Clinical Genetics

Cover image for Clinical Genetics

May 2000

Volume 57, Issue 5

Pages 313–408

  1. Mini Review

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Developmental Biology: Frontiers for Clinical Genetics
    5. Images in Genetics
    6. Original Articles
    7. Short Reports
    8. Letters to the Editor
    1. Recent advances in the molecular basis of inherited photoreceptor degeneration (pages 313–329)

      Geoff Clarke, Elise Héon and Roderick R McInnes

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.570501.x

  2. HotSpots

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Developmental Biology: Frontiers for Clinical Genetics
    5. Images in Genetics
    6. Original Articles
    7. Short Reports
    8. Letters to the Editor
    1. Oligonucleotide microarrays bring new insights to old mice (pages 332–335)

      Edmond Yw Chan

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.570502.1.x

    2. Finding our SNPs using oligonucleotide microarrays (pages 335–336)

      Edmond Yw Chan

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.570502.2.x

  3. Developmental Biology: Frontiers for Clinical Genetics

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

    1. Top of page
    2. Mini Review
    3. HotSpots
    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. HotSpots
    4. Developmental Biology: Frontiers for Clinical Genetics
    5. Images in Genetics
    6. Original Articles
    7. Short Reports
    8. Letters to the Editor
    1. Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15 (pages 349–358)

      Wendy P. Robinson, Susan L. Christian, Brian D. Kuchinka, Maria S. Peñaherrera, Soma Das, Simone Schuffenhauer, Susan Malcolm, Albert A. Schinzel, Terry J. Hassold and David H. Ledbetter

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.570505.x

    2. Aberrant SP-B mRNA in lung tissue of patients with congenital alveolar proteinosis (CAP) (pages 359–369)

      Z Lin, De DeMello, Jr Batanian, Hm Khammash, S DiAngelo, J Luo and J Floros

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.570506.x

    3. Genetic testing, ethical concerns, and the role of patent law (pages 370–375)

      Timothy A Caulfield and E Richard Gold

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.570507.x

    4. Perceptions of Ashkenazi Jewish breast cancer patients on genetic testing for mutations in BRCA1 and BRCA2 (pages 376–383)

      Kelly-Anne Phillips, Ellen Warner, Wendy S Meschino, Jon Hunter, Mohamed Abdolell, Gordon Glendon, Irene L Andrulis and Pamela J Goodwin

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.570508.x

  6. Short Reports

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Developmental Biology: Frontiers for Clinical Genetics
    5. Images in Genetics
    6. Original Articles
    7. Short Reports
    8. Letters to the Editor
    1. Clinical presentation and mutation identification in the NBS1 gene in a boy with Nijmegen breakage syndrome (pages 384–387)

      Saskia Kleier, M Herrmann, B Wittwer, R Varon, A Reis and J Horst

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.570509.x

    2. Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency (pages 388–393)

      Małgorzata Jm Nowaczyk, Marlene J Huggins, Darrell J Tomkins, Elena Rossi, Jennifer A Ramsay, John Woulfe, Stephen W Scherer and Elena Belloni

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.570510.x

    3. A novel mutation in the HEXA gene specific to Tay–Sachs disease carriers of Jewish Iraqi origin (pages 398–400)

      M. Karpati, L. Peleg, E. Gazit, E. Akstein and B. Goldman

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.570512.x

    4. Mild phenotype in two siblings with distal monosomy 12p13.31[RIGHTWARDS ARROW]pter (pages 401–405)

      Ian A. Glass, Adrian Trenholme, Lindsay Mildenhall, Richard J. Bailey and Philip D. Cotter

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.570513.x

  7. Letters to the Editor

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Developmental Biology: Frontiers for Clinical Genetics
    5. Images in Genetics
    6. Original Articles
    7. Short Reports
    8. Letters to the Editor
    1. A patient with maternal chromosome 14 UPD presenting with a mild phenotype and MODY (pages 406–408)

      Marco F Manzoni, Tiziano Pramparo, Antonella Stroppolo, Flavio Chiaino, Emanuele Bosi, Orsetta Zuffardi and Romeo Carrozzo

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.570514.x

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