Søgeresultater - Meriel McEntagart

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  1. 1
    De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

    De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome af Wendy D. Jones, Dimitra Dafou, Meriel McEntagart, Wesley J. Woollard, Frances Elmslie, Muriel Holder‐Espinasse, Melita Irving, Anand Saggar, Sarah Smithson, Richard C. Trembath, Charu Deshpande, Michael A. Simpson

    Udgivet 2012
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  2. 2
    <i>TRPV4</i> mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies

    <i>TRPV4</i> mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies af Christopher J. Klein, Yong Shi, Faisal Fecto, Michael Donaghy, Garth A. Nicholson, Meriel McEntagart, Andrew H. Crosby, Yanhong Wu, H. Lou, Kathleen M. McEvoy, Teepu Siddique, Han‐Xiang Deng, P. James B. Dyck

    Udgivet 2011
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  3. 3
    Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria

    Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria af Mary O’Driscoll, Sarah B. Daly, Jill Urquhart, Graeme Black, Daniela T. Pilz, Knut Brockmann, Meriel McEntagart, Ghada M. H. Abdel‐Salam, Maha S. Zaki, Nicole I. Wolf, Roger L. Ladda, Susan L. Sell, Stefano D’Arrigo, Waney Squier, William B. Dobyns, John H. Livingston, Yanick J. Crow

    Udgivet 2010
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  4. 4
    Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

    Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies af M. Zimoń, Jonathan Baets, Michaela Auer‐Grumbach, José Berciano, Antonio Garcı́a, Eduardo López‐Laso, Luciano Merlini, David Hilton‐Jones, Meriel McEntagart, Andrew H. Crosby, Nina Barišić, Eugen Boltshauser, Christopher E. Shaw, Guida Landouré, Christy L. Ludlow, Rachelle Gaudet, Henry Houlden, Mary M. Reilly, Kenneth H. Fischbeck, Charlotte J. Sumner, Vincent Timmerman, Albena Jordanova, Peter De Jonghe

    Udgivet 2010
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  5. 5
    Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment

    Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment af Cemre Celen, Jen‐Chieh Chuang, Xin Luo, Nadine Nijem, Angela K. Walker, Fei Chen, Shuyuan Zhang, Andrew Chung, Liem H. Nguyen, Ibrahim Nassour, Albert Budhipramono, Xuxu Sun, Levinus A. Bok, Meriel McEntagart, Evelien Gevers, Shari G. Birnbaum, Amelia J. Eisch, Craig M. Powell, Woo‐Ping Ge, Gijs W.E. Santen, Maria H. Chahrour, Hao Zhu

    Udgivet 2017
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  6. 6
    Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

    Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy af Pia Østergaard, Michael A. Simpson, Antonella Mendola, Pradeep Vasudevan, Fiona Connell, Andreas van Impel, Anthony T. Moore, Bart Loeys, Arash Ghalamkarpour, Alexandros Onoufriadis, Inés Martínez‐Corral, Sophie Devery, Jules G. Leroy, Lut Van Laer, Amihood Singer, Martin G. Bialer, Meriel McEntagart, Oliver Quarrell, Glen Brice, Richard C. Trembath, Stefan Schulte‐Merker, Taija Mäkinen, Miikka Vikkula, Peter Mortimer, Sahar Mansour, Steve Jeffery

    Udgivet 2012
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  7. 7
    Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

    Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis af Gaurav V. Harlalka, Anna Lehman, Barry A. Chioza, Emma L. Baple, Reza Maroofian, Harold E. Cross, Ajith Sreekantan-Nair, David A. Priestman, Saeed Al-Turki, Meriel McEntagart, Christos Proukakis, Louise Royle, Radoslaw P. Kozak, Lailá Bastaki, Michael A. Patton, Karin Wagner, Roselyn Coblentz, Joy Price, Michelle M. Mezei, Kamilla Schlade‐Bartusiak, Frances M. Platt, Matthew E. Hurles, Andrew H. Crosby

    Udgivet 2013
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  8. 8
    Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

    Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C af Michaela Auer‐Grumbach, Andrea Olschewski, Lea Papić, Hannie Kremer, Meriel McEntagart, Sabine Uhrig, Carina Fischer, Eleonore Fröhlich, Zoltán Bálint, Bi Tang, Heimo Strohmaier, Hanns Lochmüller, Beate Schlotter‐Weigel, Jan Senderek, Angelika Krebs, Katherine Dick, Richard Petty, Cheryl Longman, Neil E. Anderson, George W. Padberg, Helenius J. Schelhaas, Conny M.A. van Ravenswaaij‐Arts, Thomas R. Pieber, Andrew H. Crosby, Christian Guelly

    Udgivet 2009
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  9. 9
    Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

    Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability af Paul R. Kasher, Katherine E. Schertz, Megan Thomas, Adam Jackson, Silvia Annunziata, María Juliana Ballesta‐Martínez, Philippe M. Campeau, Peter Clayton, Jennifer L. Eaton, Tiziana Granata, Encarna Guillén‐Navarro, Cristina Hernándo, Caroline E. Laverriere, Agne Liedén, Olaya Villa-Marcos, Meriel McEntagart, Ann Nordgren, Chiara Pantaleoni, Céline Pebrel‐Richard, Catherine Sarret, Francesca L. Sciacca, Ronnie Wright, Bronwyn Kerr, Eric Glasgow, Siddharth Banka

    Udgivet 2016
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  10. 10
    Clinical and genetic aspects of KBG syndrome

    Clinical and genetic aspects of KBG syndrome af 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

    Udgivet 2016
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  11. 11
    Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

    Expanding the phenotype of the X-linked BCOR microphthalmia syndromes af Nicola Ragge, Bertrand Isidor, Pierre Bitoun, Sylvie Odent, Irina Giurgea, Benjamin Cogné, Wallid Deb, Marie Vincent, Jessica Le Gall, Jenny Morton, Derek Lim, Guylène Le Meur, Celia Zazo Seco, Dimitra Zafeiropoulou, Dorine A. Bax, Petra Zwijnenburg, Ana Arteche‐López, Saoud Tahsin Swafiri, Ruth Cleaver, Meriel McEntagart, Usha Kini, William D. Newman, Carmen Ayuso, Marta Cortón, Yvan Herenger, Médéric Jeanne, Patrick Calvas, Nicolas Chassaing

    Udgivet 2018
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  12. 12
    Pathogenicity and selective constraint on variation near splice sites

    Pathogenicity and selective constraint on variation near splice sites af Jenny Lord, Giuseppe Gallone, Patrick Short, Jeremy F. McRae, Holly Ironfield, Elizabeth Wynn, Sebastian S. Gerety, Liu He, Bronwyn Kerr, Diana Johnson, Emma McCann, Esther Kinning, Frances Flinter, I. Karen Temple, Jill Clayton‐Smith, Meriel McEntagart, Sally Ann Lynch, Shelagh Joss, Sofia Douzgou, Tabib Dabir, Virginia Clowes, Vivienne McConnell, Wayne Lam, Caroline F. Wright, David Fitzpatrick, Helen V. Firth, Jeffrey C. Barrett, Matthew E. Hurles

    Udgivet 2018
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  13. 13
    Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

    Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders af Ian M. Campbell, Bo Yuan, Caroline Robberecht, Rolph Pfundt, Przemysław Szafrański, Meriel McEntagart, Sandesh C.S. Nagamani, Ayelet Erez, Magdalena Bartnik, Barbara Wiśniowiecka‐Kowalnik, Katie Plunkett, Amber N. Pursley, Sung-Hae L. Kang, Weimin Bi, Seema R. Lalani, Carlos A. Bacino, Mala Vast, Karen Marks, Michael A. Patton, Peter Olofsson, Ankita Patel, Joris A. Veltman, S.W. Cheung, Chad A. Shaw, Lisenka E.L.M. Vissers, Joris Vermeesch, James R. Lupski, Paweł Stankiewicz

    Udgivet 2014
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  14. 14
    Clinical spectrum of POLR3-related leukodystrophy caused by biallelic <i>POLR1C</i> pathogenic variants

    Clinical spectrum of POLR3-related leukodystrophy caused by biallelic <i>POLR1C</i> pathogenic variants af Laurence Gauquelin, Ferdy Kurniawan Cayami, László Sztriha, Grace Yoon, Luan T. Tran, Kether Guerrero, François Hocke, Rosalina M.L. van Spaendonk, Eva Fung, Stefano D’Arrigo, Gessica Vasco, Isabelle Thiffault, Dmitriy Niyazov, Richard Person, Kara Stuart Lewis, Evangeline Wassmer, Trine Prescott, Penny Fallon, Meriel McEntagart, Julia Rankin, Richard Webster, Heike Philippi, Bart van de Warrenburg, Dagmar Timmann, Abhijit Dixit, Claire Searle, Nivedita Thakur, Michael C. Kruer, Suvasini Sharma, Adeline Vanderver, Davide Tonduti, Marjo S. van der Knaap, Enrico Bertini, Cyril Goizet, Sébastien Fribourg, Nicole I. Wolf, Geneviève Bernard

    Udgivet 2019
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  15. 15
    A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

    A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect af Meriel McEntagart, Kathleen A. Williamson, Jacqueline K. Rainger, Ann P. Wheeler, Anne Seawright, Elfride De Baere, Hannah Verdin, L. Therese Bergendahl, Alan J. Quigley, Joe Rainger, Abhijit Dixit, Ajoy Sarkar, Eduardo Laso, Rocío Sánchez‐Carpintero, Jesús Barrio‐Barrio, Pierre Bitoun, Trine Prescott, Ruth Riise, Shane McKee, Jackie Cook, Lisa McKie, Berten Ceulemans, Françoise Meire, I. Karen Temple, Fabienne Prieur, Jonathan Williams, Penny Clouston, Andrea H. Németh, Siddharth Banka, Hemant Bengani, Mark T. Handley, Elisabeth Freyer, Allyson Ross, Veronica van Heyningen, Joseph A. Marsh, Frances Elmslie, David Fitzpatrick

    Udgivet 2016
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  16. 16
    Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

    Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2 af Víctor Faúndes, Stephanie Goh, Rhoda Akilapa, Heidre Bezuidenhout, Hans T. Björnsson, Lisa Bradley, Angela F. Brady, Elise Brischoux‐Boucher, Han G. Brunner, Saskia Bulk, Natalie Canham, Declan Cody, Maria Lisa Dentici, M. Cristina Digilio, Frances Elmslie, Andrew E. Fry, Harinder Gill, Jane A. Hurst, Diana Johnson, Sophie Julia, Katherine Lachlan, Robert Roger Lebel, Melissa Byler, Eric Gershon, Edmond G. Lemire, Maria Gnazzo, Francesca Romana Lepri, Antonia Marchèse, Meriel McEntagart, Julie McGaughran, Seiji Mizuno, Nobuhiko Okamoto, Claudine Rieubland, Jonathan Rodgers, Erina Sasaki, Emmanuel Scalais, Ingrid Scurr, Mohnish Suri, Ineke van der Burgt, Naomichi Matsumoto, Noriko Miyake, Valérie Benoît, Damien Lederer, Siddharth Banka

    Udgivet 2021
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  17. 17
    Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution

    Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution af Zornitza Stark, Rebecca E. Foulger, Eleanor Williams, Bryony A. Thompson, Chirag Patel, Sebastian Lunke, Catherine Snow, Ivone Leong, Arina Puzriakova, Louise C. Daugherty, S. E. A. Leigh, C. R. Boustred, Olivia Niblock, Antonio Rueda-Martin, О. М. Герасименко, K. Savage, W. A. Bellamy, Victor San Kho Lin, Roman Valls, Lavinia Gordon, Helen Brittain, Ellen Thomas, Ana Lisa Taylor Tavares, Meriel McEntagart, Susan M. White, Tiong Yang Tan, Alison Yeung, Lilian Downie, Ivan Macciocca, Elena Savva, Crystle Lee, Ain Roesley, Paul De Fazio, Jane Deller, Zandra C. Deans, Sue Hill, Mark J. Caulfield, Kathryn N. North, Richard H. Scott, Augusto Rendon, Oliver Hofmann, Ellen M. McDonagh

    Udgivet 2021
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    Revisão
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  18. 18
    Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome

    Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome af Susan Walker, David J. Bunyan, Huw B. Thomas, Yeşim Kesim, Christopher J. Kershaw, John W. Holloway, Htoo A. Wai, Michael Day, Cassandra L. Smith, Gareth Hawkes, Andrew R. Wood, Michael N. Weedon, Ed Blair, Stephanie Curtis, Catherine Fielden, Julie Evans, Rebecca Whittington, Sarah Smithson, Helen Cox, Paul Clift, Meriel McEntagart, Matina Prapa, Suzanne Alsters, Deborah Morris‐Rosendahl, John Dean, Patrick J. Morrison, Abhijit Dixit, Ajoy Sarkar, Katrina Prescott, Leila Amel Riazat Kesh, Ravi Tharakan, Claire Turner, Sian Ellard, Charles Shaw‐Smith, James Fasham, Virginia Clowes, Simon Holden, Suresh Somarathi, Catherine Mercer, Ian Berry, Raymond T. O’Keefe, Siddharth Banka, Diana Baralle, Neil Thomas, Emma L. Baple, Jenny C. Taylor, Alistair T. Pagnamenta

    Udgivet 2025
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  19. 19
    How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

    How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum af Siddharth Banka, Ratna Veeramachaneni, William Reardon, Emma Howard, Sancha Bunstone, Nicola Ragge, Michael Parker, Yanick J. Crow, Bronwyn Kerr, Helen Kingston, Kay Metcalfe, Kate Chandler, Alex Magee, Fiona Stewart, Vivienne McConnell, Deirdre E. Donnelly, Siren Berland, Gunnar Houge, Jenny E.V. Morton, Christine Oley, Nicole Revençu, Soo-Mi Park, Sally Davies, Andrew E. Fry, Sally Ann Lynch, Harinder Gill, Susann Schweiger, Wayne Lam, John Tolmie, Shehla Mohammed, Emma Hobson, Audrey Smith, Moira Blyth, Christopher Bennett, Pradeep Vasudevan, Sixto García‐Miñaúr, Alex Henderson, Judith Goodship, Michael Wright, Richard Fisher, Richard J. Gibbons, Susan Price, Deepthi C. de Silva, I. Karen Temple, Amanda Collins, Katherine Lachlan, Frances Elmslie, Meriel McEntagart, Bruce Castle, Jill Clayton‐Smith, Graeme Black, Dian Donnai

    Udgivet 2011
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  20. 20
    Detailed Analysis of <scp><i>ITPR1</i></scp> Missense Variants Guides Diagnostics and Therapeutic Design

    Detailed Analysis of <scp><i>ITPR1</i></scp> Missense Variants Guides Diagnostics and Therapeutic Design af Jussi‐Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon J. McGowan, David Sims, Meriel McEntagart, Frances Elmslie, Debbie Shears, Helen Stewart, George K. Tofaris, Tabib Dabir, Patrick J. Morrison, Diana Johnson, Marios Hadjivassiliou, Sian Ellard, Charles Shaw‐Smith, Anna Znaczko, Abhijit Dixit, Mohnish Suri, Ajoy Sarkar, Rachel Harrison, Gabriela Jones, Henry Houlden, G Ceravolo, Joanna Jarvis, Jonathan Williams, Morag Shanks, Penny Clouston, Julia Rankin, Lubov Blumkin, Tally Lerman‐Sagie, Penina Ponger, Salmo Raskin, Katariina Granath, Johanna Uusimaa, Hector Conti, Emma McCann, Shelagh Joss, Alexander J. M. Blakes, Kay Metcalfe, Helen Kingston, M. Bertoli, Rachel Kneen, Sally Ann Lynch, Inmaculada Martínez Albaladejo, Austen Peter Moore, Wendy D. Jones, Esther B. E. Becker, Andrea H. Németh

    Udgivet 2023
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