User profiles for K. Chandler
Kate ChandlerConsultant Clinical geneticist Verified email at cmft.nhs.uk Cited by 11352 |
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection
…, C Baumann, P Baxter, E Bertini, KE Chandler… - Nature …, 2006 - nature.com
Aicardi-Goutières syndrome (AGS) is an autosomal recessive neurological disorder, the clinical
and immunological features of which parallel those of congenital viral infection. Here we …
and immunological features of which parallel those of congenital viral infection. Here we …
Review of pulsed power-driven high energy density physics research on Z at Sandia
…, DG Chacon, GA Chandler, K Chandler… - Physics of …, 2020 - pubs.aip.org
Pulsed power accelerators compress electrical energy in space and time to provide versatile
experimental platforms for high energy density and inertial confinement fusion science. The …
experimental platforms for high energy density and inertial confinement fusion science. The …
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
…, A Cavallini, C Cereda, KE Chandler… - American journal of …, 2015 - Wiley Online Library
Aicardi–Goutières syndrome is an inflammatory disease occurring due to mutations in any
of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on …
of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on …
[HTML][HTML] Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
…, GK Carey, R Mellis, S Robart, IR Berry, KE Chandler… - The Lancet, 2019 - thelancet.com
Background Fetal structural anomalies, which are detected by ultrasonography, have a
range of genetic causes, including chromosomal aneuploidy, copy number variations (CNVs; …
range of genetic causes, including chromosomal aneuploidy, copy number variations (CNVs; …
[PDF][PDF] Clinical and molecular phenotype of Aicardi-Goutieres syndrome
…, CJ Burke, IM Carr, DR Carvalho, KE Chandler… - The American Journal of …, 2007 - cell.com
Aicardi-Goutières syndrome (AGS) is a genetic encephalopathy whose clinical features mimic
those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations …
those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations …
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
…, S Mansour, M Whiteford, KE Chandler… - Journal of medical …, 2018 - jmg.bmj.com
Background De novo mutations in PURA have recently been described to cause PURA
syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), …
syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), …
Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1 …
…, MP Botella, C Cereda, KE Chandler… - The lancet …, 2013 - thelancet.com
Background Aicardi-Goutières syndrome (AGS) is an inflammatory disorder caused by
mutations in any of six genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and …
mutations in any of six genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and …
Age and causes of death in adult-onset myotonic dystrophy.
…, HB Anten, HJ Smeets, KE Chandler… - Brain: a journal of …, 1998 - academic.oup.com
Myotonic dystrophy is a relatively common type of muscular dystrophy, associated with a
variety of systemic complications. Long term follow-up is difficult because of the slow …
variety of systemic complications. Long term follow-up is difficult because of the slow …
Clinical delineation and natural history of the PIK3CA‐related overgrowth spectrum
…, M Balasubramanian, KE Chandler… - American journal of …, 2014 - Wiley Online Library
Somatic mutations in the phosphatidylinositol/AKT/mTOR pathway cause segmental
overgrowth disorders. Diagnostic descriptors associated with PIK3CA mutations include …
overgrowth disorders. Diagnostic descriptors associated with PIK3CA mutations include …
Canine epilepsy: what can we learn from human seizure disorders?
K Chandler - The Veterinary Journal, 2006 - Elsevier
Epilepsy is a common neurological disorder in both dogs and humans. It is refractory to
therapy in approximately one-third of canine patients, and even with the advent of new …
therapy in approximately one-third of canine patients, and even with the advent of new …