Clinical Genetics

Cover image for Clinical Genetics

January 1998

Volume 53, Issue 1

Pages 1–78

  1. Editorial

    1. Top of page
    2. Editorial
    3. Mini Review
    4. HotSpots
    5. Original Article
    6. Short Report
    1. The new Clinical Genetics: towards the millennium (pages 1–2)

      Michael R. Hayden

      Article first published online: 19 JUL 2002 | DOI: 10.1034/j.1399-0004.1998.531530101.x

  2. Mini Review

    1. Top of page
    2. Editorial
    3. Mini Review
    4. HotSpots
    5. Original Article
    6. Short Report
    1. Lumping and splitting: molecular biology in the genetics clinic (pages 3–7)

      Leslie G. Biesecker

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1998.tb02569.x

  3. HotSpots

    1. Top of page
    2. Editorial
    3. Mini Review
    4. HotSpots
    5. Original Article
    6. Short Report
    1. HotSpots — A new feature in Clinical Genetics (page 8)

      Y. Paul Goldberg

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1998.tb02570.x

    2. A bone master gene, CBFAI, culpable in Cleidocranial dysplasia (pages 9–10)

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1998.tb02572.x

    3. Jagged gene responsible in Alagille syndrome (page 9)

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1998.tb02571.x

    4. A presynaptic Parkinson gene: α-synuclein (pages 11–12)

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1998.tb02574.x

    5. Killed by the clock (page 11)

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1998.tb02573.x

  4. Original Article

    1. Top of page
    2. Editorial
    3. Mini Review
    4. HotSpots
    5. Original Article
    6. Short Report
    1. Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6 (pages 13–19)

      Hidetaka Watanabe, Fumiaki Tanaka, Michiyo Matsumoto, Manabu Doyu, Tetsuo Ando, Terunori Mitsuma and Gen Sobue

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1998.tb02575.x

    2. Genotype -phenotype correlation in myotonic dystrophy (pages 20–26)

      Elisabeth B. Gharehbaghi-Schneli, Josef Finsterei, Irina Korschineck, Bruno Mamoli and Bernd R. Binder

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1998.tb02576.x

    3. The Asn9 variant of lipoprotein lipase is associated with the — 93G promoter mutation and an increased risk of coronary artery disease (pages 27–33)

      John JP Kastelein, Bjöm E. Groenemeyer, D Michael Hallman, Howard Henderson, PWA Reymer, S Eric Gagné, Hans Jansen, Jaap C. Seidell, Daan Kromhouf, J Wouter Jukema, Albert VG Bruschke, Eric Boerwinkle, Michael R. Hayden and The Regress Study Group

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1998.tb02577.x

    4. A clinical, cytogenetic and molecular study of ten probands with supernumerary inv dup (15) marker chromosomes (pages 34–43)

      T. Webb, CA Hardy, M. King, E. Watkiss, C. Mitchell and T. Cole

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1998.tb02578.x

  5. Short Report

    1. Top of page
    2. Editorial
    3. Mini Review
    4. HotSpots
    5. Original Article
    6. Short Report
    1. Complete identification of cystic fibrosis transmembrane conductance regulator mutations in the CF population of Saguenay Lac-Saint-Jean (Quebec, Canada) (pages 44–46)

      Marc De Braekeleer, Cécile Man, Claudine Verlingue, Christian Allard, Jean-Pierre Leblanc, Fernand Simard, Gervais Aubin and Claude Férec

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1998.tb02579.x

    2. The incidence of cystic fibrosis in Scotland calculated from heterozygote frequencies (pages 47–49)

      David JH Brock, Annette Gilfillan and Susan Holloway

      Article first published online: 19 JUL 2002 | DOI: 10.1034/j.1399-0004.1998.531530109.x

    3. Severe cystic fibrosis associated with a AF508/R347H + D979A compound heterozygous genotype (pages 50–53)

      Satoko Hojo, Jiro Fujita, Hiroshi Miyawaki, Yuka Obayashi, Jiro Takahara and Dennis W. Bartholomew

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1998.tb02581.x

    4. Association between asthma and an intragenic variant of CC16 on chromosome 11q13 (pages 54–56)

      X-Q Mao, T. Shirakawa, M. Kawai, T. Enomoto, S. Sasaki, Y. Dake, H. Kitano, A. Hagihara, JM Hopkin and K. Morimoto

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1998.tb02582.x

    5. ACTH receptor mutation in a girl with familial glucocorticoid deficiency (pages 57–62)

      Anne M. Slavotinek, Jane A. Hurst, David Dunger and Andrew ONI Wilkie

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1998.tb02583.x

    6. 22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental origin (pages 63–69)

      S. Fokstuen, U. Arbenz, S. Artan, F. Dutly, U. Bauersfeld, L. Brecevic, M. Fasnacht, B. Röthlisberger and A. Schinzel

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1998.tb02584.x

    7. The 4q-syndrome: delineation of the minimal critical region to within band 4q31 (pages 70–73)

      Stephen P. Robertson, Kelly O'Day and Agnes Bankier

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1998.tb02585.x

    8. VSD, hypospadias and normal psychomotor development in a patient with inv dup 8(q13-q21.2) (pages 74–78)

      Jacques C. Giltay, Jan A. Bokma, Henny de France and Frits A. Beemer

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1998.tb02586.x

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