Clinical Genetics

Cover image for Clinical Genetics

December 1996

Volume 50, Issue 6

Pages 437–559

  1. Original Article

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Report on DNA Marker at Candidate Locus
    5. Short Communication
    6. Letter to the Editor
    1. Craniofacial morphology of the tricho-dento-osseous syndrome (pages 446–454)

      Katherine Kula, Kathie Hall, Thomas Hart and J. Tim Wright

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb02710.x

    2. Recombination between the postulated CCD/MHE/MHS locus and RYR1 gene markers (pages 455–458)

      T.H. Fagerlund, G. Islander, E. Ranklev-Twetman and K. Berg

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb02711.x

    3. The apolipoprotein E gene in Binswanger's disease and vascular dementia (pages 459–461)

      Susumu Higuchi, Hiroyuki Arai, Takuma Nakagawa, Taro Muramatsu, Hidetada Sasaki and John Q. Trojanowski

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb02712.x

    4. Outcomes and process in genetic counselling (pages 462–469)

      Angus Clarke, Evelyn Parsons and Allison Williams

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb02713.x

    5. A history of miscarriages and mild prognathism as possible mode of presentation of mosaic trisomy 18 in women (pages 470–473)

      D. Satge, A. Geneix, J. Goburdhun, P. Lasne-Desmet, C. Rosenthal, R. Arnaud and P. Malet

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb02714.x

    6. Partial deletion of the long arm of chromosome 11: ten Japanese children (pages 474–478)

      Jiro Ono, Tomoko Hasegawa, Seiichi Sugama, Nobuyuki Sagehashi, Yutaka Hase, Kikuko Oku, Yuko Endo, Shozo Ohdo, Satoshi Ishikiriyama, Hiroko Tsukamoto and Shintaro Okada

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb02715.x

    7. Fanconi anemia complementation group E: clinical and cytogenetic data of the first patient (pages 479–482)

      Rolf-Dieter Wegner, Ivo Henrichs, Hans Joenje and Traute Schroeder-Kurth

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb02716.x

    8. APC intragenic haplotypes in familial adenomatous polyposis (pages 483–485)

      Rosário Almeida, Newton Morton, Paulo Fidalgo, Nobre Leitāo, Costa Mira, José Rueff and Carolino Monteiro

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb02717.x

    9. Rett syndrome in Northern Tuscany (Italy): family tree studies (pages 486–490)

      Giorgio Pini, Mario Milan and Michele Zappella

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb02718.x

    10. Further evidence of genetic heterogeneity in hereditary hydronephrosis (pages 491–493)

      Duncan McHale, Mary E. M. Porteous, John Wentzel and John Bum

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb02719.x

    11. Silver-Russell syndrome and exclusion of uniparental disomy (pages 494–497)

      M. L. Ayala-Madrigal, L. G. Shaffer and M. L. Ramírez-Dueñas

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb02720.x

    12. A new autosomal recessive syndrome of pachygyria (pages 498–501)

      R. Straussberg, S. Gross, J. Amir and N. Gadoth

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb02721.x

  2. Case Report

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Report on DNA Marker at Candidate Locus
    5. Short Communication
    6. Letter to the Editor
    1. Respiratory complications of Ehlers-Danlos syndrome type IV (pages 510–514)

      S. Bruce Dowton, Stuart Pincott and Lurie Demmer

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb02724.x

    2. Unusual segregation of t(11;22) resulting from crossing-over followed by 3:1 disjunction at meiosis I (pages 515–519)

      Iskra Petković, Adriana de Capoa, Paola Giancotti and Ingeborg Barišić

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb02725.x

    3. Partial deletion of 18p and partial duplication of 18q caused by a paternal pericentric inversion (pages 520–524)

      Trijn Israëls, Jan Hoovers, Hanne M. Turpijn, Frits A. Wijburg and Raoul C. M. Hennekam

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb02726.x

  3. Short Report on DNA Marker at Candidate Locus

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Report on DNA Marker at Candidate Locus
    5. Short Communication
    6. Letter to the Editor
    1. Identification of a double mutation in the low-density lipoprotein receptor gene causing familial hypercholesterolemia (pages 525–526)

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

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb02727.x

    2. Frequent intragenic polymorphism in the 3‘ untranslated region of the lissencephaly gene 1 (LIS-1) (pages 527–528)

      A. Koch, J. Tonn, S. Albrecht, N. Sörensen, O. D. Wiestler and T. Pietsch

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb02728.x

    3. Dinucleotide repeat polymorphisms at D9S171 and D9S741 are identical (pages 531–532)

      Su-Ying Xu, Manfred Schürmann and Andreas Gal

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb02730.x

    4. A new silent C to T polymorphism in the exon 3 of the oxytocin receptor gene (pages 533–534)

      Wu-Xiang Liao, Ashim C. Roy, Arijit Biswas, Sabaratnam Arulkumaran and Shan S. Ratnam

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb02731.x

  4. Short Communication

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Report on DNA Marker at Candidate Locus
    5. Short Communication
    6. Letter to the Editor
    1. High incidence of pre-excitation syndrome in Japanese families with Leber's hereditary optic neuropathy (pages 535–537)

      Yukihiko Mashima, Kazuteru Kigasawa, Hiroshi Hasegawa, Masato Tani and Yoshihisa Oguchi

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb02732.x

    2. Terminal deletion of the long arm of chromosome 4 in a mother and two sons (pages 538–540)

      Maria Descartes, Kim Keppler-Noreuil, Judith Knops, John W. Longshore, Wayne H. Finley and Andrew J. Carroll

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb02733.x

    3. Insertion/deletion polymorphism in the angiotensin-converting-enzyme gene and blood pressure during ergometry in normal males (pages 541–544)

      Walter Friedl, Franz Krempler, Friedrich Sandhofer and Bernhard Paulweber

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb02734.x

    4. Size of 22q deletions in four previously reported patients with conotruncal anomaly face syndrome (pages 545–547)

      John W. Pierpont, Robert P. Erickson, Floyd H. Thompson and Jin-Ming Yang

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb02735.x

    5. Increased paternal age in CHARGE association (pages 548–550)

      A.L. Tellier, S. Lyonnet, V. Cormier-Daire, P. de Lonlay, V. Abadie, C. Baumann, D. Bonneau, Ph. Labrune, D. Lacombe, M. Le Merrer, A. Nivelon, N. Philip, M. L. Briard and A. Munnich

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb02736.x

    6. Lack of association of angiotensin I-converting enzyme gene polymorphism and premature myocardial infarction in Mauritian Indians (pages 551–554)

      Rajendranath Ramasawmy, Meera Manraj, Navaratnam Kotea, Nathalie Kok Shun, Emmanuelle Genin, Josué Feingold, Rajagopal Krishnamoorthy and Sooriahnarain Baligadoo

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb02737.x

    7. Population variation at the polymorphic ApaLI restriction enzyme site in intron 5 of the WT1 gene (pages 555–557)

      Corinne Besnard-Guérin, Robert Winqvist, Irene Newsham and Webster K. Cavenee

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb02738.x

  5. Letter to the Editor

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Report on DNA Marker at Candidate Locus
    5. Short Communication
    6. Letter to the Editor
    1. CFC syndrome: report of familial cases (pages 558–559)

      Margherita Lecora, Giancarlo Parenti and Generoso Andria

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb02739.x

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