Clinical Genetics

The new Clinical Genetics: towards the millennium
pp. 1-2(2)
Author: Hayden M.R.

Lumping and splitting: molecular biology in the genetics clinic
pp. 3-7(5)
Author: Biesecker L.G.

A new feature in Clinical Genetics
pp. 8-12(5)
Author: Goldberg Y.P.

Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6
pp. 13-19(7)
Authors: Watanabe H.; Tanaka F.; Matsumoto M.; Doyu M.; Ando T.; Mitsuma T.; Sobue G.

Genotype–phenotype correlation in myotonic dystrophy
pp. 20-26(7)
Authors: Gharehbaghi-Schnell E.B.; Finsterer J.; Korschineck I.; Mamoli B.; Binder B.R.

The Asn9 variant of lipoprotein lipase is associated with the -93G promoter mutation and an increased risk of coronary artery disease
pp. 27-33(7)
Authors: Kastelein J.J.; Groenemeyer B.E.; Hallman D.M.; Henderson H.; Reymer P.; Gagné S.E.; Jansen H.; Seidell J.C.; Kromhout D.; Jukema J.W.; Bruschke A.V.; Boerwinkle E.; Hayden M.R.

A clinical, cytogenetic and molecular study of ten probands with supernumerary inv dup (15) marker chromosomes
pp. 34-43(10)
Authors: Webb T.; Hardy C.; King M.; Watkiss E.; Mitchell C.; Cole T.

Complete identification of cystic fibrosis transmembrane conductance regulator mutations in the CF population of Saguenay Lac-Saint-Jean (Quebec, Canada)
pp. 44-46(3)
Authors: De Braekeleer M.; Mari C.; Verlingue C.; Allard C.; Leblanc J-P.; Simard F.; Aubin G.; Férec C.

The incidence of cystic fibrosis in Scotland calculated from heterozygote frequencies
pp. 47-49(3)
Authors: Brock D.J.; Gilfillan A.; Holloway S.

Severe cystic fibrosis associated with a F508/R347H+D979A compound heterozygous genotype
pp. 50-53(4)
Authors: Hojo S.; Fujita J.; Miyawaki H.; Obayashi Y.; Takahara J.; Bartholomew D.W.

Association between asthma and an intragenic variant of CC16 on chromosome 11q13
pp. 54-56(3)
Authors: Mao X-Q.; Shirakawa T.; Kawai M.; Enomoto T.; Sasaki S.; Dake Y.; Kitano H.; Hagihara A.; Hopkin J.; Morimoto K.

ACTH receptor mutation in a girl with familial glucocorticoid deficiency
pp. 57-62(6)
Authors: Slavotinek A.M.; Hurst J.A.; Dunger D.; Wilkie A.O.

22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental origin
pp. 63-69(7)
Authors: Fokstuen S.; Arbenz U.; Artan S.; Dutly F.; Bauersfeld U.; Brecevic L.; Fasnacht M.; Räthlisberger B.; Schinzel A.

The 4q-syndrome: delineation of the minimal critical region to within band 4q31
pp. 70-73(4)
Authors: Robertson S.P.; O'Day K.; Bankier A.

VSD, hypospadias and normal psychomotor development in a patient with inv dup 8(q13–q21.2)
pp. 74-78(5)
Authors: Giltay J.C.; Bokma J.A.; de France H.; Beemer F.A.