Clinical Genetics

Transcription factors in dysmorphology
pp. 137-143(7)
Author: Lacombe, Didier

Muddy waters: looking beyond the disease-causing mutation, DNA mutations at second sites influence phenotype
pp. 144-148(5)
Author: Andrew, Susan E.

SMN: understanding a complex protein complex and its role in disease
pp. 145-147(3)
Author: Andrew, Susan E.

Ionizing radiation-induced signaling pathways in ataxia telangiectasia
pp. 147-148(2)
Author: Andrew, Susan E.

Beginning of a molecular era in hearing and deafness
pp. 149-159(11)
Authors: Robertson, Nahid G; Morton, Cynthia C

Additive effect of three noradrenergic genes (ADRA2A, ADRA2C, DBH) on attention-deficit hyperactivity disorder and learning disabilities in Tourette syndrome subjects
pp. 160-172(13)
Authors: Comings, David E.; Gade-Andavolu, Radhika; Gonzalez, Nancy; Blake, Hezekiah; Wu, Shuijuan; MacMurray, James P.

Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1
pp. 173-181(9)
Authors: Bruyere, Helene; Lewis, ME Suzanne; Wood, Stephen; MacLeod, Patrick J; Langlois, Sylvie

Interpupillary distance in a normal black population
pp. 182-191(10)
Authors: Pivnick, EK; Rivas, ML; Tolley, EA; Smith, SD; Presbury, GJ

Effect of vitamin E on chromosomal aberrations in lymphocytes from patients with Down's syndrome
pp. 192-197(6)
Authors: Pincheira, J; Navarrete, MH; de la Torre, C; Tapia, G; Santos, MJ

Accurate determination of the number of CAG repeats in the Huntington disease gene using a sequence-specific internal DNA standard
pp. 198-202(5)
Authors: Bruland, Ove; Almqvist, Elisabeth W; Goldberg, Y Paul; Boman, Helge; Hayden, Michael R; Knappskog, Per M

An extra idic(21)(q22.1) in a child with some features of Down's syndrome
pp. 203-206(4)
Authors: Gutiérrez-Angulo, M; Ramos, Al; Dávalos, N; Sánchez-Corona, J; Rivera, H

A brief review of cryptic duplications of 21q as an emerging cause of Down syndrome: practical considerations for accurate detection
pp. 207-211(5)
Authors: Garcia-Heras, Jaime; Nagesh Rao, P

Rapid detection of polymorphisms in exons 10, 11 and 12 of the low density lipoprotein receptor gene (LDLR) and their use in a clinical genetic diagnostic setting
pp. 212-214(3)

Mutations in the endothelin-receptor B gene in Hirschsprung disease in Sweden
pp. 215-217(3)