Clinical Genetics

Cover image for Clinical Genetics

July 2000

Volume 58, Issue 1

Pages 1–88

  1. Mini Review

    1. Top of page
    2. Mini Review
    3. Opinion
    4. Developmental Biology: Frontiers for Clinical Genetics
    5. Images in Genetics
    6. Original Articles
    7. Short Reports
    8. Letters to the Editor
  2. Opinion

    1. Top of page
    2. Mini Review
    3. Opinion
    4. Developmental Biology: Frontiers for Clinical Genetics
    5. Images in Genetics
    6. Original Articles
    7. Short Reports
    8. Letters to the Editor
    1. Altering the pathway to human gene therapy (pages 12–15)

      Me Suzanne Lewis

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.580102.x

  3. Developmental Biology: Frontiers for Clinical Genetics

    1. Top of page
    2. Mini Review
    3. Opinion
    4. Developmental Biology: Frontiers for Clinical Genetics
    5. Images in Genetics
    6. Original Articles
    7. Short Reports
    8. Letters to the Editor
    1. Neuronal migration defects of the cerebral cortex: a destination debacle (pages 16–24)

      Brian F Uher and Jeffrey A Golden

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.580103.x

  4. Images in Genetics

    1. Top of page
    2. Mini Review
    3. Opinion
    4. Developmental Biology: Frontiers for Clinical Genetics
    5. Images in Genetics
    6. Original Articles
    7. Short Reports
    8. Letters to the Editor
  5. Original Articles

    1. Top of page
    2. Mini Review
    3. Opinion
    4. Developmental Biology: Frontiers for Clinical Genetics
    5. Images in Genetics
    6. Original Articles
    7. Short Reports
    8. Letters to the Editor
    1. Overlap of PIV syndrome, VACTERL and Pallister–Hall syndrome: clinical and molecular analysis (pages 28–30)

      Ce Killoran, M Abbott, Va McKusick and Lg Biesecker

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.580105.x

    2. Multivariate analysis of associations of 42 genes in ADHD, ODD and conduct disorder (pages 31–40)

      David E Comings, Radhika Gade-Andavolu, Nancy Gonzalez, Shijuan Wu, Donn Muhleman, Hezekiah Blake, F Chiu, E Wang, K Farwell, S Darakjy, R Baker, George Dietz, Gerard Saucier and James P MacMurray

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.580106.x

  6. Short Reports

    1. Top of page
    2. Mini Review
    3. Opinion
    4. Developmental Biology: Frontiers for Clinical Genetics
    5. Images in Genetics
    6. Original Articles
    7. Short Reports
    8. Letters to the Editor
    1. Atypical movement disorders in the early stages of Huntington's disease: clinical and genetic analysis (pages 50–56)

      Ferdinando Squitieri, Alfredo Berardelli, Eleonora Nargi, Barbara Castellotti, Caterina Mariotti, Milena Cannella, Maria Luisa Lavitrano, Ugo De Grazia, Cinzia Gellera and Stefano Ruggieri

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.580108.x

    2. Predictive testing for familial adenomatous polyposis in a rural South Indian community (pages 57–60)

      Hs Savithri, Hs Venkatesha Murthy, G Baskaran, N Appaji Rao, D Kool, E Edkins, W Wang and Ah Bittles

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.580109.x

    3. Novel deletional mutation of the MEN1 gene in a kindred with multiple endocrine neoplasia type 1 (pages 61–63)

      Tomoko Kakizawa, Akihiro Sakurai, Yasuto Ikeo, Ichiro Ueno and Kiyoshi Hashizume

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.580110.x

    4. Cortical dysgenesis in 2 patients with chromosome 22q11 deletion (pages 64–68)

      Lynne M. Bird and Peter Scambler

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.580111.x

    5. Sisters homozygous for the spinocerebellar ataxia type 6 (SCA6)/CACNA1A gene associated with different clinical phenotypes (pages 69–73)

      Takeshi Kato, Fumiaki Tanaka, Masahiko Yamamoto, Eiji Yosida, Toshikatsu Indo, Hidetaka Watanabe, Tsuyoshi Yoshiwara, Manabu Doyu and Gen Sobue

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.580112.x

  7. Letters to the Editor

    1. Top of page
    2. Mini Review
    3. Opinion
    4. Developmental Biology: Frontiers for Clinical Genetics
    5. Images in Genetics
    6. Original Articles
    7. Short Reports
    8. Letters to the Editor
    1. Genetic variants of NRAMP1 and active tuberculosis in Japanese populations (pages 74–76)

      Pei-Song Gao, Seitaro Fujishima, Xiao-Quan Mao, Natascha Remus, Mizuo Kanda, Tadao Enomoto, Yukihiro Dake, Nuntio Bottini, Mitsuaki Tabuchi, Naoki Hasegawa, Kazuhiro Yamaguchi, Caroline Tiemessen, Julian M Hopkin, Taro Shirakawa, Fumio Kishi and International Tuberculosis Genetics Team

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.580113.x

    2. Increased urolithiasis in patients with alkaptonuria in childhood (pages 79–80)

      Mirko Zibolen, Klara Srsnova and Stefan Srsen

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.580115.x

    3. Pfeiffer syndrome type 2 associated with a single amino acid deletion in the PGFR2 gene (pages 81–83)

      Manuela Priolo, Margherita Lerone, Maria Baffico, Maurizia Baldi, Roberto Ravazzolo, Armando Cama, Valeria Capra and Margherita Silengo

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.580116.x

    4. Polydactyly in 22q11 syndrome: should it be taken into account? (pages 84–85)

      Silvia Sánchez-Ramón, Joaquín Bartolomé, Manuel Sánchez-Luna, M Luisa Franco, María Orera, Eduardo Fernández-Cruz, Ricardo P Fernández-Pacheco and Juana Gil

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.580117.x

    5. Aspartame loading test in PKU heterozygous individuals bearing severe and moderate mutations (pages 86–88)

      Luiz Carlos Santana da Silva, Tiago Santos Carvalho, Fernanda B. Da Silva, Ricardo Flores Pires, Roberto Giugliani and Maria Luiza Saraiva Pereira

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.580118.x

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