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pro vyhledávání: '"Philippa D K Curry"'
Publikováno v:
The Pharmacogenomics Journal. 23:1-7
Psoriatic arthritis (PsA) is a heterogeneous chronic musculoskeletal disease, affecting up to 30% of people with psoriasis. Research into PsA pathogenesis has led to the development of targeted therapies, including Tumor Necrosis Factor inhibitors (T
Publikováno v:
Rheumatology. 62
Background/Aims It is not currently possible to accurately predict tumour necrosis factor inhibitor (TNF-i) response in psoriatic arthritis (PsA). In rheumatoid arthritis, suboptimal adherence to TNF-i and reduced drug levels have been associated wit
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
Publikováno v:
Current Genetic Medicine Reports. 9:13-21
Purpose of Review Whole exome sequencing (WES) and whole-genome sequencing (WGS) are frontline approaches for the genetic diagnosis of rare diseases. However, WES/WGS fails in up to 75% of cases. Transcriptomics via RNA-sequencing (RNA-Seq) is a nove
Publikováno v:
The pharmacogenomics journal.
Psoriatic arthritis (PsA) is a heterogeneous chronic musculoskeletal disease, affecting up to 30% of people with psoriasis. Research into PsA pathogenesis has led to the development of targeted therapies, including Tumor Necrosis Factor inhibitors (T
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