Arama Sonuçları - Nicola Foulds
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1
Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly Yazar: Eva Klopocki, Christian M. Kähler, Nicola Foulds, Hitesh Shah, Benjamin Joseph, Hermann Vogel, Sabine Lüttgen, R. Bald, Regina Besoke, Karsten R. Held, Stefan Mundlos, Ingo Kurth
Baskı/Yayın Bilgisi 2012Artigo -
2
Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome Yazar: Vardha Ismail, Linda G. Zachariassen, Annie Godwin, Mane Sahakian, Sian Ellard, Karen Stals, Emma L. Baple, Kate Tatton Brown, Nicola Foulds, Gabrielle Wheway, Matthew O. Parker, Signe Meisner Lyngby, Miriam G. Pedersen, Julie Désir, Allan Bayat, Maria Musgaard, Matthew Guille, Anders S. Kristensen, Diana Baralle
Baskı/Yayın Bilgisi 2022Artigo -
3
Analysis of Mutations in <i>AARS2</i> in a Series of <i>CSF1R</i>-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia Yazar: David S. Lynch, Wei Jia Zhang, Rahul Lakshmanan, Justin Kinsella, Güneş Altıokka Uzun, Merih Karbay, Zeynep Tüfekçıoğlu, Haşmet Hanağası, Georgina Burke, Nicola Foulds, Simon Hammans, Anupam Bhattacharjee, Heather Wilson, Matthew Adams, Mark Walker, James A. R. Nicoll, Jeremy Chataway, Nick C. Fox, Indran Davagnanam, Rahul Phadke, Henry Houlden
Baskı/Yayın Bilgisi 2016Artigo -
4
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature Yazar: Bert Callewaert, Bart Loeys, Anna Ficcadenti, Sascha Vermeer, Magnus Landgren, Hester Y. Kroes, Yuval Yaron, Michael Pope, Nicola Foulds, Odile Boute, Francisco Galán, Helen Kingston, Nathalie Van der Aa, Iratxe Salcedo, Mariëlle E.M. Swinkels, Carina Wallgren‐Pettersson, Orazio Gabrielli, Julie De Backer, Paul Coucke, Anne M. De Paepe
Baskı/Yayın Bilgisi 2008Revisão -
5
Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort Yazar: Gabrielle L. Davidson, Sinéad M. Murphy, James M. Polke, Matilde Laurá, Mustafa A. Salih, Francesco Muntoni, J. Blake, Sebastian Brandner, Nicholas Davies, Rita Horváth, Simon Price, Michael Donaghy, Michael W. Roberts, Nicola Foulds, Gita Ramdharry, Doriette Soler, Michael P. Lunn, Hadi Manji, Mary B. Davis, Henry Houlden, Mary M. Reilly
Baskı/Yayın Bilgisi 2012Artigo -
6
New NBIA subtype Yazar: Penelope Hogarth, Allison Gregory, Michael C. Kruer, Lynn Sanford, Wendy Wagoner, Marvin R. Natowicz, Robert T. Egel, S.H. Subramony, Jennifer G. Goldman, Elizabeth Berry‐Kravis, Nicola Foulds, Simon Hammans, Isabelle Desguerre, Diana Rodriguez, Callum Wilson, Andrea Diedrich, Sarah Green, Huong Tran, Lindsay C. Reese, Randall L. Woltjer, Susan J. Hayflick
Baskı/Yayın Bilgisi 2012Artigo -
7
Heterozygous mutations affecting the protein kinase domain of <i>CDK13</i> cause a syndromic form of developmental delay and intellectual disability Yazar: Mark Hamilton, Richard Caswell, Natalie Canham, Trevor Cole, Helen V. Firth, Nicola Foulds, Ketil Heimdal, Emma Hobson, Gunnar Houge, Shelagh Joss, Dhavendra Kumar, Anne Katrin Lampe, Isabelle Maystadt, Victoria McKay, Kay Metcalfe, Ruth Newbury‐Ecob, Soo‐Mi Park, Leema Robert, Cecilie F. Rustad, Emma Wakeling, Andrew O.M. Wilkie, The Deciphering Developmental Disor Study, Stephen R.F. Twigg, Mohnish Suri
Baskı/Yayın Bilgisi 2017Artigo -
8
Clinical and genetic aspects of KBG syndrome Yazar: Karen Low, Tazeen Ashraf, Natalie Canham, Jill Clayton‐Smith, Charu Deshpande, Alan Donaldson, Richard Fisher, Frances Flinter, Nicola Foulds, Alan Fryer, Kate Gibson, Ian Hayes, Alison Hills, Susan Holder, Melita Irving, Shelagh Joss, Emma Kivuva, Katherine Lachlan, Alex Magee, Vivienne McConnell, Meriel McEntagart, Kay Metcalfe, Tara Montgomery, Ruth Newbury‐Ecob, Fiona Stewart, Peter D. Turnpenny, Julie Vogt, David Fitzpatrick, Maggie Williams, Sarah Smithson
Baskı/Yayın Bilgisi 2016Artigo -
9
Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders Yazar: Lydie Bürglen, Evelien Van Hoeymissen, Leila Qebibo, Magalie Barth, Newell Belnap, Felix Boschann, Christel Depienne, Katrien De Clercq, Andrew G. L. Douglas, Mark P. Fitzgerald, Nicola Foulds, Cathérine Garel, Ingo Helbig, Katharina Held, Denise Horn, Annelies Janssen, Angela M. Kaindl, Vinodh Narayanan, Christina Prager, Mailys Rupin-Mas, Alexandra Afenjar, Siyuan Zhao, V. Ramaekers, Sarah M. Ruggiero, Simon Thomas, Stéphanie Valence, Lionel Van Maldergem, Tibor Rohács, Diana Rodriguez, David A. Dyment, Thomas Voets, Joris Vriens
Baskı/Yayın Bilgisi 2023Artigo -
10
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations Yazar: Veerle Rc Eggens, P. G. Barth, Jikke-Mien F. Niermeijer, Jonathan Berg, Niklas Darín, Abhijit Dixit, Joël Fluss, Nicola Foulds, Darren Fowler, Tibor Hortobágyi, Thomas S. Jacques, Mary D. King, Periklis Makrythanasis, Adrienn Máté, James A. R. Nicoll, Declan O’Rourke, Sue Price, Andrew N. Williams, Louise C. Wilson, Mohnish Suri, László Sztriha, Marit B Dijns-de Wissel, Mia T van Meegen, Fred van Ruissen, Eleonora Aronica, Dirk Troost, Charles B.L.M. Majoie, Henk A. Marquering, Bwee Tien Poll‐The, Frank Baas
Baskı/Yayın Bilgisi 2014Artigo -
11
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder Yazar: Eduardo Calpena, Alexia Hervieu, Teresa Kaserer, Sigrid M.A. Swagemakers, Jacqueline A.C. Goos, Olajumoke Adeniji-Popoola, María Jesús Ortiz-Ruiz, Tina Barbaro‐Dieber, Lucy Bownass, Eva H. Brilstra, Elise Brimble, Nicola Foulds, Theresa A. Grebe, Aster V. E. Harder, Melissa Lees, Kristin G. Monaghan, Ruth Newbury‐Ecob, Kai‐Ren Ong, Deborah Osio, Francis Jeshira Reynoso Santos, Maura Ruzhnikov, Aida Telegrafi, Ellen van Binsbergen, Marieke F. van Dooren, Peter J. van der Spek, Julian Blagg, Stephen R.F. Twigg, Irene M.J. Mathijssen, Paul A. Clarke, Andrew O.M. Wilkie
Baskı/Yayın Bilgisi 2019Artigo -
12
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families Yazar: Nadia Akawi, Jeremy F. McRae, Morad Ansari, Meena Balasubramanian, Moira Blyth, Angela F. Brady, Stephen Clayton, Trevor Cole, Charu Deshpande, Tomas Fitzgerald, Nicola Foulds, Richard Francis, George C. Gabriel, Sebastian S. Gerety, Judith Goodship, Emma Hobson, Wendy D. Jones, Shelagh Joss, Daniel A. King, Nikolai Klena, Ajith Kumar, Melissa Lees, Chris Lelliott, Jenny Lord, Dominic McMullan, Mary O’Regan, Deborah Osio, Virginia Piombo, Elena Prigmore, Diana Rajan, Elisabeth Rosser, Alejandro Sifrim, Audrey Smith, G. Jawahar Swaminathan, Peter D. Turnpenny, James W. Whitworth, Caroline F. Wright, Helen V. Firth, Jeffrey C. Barrett, Cecilia Lo, David Fitzpatrick, Matthew E. Hurles
Baskı/Yayın Bilgisi 2015Artigo -
13
Clinical delineation of the <i>PACS1</i>‐related syndrome—Report on 19 patients Yazar: Janneke Schuurs-Hoeijmakers, Megan Landsverk, Nicola Foulds, Mary K. Kukolich, Ralitza H. Gavrilova, Stephanie Greville‐Heygate, Andrea Hanson‐Kahn, Jonathan A. Bernstein, Jennifer Glass, David Chitayat, Thomas Andrew Burrow, Ammar Husami, Kathleen Collins, Katie Wusik, Nathalie Van der Aa, R. Frank Kooy, Kate Tatton Brown, Dorothea Gadzicki, Usha Kini, Sara Álvarez, Alberto Fernández‐Jaén, Frank T. McGehee, Katherine Selby, Maja Tarailo‐Graovac, Margot Van Allen, Clara van Karnebeek, Dimitri J. Stavropoulos, Christian R. Marshall, Daniele Merico, Anne Gregor, Christiane Zweier, Robert J. Hopkin, Yoyo W. Y. Chu, Brian Hon‐Yin Chung, Bert B.A. de Vries, Koenraad Devriendt, Matthew E. Hurles, Han G. Brunner
Baskı/Yayın Bilgisi 2016Artigo -
14
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy Yazar: Hong Joo Kim, Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O’Donovan, Maura Coughlin, Xavière Lornage, Nicola Foulds, Simon Hammans, A. Reghan Foley, Charlotte M. Fare, Alice F. Ford, Masashi Ogasawara, Aki Sato, Aritoshi Iida, Pinki Munot, Gautam Ambegaonkar, Rahul Phadke, Dominic G. O’Donovan, Rebecca Buchert, Mona Grimmel, Ana Töpf, Irina Zaharieva, Lauren Brady, Ying Hu, Thomas E. Lloyd, Andrea Klein, Maja Steinlin, Alice Kuster, Sandra Mercier, Pascale Marcorelles, Yann Péréon, Emmanuelle Fleurence, Adnan Manzur, Sarah Ennis, Rosanna Upstill‐Goddard, Luca Bello, Cinzia Bertolin, Elena Pegoraro, Leonardo Salviati, Courtney E. French, Andriy Shatillo, F. Lucy Raymond, Tobias B. Haack, Susana Quijano‐Roy, Johann Böhm, Isabelle Nelson, Tanya Stojkovic, Teresinha Evangelista, Volker Straub, Norma B. Romero, Jocelyn Laporte, Francesco Muntoni, Ichizo Nishino, Mark A. Tarnopolsky, James Shorter, Carsten G. Bönnemann, J. Paul Taylor
Baskı/Yayın Bilgisi 2022Artigo -
15
Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy Yazar: Daniel Greene, Koenraad De Wispelaere, Jonathan Lees, Marta Codina‐Solà, Brynjar Ö. Jensson, Emma Hales, Andrea Katrinecz, Esther Molina, Sónia Pascoal, Rolph Pfundt, Rachel Schot, Marta Sevilla Porras, Frank Sleutels, Irene Valenzuela, Robin Wijngaard, I. Arroyo Carrera, Giles Atton, Dídac Casas‐Alba, Deirdre E. Donnelly, Anna Duat Rodríguez, Barbara Fernández Garoz, Nicola Foulds, D. Nunez, Elena González Alguacil, Joanna Jarvis, Sarina G. Kant, Irene Madrigal, Antonio F. Martinez-Monseny, Shane McKee, Nelmar Valentina Ortiz‐Cabrera, Leslie Bodi, Andrea Sariego Jamardo, Kāri Stefánsson, Patrick Sulem, Mohnish Suri, Clara D.M. van Karnebeek, Pradeep Vasudevan, Ana Isabel Vega Pajares, Ãngel Carracedo, Marc Engelen, Pablo Lapunzina, Natasha P. Morgan, Beatriz Morte, Patrick Rump, Kathleen Stirrups, Eduardo F. Tizzano, Tahsin Stefan Barakat, Michael O’Donoghue, Luis A. Pérez‐Jurado, Kathleen Freson, Andrew Mumford, Ernest Turro
Baskı/Yayın Bilgisi 2025Artigo -
16
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome Yazar: Bregje W.M. van Bon, Heather C. Mefford, Björn Menten, David A. Koolen, Andrew J. Sharp, Willy M. Nillesen, Jeffrey W. Innis, Thomy de Ravel, Catherine L. Mercer, Marco Fichera, Helen Stewart, Louise Connell, Katrin Õunap, Katherine Lachlan, B. Castle, Nathalie Van der Aa, Conny van Ravenswaaij, Marcelo A. Nóbrega, Clara Serra‐Juhé, Ingrid Simonic, Nicole de Leeuw, Rolph Pfundt, Ernie M.H.F. Bongers, Carl Baker, P Finnemore, Shuwen Huang, V. Maloney, John A. Crolla, M van Kalmthout, Maurizio Elia, Geert Vandeweyer, J. P. Fryns, Sandra Janssens, Nicola Foulds, S Reitano, Kath Smith, Sven Parkel, Bart Loeys, C. Geoffrey Woods, Anna Oostra, Frank Speleman, Alexandre C. Pereira, Ants Kurg, Lionel Willatt, Samantha J.L. Knight, Joris Vermeesch, Corrado Romano, John Barber, Geert Mortier, Luis Alberto Pérez‐Jurado, R. Frank Kooy, Han G. Brunner, Evan E. Eichler, Tjitske Kleefstra, Bert B.A. de Vries
Baskı/Yayın Bilgisi 2009Artigo -
17
Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing Yazar: Rea M. Lardelli, Ashleigh E. Schaffer, Veerle Rc Eggens, Maha S. Zaki, Stephanie Grainger, Shashank Sathe, Eric L. Van Nostrand, Zinayida Schlachetzki, Başak Rosti, Naiara Akizu, Eric Scott, Jennifer L. Silhavy, Laura D. Heckman, Rasim Özgür Rosti, Esra Dikoglu, Anne Gregor, Alicia Guemez‐Gamboa, Damir Musaev, Rohit Mande, Ari Widjaja, Timothy Shaw, Sebastian Markmiller, Isaac Marin‐Valencia, Justin H. Davies, Linda De Meırleır, Hülya Kayserili, Umut Altunoğlu, Mary Louise Freckmann, Linda Warwick, David Chitayat, Susan Blasér, Ahmet Okay Çağlayan, Kaya Bilgüvar, Hüseyin Per, Christina Fagerberg, Henrik Thybo Christesen, Maria Kibæk, Kimberly A. Aldinger, David K. Manchester, Naomichi Matsumoto, Kazuhiro Muramatsu, Hirotomo Saitsu, Masaaki Shiina, Kazuhiro Ogata, Nicola Foulds, William B. Dobyns, C. Neil, David Traver, Luigina Spaccini, Stefania Maria Bova, Stacey B. Gabriel, Murat Günel, Enza Maria Valente, Marie‐Cécile Nassogne, Eric J. Bennett, G Yeo, Frank Baas, Jens Lykke‐Andersen, Joseph G. Gleeson
Baskı/Yayın Bilgisi 2017Artigo -
18
Congenital Titinopathy: Comprehensive characterization and pathogenic insights Yazar: Emily C. Oates, Kristi Jones, Sandra Donkervoort, Amanda Charlton, Susan Brammah, John E. Smith, James S. Ware, Kyle S. Yau, Lindsay C. Swanson, Nicola Whiffin, Anthony Peduto, Adam Bournazos, Leigh B. Waddell, Michelle A. Farrar, Hugo Sampaio, Hooi Ling Teoh, Phillipa J. Lamont, David Mowat, Robin B. Fitzsimons, Alastair Corbett, Monique M. Ryan, Gina O’Grady, Sarah A. Sandaradura, Roula Ghaoui, Himanshu Joshi, Jamie L. Marshall, Melinda Nolan, Simranpreet Kaur, Jaya Punetha, Ana Töpf, Elizabeth Harris, Madhura Bakshi, Casie A. Genetti, M. Marttila, Ulla Werlauff, Nathalie Streichenberger, Alan Pestronk, Ingrid Mazanti, Jason Pinner, Carole Vuillerot, Carla Grosmann, Ana Camacho, Payam Mohassel, M. Leach, A. Reghan Foley, Diana Bharucha‐Goebel, James J. Collins, Anne M. Connolly, Heather R. Gilbreath, Susan T. Iannaccone, Diana Castro, Beryl B. Cummings, Richard Webster, Leïla Lazaro, John Vissing, Sandra Coppens, Nicolas Deconinck, Ho‐Ming Luk, Neil H. Thomas, Nicola Foulds, Marjorie Illingworth, Sian Ellard, Catriona McLean, Rahul Phadke, Gianina Ravenscroft, Nanna Witting, Peter Hackman, Isabelle Richard, Sandra T. Cooper, Erik‐Jan Kamsteeg, Eric P. Hoffman, Kate Bushby, Volker Straub, Bjarne Udd, Ana Ferreiro, Kathryn N. North, Nigel F. Clarke, Monkol Lek, Alan H. Beggs, C. Bönnemann, Daniel G. MacArthur, Henk Granzier, Mark R. Davis, Nigel G. Laing
Baskı/Yayın Bilgisi 2018Artigo -
19
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants Yazar: Sayaka Kayumi, Luis A. Pérez‐Jurado, María Palomares‐Bralo, Sneha Rangu, Sarah E. Sheppard, Wendy K. Chung, Michael C. Kruer, Mira Kharbanda, David J. Amor, George McGillivray, Julie S. Cohen, Sixto García‐Miñaúr, Clare L. van Eyk, Kelly Harper, Lachlan A. Jolly, Dani L. Webber, Christopher Barnett, Fernando Santos‐Simarro, Marta Pacio‐Míguez, Ángela del Pozo, Somayeh Bakhtiari, Matthew A. Deardorff, Holly Dubbs, Kosuke Izumi, Katheryn Grand, Christopher Gray, Paul R. Mark, Elizabeth Bhoj, Dong Li, Xilma R. Ortiz‐González, Beth Keena, Elaine H. Zackai, Ethan M. Goldberg, Guiomar Pérez de Nanclares, Arrate Pereda, Isabel Llano‐Rivas, Ignacio Arroyo, María Ángeles Fernández-Cuesta, Christel Thauvin‐Robinet, Laurence Faivre, Aurore Garde, Benoît Mazel, Ange‐Line Bruel, Michael L. Tress, Eva H. Brilstra, Amena Smith Fine, Kylie Crompton, Alexander P.A. Stegmann, Margje Sinnema, Servi J.C. Stevens, Joost Nicolai, Gaëtan Lesca, Laurence Lion‐François, Damien Haye, Nicolas Chatron, Amélie Piton, Mathilde Nizon, Benjamin Cogné, Siddharth Srivastava, Jennifer A. Bassetti, Candace Muss, Karen W. Gripp, Rebecca Procopio, Francisca Millan, Michelle M. Morrow, Melissa Assaf, Andrés Moreno-De-Luca, Shelagh Joss, Mark Hamilton, M. Bertoli, Nicola Foulds, Shane McKee, Alastair H. MacLennan, Jozef Gécz, Mark Corbett
Baskı/Yayın Bilgisi 2022Artigo -
20
De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay Yazar: 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
Baskı/Yayın Bilgisi 2015Artigo
Arama Araçları:
İlgili Konular
Biology
Medicine
Genetics
Gene
Mutation
Phenotype
Exome sequencing
Missense mutation
Psychiatry
Disease
Epilepsy
Internal medicine
Neuroscience
Pathology
Anatomy
Environmental health
Genotype
Population
Proband
Psychology
Autism
Bioinformatics
Exome
Genetic heterogeneity
Hypoplasia
Hypotonia
Loss function
Neurodegeneration
Neurodevelopmental disorder
Nonsense mutation