Clinical Genetics

© John Wiley & Sons A/S

Cover image for Clinical Genetics

August 2004

Volume 66, Issue 2

Pages 83–168

  1. Mini Review

    1. Top of page
    2. Mini Review
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Original Articles
    6. Short Reports
    7. Letter to the Editor
    1. Fat chance: genetic syndromes with obesity (pages 83–93)

      M-A Delrue and JL Michaud

      Article first published online: 14 JUL 2004 | DOI: 10.1111/j.0009-9163.2004.00300.x

  2. Developmental Biology: Frontiers for Clinical Genetics

    1. Top of page
    2. Mini Review
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Original Articles
    6. Short Reports
    7. Letter to the Editor
    1. Fishing for new genes in skin biology: impact of cytogenetics on gene discovery : Section Editors: Roderick R McInnes, e-mail: mcinnes@sickkids.on.ca Jacques Michaud, e-mail: jmichaud@justine.umontreal.ca (pages 94–106)

      M Tadin-Strapps, D Warburton, JC Salas-Alanis, LD Lopez-Cepeda and AM Christiano

      Article first published online: 14 JUL 2004 | DOI: 10.1111/j.0009-9163.2004.00301.x

  3. HotSpots

    1. Top of page
    2. Mini Review
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Original Articles
    6. Short Reports
    7. Letter to the Editor
    1. So many asthma loci, so little time (pages 107–108)

      Paul C Orban and William T Gibson

      Article first published online: 25 JUN 2004 | DOI: 10.1111/j.1399-0004.2004.00295a.x

    2. Discovery of a new protein isoform of MeCP2 and exon 1 mutations causing Rett syndrome (pages 108–110)

      Simon Warby

      Article first published online: 25 JUN 2004 | DOI: 10.1111/j.1399-0004.2004.00295b.x

    3. Another four bite the dust: mutations in a ubiquitously expressed filamin protein cause several skeletal dysplasias (pages 110–111)

      William T Gibson

      Article first published online: 25 JUN 2004 | DOI: 10.1111/j.1399-0004.2004.00295c.x

  4. Original Articles

    1. Top of page
    2. Mini Review
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Original Articles
    6. Short Reports
    7. Letter to the Editor
    1. Genetic counseling for familial conditions during pregnancy: an analysis of patient characteristics (pages 112–121)

      CM Aalfs, ED Mollema, FJ Oort, JCJM De Haes, NJ Leschot and EMA Smets

      Article first published online: 14 JUL 2004 | DOI: 10.1111/j.0009-9163.2004.00279.x

    2. Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation (pages 122–127)

      G Borck, M Rio, D Sanlaville, R Redon, F Molinari, D Bacq, O Raoul, V Cormier-Daire, S Lyonnet, J Amiel, M Le Merrer, M-C De Blois, M Prieur, M Vekemans, NP Carter, A Munnich and L Colleaux

      Article first published online: 25 JUN 2004 | DOI: 10.1111/j.1399-0004.2004.00288.x

    3. Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome (pages 128–136)

      SA Yatsenko, AN Yatsenko, K Szigeti, WJ Craigen, P Stankiewicz, SW Cheung and JR Lupski

      Article first published online: 25 JUN 2004 | DOI: 10.1111/j.1399-0004.2004.00290.x

  5. Short Reports

    1. Top of page
    2. Mini Review
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Original Articles
    6. Short Reports
    7. Letter to the Editor
    1. Putative common origin of two MLH1 mutations in Italian-Quebec hereditary non-polyposis colorectal cancer families (pages 137–143)

      I Thiffault, WD Foulkes, VA Marcus, D Farber, L Kasprzak, E MacNamara, N Wong, P Hutter, P Radice, L Bertario and G Chong

      Article first published online: 8 JUN 2004 | DOI: 10.1111/j.1399-0004.2004.00274.x

    2. Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis) (pages 144–151)

      M Faiyaz-Ul-Haque, W Ahmad, SHE Zaidi, S Hussain, S Haque, M Ahmad, DH Cohn and L-C Tsui

      Article first published online: 8 JUN 2004 | DOI: 10.1111/j.1399-0004.2004.00275.x

    3. Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness (pages 152–157)

      P Seeman, M Malíková, D Rašková, O Bendová, D Groh, M Kubálková, I Sakmaryová, E Seemanová and Z Kabelka

      Article first published online: 8 JUN 2004 | DOI: 10.1111/j.1399-0004.2004.00283.x

    4. Enzyme replacement therapy with agalsidase β improves cardiac involvement in Fabry's disease (pages 158–165)

      L Spinelli, A Pisani, M Sabbatini, M Petretta, MV Andreucci, D Procaccini, N Lo Surdo, S Federico and B Cianciaruso

      Article first published online: 8 JUN 2004 | DOI: 10.1111/j.1399-0004.2004.00284.x

  6. Letter to the Editor

    1. Top of page
    2. Mini Review
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Original Articles
    6. Short Reports
    7. Letter to the Editor
    1. Detection of CYP3A4*1B and CYP3A4*2 polymorphisms by RFLP. Distribution frequencies in a Mexican population (pages 166–168)

      OD Reyes-Hernández, G Arteaga-Illán and G Elizondo

      Article first published online: 8 JUN 2004 | DOI: 10.1111/j.1399-0004.2004.00286.x

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