نتائج البحث - Rebecca O. Littlejohn

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  1. 1
    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 حسب 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

    منشور في 2016
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    Artigo
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  2. 2
    De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive

    De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive حسب Mari Tokita, Alicia Braxton, Yunru Shao, Andrea M. Lewis, Marie Vincent, Sébastien Küry, Thomas Besnard, Bertrand Isidor, Xénia Latypova, Stéphane Bézieau, Pengfei Liu, Connie S. Motter, Catherine Ward Melver, Nathaniel H. Robin, Elena Infante, Marianne McGuire, Areeg El‐Gharbawy, Rebecca O. Littlejohn, Scott D. McLean, Weimin Bi, Carlos A. Bacino, Seema R. Lalani, Daryl A. Scott, Christine M. Eng, Yaping Yang, Christian P. Schaaf, Magdalena Walkiewicz

    منشور في 2016
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  3. 3
    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 حسب 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

    منشور في 2016
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  4. 4
    DNM1 encephalopathy: A new disease of vesicle fission.

    DNM1 encephalopathy: A new disease of vesicle fission. حسب Sarah von Spiczak, Katherine L. Helbig, Deepali N. Shinde, Robert Huether, Manuela Pendziwiat, Charles Marques Lourenço, Mark E. Nuñes, Dean Sarco, Richard A. Kaplan, Dennis Dlugos, Heidi E. Kirsch, Anne Slavotinek, Maria Roberta Cilio, Mackenzie C. Cervenka, Julie S. Cohen, Rebecca McClellan, Ali Fatemi, Amy Wong Ten Yuen, Yoshimi Sagawa, Rebecca O. Littlejohn, Scott D. McLean, Laura Hernandez‐Hernandez, Bridget H. Maher, Rikke S. Møller, Elizabeth E. Palmer, John A. Lawson, Colleen A. Campbell, Charuta Joshi, Diana L. Kolbe, Georgie Hollingsworth, Bernd A. Neubauer, Hiltrud Muhle, Ulrich Stephani, Ingrid E. Scheffer, Sérgio D.J. Pena, Sanjay M. Sisodiya, Ingo Helbig

    منشور في 2017
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  5. 5
    Mutation update for the <i>SATB2</i> gene

    Mutation update for the <i>SATB2</i> gene حسب Yuri A. Zárate, Katherine A. Bosanko, Aislling R. Caffrey, Jonathan A. Bernstein, Donna M. Martin, Marc S. Williams, Elizabeth Berry‐Kravis, Paul R. Mark, Melanie A. Manning, Vikas Bhambhani, Marcelo Alves Vargas, Andrea Seeley, Juvianee Estrada‐Veras, Marieke F. van Dooren, Maria Schwab, Adeline Vanderver, Daniela Melis, Adnan Alsadah, Laurie S. Sadler, Hilde Van Esch, Bert Callewaert, Ann Oostra, Jane MacLean, Maria Lisa Dentici, Valeria Orlando, Mark Lipson, Steven Sparagana, Timothy J. Maarup, Suzanne Alsters, Ariel Brautbar, Eliana Kovitch Thropp, Sakkubai Naidu, Melissa Lees, Douglas M. Smith, Lesley Turner, Víctor Raggio, Lucía Spangenberg, Sixto García‐Miñaúr, Elizabeth Roeder, Rebecca O. Littlejohn, Dorothy K. Grange, Jean P. Pfotenhauer, Marilyn C. Jones, Meena Balasubramanian, Antonio Federico Martínez‐Monseny, Lot Snijders Blok, Ralitza Gavrilova, Jennifer L. Fish

    منشور في 2019
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    Revisão
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  6. 6
    De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

    De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith... حسب Francesco Vetrini, Shane McKee, Jill A. Rosenfeld, Mohnish Suri, Andrea M. Lewis, Kimberly Nugent, Elizabeth Roeder, Rebecca O. Littlejohn, Sue Holder, Wenmiao Zhu, Joseph T. Alaimo, Brett H. Graham, Jill M. Harris, James B. Gibson, Matthew Pastore, Kim L. McBride, Makanko Komara, Lihadh Al‐Gazali, Aisha Al Shamsi, Elizabeth A. Fanning, Klaas J. Wierenga, Daryl A. Scott, Ziva Ben‐Neriah, Vardiella Meiner, Hanoch Cassuto, Orly Elpeleg, J. Lloyd Holder, Lindsay C. Burrage, Laurie H. Seaver, Lionel Van Maldergem, Sonal Mahida, Janet S. Soul, Margaret Marlatt, Ludmila Matyakhina, Julie Vogt, June-Anne Gold, Soo-Mi Park, Vinod Varghese, Anne Katrin Lampe, Ajith Kumar, Melissa Lees, Muriel Holder‐Espinasse, Vivienne McConnell, Birgitta Bernhard, Ed Blair, Victoria Harrison, Donna M. Muzny, Richard A. Gibbs, Sarah H. Elsea, Jennifer E. Posey, Weimin Bi, Seema R. Lalani, Fan Xia, Yaping Yang, Christine M. Eng, James R. Lupski, Pengfei Liu

    منشور في 2019
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  7. 7
    Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

    Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features حسب Teresa Santiago‐Sim, Lindsay C. Burrage, Frédéric Ebstein, Mari Tokita, Marcus J. Miller, Weimin Bi, Alicia Braxton, Jill A. Rosenfeld, Maher Shahrour, Andrea Lehmann, Benjamin Cogné, Sébastien Küry, Thomas Besnard, Bertrand Isidor, Stéphane Bézieau, Isabelle Hazart, Honey Nagakura, LaDonna Immken, Rebecca O. Littlejohn, Elizabeth Roeder, Bülent Kara, Katia Hardies, Sarah Weckhuysen, Patrick May, Johannes R. Lemke, Orly Elpeleg, Bassam Abu‐Libdeh, Kiely N. James, Jennifer L. Silhavy, Mahmoud Y. Issa, Maha S. Zaki, Joseph G. Gleeson, John R. Seavitt, Mary E. Dickinson, M. Cecilia Ljungberg, Sara Wells, Sara Johnson, Lydia Teboul, Christine M. Eng, Yaping Yang, Peter‐Michael Kloetzel, Jason D. Heaney, Magdalena Walkiewicz, Zaid Afawi, Rudi Balling, Nina Barišić, Stéphanie Baulac, Dana Craiu, Peter De Jonghe, Rosa Guerrero, Renzo Guerrini, Ingo Helbig, Helle Hjalgrim, Johanna Jähn, Karl Martin Klein, Eric LeGuern, Holger Lerche, Carla Marini, Hiltrud Muhle, Felix Rosenow, José M. Serratosa, Katalin Štěrbová, Arvid Suls, Rikke S. Møller, Pasquale Striano, Yvonne G. Weber, Federico Zara

    منشور في 2017
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  8. 8
    De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

    De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder حسب Margot R.F. Reijnders, Kerry A. Miller, Mohsan Alvi, Jacqueline A.C. Goos, Melissa Lees, Anna de Burca, Alex Henderson, Alison Kraus, Barbara Mikat, Bert B.A. de Vries, Bertrand Isidor, Bronwyn Kerr, Carlo Marcelis, Caroline Schluth–Bolard, Charu Deshpande, Claudia Ruivenkamp, Dagmar Wieczorek, Diana Baralle, Edward Blair, Hartmut Engels, Hermann‐Josef Lüdecke, Jacqueline Eason, Gijs W.E. Santen, Jill Clayton‐Smith, Kate Chandler, Katrina Tatton‐Brown, Katelyn Payne, Katherine L. Helbig, Kelly Radtke, Kimberly Nugent, Kirsten Cremer, Tim M. Strom, Lynne M. Bird, Margje Sinnema, Maria Bitner‐Glindzicz, Marieke F. van Dooren, Mariëlle Alders, Marion Koopmans, Lauren Brick, Mariya Kozenko, Megan L. Harline, Merel Klaassens, Michelle Steinraths, Nicola Cooper, Patrick Edery, Patrick Yap, Paulien A. Terhal, Peter J. van der Spek, Phillis Lakeman, Rachel L. Taylor, Rebecca O. Littlejohn, Rolph Pfundt, Saadet Mercimek‐Andrews, Alexander P.A. Stegmann, Sarina G. Kant, Scott D. McLean, Shelagh Joss, Sigrid M.A. Swagemakers, Sofia Douzgou, Steven A. Wall, Sébastien Küry, Eduardo Calpena, Nils Koelling, Simon J. McGowan, Stephen R.F. Twigg, Irene M.J. Mathijssen, Christoffer Nellåker, Han G. Brunner, Andrew O.M. Wilkie

    منشور في 2018
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  9. 9
    Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

    Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins حسب Przemysław Szafrański, Tomasz Gambin, Avinash V. Dharmadhikari, Kadir C. Akdemir, Shalini N. Jhangiani, Jennifer Schuette, Nihal Godiwala, Svetlana A. Yatsenko, Jessica Sebastian, Suneeta Madan‐Khetarpal, Urvashi Surti, Rosanna Abellar, David Bateman, Ashley Wilson, Melinda H. Markham, Jill Slamon, Fernando Santos‐Simarro, María Palomares‐Bralo, Julián Nevado, Pablo Lapunzina, Brian Hon‐Yin Chung, Wai-Lap Wong, Yoyo Wing Yiu Chu, Gary Tsz Kin Mok, Eitan Kerem, Joel Reiter, Namasivayam Ambalavanan, Scott Anderson, David R. Kelly, Joseph T.C. Shieh, Taryn C. Rosenthal, Kristin Scheible, Laurie A. Steiner, M. Anwar Iqbal, Margaret L. McKinnon, Sara Hamilton, Kamilla Schlade‐Bartusiak, D. W. English, Glenda Hendson, Elizabeth Roeder, Thomas S. DeNapoli, Rebecca O. Littlejohn, Daynna J. Wolff, Carol L. Wagner, Alison Yeung, David Francis, Elizabeth K. Fiorino, Morris Edelman, Joyce E. Fox, Denise A. Hayes, Sandra Janssens, Elfride De Baere, Björn Menten, Anne Loccufier, Lieve Vanwalleghem, Philippe Moerman, Yves Sznajer, Amy S. Lay, Jennifer Kussmann, Jasneek Chawla, Diane Payton, Gael E. Phillips, Erwin Brosens, Dick Tibboel, Annelies de Klein, Isabelle Maystadt, Richard Fisher, Neil J. Sebire, Alison Male, Maya Chopra, Jason Pinner, Girvan Malcolm, Gregory B. Peters, Susan Arbuckle, Melissa Lees, Zoe Mead, Oliver Quarrell, Richard Sayers, Martina Owens, Charles Shaw‐Smith, Janet Lioy, Eileen McKay, Nicole de Leeuw, Ilse Feenstra, Liesbeth Spruijt, Frances Elmslie, Timothy Thiruchelvam, Carlos A. Bacino, Claire Langston, James R. Lupski, Partha Sen, Edwina J. Popek, Paweł Stankiewicz

    منشور في 2016
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  10. 10
    Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

    Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly حسب Daniela A. Braun, Jia Rao, Géraldine Mollet, David Schapiro, Marie-Claire Daugeron, Weizhen Tan, Olivier Gribouval, Olivia Boyer, Patrick Revy, Tilman Jobst‐Schwan, Johanna Magdalena Schmidt, Jennifer A. Lawson, Denny Schanze, Shazia Ashraf, Jeremy F.P. Ullmann, Charlotte A. Hoogstraten, Nathalie Boddaert, Bruno Collinet, Gaëlle Martin, Dominique Liger, Svjetlana Lovric, Mónica Furlano, Ida Chiara Guerrera, Oraly Sanchez-Ferras, Jennifer Hu, Anne‐Claire Boschat, Sylvia Sanquer, Björn Menten, Sarah Vergult, Nina De Rocker, Merlin Airik, Tobias Hermle, Shirlee Shril, Eugen Widmeier, Heon Yung Gee, Won‐Il Choi, Carolin E. Sadowski, Werner L. Pabst, Jillian K. Warejko, Ankana Daga, Tamara Basta, Verena Matejas, Karin Scharmann, Sandra D. Kienast, Babak Behnam, Brendan Beeson, Amber Begtrup, M. Bruce, Gaik-Siew Ch’ng, Shuan‐Pei Lin, Jui-Hsing Chang, Chao‐Huei Chen, Megan T. Cho, Patrick M. Gaffney, Patrick Gipson, Chyong-Hsin Hsu, Jameela A. Kari, Yu-Yuan Ke, Cathy Kiraly‐Borri, Wai-ming Lai, Emmanuelle Lemyre, Rebecca O. Littlejohn, Amira Masri, Mastaneh Moghtaderi, Kazuyuki Nakamura, Fatih Özaltın, Marleen Praet, Chitra Prasad, Agnieszka Prytula-Ebels, Elizabeth Roeder, Patrick Rump, Rhonda E. Schnur, Takashi Shiihara, Manish D. Sinha, Neveen A. Soliman, Kenza Soulami, David A. Sweetser, Wen‐Hui Tsai, Jeng-Daw Tsai, Rezan Topaloĝlu, Udo Vester, David H. Viskochil, Nithiwat Vatanavicharn, Jessica L. Waxler, Klaas J. Wierenga, Matthias T. F. Wolf, Sik-Nin Wong, Sebastian A. Leidel, Gessica Truglio, Peter C. Dedon, Annapurna Poduri, Shrikant Mane, Richard P. Lifton, Maxime Bouchard, Pekka Kannus, David Chitayat, Daniella Magen, Bert Callewaert, Herman van Tilbeurgh, Martin Zenker

    منشور في 2017
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  11. 11
    Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

    Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability حسب María del Rocío Pérez Baca, Eva Jacobs, Lies Vantomme, Pontus Leblanc, Elke Bogaert, Annelies Dheedene, Laurenz De Cock, Sadegheh Haghshenas, Aidin Foroutan, Michael A. Levy, Jennifer Kerkhof, Haley McConkey, Chun‐An Chen, Nurit Assia Batzir, Xia Wang, María Palomares‐Bralo, Marieke Carels, Pankaj B. Agrawal, Daryl A. Scott, Elizabeth Barkoudah, Melissa Bellini, Claire Bénéteau, Kathrine Bjørgo, Alice S. Brooks, Natasha J. Brown, Alison M. R. Castle, Diana Castro, Odelia Chorin, Mark Cleghorn, Emma Clement, David Coman, Carrie Costin, Koenraad Devriendt, Daixing Dong, Annika M. Dries, Tina Duelund Hjortshøj, David A. Dyment, Christine M. Eng, Casie A. Genetti, Siera Grano, Peter Henneman, Delphine Héron, Katrin Hoffmann, Jason Hom, Haowei Du, Maria Iascone, Bertrand Isidor, Irma Järvelä, Julie R. Jones, Boris Keren, Mary Kay Koenig, Jürgen Kohlhase, Seema R. Lalani, Cédric Le Caignec, Andrew Lewis, Pengfei Liu, Alysia Kern Lovgren, James R. Lupski, Mike Lyons, Philippe A. Lysy, Melanie Manning, Carlo Marcelis, Scott McLean, Sandra Mercie, Mareike Mertens, Arnaud Molin, Mathilde Nizon, Kimberly Nugent, Susanna Öhman, Melanie O’Leary, Rebecca O. Littlejohn, Florence Petit, Rolph Pfundt, Lorraine Pottocki, Annick Raas‐Rotschild, Kara Ranguin, Nicole Revençu, Jill A. Rosenfeld, Lindsay Rhodes, Fernando Santos Simmaro, Karen Sals, Jolanda Schieving, Isabelle Schrauwen, Janneke Schuurs-Hoeijmakers, Eleanor G. Seaby, Ruth Sheffer, Lot Snijders Blok, Kristina P. Sørensen, Siddharth Srivastava, Zornitza Stark, Radka Stoeva, Chloe Stutterd, Natalie B. Tan, Pernille Mathiesen Tørring, Olivier Vanakker, Liselot van der Laan, Athina Ververi, Pablo Villavicencio‐Lorini, Marie Vincent, Dorothea Wand

    منشور في 2024
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