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Albert E. Chudley
Albert E. Chudley
Professor Emeritus, Paediatrics and Child Health, University of Manitoba
Overená e-mailová adresa na: umanitoba.ca
Názov
Citované v
Citované v
Rok
Fetal alcohol spectrum disorder: Canadian guidelines for diagnosis
AE Chudley, J Conry, JL Cook, C Loock, T Rosales, N LeBlanc
Cmaj 172 (5 suppl), S1-S21, 2005
12712005
Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy
H Niimura, LL Bachinski, S Sangwatanaroj, H Watkins, AE Chudley, ...
New England Journal of Medicine 338 (18), 1248-1257, 1998
9511998
Fetal alcohol spectrum disorder: a guideline for diagnosis across the lifespan
JL Cook, CR Green, CM Lilley, SM Anderson, ME Baldwin, AE Chudley, ...
Cmaj 188 (3), 191-197, 2016
5832016
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
CM Greco, RJ Hagerman, F Tassone, AE Chudley, MR Del Bigio, ...
Brain 125 (8), 1760-1771, 2002
5772002
Comorbidity of fetal alcohol spectrum disorder: a systematic review and meta-analysis
S Popova, S Lange, K Shield, A Mihic, AE Chudley, RAS Mukherjee, ...
The Lancet 387 (10022), 978-987, 2016
5752016
Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality
BM Kamath, NB Spinner, KM Emerick, AE Chudley, C Booth, DA Piccoli, ...
Circulation 109 (11), 1354-1358, 2004
3762004
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis
M Attanasio, NH Uhlenhaut, VH Sousa, JF O'Toole, E Otto, K Anlag, ...
Nature genetics 39 (8), 1018-1024, 2007
2632007
Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability
A Noor, A Whibley, CR Marshall, PJ Gianakopoulos, A Piton, AR Carson, ...
Science translational medicine 2 (49), 49ra68-49ra68, 2010
2482010
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
G Wheway, M Schmidts, DA Mans, K Szymanska, TMT Nguyen, H Racher, ...
Nature cell biology 17 (8), 1074-1087, 2015
2452015
Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification
KM Boycott, S Flavelle, A Bureau, HC Glass, TM Fujiwara, E Wirrell, ...
The American Journal of Human Genetics 77 (3), 477-483, 2005
2362005
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone
L Huang, K Szymanska, VL Jensen, AR Janecke, AM Innes, EE Davis, ...
The American Journal of Human Genetics 89 (6), 713-730, 2011
2252011
Autosomal-recessive intellectual disability with cerebellar atrophy syndrome caused by mutation of the manganese and zinc transporter gene SLC39A8
KM Boycott, CL Beaulieu, KD Kernohan, OH Gebril, A Mhanni, ...
The American Journal of Human Genetics 97 (6), 886-893, 2015
2072015
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome
RL Hood, MA Lines, SM Nikkel, J Schwartzentruber, C Beaulieu, ...
The American Journal of Human Genetics 90 (2), 308-313, 2012
1942012
Fetal alcohol spectrum disorder
G Koren, I Nulman, AE Chudley, C Loocke
Cmaj 169 (11), 1181-1185, 2003
1912003
Kabuki syndrome: international consensus diagnostic criteria
MP Adam, S Banka, HT Bjornsson, O Bodamer, AE Chudley, J Harris, ...
Journal of medical genetics 56 (2), 89-95, 2019
1852019
Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome
KA Lugenbeel, AM Peier, NL Carson, AE Chudley, DL Nelson
Nature genetics 10 (4), 483-485, 1995
1781995
Phenotypic variability in glutaric aciduria type I: report of fourteen cases in five Canadian Indian kindreds
JC Haworth, FA Booth, AE Chudley, GW Degroot, LA Dilling, SI Goodman, ...
The Journal of pediatrics 118 (1), 52-58, 1991
1741991
DNA methylation signature of human fetal alcohol spectrum disorder
E Portales-Casamar, AA Lussier, MJ Jones, JL MacIsaac, RD Edgar, ...
Epigenetics & chromatin 9, 1-20, 2016
1642016
Fragile X syndrome
AE Chudley, RJ Hagerman
The Journal of pediatrics 110 (6), 821-831, 1987
1581987
Incidence of colorectal cancer in BRCA1 and BRCA2 mutation carriers: results from a follow-up study
CM Phelan, J Iqbal, HT Lynch, J Lubinski, J Gronwald, P Moller, ...
British journal of cancer 110 (2), 530-534, 2014
1562014
Systém momentálne nemôže vykonať operáciu. Skúste to neskôr.
Články 1–20