ASD-CARC :: Researchers: Albert E. Chudley

A.E. Chudley, MD (Manitoba), FRCPC, FCCMG

SUMMARY OF RESEARCH:

Clinical genetics, dysmorphology, clinical teratogenesis, Fetal Alcohol Syndrome, clinical cytogenetics and genetics of mental retardation, X-linked mental retardation, autism spectrum disorders.

RELEVANT PUBLICATIONS:

Elliott AM, Evans JA, Reed MH, Chudley AE. Celani-Lenz syndactyly with features of Kabuki syndrome. Clin Dysmorphology 13:143-50, 2004.

Koren G, Nulman I, Chudley AE, Loocke C. Fetal Alcohol Spectrum Disorder. CMAJ 169; 1181-1185, 2003.

Chudley AE. The tools used by dysmorphologists. Clin Genet. 63:105-108, 2003.

Chudley AE, and Chodirker, BN. Down syndrome. Clin Genet 63: 268-272, 2003.

Chudley AE. Georges Marinesco (1863-1938).Clin Genet. 64:297-299. 2003.

Li C, Chudley AE. Severe hemihypotrophy in a female infant with mosiac Turner syndrome: a variant of Russel-Silver syndrome? Clin Dysmorph 13:95-98, 2004.

Chudley AE. autism spectrum disorders: a genetic update. Clin Genet 65: 352-357, 2004.

Elliott AM, Evans JA, Reed MH, Chudley AE. Celani-Lenz syndactyly with features of Kabuki syndrome. Clin Dysmorph 13:143-50, 2004.

Elliott A.M., Evans J.A., Chudley A.E. and Reed M.H. The duplicated longitudinal epiphysis or “kissing delta phalanx” – evolution and variation in three different disorders. Skel Rad 33: 345-351, 2004.

Chudley AE, Conry J, Cook JL, Loock C, Rosales T, LeBlanc N. Fetal Alcohol Spectrum Disorder: Canadian Guidelines for Diagnosis. CMAJ 172 (5 suppl): S1-S21, 2005.

Chudley AE, Conry J, Cook JL, Loock C, Rosales T, LeBlanc N. Ensemble des troubles causés par l'alcoolisation foetale : lignes directrices canadiennes concernant le diagnostic. CMAJ 172 (5 suppl): SF1- SF22, 2005

Del Bigio MR, Chudley, AE Booth FA, Pacin S. Late infantile onset Krabbe disease in siblings with cortical degeneration and absence of cerebral globoid cells. Neuropediatr 35(5):297-301, 2004.

Chodirker BN and Chudley AE. Epilepsy and Clinical Genetics Issues. Clinical Genetics 66: 290-292, 2004.

Loock C, Conry J, Cook JL, Chudley AE, Rosales T. Identifying fetal alcohol spectrum disorder in primary care. CMAJ 172: 628-630, 2005.

DeScipio C, Schneider L, Young TL, Wasserman N, Yaeger D, Lu F, Wheeler PG, Williams MS, Bason L, Jukofsky L, Menon A, Geschwindt R, Chudley AE, Saraiva J, Schinzel AA, Toutain A, Spinner NB, Krantz ID. Subtelomeric deletions of chromosome 4p; molecular and cytogenetic characterization of 3 new cases with phenotypic overlap with Ritscher-Schintzel (3C) syndrome. Am J Med Genet A. 134: 3-11, 2005.

Boycott KM, Flavelle S, Bureau A, Glass HC, Fujiwara TM, Wirrell E, Davey K, Chudley AE, Scott JN, McLeod DR, Parboosingh JS. Homozygous deletion of the very-low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. Am J Hum Genet. 77:477-83, 2005.

Abidi FE, Cardoso C, Lossi A-M, , Lowry RB, Depetris D, Mattei M-G, Lubs HA, Stevenson RE, Fontes M, Chudley AE, Schwartz CE. Mutation in the 5’ alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome. Eur J Hum Genet 13, 176-183, 2005.

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