Clinical Genetics

Cover image for Clinical Genetics

February 1997

Volume 51, Issue 2

Pages 81–143

  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. Mutation of RET codon 768 is associated with the FMTC phenotype (pages 81–85)

      Lara M. Boccia, Jane S. Green, Carol Joyce, Charts Eng, Sherryl A. M. Taylor and Lois M. Mulligan

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02424.x

    2. A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis (pages 86–90)

      Marco Seri, Iacopo Celli, Nicola Betsos, Franco Claudiani, Gianni Camera and Giovanni Romeo

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02425.x

    3. Centromeric alphoid DNA heteromorphisms of chromosome 21 revealed by FISH-technique (pages 91–93)

      Ram S. Verma, Sat Dev Batish, Swarna K. Gogineni, Svetlana M. Kleyman and Daniel G. Stetka

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02426.x

    4. Genetic epidemiology of Duchenne and Becker muscular dystrophy in Slovenia (pages 94–97)

      B. Peterlin, J. Zidar, M. Meznarič-Petruša and N. Zupančič

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02427.x

    5. Congenital intractable diarrhea of infancy in Iraqi Jews (pages 98–101)

      Rachel Straussberg, Rivka Shapiro, Jacob Amir, Anita Yonash, Avinoam Rachmel, William M. Bisset and Itzhak Varsano

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02428.x

    6. Clinical variability of tetrasomy 12p (pages 102–108)

      G. B. Schaefer, A. Jochar, R. Muneer and W. G. Sanger

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02429.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. Congenital cutis laxa and lysyl oxidase deficiency (pages 109–114)

      Abbas Khakoo, Roswyn Thomas, Richard Trompeter, Patrick Duffy, Robert Price and F. Michael Pope

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02430.x

    2. Prenatal diagnosis of a de novo trisomy 6q22.2[RIGHTWARDS ARROW]6qter and monosomy lpter[RIGHTWARDS ARROW]1p36.3. Case report with a 2-year follow-up and a brief review of other prenatal cases of partial trisomy 6q (pages 115–117)

      Anita S. Kulharya, Mary E. Carlin, William A. Stettler, Martine Huslig, Mary K. Kukolich and Jaime Garcia-Heras

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02431.x

    3. A new case of oculocerebral hypopigmentation syndrome (Cross syndrome) with additional findings (pages 118–121)

      I. Tezcan, E. Demir, E. Aşan, G. Kale, S. F. Müftüoǧlu and E. Kotiloglu

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02432.x

    4. Möbius-like syndrome associated with a 1;2 chromosome translocation (pages 122–123)

      Miki Nishikawa, Takashi Ichiyama, Takashi Hayashi and Susumu Furukawa

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02433.x

    5. Detection of SRY in 45, X/47, XYY mosaicism leading to phenotypic female (pages 124–126)

      Atsushi Imai, Shinji Horibe, Tatsuo Fuseya, Hiroshi Takagi, Atsushi Takagi and Teruhiko Tamaya

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02434.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 novel polymorphism (1121 C/T) in intron 3 of the human apolipoprotein A-l gene (pages 127–128)

      Corradino Motti, Cristiano Bette, Letizia Biagiotti, Agostino Gnasso, Arturo Pujia, Giorgio Federici and Claudio Cortese

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02435.x

    2. Mspl identifies a biallelic polymorphism in the promoter region of the α2A-adrenergic receptor gene (pages 129–130)

      Sergio Lario, Jordi Calls, Aleix Cases, Josep Oriola, Albert Torras and Francisca Rivera

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02436.x

    3. A highly polymorphic (CA) repeat sequence in the human lysyl oxidase-like gene (pages 131–132)

      Youngho Kim, Charles D. Boyd and Katalin Csiszar

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02437.x

    4. A tetranucleotide repeat polymorphism within the human elastin gene (ELNi1) (pages 133–134)

      Zsolt Urban, Katalin Csiszár, György Fekete and Charles D. Boyd

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02438.x

    5. SSCP variants within the α4 subunit of the neuronal nicotinic acetylcholine receptor gene (pages 135–136)

      Hilary A. Phillips and John C. Mulley

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02439.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. Dandy-Walker malformation and postaxial Polydactyly: nosological comments (page 139)

      Jean-Pierre Fryns

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02441.x

    2. Chromosome 21 and platelets: a gene dosage effect? (pages 140–141)

      J. L. Huret and C. Léonard

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02442.x

    3. Microcephaly and intracranial calcification: two new cases (pages 142–143)

      K. Monastiri, N. Salem, S. Korbi and N. Snoussi

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02443.x

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