, María J. Guillen Sacoto, Berivan Baskin, Claudia Ruivenkamp, Fan Xia, Weimin Bi, Megan T. Cho, Thomas P. Potjer, Gijs W.E. Santen, Michael Parker, Natalie Canham, Margaret L. McKinnon, Lorraine Potocki, Jennifer MacKenzie, Elizabeth Roeder, Philippe M. Campeau, Xiang-Jiao Yang

    出版 2016
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  15. 15
    Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

    Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features 由 Jing Zhang, Tomasz Gambin, Bo Yuan, Przemysław Szafrański, Jill A. Rosenfeld, Mohammed Al Balwi, Abdulrahman Alswaid, Lihadh Al‐Gazali, Aisha M. Al Shamsi, Makanko Komara, Bassam R. Ali, Elizabeth Roeder, Laura McAuley, Daniel Roy, David K. Manchester, Pilar Magoulas, Lauren E. King, Vickie Hannig, Dominique Bonneau, Anne‐Sophie Denommé‐Pichon, Majida Charif, Thomas Besnard, Stéphane Bézieau, Benjamin Cogné, Joris Andrieux, Wenmiao Zhu, Weimin He, Francesco Vetrini, Patricia A. Ward, Sau Wai Cheung, Weimin Bi, Christine M. Eng, James R. Lupski, Yaping Yang, Ankita Patel, Seema R. Lalani, Fan Xia, Paweł Stankiewicz

    出版 2017
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  16. 16
    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 由 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

    出版 2008
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  17. 17
    Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

    Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals 由 B. D. Solomon, Felicitas Lacbawan, Sandra Mercier, Nancy J. Clegg, Mauricio R. Delgado, Kenneth N. Rosenbaum, Christèle Dubourg, Véronique David, Ann Haskins Olney, Lore Wehner, Ute Hehr, Swarna Bale, A. Paulussen, Hubert J.M. Smeets, Emily Hardisty, Anna Tylki‐Szymańska, Ewa Pronicka, Marcell Clemens, Elizabeth McPherson, Raoul C. M. Hennekam, Jin S. Hahn, Elaine Stashinko, Eric Levey, Dagmar Wieczorek, Elizabeth Roeder, Can Schell-Apacik, Carol W. Booth, R. L. Thomas, Sue Kenwrick, Derek A. T. Cummings, Sophia M. Bous, Amelia A. Keaton, Joan Z. Balog, Donald W. Hadley, Nan Zhou, Rui Long, Jorge I. Vélez, Daniel Pineda‐Alvarez, Sylvie Odent, Erich Roessler, Maximilian Muenke

    出版 2009
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  18. 18
    Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

    Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants 由 Jennifer J. Johnston, Jasper J. van der Smagt, Jill A. Rosenfeld, Alistair T. Pagnamenta, Abdulrahman Alswaid, Eva H. Baker, Edward Blair, Guntram Borck, Julia Brinkmann, William Craigen, Vũ Chí Dũng, Lisa Emrick, David B. Everman, Koen L.I. van Gassen, Süleyman Gülsüner, Margaret Harr, Mahim Jain, Alma Kuechler, Kathleen A. Leppig, Donna M. McDonald‐McGinn, Ngoc Thi Bich Can, Amir Peleg, Elizabeth Roeder, R. Curtis Rogers, Lena Sagi‐Dain, Julie C. Sapp, Alejandro A. Schäffer, Denny Schanze, Helen Stewart, Jenny C. Taylor, Nienke E. Verbeek, Magdalena Walkiewicz, Elaine H. Zackai, Christiane Zweier, Martin Zenker, Brendan Lee, Leslie G. Biesecker

    出版 2018
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  19. 19
    Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial

    Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial 由 Elizabeth Roof, Cheri Deal, Shawn E. McCandless, Ronald L. Cowan, Jennifer Miller, Jill Hamilton, Elizabeth Roeder, Shana E. McCormack, Tamanna Roshan Lal, Hussein Abdullatif, Andrea M. Haqq, Kathryn Obrynba, Laura Torchen, Alaina P. Vidmar, David Viskochil, Jean‐Pierre Chanoine, Carol Lam, Melinda Pierce, Laurel L. Williams, Lynne M. Bird, Merlin G. Butler, D. E. Jensen, S Myers, Oliver Oatman, Charumathi Baskaran, Laura Chalmers, Cary Fu, Nathalie Alos, Scott D. McLean, Ajay M. Shah, Barbara Y. Whitman, Brent A. Blumenstein, Sarah F Leonard, Jessica P Ernest, Joseph W. Cormier, Sara P. Cotter, Davis C. Ryman

    出版 2023
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  20. 20
    The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

    The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis 由 Karin Weiss, Hayley P. Lazar, Alina Kurolap, Ariel F. Martinez, Tamar Paperna, Lior Cohen, Marie Falkenberg Smeland, Sandra Whalen, Solveig Heide, Boris Keren, Pauline Terhal, Melita Irving, Motoki Takaku, John D. Roberts, Robert M. Petrovich, Samantha A. Schrier Vergano, Amy Kenney, Hanne Hove, Elizabeth T. DeChene, Shane C. Quinonez, Estelle Colin, Alban Ziegler, Melissa Rumple, Mahim Jain, Danielle Monteil, Elizabeth Roeder, Kimberly Nugent, Arie van Haeringen, Michael J. Gambello, Avni Santani, Līvija Medne, Bryan L. Krock, Cara Skraban, Elaine H. Zackai, Holly Dubbs, Thomas Smol, Jamal Ghoumid, Michael Parker, Michael Wright, Peter D. Turnpenny, Jill Clayton‐Smith, Kay Metcalfe, Hitoshi Kurumizaka, Bruce D. Gelb, Hagit Baris Feldman, Philippe M. Campeau, Maximilian Muenke, Paul A. Wade, Katherine Lachlan

    出版 2019
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