User profiles for A. Rideout

Andrew Rideout

NHS Dumfries & Galloway
Verified email at nhs.scot
Cited by 130

A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3

…, J Richer, J Désir, M Kempers, AL Rideout… - Human …, 2018 - Wiley Online Library
The Loeys–Dietz syndrome (LDS) is a connective tissue disorder affecting the cardiovascular,
skeletal, and ocular system. Most typically, LDS patients present with aortic aneurysms …

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia

…, M Lachance, M Matsuoka, M Nightingale, A Rideout… - Nature …, 2009 - nature.com
The sideroblastic anemias are a heterogeneous group of congenital and acquired hematological
disorders whose morphological hallmark is the presence of ringed sideroblasts—bone …

[PDF][PDF] Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4

…, M Nightingale, L Patry, AL Rideout… - The American Journal of …, 2010 - cell.com
Primary microcephaly is a rare condition in which brain size is substantially diminished
without other syndromic abnormalities. Seven autosomal loci have been genetically mapped, …

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome

…, M LeBlanc, J Paquette, L Patry, AL Rideout… - Nature …, 2011 - nature.com
Meier-Gorlin syndrome is a rare autosomal recessive genetic condition whose primary clinical
hallmarks include small stature, small external ears and small or absent patellae. Using …

The association between mild cognitive impairment and self-care in adults with chronic heart failure: a systematic review and narrative synthesis

K Currie, A Rideout, G Lindsay… - Journal of Cardiovascular …, 2015 - journals.lww.com
Background: Emerging evidence suggests that heart failure (HF) patients who have mild
cognitive impairment (MCI) may experience greater difficulty with self-care. Objective: This …

[PDF][PDF] Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man

…, ML Del Rosario, S Dyack, V Price, A Rideout… - The American Journal of …, 2012 - cell.com
Environmental manganese (Mn) toxicity causes an extrapyramidal, parkinsonian-type
movement disorder with characteristic magnetic resonance images of Mn accumulation in the …

Genetic education for primary care providers: improving attitudes, knowledge, and confidence

JC Carroll, AL Rideout, BJ Wilson, JMD Allanson… - Canadian family …, 2009 - cfp.ca
OBJECTIVE To increase primary care providers’ awareness and use of genetic services;
increase their knowledge of genetic issues; increase their confidence in core genetic …

CryoSat‐2 estimates of Arctic sea ice thickness and volume

SW Laxon, KA Giles, AL Ridout… - Geophysical …, 2013 - Wiley Online Library
Satellite records show a decline in ice extent over more than three decades, with a record
minimum in September 2012. Results from the Pan‐Arctic Ice‐Ocean Modelling and …

Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder

…, DDD Study, LF Raymond, AL Rideout… - Clinical …, 2015 - Wiley Online Library
Studies of genomic copy number variants (CNVs) have identified genes associated with
autism spectrum disorder (ASD) and intellectual disability (ID) such as NRXN1, SHANK2, …

Increased ice losses from Antarctica detected by CryoSat‐2

…, A Sundal, K Briggs, A Muir, A Ridout… - Geophysical …, 2014 - Wiley Online Library
We use 3 years of Cryosat‐2 radar altimeter data to develop the first comprehensive assessment
of Antarctic ice sheet elevation change. This new data set provides near‐continuous (96…