Clinical Genetics

Cover image for Vol. 75 Issue 2

February 2009

Volume 75, Issue 2

Pages 101–208

  1. Review

    1. Top of page
    2. Review
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Original Articles
    6. Short Reports
    7. Letters to the Editor
    8. Response to Letter
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      Finding genes underlying human disease (pages 101–106)

      CM Stein and RC Elston

      Version of Record online: 9 SEP 2008 | DOI: 10.1111/j.1399-0004.2008.01083.x

  2. Developmental Biology: Frontiers for Clinical Genetics

    1. Top of page
    2. Review
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Original Articles
    6. Short Reports
    7. Letters to the Editor
    8. Response to Letter
    1. Cystic kidney diseases and planar cell polarity signaling (pages 107–117)

      RL Bacallao and H McNeill

      Version of Record online: 23 JAN 2009 | DOI: 10.1111/j.1399-0004.2008.01148.x

  3. HotSpots

    1. Top of page
    2. Review
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Original Articles
    6. Short Reports
    7. Letters to the Editor
    8. Response to Letter
    1. Digital clubbing: finally, a gene (pages 119–121)

      RA Stein

      Version of Record online: 23 JAN 2009 | DOI: 10.1111/j.1399-0004.2008.01140_2.x

    2. A short-lived mRNA linked to blindness (pages 121–123)

      RA Stein

      Version of Record online: 23 JAN 2009 | DOI: 10.1111/j.1399-0004.2008.01140_3.x

  4. Original Articles

    1. Top of page
    2. Review
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Original Articles
    6. Short Reports
    7. Letters to the Editor
    8. Response to Letter
    1. Genetic analysis of first-trimester miscarriages with a combination of cytogenetic karyotyping, microsatellite genotyping and arrayCGH (pages 133–140)

      Y-X Zhang, a,b Y-P Zhang, c Y Gu, c F-J Guan, d S-L Li, d J-S Xie, d Y Shen, e B-L Wu, e W Ju, f EC Jenkins, f WT Brown and f N Zhong a,b,f

      Version of Record online: 13 JAN 2009 | DOI: 10.1111/j.1399-0004.2008.01131.x

    2. Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations (pages 141–149)

      E Barrow, L Robinson, W Alduaij, A Shenton, T Clancy, F Lalloo, J Hill and DG Evans

      Version of Record online: 13 JAN 2009 | DOI: 10.1111/j.1399-0004.2008.01125.x

  5. Short Reports

    1. Top of page
    2. Review
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Original Articles
    6. Short Reports
    7. Letters to the Editor
    8. Response to Letter
    1. Clinical and Molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal (pages 150–156)

      MR Almeida, AB Campos-Xavier, A Medeira, I Cordeiro, AB Sousa, M Lima, G Soares, M Rocha, J Saraiva, L Ramos, S Sousa, JP Marcelino, A Correia and HG Santos

      Version of Record online: 13 JAN 2009 | DOI: 10.1111/j.1399-0004.2008.01123.x

    2. Spectrum of novel mutations in the human PKLR gene in pyruvate kinase-deficient Indian patients with heterogeneous clinical phenotypes (pages 157–162)

      P Kedar, T Hamada, P Warang, A Nadkarni, K Shimizu, H Fujji, K Ghosh, H Kanno and R Colah

      Version of Record online: 28 AUG 2008 | DOI: 10.1111/j.1399-0004.2008.01079.x

    3. Mitochondrial haplogroup is associated with the phenotype of familial amyloidosis with polyneuropathy in Swedish and French patients (pages 163–168)

      M Olsson, U Hellman, V Planté-Bordeneuve, J Jonasson, K Lång and OB Suhr

      Version of Record online: 13 NOV 2008 | DOI: 10.1111/j.1399-0004.2008.01097.x

    4. Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy (pages 175–179)

      A-M Bisgaard, M Kirchhoff, JE Nielsen, M Kibæk, A Lund, M Schwartz and E Christensen

      Version of Record online: 26 NOV 2008 | DOI: 10.1111/j.1399-0004.2008.01113.x

    5. Congenital gastrointestinal defects in Down syndrome: a report from the Atlanta and National Down Syndrome Projects (pages 180–184)

      SB Freeman, CP Torfs, PA Romitti, MH Royle, C Druschel, CA Hobbs and SL Sherman

      Version of Record online: 19 NOV 2008 | DOI: 10.1111/j.1399-0004.2008.01110.x

    6. Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11 (pages 185–189)

      KA Schrader, TN Nelson, A De Luca, DG Huntsman and BC McGillivray

      Version of Record online: 3 DEC 2008 | DOI: 10.1111/j.1399-0004.2008.01100.x

    7. PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings (pages 190–194)

      KA Lee, B Williams, K Roza, H Ferguson, K David, K Eddleman, J Stone, L Edelmann, G Richard, BD Gelb and R Kornreich

      Version of Record online: 28 AUG 2008 | DOI: 10.1111/j.1399-0004.2008.01085.x

    8. Novel PTEN mutations in neurodevelopmental disorders and macrocephaly (pages 195–198)

      A Orrico, L Galli, S Buoni, A Orsi, G Vonella and V Sorrentino

      Version of Record online: 28 AUG 2008 | DOI: 10.1111/j.1399-0004.2008.01074.x

  6. Letters to the Editor

    1. Top of page
    2. Review
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Original Articles
    6. Short Reports
    7. Letters to the Editor
    8. Response to Letter
    1. Autistic features with speech delay in a girl with an ∼1.5-Mb deletion in 6q16.1, including GPR63 and FUT9 (pages 199–202)

      K Derwińska, J Bernaciak, B Wiśniowiecka-Kowalnik, E Obersztyn, E Bocian and P Stankiewicz

      Version of Record online: 20 AUG 2008 | DOI: 10.1111/j.1399-0004.2008.01077.x

    2. Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease (pages 203–206)

      L Michel-Calemard, F Dijoud, M Till, JC Lambert, M Vercherat, V Tardy, C Coubes and Y Morel

      Version of Record online: 19 NOV 2008 | DOI: 10.1111/j.1399-0004.2008.01106.x

    3. Huntington’s disease-like 2 and apparent ancestry (page 207)

      GGR Rodrigues, HAG Teive and V Tumas

      Version of Record online: 15 JUL 2008 | DOI: 10.1111/j.1399-0004.2008.01055.x

  7. Response to Letter

    1. Top of page
    2. Review
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Original Articles
    6. Short Reports
    7. Letters to the Editor
    8. Response to Letter
    1. Response to Tumas et al. (page 208)

      J Sequeiros, C Santos and Laura B Jardim

      Version of Record online: 23 JAN 2009 | DOI: 10.1111/j.1399-0004.2008.01066.x

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