Clinical Genetics

Cover image for Clinical Genetics

September 1995

Volume 48, Issue 3

Pages 113–168

  1. Original Article

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Report on DNA Marker at Candidate Locus
    5. Letter to the Editor
    1. Lack of association of apolipoprotein E polymorphism with plasma Lp(a) levels in the Chinese (pages 113–119)

      C. K. Heng, N. Saha and J. S. H. Tay

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1995.tb04068.x

    2. Retinitis pigmentosa in Spain (pages 120–122)

      C. Ayuso, B. Garcia-Sandoval, C. Najera, D. Valverde, M. Carballo, G. Antiñolo and Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1995.tb04069.x

    3. A rare G6490 [RIGHTWARDS ARROW] substitution at the last nucleotide of exon 10 of the glucocerebrosidase gene in two unrelated Italian Gaucher patients (pages 123–127)

      Marco Seri, Mirella Filocamo, Fabio Corsolini, Bruno Bembi, Cristiana Barbara and Rosanna Gatti

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1995.tb04070.x

    4. A novel insertional mutation of a single base in exon 12 of the dystrophin gene (pages 128–130)

      Adriana Lasa, Pia Gallano, Jaume Colomer and Montserrat Baiget

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1995.tb04071.x

    5. On the nosology of the “primary true microcephaly, chorioretinal dysplasia, lymphoedema” association (pages 131–133)

      Jean-Pierre Fryns, Eric Smeets and H. Van den Berghe

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1995.tb04072.x

    6. Clinical phenotype associated with terminal 2q37 deletion (pages 134–139)

      Beth Conrad, Gordon Dewald, Eric Christensen, Michaelene Lopez, James Higgins and Mary Ella Pierpont

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1995.tb04073.x

    7. Monosomy 21q: two cases of del(21q) and review of the literature (pages 140–147)

      J.-L. Huret, C. Léonard, M. Chery, C. Philippe, E. Schafei-Benaissa, G. Lefaure, B. Labrune and S. Gilgenkrantz

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1995.tb04074.x

    8. Molecular cytogenetic studies of duplication 9q32[RIGHTWARDS ARROW]q34.3 inserted into 9q13 (pages 148–150)

      Jia-Woei Hou and Tso-Ren Wang

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1995.tb04075.x

    9. Cytogenetic and molecular cytogenetic studies of a case of interstitial deletion of proximal 15q (pages 151–155)

      Vijay Tonk, Herman E. Wyandt, Peter Osella, James Skare, Bai Lin Wu, Bassem Haddad and Aubrey Milunsky

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1995.tb04076.x

  2. Case Report

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Report on DNA Marker at Candidate Locus
    5. Letter to the Editor
    1. Joint dislocation and cerebral anomalies are consistently associated with oral-facial-digital syndrome type IV (pages 156–159)

      Maria Cristina Digilio, Aldo Giannotti, Gaetano Pagnotta, Rita Mingarelli and Bruno Dallapiccola

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1995.tb04077.x

    2. Unexpected familial recurrence of iris coloboma. A delayed mutation mechanism? (pages 160–161)

      P. Barros-Nuñez, C. Medina, R. Mendoza, J. Sanchez-Corona and D. Garcia-Cruz

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1995.tb04078.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. Letter to the Editor
    1. A Taql and a BamHI polymorphism in the COL4A4 gene on chromosome 2q35-37 (pages 162–163)

      Jens Michael Hertz, Mariko Mariyama, Anette Thomsen, Stephen T. Reeders and Torben A. Kruse

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1995.tb04079.x

  4. Letter to the Editor

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Report on DNA Marker at Candidate Locus
    5. Letter to the Editor
    1. A case of Alström syndrome associated with diabetes insipidus (pages 164–166)

      F. Müjgan Aynaci, Ayşenur Ökten, Hilal Mocan, Yusuf Gedik and Ahmet Ö. Sarpkaya

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1995.tb04080.x

    2. Sister chromatid exchange in Prader-Willi syndrome families (pages 167–168)

      Sharon L. Wenger

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1995.tb04081.x

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