Clinical Genetics

Cover image for Vol. 73 Issue 3

March 2008

Volume 73, Issue 3

Pages 197–296

  1. Review

    1. Top of page
    2. Review
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Perspectives
    6. Original Article
    7. Short Reports
    8. Letters to the Editor
  2. Developmental Biology: Frontiers for Clinical Genetics

    1. Top of page
    2. Review
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Perspectives
    6. Original Article
    7. Short Reports
    8. Letters to the Editor
  3. HotSpots

    1. Top of page
    2. Review
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Perspectives
    6. Original Article
    7. Short Reports
    8. Letters to the Editor
  4. Perspectives

    1. Top of page
    2. Review
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Perspectives
    6. Original Article
    7. Short Reports
    8. Letters to the Editor
  5. Original Article

    1. Top of page
    2. Review
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Perspectives
    6. Original Article
    7. Short Reports
    8. Letters to the Editor
    1. Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population (pages 236–244)

      M Plante, S Claveau, P Lepage, È-M Lavoie, S Brunet, D Roquis, C Morin, H Vézina and C Laprise

      Article first published online: 7 JAN 2008 | DOI: 10.1111/j.1399-0004.2007.00954.x

  6. Short Reports

    1. Top of page
    2. Review
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Perspectives
    6. Original Article
    7. Short Reports
    8. Letters to the Editor
    1. A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene (pages 245–250)

      I Brun-Heath, E Chabrol, M Fox, K Drexler, C Petit, A Taillandier, P De Mazancourt, J-L Serre and E Mornet

      Article first published online: 7 OCT 2007 | DOI: 10.1111/j.1399-0004.2007.00902.x

    2. Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula (pages 251–256)

      M Mangas, C Nogueira, MJ Prata, L Lacerda, MJ Coll, G Soares, G Ribeiro, O Amaral, C Ferreira, C Alves, MF Coutinho and S Alves

      Article first published online: 24 JAN 2008 | DOI: 10.1111/j.1399-0004.2007.00951.x

    3. Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome (pages 257–261)

      S Takahashi, J Ohinata, Y Makita, N Suzuki, A Araki, A Sasaki, K Murono, H Tanaka and K Fujieda

      Article first published online: 8 JAN 2008 | DOI: 10.1111/j.1399-0004.2007.00944.x

    4. Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes (pages 262–267)

      L Olavarrieta, C Morales-Angulo, I Del Castillo, F Moreno and MA Moreno-Pelayo

      Article first published online: 30 DEC 2007 | DOI: 10.1111/j.1399-0004.2007.00947.x

    5. Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia (pages 268–272)

      DVK Pantakani, U Zechner, L Arygriou, S Pauli, SM Sauter and AU Mannan

      Article first published online: 9 JAN 2008 | DOI: 10.1111/j.1399-0004.2007.00953.x

    6. MMP2 promoter polymorphism (C-1306T) and risk of recurrence in patients with hepatocellular carcinoma after transplantation (pages 273–278)

      LM Wu, F Zhang, HY Xie, X Xu, QX Chen, SY Yin, XC Liu, L Zhou, XB Xu, YL Sun and SS Zheng

      Article first published online: 3 JAN 2008 | DOI: 10.1111/j.1399-0004.2007.00955.x

    7. Genotype–phenotype correlation in five Pelizaeus–Merzbacher disease patients with PLP1 gene duplications (pages 279–287)

      S Regis, R Biancheri, E Bertini, A Burlina, S Lualdi, MG Bianco, R Devescovi, A Rossi, G Uziel and M Filocamo

      Article first published online: 9 JAN 2008 | DOI: 10.1111/j.1399-0004.2007.00961.x

  7. Letters to the Editor

    1. Top of page
    2. Review
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Perspectives
    6. Original Article
    7. Short Reports
    8. Letters to the Editor
    1. Three new patients with dup(17)(p11.2p11.2) without autism (pages 294–296)

      D Greco, C Romano, S Reitano, C Barone, DD Benedetto, L Castiglia, M Fichera, O Galesi, M Zingale, S Buono, V Uliana, R Caselli, R Canitano, G Hayek and A Renieri

      Article first published online: 24 JAN 2008 | DOI: 10.1111/j.1399-0004.2007.00959.x

SEARCH

SEARCH BY CITATION