Clinical Genetics

Cover image for Clinical Genetics

October 1996

Volume 50, Issue 4

Pages 169–279

  1. Original Article

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Communication
    5. Letter to the Editor
    1. DNA testing in familial hypertrophic cardiomyopathy: clinical and laboratory implications (pages 169–175)

      R.V. Smart, B. Yu, H. Le, J. A. French, D. R. Richmond, R. W. Jeremy, C. Semsarian, L. Cheung, D. A. Ross and R. J. Trent

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb02621.x

    2. Nonsyndromic X-linked mental retardation: review and mapping of MRX29 to Xp21 (pages 176–183)

      B. Häne, R. J. Schroer, J. F. Arena, H. A. Lubs, C. E. Schwartz and R. E. Stevenson

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb02622.x

    3. DNA polymorphisms in linkage disequilibrium at the 3‘ end of the human APO AII gene: relationships with lipids, apolipoproteins and coronary heart disease (pages 191–198)

      A. M. Dupuy-Gorce, E. Desmarais, S. Vigneron, C. Buresi, V. Nicaud, A. Evans, G. Luc, D. Arveiler, P. Marqués-Vidal, F. Cambien, L. Tiret, A. Crastes de Paulet and G. Roizés

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb02624.x

    4. Reduction of CAG expansions in cerebellar cortex and spinal cord of DRPLA (pages 199–201)

      M. Aoki, K. Abe, M. Tobita, T. Kameya, M. Watanabe and Y. Itoyama

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb02625.x

    5. Rapid detection of a mutation hot-spot in the human androgen receptor (pages 202–205)

      Helena Malmgren, Jan Gustavsson, Torsten Tuvemo and Niklas Dahl

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb02626.x

    6. Genetic analysis of the glucose-6-phosphatase mutation of type la glycogen storage disease in a Chinese family (pages 206–211)

      Wen-Jane Lee, Hsien-Ming Lee, Ching-Shiang Chi, San-Ging Shu, Lih-Yaun Lin and Wen-Han Lin

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb02627.x

  2. Case Report

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Communication
    5. Letter to the Editor
    1. Distinct facial appearance with nasal hypoplasia, constipation, severe mental retardation and hypotonia in two unrelated young males (pages 212–216)

      Jean-Pierre Fryns, Chantal De Troch, Christine Van Mol and Luc Vandenbossche

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb02628.x

    2. The Floating-Harbor syndrome: two affected siblings in a family (pages 217–219)

      J. P. Fryns, A. Kleczkowska, J. Timmermans and H. van den Berghe

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb02629.x

    3. Partial monosomy 10q and partial trisomy 9q with anal atresia due to maternal translocation: t(9;10)(q32;q26) (pages 220–222)

      Toshinori Tsukuda, Ikuo Nagata, Hiroshi Sawada, Jun Murakami, Keiichi Hanaki, Hirofumi Urashima, Tomoharu Kaneda, Norio Shimizu, Nobuaki Kaibara, Nagao Kodama, Takehiko Ohzeki and Kazuo Shiraki

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb02630.x

    4. Keipert syndrome in two brothers from Turkey (pages 223–228)

      Sevim Balci and Safak Dagli

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb02631.x

    5. Three familial cases presenting with an immobile spine. Rigid spine or Emery-Dreifuss syndrome? (pages 229–231)

      M. Spranger, S. Spranger, J. Ziegan, J. Lössner and H.-M. Meinck

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb02632.x

    6. Down syndrome associated with a retroperitoneal teratoma and Morgagni hernia (pages 232–234)

      B. S. Quah and B. S. Menon

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb02633.x

    7. Siblings with congenital renal tubular acidosis and nerve deafness (pages 235–239)

      C. Stoll, A. Gentine and J. Geisert

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb02634.x

    8. COFS syndrome with familial 1;16 translocation (pages 240–243)

      S. A. Temtamy, N. A. Meguid, A. Mahmoud, H. H. Afifi, A. Gerzawy and M. S. Zaki

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb02635.x

    9. Life-threatening cardiac involvement throughout life in a case of Costello syndrome (pages 244–247)

      Toshiyuki Fukao, Shinji Sakai, Nobuyuki Shimozawa, Takashi Kuwahara, Masatsugu Kano, Emiko Goto, Yoshihiro Nakashima, Mayumi Katagiri-Kawade, Hiroshi Ichihashi, Mitsuo Masuno, Tadao Orii and Naomi Kondo

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb02636.x

    10. A case report of 46, XX, del (21)(q22) de novo deletion associated with Imerslund-Grasbeck syndrome (pages 248–250)

      Figen Celep, Ahmet Karagüzel, F. Müjgan Aynaci and Erol Erduran

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb02637.x

    11. Nosology of fetal hypokinesia sequence based on CNS abnormalities: is there an Aase-Smith syndrome? (pages 251–254)

      Albert David, Marie-Françoise Nombalais, Jean-Marie Rival and Alain Verloes

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb02638.x

    12. Desbuquois syndrome in an Arab Bedouin family (pages 255–259)

      L I. Al-Gazeli, S. A. A. Aziz and D. Bakalinova

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb02639.x

  3. Short Communication

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Communication
    5. Letter to the Editor
    1. Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes (pages 263–266)

      Toshiyuki Fukao, Akihiko Kodama, Noriyuki Aoyanagi, Ryu-ichi Tsukino, Shigeru Uemura, Xiang-Qian Song, Hiroh Watanebe, Tomiko Kuhara, I. Matsumoto, Tadao Orii and Naomi Kondo

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb02641.x

    2. FISH characterization of the Xq21 breakpoint in a translocation carrier with premature ovarian failure (pages 267–269)

      P. Riva, I. Magnani, A. M. Fuhrmann Conti, D. Gelli, C. Sala, D. Toniolo and L. Larizza

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb02642.x

  4. Letter to the Editor

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Communication
    5. Letter to the Editor
    1. Clinical features in the Wiedemann-Beckwith syndrome (pages 272–274)

      Roberto Martinezy Martinez

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb02644.x

    2. Predictive and preimplantation genetic testing for Huntington's disease and other late onset dominant disorders: not in conflict but complementary (pages 275–276)

      G. Evers-Kiebooms, J.P. Fryns, K. Demyttenaere, M. Decruyenaere, A. Boogaerts, T. Cloostermans, J. J. Cassiman, R. Dom and H. van den Berghe

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb02645.x

    3. Antley-Bixler syndrome (page 277)

      T. Mattina, M. Pierluigi, C. Perfumo, D. Mazzone, S. Scardilli and F. Mollica

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb02646.x

    4. Congenital heart defect and conductive hypoacusia in a patient with the KBG syndrome (pages 278–279)

      M. Refugio Rivera-Vega, N. Leyva Juarez, Sergio A. Cuevas-Covarrubias and Susana H. Kofman-Alfaro

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb02647.x

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