User profiles for Christine M. Armour
 | Christine ArmourCHEO Verified email at cheo.on.ca Cited by 2890 |
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
…, HE Butler, NA Kramer, B Albrecht, CM Armour… - Nature …, 2012 - nature.com
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyria-polydactyly-hydrocephalus
(MPPH) syndromes are sporadic overgrowth disorders associated …
(MPPH) syndromes are sporadic overgrowth disorders associated …
The clinical application of genome-wide sequencing for monogenic diseases in Canada: position statement of the Canadian College of Medical Geneticists
Purpose and scope The aim of this Position Statement is to provide recommendations for
Canadian medical geneticists, clinical laboratory geneticists, genetic counsellors and other …
Canadian medical geneticists, clinical laboratory geneticists, genetic counsellors and other …
Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations
…, J Van Gils, A Afenjar, CM Armour… - American Journal of …, 2016 - Wiley Online Library
Rubinstein–Taybi syndrome (RSTS) is a developmental disorder characterized by a typical
face and distal limbs abnormalities, intellectual disability, and a vast number of other features…
face and distal limbs abnormalities, intellectual disability, and a vast number of other features…
Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in …
Background The aim of this guideline is to provide updated recommendations for Canadian
genetic counsellors, medical geneticists, maternal fetal medicine specialists, clinical …
genetic counsellors, medical geneticists, maternal fetal medicine specialists, clinical …
Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations
CM Armour, JE Allanson - Journal of medical genetics, 2008 - jmg.bmj.com
Background: Cardio-facio-cutaneous syndrome (CFC) is a multiple congenital anomaly/mental
retardation syndrome named because of a characteristic facies, cardiac anomalies, and …
retardation syndrome named because of a characteristic facies, cardiac anomalies, and …
Cardio‐facio‐cutaneous syndrome: does genotype predict phenotype?
…, G Annerén, Y Aoki, CM Armour… - American Journal of …, 2011 - Wiley Online Library
CFC syndrome is the largest reported to date. BRAF mutations are documented in 140
individuals ($75%), while 46 ($25%) have a mutation in MEK 1 or MEK 2. The age range is 6 …
individuals ($75%), while 46 ($25%) have a mutation in MEK 1 or MEK 2. The age range is 6 …
[HTML][HTML] Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression
Purpose: The purpose of the current study was to assess the penetrance of NRXN1 deletions.
Methods: We compared the prevalence and genomic extent of NRXN1 deletions identified …
Methods: We compared the prevalence and genomic extent of NRXN1 deletions identified …
Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay
Background A homozygous loss-of-function mutation p.(Arg316Gln) in the fat mass and
obesity-associated (FTO) gene, which encodes for an iron and 2-oxoglutarate-dependent …
obesity-associated (FTO) gene, which encodes for an iron and 2-oxoglutarate-dependent …
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study
…, A Alcantud, GP Ambegaonkar, CM Armour… - The Lancet Diabetes & …, 2020 - thelancet.com
Background Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene
encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor …
encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor …
RETIRED: Joint SOGC–CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare …
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