Zobrazeno 1 - 10
of 80
pro vyhledávání: '"Kristi J Jones"'
Autor:
Joanne E Davidson, Jacqueline S Russell, Noelia Nunez Martinez, David R Mowat, Kristi J Jones, Edwin P Kirk, Didu Kariyawasam, Michelle Farrar, Arlene D’Silva
Publikováno v:
Genes, Vol 14, Iss 7, p 1403 (2023)
Background: Current carrier screening methods do not identify a proportion of carriers that may have children affected by spinal muscular atrophy (SMA). Additional genetic data is essential to inform accurate risk assessment and genetic counselling o
Externí odkaz:
https://doaj.org/article/c6fa0cd209a3414db8232fb3eeec323f
Autor:
Samantha J. Bryen, Michaela Yuen, Himanshu Joshi, Ruebena Dawes, Katharine Zhang, Jessica K. Lu, Kristi J. Jones, Christina Liang, Wui-Kwan Wong, Anthony J. Peduto, Leigh B. Waddell, Frances J. Evesson, Sandra T. Cooper
Publikováno v:
HGG Advances, Vol 3, Iss 4, Pp 100125- (2022)
Summary: Predicting the pathogenicity of acceptor splice-site variants outside the essential AG is challenging, due to high sequence diversity of the extended splice-site region. Critical analysis of 24,445 intronic extended acceptor splice-site vari
Externí odkaz:
https://doaj.org/article/76678012928846aab85efe76939ccff1
Autor:
Anna G. Mayhew, Meredith K. James, Ursula Moore, Helen Sutherland, Marni Jacobs, Jia Feng, Linda Pax Lowes, Lindsay N. Alfano, Robert Muni Lofra, Laura E. Rufibach, Kristy Rose, Tina Duong, Luca Bello, Irene Pedrosa-Hernández, Scott Holsten, Chikako Sakamoto, Aurélie Canal, Nieves Sánchez-Aguilera Práxedes, Simone Thiele, Catherine Siener, Bruno Vandevelde, Brittney DeWolf, Elke Maron, Heather Gordish-Dressman, Heather Hilsden, Michela Guglieri, Jean-Yves Hogrel, Andrew M. Blamire, Pierre G. Carlier, Simone Spuler, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Jordi Díaz-Manera, Elena Pegoraro, Jerry R. Mendell, Volker Straub
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Dysferlinopathy is a muscular dystrophy with a highly variable functional disease progression in which the relationship of function to some patient reported outcome measures (PROMs) has not been previously reported. This analysis aims to identify the
Externí odkaz:
https://doaj.org/article/0470816544d14c339d5608df7267ca17
Autor:
Laura Llansó, Ursula Moore, Carla Bolano-Diaz, Meredith James, Andrew M. Blamire, Pierre G. Carlier, Laura Rufibach, Heather Gordish-Dressman, Georgina Boyle, Heather Hilsden, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Elena Pegoraro, Jerry R. Mendell, Volker Straub, Jordi Díaz-Manera
Publikováno v:
Neuromuscular Disorders. 33:349-357
Autor:
Ursula Moore, Esther Fernández-Simón, Marianela Schiava, Dan Cox, Heather Gordish-Dressman, Meredith K. James, Anna Mayhew, Ian Wilson, Michela Guglieri, Laura Rufibach, Andrew Blamire, Pierre G. Carlier, Madoka Mori-Yoshimura, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Elena Bravver, Elena Pegoraro, Jerry R. Mendell, Kate Bushby, Jordi Diaz-Manera, Volker Straub
Publikováno v:
Neuromuscular Disorders. 33:199-207
Autor:
Ursula Moore, Marni Jacobs, Roberto Fernandez-Torron, Jaume LLauger Rossello, Fiona E. Smith, Meredith James, Anna Mayhew, Laura Rufibach, Pierre G. Carlier, Andrew M. Blamire, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Elena Pegoraro, Jerry R. Mendell, Kate Bushby, Volker Straub, Jordi Diaz-Manera
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Practice of sports during childhood or adolescence correlates with an earlier onset and more rapidly progressing phenotype in dysferlinopathies. To determine if this correlation relates to greater muscle pathology that persists into adulthood, we inv
Externí odkaz:
https://doaj.org/article/945d00c7ea94451cb594a35eeef06617
Autor:
D’Silva, Joanne E Davidson, Jacqueline S Russell, Noelia Nunez Martinez, David R Mowat, Kristi J Jones, Edwin P Kirk, Didu Kariyawasam, Michelle Farrar, Arlene
Publikováno v:
Genes; Volume 14; Issue 7; Pages: 1403
Background: Current carrier screening methods do not identify a proportion of carriers that may have children affected by spinal muscular atrophy (SMA). Additional genetic data is essential to inform accurate risk assessment and genetic counselling o
Autor:
Wui-Kwan Wong, Samantha J Bryen, Adam Bournazos, Joe Yasa, Frances Lemckert, Shobhana Bommireddipall, Leigh B Waddell, Manoj P Menezes, Richard Webster, Mark Davis, Christina Liang, Sandra T Cooper, Kristi J Jones
Publikováno v:
Neuromuscular Disorders. 32:707-717
Paediatric hyperCKaemia without weakness presents a clinical conundrum. Invasive investigations with low diagnostic yields, including muscle biopsy, may be considered unjustifiable. Improved access to genome-wide genetic testing has shifted first-lin
Autor:
Richard Gallon, Rachel Phelps, Christine Hayes, Laurence Brugieres, Léa Guerrini-Rousseau, Chrystelle Colas, Martine Muleris, Neil A.J. Ryan, D. Gareth Evans, Hannah Grice, Emily Jessop, Annabel Kunzemann-Martinez, Lilla Marshall, Esther Schamschula, Klaus Oberhuber, Amedeo A. Azizi, Hagit Baris Feldman, Andreas Beilken, Nina Brauer, Triantafyllia Brozou, Karin Dahan, Ugur Demirsoy, Benoît Florkin, William Foulkes, Danuta Januszkiewicz-Lewandowska, Kristi J. Jones, Christian P. Kratz, Stephan Lobitz, Julia Meade, Michaela Nathrath, Hans-Jürgen Pander, Claudia Perne, Iman Ragab, Tim Ripperger, Thorsten Rosenbaum, Daniel Rueda, Tomasz Sarosiek, Astrid Sehested, Isabel Spier, Manon Suerink, Stefanie-Yvonne Zimmermann, Johannes Zschocke, Gillian M. Borthwick, Katharina Wimmer, John Burn, Michael S. Jackson, Mauro Santibanez-Koref
Publikováno v:
Gallon, R, Phelps, R, Hayes, C, Brugieres, L, Guerrini-Rousseau, L, Colas, C, Muleris, M, Ryan, N A J, Evans, D G, Grice, H, Jessop, E, Kunzemann-Martinez, A, Marshall, L, Schamschula, E, Oberhuber, K, Azizi, A A, Baris Feldman, H, Beilken, A, Brauer, N, Brozou, T, Dahan, K, Demirsoy, U, Florkin, B, Foulkes, W, Januszkiewicz-Lewandowska, D, Jones, K J, Kratz, C P, Lobitz, S, Meade, J, Nathrath, M, Pander, H-J, Perne, C, Ragab, I, Ripperger, T, Rosenbaum, T, Rueda, D, Sarosiek, T, Sehested, A, Spier, I, Suerink, M, Zimmermann, S-Y, Zschocke, J, Borthwick, G M, Wimmer, K, Burn, J, Jackson, M S & Santibanez-Koref, M 2023, ' Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency ', Gastroenterology, vol. 164, no. 4, pp. 579-592.e8 . https://doi.org/10.1053/j.gastro.2022.12.017
BACKGROUND & AIMS: Constitutional mismatch repair deficiency (CMMRD) is a rare recessive childhood cancer predisposition syndrome caused by germline mismatch repair variants. Constitutional microsatellite instability (cMSI) is a CMMRD diagnostic hall
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2f9c31dd5604b2681e0b38c8e5c76ee
https://www.pure.ed.ac.uk/ws/files/342899380/1_s2.0_S0016508522014445_main.pdf
https://www.pure.ed.ac.uk/ws/files/342899380/1_s2.0_S0016508522014445_main.pdf
Autor:
Traude H. Beilharz, Roger R. Reddel, Tatjana Kilo, Kristi J. Jones, David R. Powell, Bruce Bennetts, Jonathan W. Arthur, Raja S. Vasireddy, Tracy M. Bryan, Julie Curtin, Pasquale M Barbaro, Hilda A. Pickett, John Christodoulou, Juliana Teo, Emma L. Hackett
Publikováno v:
eJHaem. 2:157-166