Clinical Genetics

Cover image for Clinical Genetics

April 1997

Volume 51, Issue 4

Pages 219–290

  1. Original Article

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Communication
    5. Short Report on DNA Marker at Candidate Locus
    6. Letter to the Editor
    1. Analysis of the (CAG)n repeat causing Huntington's disease in a Mexican population (pages 225–230)

      Ma Elisa Alonso, Petra Yescas, Bulmaro Cisneros, Claudia Martínez, Guadalupe Silva, Adriana Ochoa and Cecilia Montañez

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02459.x

    2. Evaluation of an aspartame loading test for the detection of heterozygotes for classical phenylketonuria (pages 231–235)

      L C. S. Silva, R. F. Pires, J. C. Coelho, L B. Jardim and R. Giugliani

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02460.x

    3. The atherogenic lipoprotein phenotype is not caused by a mutation in the coding region of the low density lipoprotein receptor gene (pages 236–240)

      Jürgen K. Naggert, Adrian Recinos III, Jane E. Lamerdin, Ronald M. Krauss and Patsy M. Nishina

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02461.x

    4. The cholesteryl ester transfer protein (CETP) locus as a candidate gene in abdominal aortic aneurysm (pages 241–245)

      Dorothy Ramsbottom, Anne O'Neill, Donna M. Sexton, Rafael A. Gafoor, David Bouchier-Hayes and David T. Croke

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02462.x

    5. Submicroscopic deletion in chromosome 22q11 in trizygous triplet siblings and their father Clinical variability of 22q11 deletion (pages 246–249)

      K. Devriendt, R. Van Hoestenberghe, C. Van Hole, H. Devlieger, M. Gewillig, Ph. Moerman, H. Van den Berghe and J. P. Fryns

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02463.x

    6. Reciprocal translocation 4; 11 with both adjacent-1 segregants viable within a family (pages 250–256)

      Jill Cellars Rogers, David J. Harris and Linda M. Pasztor

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02464.x

    7. Case Report: Corroboration of the lower extremity counterpart of the Poland sequence (pages 257–259)

      J. Román Corona-Rivera, Alfredo Corona-Rivera, Sylvia E. Totsuka-Sutto and Enrique Corona-Rivera

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02465.x

    8. Case Report: Prenatal diagnosis of mosaic tetrasomy 21q confirmed by fluorescence in situ hybridization (pages 260–263)

      Nimesh P. Nagarsheth and Hamid Mootabar

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02466.x

    9. Case Report: Two newborns with chromosome 4 imbalances: deletion 4q33 [RIGHTWARDS ARROW] q35 and ring r (4) (pterq35.2-qter) (pages 264–267)

      G. Calabrese, A. Giannotti, R. Mingarelli, M. C. Di Gilio, M. R. Piemontese and G. Palka

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02467.x

  2. Case Report

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Communication
    5. Short Report on DNA Marker at Candidate Locus
    6. Letter to the Editor
    1. Ohdo syndrome: report on a Brazilian girl with additional findings (pages 268–270)

      Vera Lúcia Gil da Silva Lopes and Maria Leine Guion-Almeida

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02468.x

    2. Vocal cord paralysis and cystic kidney disease in Hajdu-Cheney syndrome (pages 271–274)

      Jean-Pierre Fryns, Christel Stinckens and Louw Feenstra

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02469.x

    3. Prenatal detection of double aneuploidy trisomy 10/monosomy X in a liveborn twin with exclusively monosomy X in blood (pages 275–277)

      G. Mielke, H. Enders, R. Goelz, U. Klein-Vogler, R. Ulmer and U. Trautmann

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02470.x

    4. Marinesco-Sjögren syndrome associated with acute mveloblastic leukemia (pages 278–280)

      Seiji Fukuda, Yukiji Yamada, Masaaki Nishimura, Koji Isogai, Tomonori Terada, Masako Iwata, Nobuyuki Shimozawa, Yasuyuki Suzuki and Naomi Kondo

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02471.x

  3. Short Communication

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Communication
    5. Short Report on DNA Marker at Candidate Locus
    6. Letter to the Editor
    1. Complex chromosome rearrangement involving chromosomes 1, 4 and 16 revealed by fluorescence in situ hybridization (pages 281–285)

      T. Johannesson, S. Ehlers and J. Wahlström

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02472.x

  4. Short Report on DNA Marker at Candidate Locus

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Communication
    5. Short Report on DNA Marker at Candidate Locus
    6. Letter to the Editor
    1. A novel V415A mutation in exon 9 of the low density lipoprotein receptor gene causing familial hypercholesterolemia (pages 286–287)

      P. Lombardi, J.C. Defesche, S.W.A. Kamerling, J.J.P. Kastelein and L.M. Havekes

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02473.x

    2. Detection of an EcoRI restriction fragment length polymorphism in the gene encoding the human TBP associated factor II 30 (TAFII30) (pages 288–289)

      Valérie Chéhensse, Caroline Boulvin, Sandrine Luce, Lazlo Tora, Claudine Junien and Isabelle Henry

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02474.x

  5. Letter to the Editor

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Communication
    5. Short Report on DNA Marker at Candidate Locus
    6. Letter to the Editor
    1. Terminal 2q deletion-a recognizable syndrome (page 290)

      Sharon L. Wenger, Leslie Y. Boone, Urvashi Surti and Mark W. Steele

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02475.x

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