Clinical Genetics

Cover image for Clinical Genetics

June 1997

Volume 51, Issue 6

Pages 365–431

  1. Original Article

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Report on DNA Marker at Candidate Locus
    1. Malignant hyperthermia susceptibility, an autosomal dominant disorder? (pages 365–369)

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

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02492.x

    2. Association of the renin gene polymorphism with essential hypertension in a Chinese population (pages 370–374)

      Fu-Tien Chiang, Kwan-Lih Hsu, Chuen-Den Tseng, Huey-Ming Lo, Tser-Hau Chern and Yung-Zu Tseng

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02493.x

    3. Extending the overlap of three congenital overgrowth syndromes (pages 375–378)

      Brian Coppin, Isabella Moore and Eli Hatchwell

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02494.x

    4. Photoanthropometric study of craniofacial traits in individuals with Williams syndrome (pages 379–387)

      Christopher L Hovis and Merlin G. Butler

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02495.x

    5. On the many faces of Leber hereditary optic neuropathy (pages 388–393)

      R.J. Oostra, N.T. Tijmes, J.M. Cobben, P.A. Boihuis, B.P.M. van Nesselrooij, W.A. Houtman, M.M. de Kok-Nazaruk and E.M. Bleeker-Wagemakers

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02496.x

    6. CpG hotspot mutations at the LDL receptor locus are a frequent cause of familial hypercholesterolemia among South African Indians (pages 394–398)

      Maritha J. Kotze, Odell Loubser, Rochelle Thiart, J. Nico P. de Villiers, Elzet Langenhoven, Leonora Theart, Krisela Steyn, A. David Marais and Frederick J. Raal

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02497.x

    7. Codon 89 polymorphism of the human 5α-steroid reductase type 2 gene (pages 399–402)

      F. Vilchis, D. Hernández, P. Canto, J.P. Méndez and B. Chávez

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02498.x

  2. Case Report

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Report on DNA Marker at Candidate Locus
    1. Three cases of trisomy 13 mosaicism and a review of the literature (pages 403–407)

      M. Delatycki and R. J. M. Gardner

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02499.x

    2. Polycystic kidney disease, biliary dysgenesis in a patient with Larsen's syndrome (pages 408–411)

      Selim Kurtoglu, Munis Dundar, I. Kuttulus. Hallaç, Kazim Üzüm, Yüksel Okumus and Turhan Öktem

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02500.x

    3. A case of Carpenter syndrome diagnosed in a 20-week-old fetus with postmortem examination (pages 412–416)

      S. Balci, B. Önol, M. Eryilmaz and T. Haytoglu

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02501.x

    4. A case of mosaic trisomy 2 diagnosed at amniocentesis in an abnormal fetus and confirmed in multiple fetal tissues (pages 417–420)

      Jacqueline Robinson, Helen Stewart, Lynette Moore and Lorraine Gaunt

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02502.x

    5. Recurrent brachial plexus neuropathy in a family with subtle dysmorphic features-a case of hereditary neuralgic amyotrophy (pages 421–425)

      Kristin Ørstavik, Hans Ro and Karen Helene Ørstavik

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02503.x

    6. Identification of the parental origin of polysomy in two 49,XXXXY cases (pages 426–429)

      Arzu Çelik, Serpil Eraslan, Nalan Gökgöz, Hatice Ilgin, Seher Baçaran, Işik Bökesoy, Hülya Kayserili, Memnune Yüksel-Apak and Betül Kirdar

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02504.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
    1. A novel mutation M-21V in exon 1 of the low density lipoprotein receptor gene causing familial hypercholesterolemia (pages 430–431)

      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.tb02505.x

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