Clinical Genetics

Cover image for Clinical Genetics

May 1999

Volume 55, Issue 5

Pages 289–389

  1. Original Articles

    1. Top of page
    2. Original Articles
    3. Short Reports
    4. Original Articles
    5. Letters to the Editor
    6. Announcements
    1. HotSpots (pages 305–308)

      David Gurwitz

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.550502.x

    2. Founder BRCA1 and BRCA2 mutations in French Canadian ovarian cancer cases unselected for family history (pages 318–324)

      Patricia N Tonin, Anne-Marie Mes-Masson, Steven A Narod, Parviz Ghadirian and Diane Provencher

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.550504.x

    3. Three novel small deletion mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia (pages 325–331)

      Jae Jin Chae, Sung Han Kim, Un Kyung Kim, Ki-Hoon Han, Hyo-Soo Kim, Daniel L. Kastner, Yong Namkoong, Young-Bae Park and Chung Choo Lee

      Version of Record online: 22 SEP 2008 | DOI: 10.1034/j.1399-0004.1999.550505.x

    4. An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F) (pages 332–339)

      Ulf Ekström, Magnus Abrahamson, Claes-Henrik Florén, Henrik Tollig, Göran Wettrell, Gerd Nilsson, Xi-Ming Sun, Anne K Soutar and Peter Nilsson-Ehle

      Version of Record online: 22 SEP 2008 | DOI: 10.1034/j.1399-0004.1999.550506.x

    5. Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry (pages 340–345)

      Odell Loubser, A David Marais, Maritha J Kotze2, Nicole Godenir, Rochelle Thiart2, Charlotte L Scholtz2, J Nico P De Villiers2, Renate Hillermann2, Jean C Firth, Hellmuth Fh Weich, Frans Maritz, Sheena Jones2 and Deneys R Van Der Westhuyzen

      Version of Record online: 22 SEP 2008 | DOI: 10.1034/j.1399-0004.1999.550507.x

  2. Short Reports

    1. Top of page
    2. Original Articles
    3. Short Reports
    4. Original Articles
    5. Letters to the Editor
    6. Announcements
    1. Tissue-specific methylation differences in a fragile X premutation carrier (pages 346–352)

      Flora Tassone, John Longshore, Janice Zunich, Peter Steinbach, Ulrike Salat and Annette K Taylor

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.550508.x

    2. Allele distribution at the FMR1 locus in the general Chinese population (pages 353–356)

      Shu-Chuan Chiang, Yu-May Lee, Tso-Ren Wang and Wuh-Liang Hwu

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.550509.x

    3. FISH and PCR analysis of the presence of Y-chromosome sequences in a patient with Xq-isochromosome and testicular tissue (pages 357–362)

      Francisco Álvarez-Nava, María C Martínez, Sandra González, Marisol Soto, Lisbeth Borjas and Alicia Rojas

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.550510.x

  3. Original Articles

    1. Top of page
    2. Original Articles
    3. Short Reports
    4. Original Articles
    5. Letters to the Editor
    6. Announcements
    1. Characterisation, phenotypic manifestations and X-inactivation pattern in 14 patients with X-autosome translocations (pages 363–367)

      Burga Kalz-Füller, Eva Sleegers, Gesa Schwanitz and Regine Schubert

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.550511.x

    2. Pure trisomy 10p involving an isochromosome 10p (pages 367–371)

      Sue Ann Berend, Lisa G Shaffer and Bassem A Bejjani

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.550512.x

    3. Partial trisomy 17p detected by spectral karyotyping (pages 372–375)

      Susan H Morelli, Debra A Deubler, Lisa J Brothman, John C Carey and Arthur R Brothman

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.550513.x

    4. High frequency of de novo deletions in Mexican Duchenne and Becker muscular dystrophy patients. Implications for genetic counseling (pages 377–381)

      Ma Alcántara, Mt Villarreal, V Del Castillo, G Gutiérrez, Y Saldaña, I Maulen, R Lee, M Macías and L Orozco

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.550514.x

  4. Letters to the Editor

    1. Top of page
    2. Original Articles
    3. Short Reports
    4. Original Articles
    5. Letters to the Editor
    6. Announcements
  5. Announcements

    1. Top of page
    2. Original Articles
    3. Short Reports
    4. Original Articles
    5. Letters to the Editor
    6. Announcements
    1. Ethics and genetics: Advanced European bioethics course (page 389)

      An Author

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.550518.x

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