Ohcanbohtosat - Catherine E. Keegan

  • Čájehuvvo 1 - 20 / 20
Aiddostahte ozu
  1. 1
    Telomere Protection by TPP1 Is Mediated by POT1a and POT1b

    Telomere Protection by TPP1 Is Mediated by POT1a and POT1b Dahkki Tatsuya Kibe, Gail A. Osawa, Catherine E. Keegan, Titia de Lange

    Almmustuhtton 2009
    Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:
  2. 2
    Prenatal ascertainment of OEIS complex/cloacal exstrophy—15 new cases and literature review

    Prenatal ascertainment of OEIS complex/cloacal exstrophy—15 new cases and literature review Dahkki Kim M. Keppler‐Noreuil, Sue Gorton, Florence Foo, Jerome Yankowitz, Catherine E. Keegan

    Almmustuhtton 2007
    Viečča ollesdeavstta
    Revisão
    Lasit oiddohiidda
    Furkejuvvon:
  3. 3
    The shelterin complex and hematopoiesis

    The shelterin complex and hematopoiesis Dahkki Morgan Jones, Kamlesh Bisht, Sharon A. Savage, Jayakrishnan Nandakumar, Catherine E. Keegan, Ivan Maillard

    Almmustuhtton 2016
    Viečča ollesdeavstta Viečča ollesdeavstta
    Revisão
    Lasit oiddohiidda
    Furkejuvvon:
  4. 4
    Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability

    Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability Dahkki Christina N. Vallianatos, Clara Farrehi, Michael J. Friez, Margit Burmeister, Catherine E. Keegan, Shigeki Iwase

    Almmustuhtton 2018
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:
  5. 5
    Disorders of sex development (DSD): Clinical service delivery in the United States

    Disorders of sex development (DSD): Clinical service delivery in the United States Dahkki Aimee Rolston, Melissa Gardner, Kathleen van Leeuwen, Lauren Mohnach, Catherine E. Keegan, Emmanuèle C. Délot, Éric Vilain, David E. Sandberg

    Almmustuhtton 2017
    Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:
  6. 6
    Steroidogenic Factor-1 Is Essential for Compensatory Adrenal Growth Following Unilateral Adrenalectomy

    Steroidogenic Factor-1 Is Essential for Compensatory Adrenal Growth Following Unilateral Adrenalectomy Dahkki Felix Beuschlein, Christopher A. Mutch, David L. Bavers, Yvonne M. Ulrich‐Lai, William C. Engeland, Catherine E. Keegan, Gary D. Hammer

    Almmustuhtton 2002
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:
  7. 7
    <i>MAP3K1</i>‐related gonadal dysgenesis: Six new cases and review of the literature

    <i>MAP3K1</i>‐related gonadal dysgenesis: Six new cases and review of the literature Dahkki Andrea Granados, Veronica I. Alaniz, Lauren Mohnach, Hayk Barseghyan, Éric Vilain, Harry Ostrer, Elisabeth H. Quint, Ming Chen, Catherine E. Keegan

    Almmustuhtton 2017
    Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:
  8. 8
    <i>De novo</i>dominant<i>ASXL3</i>mutations alter H2A deubiquitination and transcription in Bainbridge–Ropers syndrome

    <i>De novo</i>dominant<i>ASXL3</i>mutations alter H2A deubiquitination and transcription in Bainbridge–Ropers syndrome Dahkki Anshika Srivastava, K.C. Ritesh, Yao-Chang Tsan, Rosy Liao, Fengyun Su, Xuhong Cao, Mark C. Hannibal, Catherine E. Keegan, Arul M. Chinnaiyan, Donna M. Martin, Stephanie Bielas

    Almmustuhtton 2015
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:
  9. 9
    Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia

    Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia Dahkki William A. Paznekas, Simeon A. Boyadjiev, Robert E. Shapiro, Otto Daniëls, Bernd Wollnik, Catherine E. Keegan, Jeffrey W. Innis, Mary Beth Dinulos, Cathy Christian, Mark C. Hannibal, Ethylin Wang Jabs

    Almmustuhtton 2003
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:
  10. 10
    Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1

    Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1 Dahkki Hande Koçak, Bari J. Ballew, Kamlesh Bisht, Rebecca Eggebeen, Belynda Hicks, Shalabh Suman, Adri O’Neil, Neelam Giri, Ivan Maillard, Blanche P. Alter, Catherine E. Keegan, Jayakrishnan Nandakumar, Sharon A. Savage

    Almmustuhtton 2014
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:
  11. 11
    Mutually suppressive roles of KMT2A and KDM5C in behaviour, neuronal structure, and histone H3K4 methylation

    Mutually suppressive roles of KMT2A and KDM5C in behaviour, neuronal structure, and histone H3K4 methylation Dahkki Christina N. Vallianatos, Brynne Raines, Robert S. Porter, Katherine M. Bonefas, Michael C. Wu, Patricia M. Garay, Katie M. Collette, Young Ah Seo, Yali Dou, Catherine E. Keegan, Natalie C. Tronson, Shigeki Iwase

    Almmustuhtton 2020
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:
  12. 12
    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 Dahkki 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

    Almmustuhtton 2008
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:
  13. 13
    Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development

    Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development Dahkki Ruth M. Baxter, Valerie A. Arboleda, Hane Lee, Hayk Barseghyan, Margaret P Adam, Patricia Y. Fechner, Renee Bargman, Catherine E. Keegan, Sharon Travers, Susan Schelley, Louanne Hudgins, Revi P. Mathew, Heather J. Stalker, Roberto Zori, Ora Gordon, Leigh Ramos‐Platt, Anna Pawlikowska‐Haddal, Ascia Eskin, Stanley F. Nelson, Emmanuèle C. Délot, Éric Vilain

    Almmustuhtton 2014
    Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:
  14. 14
    Genetics of Disorders of Sex Development

    Genetics of Disorders of Sex Development Dahkki Emmanuèle C. Délot, Jeanette C. Papp, David E. Sandberg, Éric Vilain, Emmanuèle C. Délot, Michelle Fox, Wayne W. Grody, Hane Lee, Jeanette C. Papp, Éric Vilain, Catherine E. Keegan, Linda Ramsdell, Janet Green, Hayk Barseghyan, Naghmeh Dorrani, Lauren Mohnach, Margaret A. Pearson, Jullianne Diaz, Eyby Leon, Robert J. Hopkin, Jodie Johnson, Howard M. Saal, Ina Amarillo, Margaret P Adam

    Almmustuhtton 2017
    Viečča ollesdeavstta
    Revisão
    Lasit oiddohiidda
    Furkejuvvon:
  15. 15
    Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum

    Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum Dahkki Thatiana Evilen da Silva, Nathália Lisboa Gomes, Antônio Marcondes Lerário, Catherine E. Keegan, Mirian Yumie Nishi, Filomena Marino Carvalho, Éric Vilain, Hayk Barseghyan, Alejandro Martínez‐Aguayo, María Verónica Forclaz, R Papazian, Leila Cristina Pedroso de Paula, Eduardo Corrêa Costa, Luciani R. Carvalho, Alexander A.L. Jorge, Felipe Martins Elias, Rod T. Mitchell, Elaine Maria Frade Costa, Berenice B. Mendonça, Sorahia Domenice

    Almmustuhtton 2019
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:
  16. 16
    Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

    Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations Dahkki Elizabeth A. Werren, Emily Peirent, Henna Jäntti, Alba Guxholli, Kinshuk Raj Srivastava, Naama Orenstein, Vinodh Narayanan, Wojciech Wiszniewski, Mateusz Dawidziuk, Paweł Gawliński, Muhammad Umair, Amjad Khan, Shahid Niaz Khan, David Geneviève, Daphné Lehalle, Koen L.I. van Gassen, Jacques C. Giltay, Renske Oegema, Richard H. van Jaarsveld, Rafiullah Rafiullah, Gudrun Rappold, Rachel Rabin, John Pappas, Marsha M. Wheeler, Michael J. Bamshad, Yao-Chang Tsan, Matthew B. Johnson, Catherine E. Keegan, Anshika Srivastava, Stephanie Bielas

    Almmustuhtton 2024
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:
  17. 17
    TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

    TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations Dahkki Jason O'Rawe, Yiyang Wu, Max J. Dörfel, Alan F. Rope, Ping Yee Billie Au, Jillian S. Parboosingh, Sungjin Moon, Maria Kousi, Konstantina Kosma, Christopher Smith, Maria Tzetis, Jane L. Schuette, Robert B. Hufnagel, Carlos E. Prada, Francisco Martı́nez, Carmen Orellana, Jonathan Crain, Alfonso Caro‐Llopis, Silvestre Oltra, Sandra Monfort, Laura T. Jiménez-Barrón, Jeffrey Swensen, Sara Ellingwood, Rosemarie Smith, Han Fang, Sandra Ospina, Alexander P.A. Stegmann, Nicolette S. den Hollander, David Mittelman, Gareth Highnam, Reid Robison, Edward Yang, Laurence Faivre, Agathe Roubertie, Jean‐Baptiste Rivière, Kristin G. Monaghan, Kai Wang, Erica E. Davis, Nicholas Katsanis, Vera M. Kalscheuer, Edith H. Wang, Kay Metcalfe, Tjitske Kleefstra, A. Micheil Innes, Sophia Kitsiou‐Tzeli, Mónica Roselló, Catherine E. Keegan, Gholson J. Lyon

    Almmustuhtton 2015
    Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:
  18. 18
    PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

    PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution Dahkki Ghayda Mirzaa, Andrew E. Timms, Valerio Conti, Evan A. Boyle, Katta M. Girisha, Beth Martin, Martin Kircher, Carissa Olds, Jane Juusola, Sarah Collins, Kaylee Park, Melissa Carter, Ian Glass, Inge Krägeloh-Mann, David Chitayat, Aditi Shah Parikh, Rachael Bradshaw, Erin Torti, Steve Braddock, Leah W. Burke, Sondhya Ghedia, Mark Stephan, Fiona Stewart, Chitra Prasad, Melanie Napier, Sulagna C. Saitta, Rachel Straussberg, Michael T. Gabbett, Bridget O’Connor, Catherine E. Keegan, Lim Jiin Yin, Angeline Lai, Nicole Martin, Margaret L. McKinnon, Marie-Claude Addor, Luigi Boccuto, Charles E. Schwartz, Agustina Lanöel, Robert L. Conway, Koenraad Devriendt, Katrina Tatton‐Brown, Mary Ella Pierpont, Michael J. Painter, Lisa Worgan, James D. Reggin, Raoul C. M. Hennekam, Karen D. Tsuchiya, Colin C. Pritchard, Mariana Aracena, Karen W. Gripp, Maria Cordisco, Hilde Van Esch, Livia Garavelli, Cynthia J. Curry, Anne Goriely, Hülya Kayserilli, Jay Shendure, John M. Graham, Renzo Guerrini, William B. Dobyns

    Almmustuhtton 2016
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:
  19. 19
    Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

    Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 Dahkki Laura Castilla‐Vallmanya, Kaja Kristine Selmer, Clémantine Dimartino, Raquel Rabionet, Bernardo Blanco‐Sánchez, Sandra Yang, Margot R.F. Reijnders, A.J. van Essen, Myriam Oufadem, Magnus Dehli Vigeland, Barbro Stadheim, Gunnar Houge, Helen Cox, Helen Kingston, Jill Clayton‐Smith, Jeffrey W. Innis, Maria Iascone, Anna Cereda, Sara Gabbiadini, Wendy K. Chung, Victoria R. Sanders, Joel Charrow, Emily Bryant, J Gordon Millichap, Antonio Vitobello, Christel Thauvin, Frédéric Tran Mau‐Them, Laurence Faivre, Gaëtan Lesca, Audrey Labalme, Christelle Rougeot, Nicolas Chatron, Damien Sanlaville, Katherine Christensen, Amelia Kirby, Raymond Lewandowski, Rachel Gannaway, Maha Abdelgaber A. Aly, Anna Lehman, Lorne A. Clarke, Luitgard Graul‐Neumann, Christiane Zweier, Davor Lessel, Bernarda Lozić, Ingvild Aukrust, Ryan Peretz, Robert F. Stratton, Thomas Smol, Anne Dieux‐Coëslier, Joanna Góes Castro Meira, Elizabeth Wohler, Nara Sobreira, Erin Beaver, Jennifer Heeley, Lauren C. Briere, Frances A. High, David A. Sweetser, Melissa Walker, Catherine E. Keegan, Parul Jayakar, Marwan Shinawi, Wilhelmina S. Kerstjens‐Frederikse, Dawn Earl, Victoria Mok Siu, Emma Reesor, Tony Yao, Robert A. Hegele, Olena M. Vaske, Shannon Rego, Kevin A. Shapiro, Brian Wong, Michael J. Gambello, Marie McDonald, Danielle Karlowicz, Roberto Colombo, Alessandro Serretti, Lynn Pais, Anne O’Donnell‐Luria, Alison Wray, Simon Sadedin, Belinda Chong, Tiong Yang Tan, John Christodoulou, Susan M. White, Anne Slavotinek, Deborah Barbouth, Dayna Morel Swols, Mélanie Parisot, Christine Bôle‐Feysot, Patrick Nitschké, Véronique Pingault, Arnold Munnich, Megan T. Cho, Valérie Cormier‐Daire, Susana Balcells, Stanislas Lyonnet, Daniel Grinberg, Jeanne Amiel, Roser Urreizti, Christopher T. Gordon

    Almmustuhtton 2020
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:
  20. 20
    Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

    Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling Dahkki Brett V. Johnson, Raman Kumar, Sabrina Oishi, Suzy Alexander, Maria Kasherman, Michelle Sanchez Vega, Atma M. Ivancevic, Alison Gardner, Deepti Domingo, Mark Corbett, Euan Parnell, Sehyoun Yoon, Tracey Oh, Matthew A. Lines, Henrietta Lefroy, Usha Kini, Margot Van Allen, Sabine Grønborg, Sandra Mercier, Sébastien Küry, Stéphane Bézieau, Laurent Pasquier, Martine Raynaud, Alexandra Afenjar, Thierry Billette de Villemeur, Boris Keren, Julie Désir, Lionel Van Maldergem, Martina Marangoni, Nicola Dikow, David A. Koolen, Peter M. VanHasselt, Marjan M. Weiss, Petra Zwijnenburg, Joaquim Sá, C Reis, Carlos López-Otı́n, Olaya Santiago‐Fernández, Alberto Fernández‐Jaén, Anita Rauch, Katharina Steindl, Pascal Joset, Amy Goldstein, Suneeta Madan‐Khetarpal, Elena Infante, Elaine H. Zackai, Carey McDougall, Vinodh Narayanan, Keri Ramsey, Saadet Mercimek‐Andrews, Loren D.M. Peña, Vandana Shashi, Kelly Schoch, Jennifer A. Sullivan, Filippo Pinto e Vairo, Pavel N. Pichurin, Sarah Ewing, Sarah Barnett, Eric W. Klee, Matthew Perry, Mary Kay Koenig, Catherine E. Keegan, Jane L. Schuette, Stephanie Asher, Yezmin Perilla‐Young, Laurie D. Smith, Jill A. Rosenfeld, Elizabeth Bhoj, Paige Kaplan, Dong Li, Renske Oegema, Ellen van Binsbergen, Bert van der Zwaag, Marie Falkenberg Smeland, Ioana Cutcutache, Matthew Page, Martin Armstrong, Angela E. Lin, Marcie Steeves, Nicolette S. den Hollander, Mariëtte J.V. Hoffer, Margot R.F. Reijnders, Serwet Demirdas, Daniel C. Koboldt, Dennis Bartholomew, Theresa Mihalic Mosher, Scott E. Hickey, Christine Shieh, Pedro A. Sanchez‐Lara, John M. Graham, Kamer Tezcan, G. Bradley Schaefer, Noelle R. Danylchuk, Alexander Asamoah, Kelly E. Jackson, Naomi Yachelevich, Margaret Au, Luis A. Pérez‐Jurado, Tjitske Kleefstra, Peter Penzes

    Almmustuhtton 2019
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:

Ohcanreaiddut: