Zobrazeno 1 - 10
of 114
pro vyhledávání: '"Tessa Homfray"'
Autor:
Rema Ramakrishnan, Corinne Mallinson, Steven Hardy, Jennifer Broughan, Maisie Blyth, Gabriella Melis, Catherine Franklin, Melissa Hill, Rhiannon Mellis, Wing Han Wu, Stephanie Allen, Lyn S. Chitty, Marian Knight, EXPRESS Clinical Outcomes Group, Ruth Armstrong, Tazeen Ashraf, Ana Beleza-Meireles, Marta Bertoli, Lucy Bownass, Jennifer Campbell, Natalie Canham, Ruth Cleaver, Jan Cobben, Jacqueline Eason, Nour Elkhateeb, Alice Gardham, Alice Garrett, Sara Hillman, Emma Hobson, Simon Holden, Muriel Holder-Espinasse, Tessa Homfray, Monika Kosicka-Slawinska, Alison Male, Sahar Mansour, Sarju G. Mehta, Cathryn Moss, Jessica Myring, Pranav Pandya, Katrina Prescott, Lorna Randall, Sarah Richardson, Alexander Ross, Alison Stewart, Dagmar Tapon, Hannah Titheradge, Pradeep Vasudevan, Astrid Weber, Louise Wilson
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
IntroductionPrenatal exome sequencing (pES) can enhance genetic diagnosis of fetuses with structural anomalies and has recently been introduced as a national service in England. We aimed to examine service outcomes such as diagnostic yield (definite
Externí odkaz:
https://doaj.org/article/1a67f11223b94bd2a89072f49c95ec47
Autor:
Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush, Katherine A. Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J. Maher, Loïc M. Thibaut, Jonathan Williams, Edward M. Blair, Fiona Blanco Kelly, Angela Bloss, Emma Burkitt-Wright, Natalie Canham, Alexander T. Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A. Hurst, Diana Johnson, Wendy D. Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa M. Lees, Harry G. Leitch, Jenny E. V. Morton, Andrea H. Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah J. Shears, Lucy Side, Miranda Splitt, Alison Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, Robert W. Davies, Andrew O. M. Wilkie, Anne Goriely
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-11 (2023)
PREGCARE is a new strategy for families who had a child with a pathogenic de novo mutation, that efficiently identifies couples at higher recurrence risk due to parental mosaicism, while reassuring many others that their recurrence risk is negligible
Externí odkaz:
https://doaj.org/article/092225fc6615446f96c5855f1911ddee
Autor:
Prina Rajani, MBBS, Jan Lukas Robertus, PhD, Joyce Wong, PhD, Tessa Homfray, MBBS, Fernando Riesgo Gil, MD, Mayooran Shanmuganathan, MBBS
Publikováno v:
JACC: Case Reports, Vol 2, Iss 5, Pp 760-763 (2020)
A young man presented with syncope. He was diagnosed with triglyceride deposit cardiomyovasculopathy and skeletal myopathy secondary to adipose triglyceride lipase (ATGL) deficiency. Despite optimal medical therapy, he required heart transplantation
Externí odkaz:
https://doaj.org/article/a5ba0c6d26a241e8acf825dd5189fb3d
Autor:
Lara Pemberton, Robert Barker, Anna Cockell, Vijaya Ramachandran, Andrea Haworth, Tessa Homfray
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-3 (2020)
Abstract Background Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on clinical and radiologic
Externí odkaz:
https://doaj.org/article/70c82e86fc7641de97de37ae7f537c28
Autor:
Katrina Tatton-Brown, Anna Zachariou, Chey Loveday, Anthony Renwick, Shazia Mahamdallie, Lise Aksglaede, Diana Baralle, Daniela Barge-Schaapveld, Moira Blyth, Mieke Bouma, Jeroen Breckpot, Beau Crabb, Tabib Dabir, Valerie Cormier-Daire, Christine Fauth, Richard Fisher, Blanca Gener, David Goudie, Tessa Homfray, Matthew Hunter, Agnete Jorgensen, Sarina G. Kant, Cathy Kirally-Borri, David Koolen, Ajith Kumar, Anatalia Labilloy, Melissa Lees, Carlo Marcelis, Catherine Mercer, Cyril Mignot, Kathryn Miller, Katherine Neas, Ruth Newbury-Ecob, Daniela T. Pilz, Renata Posmyk, Carlos Prada, Keri Ramsey, Linda M. Randolph, Angelo Selicorni, Deborah Shears, Mohnish Suri, I. Karen Temple, Peter Turnpenny, Lionel Val Maldergem, Vinod Varghese, Hermine E. Veenstra-Knol, Naomi Yachelevich, Laura Yates, Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study, Deciphering Developmental Disorders (DDD) Study, Nazneen Rahman
Publikováno v:
Wellcome Open Research, Vol 3 (2018)
Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability syndrome first described in 2014 with a report of 13 individuals with constitutive heterozygous DNMT3A variants.
Externí odkaz:
https://doaj.org/article/c02e7b8508cf4bac9ec09604f83723ec
Autor:
Elisavet Fotiou, Silvia Martin-Almedina, Michael A. Simpson, Shin Lin, Kristiana Gordon, Glen Brice, Giles Atton, Iona Jeffery, David C. Rees, Cyril Mignot, Julie Vogt, Tessa Homfray, Michael P. Snyder, Stanley G. Rockson, Steve Jeffery, Peter S. Mortimer, Sahar Mansour, Pia Ostergaard
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-1 (2019)
This Article contains an error in the last sentence of the ‘Variant analysis suggests they are pathogenic’ section of the Results, which incorrectly reads ‘No truncated PIEZO1 protein products were identified in western blot analysis in GLD1:II
Externí odkaz:
https://doaj.org/article/e07e02869c1341999b9a713136862533
Autor:
Vita Zidere, Trisha V. Vigneswaran, Ioana Dumitrascu-Biris, William Regan, John M. Simpson, Tessa Homfray
Publikováno v:
HeartRhythm Case Reports. 8:674-678
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e83baf87df60f0ec408ba24a24dd74ea
https://doi.org/10.1016/j.hrcr.2022.07.007
https://doi.org/10.1016/j.hrcr.2022.07.007
Autor:
Emily Woods, Imogen Marson, Emanuele Coci, Michael Spiller, Ajith Kumar, Angela Brady, Tessa Homfray, Richard Fisher, Peter Turnpenny, Julia Rankin, Farah Kanani, Konrad Platzer, Athina Ververi, Eleftheria Emmanouilidou, Nourxan Bourboun, George Giannakoulas, Meena Balasubramanian
Publikováno v:
American Journal of Medical Genetics Part A. 188:3331-3342
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::80eae90bcdb7a513b7b1a71bfd8523a3
https://doi.org/10.1002/ajmg.a.62949
https://doi.org/10.1002/ajmg.a.62949
Autor:
Eleonora Moccia, Efstathios Papatheodorou, Chris J. Miles, Ahmed Merghani, Aneil Malhotra, Harshil Dhutia, Rachel Bastiaenen, Nabeel Sheikh, Abbas Zaidi, Giuseppe Damiano Sanna, Tessa Homfray, Nicholas Bunce, Lisa J. Anderson, Maite Tome, Elijah Behr, James Moon, Sanjay Sharma, Gherardo Finocchiaro, Michael Papadakis
Publikováno v:
The International Journal of Cardiovascular Imaging. 38:2723-2732
To describe the overlap between structural abnormalities typical of arrhythmogenic right ventricular cardiomyopathy (ARVC) and physiological right ventricular adaptation to exercise and differentiate between pathologic and physiologic findings using
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5764488c2636cfc7702a50d7bad8f522
https://doi.org/10.1007/s10554-022-02684-y
https://doi.org/10.1007/s10554-022-02684-y
Autor:
Anna Meroni, Silvia Kalantari, Alessia Arossa, Arsenio Spinillo, Chiara Melito, Annachiara Licia Scatigno, Stefania Cesari, Elisa Giorgio, Milena Furione, Tessa Homfray, Fabio Sirchia
Publikováno v:
American Journal of Medical Genetics Part A.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::01d3c614e0f51a6f2388f884f2ddb6d4
https://doi.org/10.1002/ajmg.a.63223
https://doi.org/10.1002/ajmg.a.63223