Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Emma Hobson"'
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)
Abstract Background With increased access to genetic testing, variants of uncertain significance (VUS) where pathogenicity is uncertain are being increasingly identified. More than 85% Osteogenesis Imperfecta (OI) patients have pathogenic variants in
Externí odkaz:
https://doaj.org/article/392f4e1d546f4ee3b85a5ddc6a3868b8
Autor:
Tomoo Ogi, Sarah Walker, Tom Stiff, Emma Hobson, Siripan Limsirichaikul, Gillian Carpenter, Katrina Prescott, Mohnish Suri, Philip J Byrd, Michiko Matsuse, Norisato Mitsutake, Yuka Nakazawa, Pradeep Vasudevan, Margaret Barrow, Grant S Stewart, A Malcolm R Taylor, Mark O'Driscoll, Penny A Jeggo
Publikováno v:
PLoS Genetics, Vol 8, Iss 11, p e1002945 (2012)
A homozygous mutational change in the Ataxia-Telangiectasia and RAD3 related (ATR) gene was previously reported in two related families displaying Seckel Syndrome (SS). Here, we provide the first identification of a Seckel Syndrome patient with mutat
Externí odkaz:
https://doaj.org/article/fc811c6d4e854caebafdb0d4cbce7d6f
Autor:
Siren Berland, Andreas Benneche, Andrew E. Fry, Kate Chandler, Julie Paulsen, Marie Falkenberg Smeland, Nicola Foulds, Neeti Ghali, Katrina Prescott, Jenny Carmichael, Vani Jain, Kay Metcalfe, Oliver Murch, Emma Hobson
Publikováno v:
Eur J Hum Genet
White–Sutton syndrome (WHSUS) is a neurodevelopmental disorder caused by heterozygous loss-of-function variants in POGZ. Through the Deciphering Developmental Disorders study and clinical testing, we identified 12 individuals from 10 families with
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:
Anna Sarkozy, Azzam Ismail, Rahul Phadke, R. Mein, Anne-Marie Childs, Emma Hobson, Karen Pysden, Schaida Schirwani, Francesco Muntoni, Audrey Smith
Publikováno v:
Neuromuscular Disorders. 31:359-366
Pathogenic variants in TPM2 have been associated with a variable clinical spectrum, including congenital myopathies and distal arthrogryposis, all but one with dominant inheritance. We report the second case of recessively inherited TPM2-related Esco
Autor:
Jamie M Ellingford, Huw B. Thomas, Raymond T. O'Keefe, Glenda M. Beaman, Sofia Douzgou, William G. Newman, Katrina Prescott, Katherine A. Wood, Emma Hobson
Publikováno v:
Newman, W, Wood, K, O'Keefe, R, Ellingford, J, Thomas, H, Douzgou, S, Beaman, G, Hobson, E & Prescott, K 2022, ' Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome ', Clinical Genetics, vol. 101, no. 2, pp. 255-259 . https://doi.org/10.1111/cge.14082
The developmental disorder Burn-McKeown Syndrome (BMKS) is characterised by choanal atresia and specific craniofacial features. BMKS is caused by biallelic variants in the pre-messenger RNA splicing factor TXNL4A. Most patients have a loss-of-functio
Autor:
Rebecca L, Poole, Philippa D K, Curry, Ruta, Marcinkute, Carole, Brewer, David, Coman, Emma, Hobson, Diana, Johnson, Sally Ann, Lynch, Anand, Saggar, Claire, Searle, Ingrid, Scurr, Peter D, Turnpenny, Pradeep, Vasudevan, Katrina, Tatton-Brown
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 185(8)
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:
Emma Hobson, Antonio Novelli, Valerie Wilson, David Bourn, Bruno Dallapiccola, Catherine Roberts, Maria Cristina Digilio, Schaida Schirwani
Publikováno v:
European Journal of Medical Genetics. 62:243-247
GPC3 and GPC4 are the only two genes in which mutations are known to cause Simpson-Golabi-Behmel syndrome type 1 (SGBS1). The majority of SGBS1 patients have point mutations or deletions in GPC3. Only one SGBS1 family has been reported with duplicati
Autor:
Emma Hobson, James A. Poulter, Eamonn Sheridan, Sunayna Best, Colin A. Johnson, Marilena Elpidorou, Verity L. Hartill
BackgroundThe HERC2 gene encodes a 527 kDa E3 ubiquitin protein ligase that has key roles in cell cycle regulation, spindle formation during mitosis, mitochondrial functions and DNA damage responses. It has essential roles during embryonic developmen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53ebe4cbb5945408b9d27d60a25cac32
https://eprints.whiterose.ac.uk/160583/8/jmedgenet-2020-106873.full.pdf
https://eprints.whiterose.ac.uk/160583/8/jmedgenet-2020-106873.full.pdf
Autor:
Marilena, Elpidorou, Sunayna, Best, James A, Poulter, Verity, Hartill, Emma, Hobson, Eamonn, Sheridan, Colin A, Johnson
Publikováno v:
Journal of medical genetics. 58(5)
TheWe ascertained a consanguineous family with a presumed autosomal recessive severe neurodevelopmental disorder that leads to paediatric lethality. In affected individuals, we identified a homozygousThis study extends the genotype-phenotype correlat