Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Miriam Fanjul-Fernández"'
Autor:
Kiymet Bozaoglu, Yujing Gao, Edouard Stanley, Miriam Fanjul-Fernández, Natasha J. Brown, Kate Pope, Cherie C. Green, Katerina Vlahos, Koula Sourris, Melanie Bahlo, Martin Delatycki, Ingrid Scheffer, Paul J. Lockhart
Publikováno v:
Stem Cell Research, Vol 39, Iss , Pp - (2019)
We have generated and characterized seven human induced pluripotent stem cell (iPSC) lines derived from peripheral blood mononuclear cells (PBMCs) from a single family, including unaffected and affected individuals clinically diagnosed with Autism Sp
Externí odkaz:
https://doaj.org/article/7d85cf9b4a764a35955099983a2154e6
Autor:
Greta Gillies, Keri Finlay, Hayley S. Mountford, Peter Hickey, Ingrid E. Scheffer, Vesna Lukic, Bradley P. Coe, Kiymet Bozaoglu, Melanie Bahlo, Haloom Rafehi, Audrey Rattray, Paul J. Lockhart, Natasha J Brown, Dana Alhuzaimi, Tanya Vick, Miriam Fanjul-Fernández, Cherie C Green, Sarah J. Wilson, Martin B. Delatycki, Savannah Young, Evan E. Eichler, Peter Diakumis
Publikováno v:
Hum Mutat
Autism spectrum disorders (ASD) are neurodevelopmental disorders with an estimated heritability of >60%. Family-based genetic studies of ASD have generally focused on multiple small kindreds, searching for de novo variants of major effect. We hypothe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1061e3918e4b875e007635c67e625a48
https://europepmc.org/articles/PMC8720068/
https://europepmc.org/articles/PMC8720068/
Autor:
Chloe A Stutterd, Miriam Fanjul-Fernández, Moira Blyth, Tiong Yang Tan, Victoria Rodriguez-Casero, Simon Sadedin, Paul J. Lockhart, Ian Craven, Daniel Warren, John H. Livingston, Adeline Vanderver, John Christodoulou, Gayatri Vadlamani, Ian R. Berry, Jonathan B Ruddle, Guy M. Lenk, Susan M. White, Susan Gibb, Lydia Green, Richard J. Leventer, Olga Skibina, Miriam H. Meisler, Cas Simons
Publikováno v:
Human Mutation. 40:619-630
The lipid phosphatase gene FIG4 is responsible for Yunis-Varon syndrome and Charcot-Marie-Tooth disease Type 4J, a peripheral neuropathy. We now describe four families with FIG4 variants and prominent abnormalities of central nervous system (CNS) whi
Autor:
Rachel Stapleton, Natalie B Tan, Belinda Chong, Gemma R Brett, Justine Elliott, Sebastian Lunke, Dean Phelan, Matthew F. Hunter, Alison Yeung, Susan M. White, Jessica R. Riseley, Zornitza Stark, Anna Jarmolowicz, Tiong Yang Tan, Melissa Martyn, S Kumble, Yael Prawer, Stephanie Best, Clara Gaff, Matthew Regan, Miriam Fanjul-Fernández, Justine E. Marum
Publikováno v:
Genetics in Medicine. 20:1554-1563
The purpose of the study was to implement and prospectively evaluate the outcomes of a rapid genomic diagnosis program at two pediatric tertiary centers. Rapid singleton whole-exome sequencing (rWES) was performed in acutely unwell pediatric patients
Autor:
Anna Jansen, Paul J. Lockhart, Simone Mandelstam, Kate Pope, Katrien Stouffs, Stefanie Brock, George McGillivray, Martin B. Delatycki, Richard J. Leventer, Chloe A Stutterd, Miriam Fanjul-Fernández
Publikováno v:
Brain Communications
Polymicrogyria is a malformation of cortical development characterized by overfolding and abnormal lamination of the cerebral cortex. Manifestations include epilepsy, speech disturbance and motor and cognitive disability. Causes include acquired pren
Autor:
Paul J. Lockhart, Greta Gillies, Martin B. Delatycki, Peter Hickey, Cherie C Green, Tarishi Desai, P Hewson, Sarah J. Wilson, Catherine J. Bromhead, Natasha J Brown, Tanya Vick, Vicki Anderson, Krysta J Trevis, Elizabeth A. Fitzpatrick, Hayley S. Mountford, Miriam Fanjul-Fernández, Lavinia Gordon, Ingrid E. Scheffer
Families comprising many individuals with Autism Spectrum Disorder (ASD) may carry a dominant predisposing mutation. Our aim was to use rigorous phenotyping of the ‘Broader Autism Phenotype’ (BAP) in large multiplex ASD families to identify endop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c89b9f9100c3c994f40f8547fbcf9c17
Autor:
Martin B. Delatycki, Tiong Yang Tan, Belinda Chong, Natasha J Brown, Susan M. White, Chloe A Stutterd, Miriam Fanjul-Fernández, Natalie P. Thorne, Justine E. Marum, Vanessa Siva Kumar, Sebastian Lunke, Alison Yeung, Clara Gaff, Dean Phelan, Ilias Goranitis, Zornitza Stark, Melissa Martyn, Simon Sadedin
Publikováno v:
Eur J Hum Genet
Diagnostic exome sequencing (ES) can be performed on the proband only (singleton; sES) or with additional samples, often including both biological parents with the proband (trio; tES). In this study we sought to compare the efficiencies of exome sequ
Autor:
Greta Gillies, Melanie Bahlo, Hanna van Roozendaal, William Maixner, Joe Chou Hung Sim, Julian Ik-Tsen Heng, Simone Mandelstam, Richard J. Leventer, Kate Pope, Paul J. Lockhart, Lakshminarayanan Kannan, Duncan MacGregor, Jessica R. Riseley, Miriam Fanjul-Fernández, Peter B. Crino, Martin B. Delatycki, Thomas S. Scerri, David J. Amor, George McGillivray, Simon Harvey
Publikováno v:
Annals of Neurology. 79:132-137
We describe first cousin sibling pairs with focal epilepsy, one of each pair having focal cortical dysplasia (FCD) IIa. Linkage analysis and whole-exome sequencing identified a heterozygous germline frameshift mutation in the gene encoding nitrogen p
Autor:
Michael C Fahey, David J. Amor, John Christodoulou, Maina P. Kava, Rocio Rius, Mary Kay Koenig, Shanti Balasubramaniam, Gregory M. Enns, Lisa G. Riley, Alison G. Compton, Tiong Yang Tan, Mark J. Cowley, Miriam Fanjul-Fernández, Nicole J Van Bergen, Simon Sadedin, David R. Thorburn, Meredith Wilson
Publikováno v:
Journal of Clinical Medicine, Vol 8, Iss 11, p 2020 (2019)
Journal of Clinical Medicine; Volume 8; Issue 11; Pages: 2020
Journal of Clinical Medicine; Volume 8; Issue 11; Pages: 2020
PNPT1 (PNPase—polynucleotide phosphorylase) is involved in multiple RNA processing functions in the mitochondria. Bi-allelic pathogenic PNPT1 variants cause heterogeneous clinical phenotypes affecting multiple organs without any established genotyp
Autor:
Olivia García-Suárez, Ana Gutiérrez-Fernández, Aurora Astudillo, Paolo Tortorella, Antonio Fueyo, Carlos López-Otín, Dylan R. Edwards, Christopher M. Overall, Caroline J. Pennington, Jennifer H. Cox, Alicia R. Folgueras, Miriam Fanjul-Fernández, Cristina Campestre
Publikováno v:
The Journal of biological chemistry. 293(30)
Matrix metalloproteinases (MMPs) have been implicated in a variety of human diseases, including neuroimmunological disorders such as multiple sclerosis. However, the recent finding that some MMPs play paradoxical protective roles in these diseases ha