Zobrazeno 1 - 10
of 60
pro vyhledávání: '"Katrina Tatton-Brown"'
Autor:
Beth Coad, Katherine Joekes, Alicja Rudnicka, Amy Frost, Mark Robert Openshaw, Katrina Tatton-Brown, Katie Snape
Publikováno v:
BMC Medical Education, Vol 23, Iss 1, Pp 1-12 (2023)
Abstract Background The implementation of the National Genomic Medicine Service in the UK has increased patient access to germline genomic testing. Increased testing leads to more genetic diagnoses but does result in the identification of genomic var
Externí odkaz:
https://doaj.org/article/508b698479e4471e875fc6b598fce479
Publikováno v:
Frontiers in Endocrinology, Vol 10 (2019)
The second 360° European Meeting on Growth Hormone Disorders, held in Barcelona, Spain, in June 2017, included a session entitled Pragmatism vs. Curiosity in Genetic Diagnosis of Growth Disorders, which examined current concepts of genetics and grow
Externí odkaz:
https://doaj.org/article/94c29b1df9574befa04a1785b5e6ce6f
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:
Rebecca L. Poole, Emilia K. Bijlsma, Gunnar Houge, Gabriela Jones, Violeta Mikštienė, Eglė Preikšaitienė, Louise Thompson, Katrina Tatton-Brown
Publikováno v:
Clinical Dysmorphology. 32:49-54
Autor:
Rippie K Tutika, James A Bennett, Jean Abraham, Katie Snape, Katrina Tatton-Brown, Zoe Kemp, Ellen Copson, Mark R Openshaw
Publikováno v:
Clinical Medicine. 23:9-15
Autor:
Margaret A. Goodell, Benjamin L. Ebert, Wei Li, Jamie R. Blundell, Mathijs A. Sanders, Lionel Van Maldergem, Peter J.M. Valk, Alexander Meissner, Xiaodong Cheng, Yun Huang, Katrina Tatton-Brown, Yubin Zhou, Lorenzo Brunetti, Minjung Lee, Christina Galonska, Brielle R. Crovetti, Olga Dakhova, Jaime M. Reyes, Ayala Tovy, Caroline J. Watson, Dapeng Hao, Mikołaj Słabicki, Venkatasubramaniam Sundaramurthy, Chun-Wei Chen, Yung-Hsin Huang
Supplementary Figure from Systematic Profiling of DNMT3A Variants Reveals Protein Instability Mediated by the DCAF8 E3 Ubiquitin Ligase Adaptor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3397c680c3d88c32351ce8597d5c007f
https://doi.org/10.1158/2159-8290.22540261.v1
https://doi.org/10.1158/2159-8290.22540261.v1
Autor:
Margaret A. Goodell, Benjamin L. Ebert, Wei Li, Jamie R. Blundell, Mathijs A. Sanders, Lionel Van Maldergem, Peter J.M. Valk, Alexander Meissner, Xiaodong Cheng, Yun Huang, Katrina Tatton-Brown, Yubin Zhou, Lorenzo Brunetti, Minjung Lee, Christina Galonska, Brielle R. Crovetti, Olga Dakhova, Jaime M. Reyes, Ayala Tovy, Caroline J. Watson, Dapeng Hao, Mikołaj Słabicki, Venkatasubramaniam Sundaramurthy, Chun-Wei Chen, Yung-Hsin Huang
Supplementary Table from Systematic Profiling of DNMT3A Variants Reveals Protein Instability Mediated by the DCAF8 E3 Ubiquitin Ligase Adaptor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2aa65137d319df7cd6431c507ba65797
https://doi.org/10.1158/2159-8290.22540255
https://doi.org/10.1158/2159-8290.22540255
Autor:
Margaret A. Goodell, Benjamin L. Ebert, Wei Li, Jamie R. Blundell, Mathijs A. Sanders, Lionel Van Maldergem, Peter J.M. Valk, Alexander Meissner, Xiaodong Cheng, Yun Huang, Katrina Tatton-Brown, Yubin Zhou, Lorenzo Brunetti, Minjung Lee, Christina Galonska, Brielle R. Crovetti, Olga Dakhova, Jaime M. Reyes, Ayala Tovy, Caroline J. Watson, Dapeng Hao, Mikołaj Słabicki, Venkatasubramaniam Sundaramurthy, Chun-Wei Chen, Yung-Hsin Huang
Clonal hematopoiesis is a prevalent age-related condition associated with a greatly increased risk of hematologic disease; mutations in DNA methyltransferase 3A (DNMT3A) are the most common driver of this state. DNMT3A variants occur across the gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e91e313cc867f0f32398df58b6bf55f
https://doi.org/10.1158/2159-8290.c.6549331
https://doi.org/10.1158/2159-8290.c.6549331
Autor:
Carole Brewer, Ingrid Scurr, Claire Searle, Ruta Marcinkute, Rebecca L Poole, Katrina Tatton-Brown, Diana Johnson, Peter D. Turnpenny, David Coman, Sally Ann Lynch, Pradeep C. Vasudevan, Philippa D K Curry, Anand Saggar, Emma Hobson
Publikováno v:
American Journal of Medical Genetics Part A. 185:2445-2454
Smith-Kingsmore Syndrome (SKS) is a rare genetic syndrome associated with megalencephaly, a variable intellectual disability, autism spectrum disorder, and MTOR gain of function variants. Only 30 patients with MTOR missense variants are published, in
Autor:
Jean Paul Vonsattel, Christine Tranchant, Jamel Chelly, Katrina Tatton-Brown, Wendy K. Chung, Thomas Wirth, Etty Cortes, Andrea H. Németh, Gabrielle Rudolf, Cécile Hubsch, Nathalie Drouot, Volkan Okur, Christine Y. Kim, Roy N. Alcalay, Mathieu Anheim, Cornelis Blauwendraat
Publikováno v:
Ann Neurol
Annals of Neurology
Annals of Neurology, 2020, 88 (5), pp.1028-1033. ⟨10.1002/ana.25863⟩
Annals of Neurology
Annals of Neurology, 2020, 88 (5), pp.1028-1033. ⟨10.1002/ana.25863⟩
PPP2R5D-related neurodevelopmental disorder is characterized by a range of neurodevelopmental and behavioral manifestations. We report the association of early-onset parkinsonism with the PPP2R5D p.E200K mutation. Clinical characterization and exome