Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Nicola S. Cooper"'
Autor:
Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López-Martín, Eva Bermejo-Sánchez, Beatriz Martínez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E. Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda H. Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina R. Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández-Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López-González, Lluís Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola S. Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange-Line Bruel, Frederic Tran Mau-Them, Alexis B.R. Maddocks, Jennifer M. Bain, Musadiq A. Bhat, Gregory Costain, Peter Kannu, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna-Cherchi, Bruno Lemaitre, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marjia Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)
Neural differentiation, synaptic transmission, and action potential propagation depend on membrane sphingolipids, whose metabolism is tightly regulated. Mutations in the ceramide transporter CERT (CERT1), which is involved in sphingolipid biosynthesi
Externí odkaz:
https://doaj.org/article/47a113198d5649e88315ddec99f2067f
Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation
Autor:
Gabriela Jones, Cheryl Stopford, Elisabeth Rosser, Katrina Merrifield, Henrietta Lefroy, Nicola S. Cooper, Lauren M Cairns, Sarah Buston, Andrew G L Douglas, Asma Hamad, Andrea H. Németh, Simon Holden, Julia Rankin, Vani Jain, Megan Rogers
Publikováno v:
Journal of Medical Genetics. 59:544-548
IntroductionMotor neuron disease (MND) and frontotemporal dementia (FTD) comprise a neurodegenerative disease spectrum. Genetic testing and counselling is complex in MND/FTD owing to incomplete penetrance, variable phenotype and variants of uncertain
Autor:
Edward McHale, Francis H. Sansbury, Ronnie Wright, Nicola S. Cooper, Naz Khan, Wim Van Paesschen, Hilde Van Esch, Zerin Hyder, Ataf Sabir, Siddharth Banka, Katherine B. Burke, Kate Chandler
Publikováno v:
Hyder, Z, Van Paesschen, W, Sabir, A, Sansbury, F H, Burke, K B, Khan, N, Chandler, K E, Cooper, N S, Wright, R, McHale, E, Van Esch, H & Banka, S 2021, ' ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy ', European journal of human genetics : EJHG . https://doi.org/10.1038/s41431-021-00815-y
European Journal of Human Genetics
European Journal of Human Genetics
ERBB4 encodes the tyrosine kinase receptor HER4, a critical regulator of normal cell function and neurodevelopmental processes in the brain. One of the key ligands of HER4 is neureglin-1 (NRG1), and the HER4-NRG1 signalling pathway is essential in ne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac65b51c5ec9bbbb38d082ed449862c7
https://www.research.manchester.ac.uk/portal/en/publications/erbb4-exonic-deletions-on-chromosome-2q34-in-patients-with-intellectual-disability-or-epilepsy(98162d49-0074-4597-b05c-1b2ce568204c).html
https://www.research.manchester.ac.uk/portal/en/publications/erbb4-exonic-deletions-on-chromosome-2q34-in-patients-with-intellectual-disability-or-epilepsy(98162d49-0074-4597-b05c-1b2ce568204c).html
Autor:
William L. Martin, Louise J. Whitticase, Nicola S. Cooper, Sheldon C. Cooper, Amanda Smith, Fiona L. Mackie
Publikováno v:
European Journal of Clinical Nutrition. 72:1176-1179
Adequate vitamin A is essential for healthy pregnancy, but high levels may be teratogenic. We present a patient who underwent bariatric surgery, prior to child bearing, and suffered maternal and foetal complications during eleven pregnancies, possibl
Autor:
Ceciel Van Hoeckel, Nicola S. Cooper, Rob P.W. Rouhl, Jeff L. Waugh, David Hunt, Dierk Niessing, Ton van Essen, Jolanda H. Schieving, Margo Whiteford, Maaike Vreeburg, Roger Foo, Christoffer Nellåker, Petra Laššuthová, Connie T.R.M. Stumpel, Victoria Mok Siu, Alexander P.A. Stegmann, Katinke Van Dijk, Servi J. C. Stevens, Jan Maarten Cobben, Levinus A. Bok, Paulo Selber, Katalin Sterbova, Rolph Pfundt, Han G. Brunner, Angeline H. M. Lai, Robert Janowski, Tuula Lönnqvist, Pirjo Isohanni, Jill Clayton-Smith, Diana Baralle, Sarah F. Smithson, Shelley Williams, Dorit Lev, Jana Neupauerová, Karen S. Carvalho, Margot R.F. Reijnders, Virginia Clowes, James J. Dowling, Ene-Choo Tan, Kate Chandler, Sahar Mansour, Andrew Green, Marc Engelen, Julia Rankin, Sotirios Keros, Mohsan Alvi, Jay E. Self, Eric Smeets, Ilene S. Ruhoy, Richard J. Leventer, Mel Anderson, Sofia Douzgou
Publikováno v:
Paediatrics Publications
Journal of Medical Genetics, 55, 2, pp. 104-113
Journal of Medical Genetics, 55, 104-113
J. Med. Genet. 55, 104-113 (2017)
Journal of Medical Genetics
Journal of Medical Genetics, 55, 2, pp. 104-113
Journal of Medical Genetics, 55, 104-113
J. Med. Genet. 55, 104-113 (2017)
Journal of Medical Genetics
BackgroundDe novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), epilepsy, feeding difficulties and neonatal hypotonia.ObjectivesTo delineate
Autor:
Nicola S. Cooper, Boris Keren, Jane Juusola, Melissa Lees, Meena Balasubramanian, Farah Kanani, Laura Pisani, Katherine Lachlan, Carolyn McKenna, Hannah Titheradge, Frances Elmslie, Stéphanie Valence, Cyril Mignot
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 182(4)
Developmental and Epileptic encephalopathies (DEE) describe heterogeneous epilepsy syndromes, characterized by early‐onset, refractory seizures and developmental delay (DD). Several DEE associated genes have been reported. With increased access to
Autor:
Josh Willoughby, Jenny Morton, Meena Balasubramanian, Francis H. Sansbury, Julie Vogt, Elizabeth A. Jones, Rory O'Sullivan, Jill Clayton-Smith, Sarah E. Turton, Helen Cox, Nicola S. Cooper, Katherine Lachlan, Julia Rankin, Frances Elmslie, Jessica A. Radley, Sarah F. Smithson
Publikováno v:
Clinical genetics. 95(4)
Whole-exome sequencing has established IQSEC2 as a neurodevelopmental disability gene. The IQSEC2 variant phenotype includes developmental delay, intellectual disability, epilepsy, hypotonia, autism, developmental regression, microcephaly and stereot
Autor:
Rolph Pfundt, Sarju G. Mehta, Amy Lawson Yuen, Gunnar Houge, Marie-Cécile Nassogne, Nicola S. Cooper, Bjørn Ivar Haukanes, Ingvild Aukrust, Siren Berland, Pradeep Vasudevan, Mónica Roselló, Stéphanie Moortgat, Nina Powell-Hamilton, Charlotte von der Lippe, Barbara van Loon, Ruth Newbury-Ecob, Alain Verloes, Laura A. Baker, Trine Prescott, Andrew O.M. Wilkie, Emma Wakeling, Ddd Study, Isabelle Maystadt, Francisco Martínez, Laurence Faivre, Alfonso Caro-Llopis, Karen J. Low, Emma Kivuva, François-Guillaume Debray, Thatjana Gardeitchik, Louise C. Wilson, Christine Verellen-Dumoulin, Valérie Benoit
Publikováno v:
European Journal of Human Genetics, 26, 64-74
European Journal of Human Genetics, Vol. 26, no. 1, p. 64-74 (2018)
EUROPEAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
European Journal of Human Genetics, 26, 1, pp. 64-74
European Journal of Human Genetics, Vol. 26, no. 1, p. 64-74 (2018)
EUROPEAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
European Journal of Human Genetics, 26, 1, pp. 64-74
Whole-gene duplications and missense variants in the HUWE1 gene (NM_031407.6) have been reported in association with intellectual disability (ID). Increased gene dosage has been observed in males with non-syndromic mild to moderate ID with speech del
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75c6a61c0cf0087763ade5cff5db7c09
http://hdl.handle.net/2066/183870
http://hdl.handle.net/2066/183870
Autor:
Helen Linden, Fredrik Karpe, Simon A. Rudge, Nicola S. Cooper, Thomas M. Barber, Martijn van de Bunt, Michael J.O. Wakelam, Lisa Walker, Qifeng Zhang, Jonathan C. Levy, Katherine Lachlan, Aparna Pal, Anna L. Gloyn
Publikováno v:
New England Journal of Medicine
New England Journal of Medicine; Vol 367
New England Journal of Medicine; Vol 367
BACKGROUND: Epidemiologic and genetic evidence links type 2 diabetes, obesity, and cancer. The tumor-suppressor phosphatase and tensin homologue (PTEN) has roles in both cellular growth and metabolic signaling. Germline PTEN mutations cause a cancer-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ace8f12564e17834302a3582bb87df5f
https://ora.ox.ac.uk/objects/uuid:f879e40f-b1ce-4bd8-9f8a-9b05e619160a
https://ora.ox.ac.uk/objects/uuid:f879e40f-b1ce-4bd8-9f8a-9b05e619160a
Autor:
Kamlesh Khunti, Melanie J. Davies, Laura J. Gray, Nicola S. Cooper, Hamidreza Mani, Felix A. Achana
Publikováno v:
PLoS ONE, Vol 10, Iss 9, p e0135702 (2015)
PLoS ONE
PLoS ONE
Background:\ud Screening for type 2 diabetes (T2DM) and individuals at risk of diabetes has been advocated, yet information on the response rate and diagnostic yield of different screening strategies are lacking.\ud \ud Methods:\ud Studies (from 1998