Resultats de la cerca - Cathy A. Stevens

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  1. 1
    Adults with Rubinstein–Taybi syndrome

    Adults with Rubinstein–Taybi syndrome per Cathy A. Stevens, Jill Pouncey, Darcy Knowles

    Publicat 2011
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  2. 2
    Epidermolysis Bullosa with Congenital Pyloric Atresia: Novel Mutations in the β4 Integrin Gene (ITGB4) and Genotype/Phenotype Correlations

    Epidermolysis Bullosa with Congenital Pyloric Atresia: Novel Mutations in the β4 Integrin Gene (ITGB4) and Genotype/Phenotype Correlations per Aoi Nakano, Leena Pulkkinen, Dédée F. Murrell, Joyce Rico, Anne W. Lucky, Maria C. Garzón, Cathy A. Stevens, Stephen P. Robertson, Ellen G Pfendner, Jouni Uitto

    Publicat 2001
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  3. 3
    A retrospective review of multiple findings in diagnostic exome sequencing: halF.A.re distinct and halF.A.re overlapping diagnoses

    A retrospective review of multiple findings in diagnostic exome sequencing: halF.A.re distinct and halF.A.re overlapping diagnoses per Erica D. Smith, Kirsten Blanco, Samin A. Sajan, Jesse M. Hunter, Deepali N. Shinde, Bess Wayburn, Mari Rossi, Jennifer Huang, Cathy A. Stevens, Candace Muss, Wendy Alcaraz, Kelly D. Farwell Hagman, Sha Tang, Kelly Radtke

    Publicat 2019
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  4. 4
    Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View

    Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View per Beatrice De Maria, Tresia de Jager, Caitlin Sarubbi, Oliver Bartsch, Alberto Bianchi, Francesco Brancati, Hon-Yin Brian Chung, Albert David, Ariana Kariminejad, Maura Foresti, Marina Gallottini, Bertrand Isidor, Shannon Marchegiani, Fabiana Martins, Laura Mazzanti, Nathalie Roche, Ankur Singh, Cathy A. Stevens, Kenichi Suga, Martin Zenker, Raoul C. M. Hennekam

    Publicat 2017
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  5. 5
    <i>CACNA1I</i> gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders

    <i>CACNA1I</i> gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders per Yousra El Ghaleb, Pauline E. Schneeberger, Monica L. Fernández‐Quintero, Stefanie M. Geisler, Simone Pelizzari, Abeltje M. Polstra, Johanna M. van Hagen, Jonas Denecke, Marta Campiglio, Klaus R. Liedl, Cathy A. Stevens, Richard Person, Stefan Rentas, Eric D. Marsh, Laura K. Conlin, Petronel Tuluc, Kerstin Kutsche, Bernhard E. Flucher

    Publicat 2021
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  6. 6
    Genotype–phenotype analysis of 4q deletion syndrome: Proposal of a critical region

    Genotype–phenotype analysis of 4q deletion syndrome: Proposal of a critical region per Eugen‐Matthias Strehle, Linbo Yu, Jill A. Rosenfeld, Sandra Donkervoort, Yulin Zhou, Tianjian Chen, José E. Martínez, Yao‐Shan Fan, Deborah Barbouth, Hongbo Zhu, Alicia Vaglio, Rosemarie Smith, Cathy A. Stevens, Cynthia J. Curry, Roger L. Ladda, Zheng Fan, Joyce E. Fox, Judith A. Martin, Hoda Abdel‐Hamid, Elizabeth McCracken, Barbara McGillivray, Diane Masser‐Frye, Taosheng Huang

    Publicat 2012
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  7. 7
    Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation

    Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation per Nathaniel H. Robin, Clare Taylor, Donna M. McDonald‐McGinn, Elaine H. Zackai, Peter M. Bingham, Kevin Collins, Dawn Earl, Deepak Gill, Tiziana Granata, Renzo Guerrini, Naomi Katz, Virginia Kimonis, Jean‐Pierre Lin, David R. Lynch, Shehla Mohammed, R. Massey, Marie McDonald, R. Curtis Rogers, Miranda Splitt, Cathy A. Stevens, Marc Tischkowitz, Neil Stoodley, Richard J. Leventer, Daniela T. Pilz, William B. Dobyns

    Publicat 2006
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  8. 8
    Novel variants in the SOX11 gene: additional evidence for the involvement of SOX11 in hypogonadotropic hypogonadism

    Novel variants in the SOX11 gene: additional evidence for the involvement of SOX11 in hypogonadotropic hypogonadism per Társis Paiva Vieira, Beatriz Schincariol-Manhe, Érica Campagnolo, Samira Spineli‐Silva, Nicole de Leeuw, Gabriela Roldão Correia‐Costa, André Luiz Santos Pessoa, Carolina Fischinger Moura de Souza, Cathy A. Stevens, Poupak Javaher, Helena Scallet, Julia Mohr, Saskia Biskup, Johanna C. Herkert, Rolph Pfundt, Lakshmi Mehta, Aisha Rekab, Houda Zghal Elloumi, Andréa Trevas Maciel‐Guerra, Vera Lúcia Gil‐da‐Silva‐Lopes, Ana dos Santos, May Sanyoura

    Publicat 2024
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  9. 9
    Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency

    Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency per Alan F. Rope, Kai Wang, Rune Evjenth, Jinchuan Xing, Jennifer J. Johnston, Jeffrey Swensen, W. Evan Johnson, Barry Moore, Chad D. Huff, Lynne M. Bird, John C. Carey, John M. Opitz, Cathy A. Stevens, Tao Jiang, Christa Schank, Heidi D. Fain, Reid Robison, Brian K. Dalley, Steven S. Chin, Sarah T. South, Theodore J. Pysher, Lynn B. Jorde, Hákon Hákonarson, Johan R. Lillehaug, Leslie G. Biesecker, Mark Yandell, Thomas Arnesen, Gholson J. Lyon

    Publicat 2011
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  10. 10
    Investigation of<i>NRXN1</i>deletions: Clinical and molecular characterization

    Investigation of<i>NRXN1</i>deletions: Clinical and molecular characterization per 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

    Publicat 2013
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  11. 11
    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 per 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

    Publicat 2012
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  12. 12
    Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

    Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes per Shannon Marchegiani, Taylor Davis, Federico Tessadori, Gijs van Haaften, Francesco Brancati, Alexander Hoischen, Haigen Huang, Elise Valkanas, Barbara N. Pusey, Denny Schanze, Hanka Venselaar, Anneke T. Vulto‐van Silfhout, Lynne A. Wolfe, Cynthia J. Tifft, Patricia M. Zerfas, Giovanna Zambruno, Ariana Kariminejad, Farahnaz Sabbagh-Kermani, Janice Lee, Maria Tsokos, Chyi‐Chia Richard Lee, Victor Evangelista de Faria Ferraz, Eduarda Morgana da Silva, Cathy A. Stevens, Nathalie Roche, Oliver Bartsch, Peter Farndon, Eva Bermejo, Brian P. Brooks, Valerie V. Maduro, Bruno Dallapiccola, Feliciano J. Ramos, Hon-Yin Brian Chung, Cédric Le Caignec, Fabiana Martins, W.K. Jacyk, Laura Mazzanti, Han G. Brunner, Jeroen Bakkers, Shuo Lin, May Christine V. Malicdan, Cornelius F. Boerkoel, William A. Gahl, Bert de Vries, Mieke M. van Haelst, Martin Zenker, Thomas C. Markello

    Publicat 2015
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  13. 13
    A dyadic approach to the delineation of diagnostic entities in clinical genomics

    A dyadic approach to the delineation of diagnostic entities in clinical genomics per Leslie G. Biesecker, Margaret P Adam, Fowzan S. Alkuraya, Anne Amemiya, Michael J. Bamshad, Anita Beck, James T. Bennett, Lynne M. Bird, John C. Carey, Brian Hon‐Yin Chung, Robin D. Clark, Timothy C. Cox, Cynthia J. Curry, Mary Beth Dinulos, William B. Dobyns, Philip F. Giampietro, Katta M. Girisha, Ian Glass, John M. Graham, Karen W. Gripp, Chad R. Haldeman‐Englert, Bryan D. Hall, A. Micheil Innes, Jennifer M. Kalish, Kim M. Keppler‐Noreuil, Kenjiro Kosaki, Beth A. Kozel, Ghayda Mirzaa, John J. Mulvihill, Małgorzata J.M. Nowaczyk, Roberta A Pagon, Kyle Retterer, Alan F. Rope, Pedro A. Sanchez‐Lara, Laurie H. Seaver, Joseph T.C. Shieh, Anne Slavotinek, Andrew K. Sobering, Cathy A. Stevens, David A. Stevenson, Tiong Yang Tan, Wen‐Hann Tan, Anne Chun‐Hui Tsai, David D. Weaver, Marc S. Williams, Elaine H. Zackai, Yuri A. Zárate

    Publicat 2021
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  14. 14
    Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

    Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement per Didier Lacombe, Agnès Bloch‐Zupan, Cecilie Bredrup, Edward B. Cooper, Sofia Douzgou, Sixto García‐Miñaúr, Hülya Kayserili, Lidia Larizza, Vanesa López González, Leonie A. Menke, Donatella Milani, Francesco Saettini, Cathy A. Stevens, Lloyd Tooke, Jill A Van der Zee, Maria M. van Genderen, Julien Van‐Gils, Jane Waite, Jean-Louis Adrien, Oliver Bartsch, Pierre Bitoun, A. H. M. Bouts, Anna M. Cueto‐González, Elena Domínguez‐Garrido, Floor A.M. Duijkers, Patricia Fergelot, Elizabeth J. Halstead, Sylvia Huisman, Camilla Meossi, Jo Mullins, Sarah M. Nikkel, Chris Oliver, Elisabetta Prada, Alessandra Rei, Ilka Riddle, Cristina Rodriguez-Fonseca, Rebecca Rodríguez Pena, Janet Russell, Alicia Saba, Fernando Santos‐Simarro, Brittany Simpson, David F. Smith, Markus F. Stevens, Katalin Szakszon, Emmanuelle Taupiac, Nadia Totaro, Irene Valenzuena Palafoll, Daniëlle C M Van Der Kaay, Michiel P. van Wijk, Klea Vyshka, Susan Wiley, Raoul C. M. Hennekam

    Publicat 2024
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  15. 15
    De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

    De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay per Jessica X. Chong, Margaret J. McMillin, Kathryn M. Shively, Anita Beck, Colby T. Marvin, Jose R. Armenteros, Kati J. Buckingham, Naomi T. Nkinsi, Evan A. Boyle, Margaret N. Berry, Maureen Bocian, Nicola Foulds, Maria Luisa Giovannucci Uzielli, Chad R. Haldeman‐Englert, Raoul C.M. Hennekam, Paige Kaplan, Antonie D. Kline, Catherine L. Mercer, Małgorzata J.M. Nowaczyk, Jolien S. Klein Wassink‐Ruiter, Elizabeth W. McPherson, Regina A. Moreno, Angela E. Scheuerle, Vandana Shashi, Cathy A. Stevens, John C. Carey, Arnaud Monteil, Philippe Lory, Holly K. Tabor, Joshua D. Smith, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad, Michael J. Bamshad, Jay Shendure, Deborah A. Nickerson, Gonçalo R. Abecasis, Peter Anderson, Elizabeth Blue, Marcus Annable, Brian L. Browning, Kati J. Buckingham, Christina Chen, Jennifer Chin, Jessica X. Chong, Gregory M. Cooper, Colleen Davis, Christopher Frazar, Tanya M. Harrell, Zongxiao He, Preti Jain, Gail P. Jarvik, Guillaume Jimenez, Eric Johanson, Goo Jun, Martin Kircher, Tom Kolar, Stephanie Krauter, Niklas Krumm, Suzanne M. Leal, Daniel Luksic, Colby T. Marvin, Margaret J. McMillin, Sean McGee, Patrick O’Reilly, Bryan Paeper, Karynne Patterson, M. Lázaro Pérez, Sam W. Phillips, Jessica Pijoan, Christa Poel, Frédéric Reinier, Peggy D. Robertson, Regie Lyn P. Santos‐Cortez, Tristan Shaffer, Cindy Shephard, Kathryn M. Shively, Deborah L. Siegel, Joshua D. Smith, Jeffrey Staples, Holly K. Tabor, Monica Tackett, Jason G. Underwood, Marc Wegener, Gao Wang, Marsha M. Wheeler, Yi Qian

    Publicat 2015
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  16. 16
    Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in <i>POLR3A</i>, <i>POLR3B</i>, and <i>POLR1C</i>

    Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in <i>POLR3A</i>, <i>POLR3B</i>, and <i>POLR1C</i> per Félixe Pelletier, Stefanie Perrier, Ferdy Kurniawan Cayami, Amytice Mirchi, Stéphan Saïkali, Luan T. Tran, Nicole Ulrick, Kether Guerrero, Emmanouil Rampakakis, Rosalina M.L. van Spaendonk, Sakkubai Naidu, Daniela Pohl, William T. Gibson, Michelle Demos, Cyril Goizet, Ingrid Tejera-Martin, Ana Potic, Brent L. Fogel, Bernard Brais, Michel Sylvain, Guillaume Sébire, Charles Marques Lourenço, Joshua L. Bonkowsky, Coriene E. Catsman‐Berrevoets, Pedro Soares Pinto, Sandya Tirupathi, Petter Strømme, Ton de Grauw, Dorota Gieruszczak‐Białek, Ingeborg Krägeloh‐Mann, Hanna Mierzewska, Heike Philippi, Julia Rankin, Tahir Atık, Brenda Banwell, William Benko, Astrid Blaschek, Annette Bley, Eugen Boltshauser, Drago Bratkovic, Klára Brožová, Icíar Cimas, Christopher Clough, Bernard Corenblum, Argirios Dinopoulos, Gail Dolan, Flavio Faletra, Raymond Fernandez, Janice M. Fletcher, María Eugenia García, Paolo Gasparini, Janina Gburek‐Augustat, Dolores González Morón, Aline I. Hamati, Inga Harting, Christoph Hertzberg, Alan Hill, Grace M. Hobson, A. Micheil Innes, Marcelo Kauffman, Susan M. Kirwin, Gerhard Kluger, Petra Kolditz, Urania Kotzaeridou, Roberta La Piana, Eriskay Liston, W. McClintock, Meriel McEntagart, Fiona McKenzie, Serge B. Melançon, Anjum Misbahuddin, Mohnish Suri, Fernando Montón, Sébastien Moutton, Raymond P. Murphy, Miriam Nickel, Hüseyin Önay, Simona Orcesi, Ferda Özkınay, Steffi Patzer, Hélio Pedro, Sandra Pekić, M. Pineda, Amy Pizzino, Barbara Plecko, Bwee Tien Poll‐The, Vera Popović, D. Rating, Marie‐France Rioux, N. Rodríguez-Espinosa, Anne Ronan, John R. Østergaard, Elsa Rossignol, Rocío Sánchez‐Carpintero, Anna Schossig, Nesrin Şenbil, Laura Roos, Cathy A. Stevens, Matthis Synofzik, László Sztriha

    Publicat 2020
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  17. 17
    Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

    Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome per Sarah E. Sheppard, Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson, Julie S. Cohen, Jill A. Fahrner, Ali Fatemi, Jacqueline Harris, C. Nowak, Cathy A. Stevens, Katheryn Grand, Margaret Au, John M. Graham, Pedro A. Sanchez‐Lara, Miguel Del Campo, Marilyn C. Jones, Omar Abdul‐Rahman, Fowzan S. Alkuraya, Jennifer A. Bassetti, Katherine Bergstrom, Elizabeth Bhoj, Sarah Dugan, Julie Kaplan, Nada Derar, Karen W. Gripp, Natalie Hauser, A. Micheil Innes, Beth Keena, Neslida Kodra, Rebecca L. Miller, Beverly Nelson, Małgorzata J.M. Nowaczyk, Zuhair Rahbeeni, Shay Ben‐Shachar, Joseph T.C. Shieh, Anne Slavotinek, Andrew K. Sobering, Mary‐Alice Abbott, Dawn C. Allain, Louise Amlie‐Wolf, Ping Yee Billie Au, Emma Bedoukian, Geoffrey Beek, James S. Barry, Janet Berg, Jonathan A. Bernstein, Cheryl Cytrynbaum, Brian Hon‐Yin Chung, Sarah Donoghue, Naghmeh Dorrani, Alison Eaton, Josue A. Flores‐Daboub, Holly Dubbs, Carolyn A. Felix, Chin‐To Fong, Jasmine Lee Fong Fung, Balram Gangaram, Amy Goldstein, Rotem Greenberg, Thoa K. Ha, Joseph H. Hersh, Kosuke Izumi, Staci Kallish, Elijah Kravets, Pui‐Yan Kwok, Rebekah Jobling, Amy E. Knight Johnson, Jessica D. Kushner, Bo Hoon Lee, Brooke Levin, Kristin Lindstrom, Kandamurugu Manickam, Rebecca Mardach, Elizabeth M. McCormick, D. Ross McLeod, Frank Mentch, Kelly Q. Minks, Colleen Muraresku, Stanley F. Nelson, Patrizia Porazzi, Pavel N. Pichurin, Nina Powell‐Hamilton, Zöe Powis, Alyssa Ritter, Caleb Rogers, Luis Rohena, Carey Ronspies, Audrey Schroeder, Zornitza Stark, Lois J. Starr, Joan M. Stoler, Pim Suwannarat, Milen Velinov, Rosanna Weksberg, Yael Wilnai, Neda Zadeh, Dina J. Zand, Marni J. Falk

    Publicat 2021
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