User profiles for A. Rideout
Andrew RideoutNHS 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 …
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 …
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, …
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 …
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
Background: Emerging evidence suggests that heart failure (HF) patients who have mild
cognitive impairment (MCI) may experience greater difficulty with self-care. Objective: This …
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 …
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 …
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 …
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, …
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…
of Antarctic ice sheet elevation change. This new data set provides near‐continuous (96…