[HTML][HTML] The prevalence of juvenile Huntington's disease: a review of the literature and meta-analysis
O Quarrell, KL O'Donovan, O Bandmann, M Strong - PLoS currents, 2012 - ncbi.nlm.nih.gov
Juvenile Huntington’s disease (JHD) is usually defined as Huntington's disease with an
onset≤ 20 years. The proportion of JHD cases reported in studies of Huntington’s disease (HD) …
onset≤ 20 years. The proportion of JHD cases reported in studies of Huntington’s disease (HD) …
The global prevalence of Huntington's disease: a systematic review and discussion
… studies were assessed by two independent reviewers (SS Baig and OWJ Quarrell). … 18
Quarrell O, O'Donovan KL, Bandmann O, Strong M. The prevalence of juvenile … Oliver Quarrell & …
Quarrell O, O'Donovan KL, Bandmann O, Strong M. The prevalence of juvenile … Oliver Quarrell & …
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection
…, C McKeown, A Monier, Y Oade, OW Quarrell… - 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 …
[HTML][HTML] Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations
…, FC Connell, D Williams, O Quarrell… - European Journal of …, 2014 - nature.com
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR)(MIM
No. 152950) is a rare autosomal dominant condition for which a causative gene has …
No. 152950) is a rare autosomal dominant condition for which a causative gene has …
[HTML][HTML] Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
…, RA Lewis, R Newbury-Ecob, K Prescott, OW Quarrell… - 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; …
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans
…, R Newbury-Ecob, KH Ørstavik, OWJ Quarrell… - Nature …, 2003 - nature.com
Remodeling of the cytoskeleton is central to the modulation of cell shape and migration.
Filamin A, encoded by the gene FLNA, is a widely expressed protein that regulates re-…
Filamin A, encoded by the gene FLNA, is a widely expressed protein that regulates re-…
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome
…, SA Lynch, RJ Thompson, B Lo, OW Quarrell… - Nature …, 2004 - nature.com
ARC syndrome (OMIM 208085) is an autosomal recessive multisystem disorder characterized
by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal …
by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal …
ATRX Encodes a Novel Member of the SNF2 Family of Proteins: Mutations Point to a Common Mechanism Underlying the ATR-X Syndrome
…, S Bachoo, DJ Blake, OWJ Quarrell… - Human molecular …, 1996 - academic.oup.com
It was shown recently that mutations of the ATRX gene give rise to a severe, X-linked form of
syndromal mental retardation associated with thalassaemia (ATR-X syndrome). In this study…
syndromal mental retardation associated with thalassaemia (ATR-X syndrome). In this study…
Clinical studies on submicroscopic subtelomeric rearrangements: a checklist
…, C McKeown, M Splitt, OWJ Quarrell… - Journal of medical …, 2001 - jmg.bmj.com
BACKGROUND Submicroscopic subtelomeric chromosome defects have been found in 7.4%
of children with moderate to severe mental retardation and in 0.5% of children with mild …
of children with moderate to severe mental retardation and in 0.5% of children with mild …
[PDF][PDF] Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus
…, M Shaw, J Boyle, B Kerr, G Turner, O Quarrell… - The American Journal of …, 2007 - cell.com
We have identified one frameshift mutation, one splice-site mutation, and two missense
mutations in highly conserved residues in ZDHHC9 at Xq26.1 in 4 of 250 families with X-linked …
mutations in highly conserved residues in ZDHHC9 at Xq26.1 in 4 of 250 families with X-linked …