Clinical Genetics

Cover image for Clinical Genetics

May 2007

Volume 71, Issue 5

Pages 379–482

  1. Reviews

    1. Top of page
    2. Reviews
    3. Original Articles
    4. Short Reports
    5. Letters to the Editor
    1. Mitochondrial deafness (pages 379–391)

      H Kokotas, MB Petersen and PJ Willems

      Article first published online: 2 MAY 2007 | DOI: 10.1111/j.1399-0004.2007.00800.x

    2. An overview of isolated and syndromic oesophageal atresia (pages 392–399)

      D Geneviève, L De Pontual, J Amiel, S Sarnacki and S Lyonnet

      Article first published online: 2 MAY 2007 | DOI: 10.1111/j.1399-0004.2007.00798.x

  2. Original Articles

    1. Top of page
    2. Reviews
    3. Original Articles
    4. Short Reports
    5. Letters to the Editor
    1. Genetic counselling and consent for tumour testing in HNPCC (pages 400–405)

      CL Gaff, MT Rogers and IM Frayling

      Article first published online: 25 APR 2007 | DOI: 10.1111/j.1399-0004.2007.00779.x

    2. Single-nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosis (pages 406–414)

      W Chen, NC Meyer, MJ McKenna, M Pfister, DJ McBride Jr, K Fukushima, M Thys, GV Camp and RJH Smith

      Article first published online: 2 MAY 2007 | DOI: 10.1111/j.1399-0004.2007.00794.x

    3. Current status of thalassemia in minority populations in Guangxi, China (pages 419–426)

      HF Pan, GF Long, Q Li, YN Feng, ZY Lei, HW Wei, YY Huang, JH Huang, N Lin, QQ Xu, SY Ling, XJ Chen and T Huang

      Article first published online: 25 APR 2007 | DOI: 10.1111/j.1399-0004.2007.00791.x

  3. Short Reports

    1. Top of page
    2. Reviews
    3. Original Articles
    4. Short Reports
    5. Letters to the Editor
    1. Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis (pages 427–433)

      M Nielsen, FJ Hes, FM Nagengast, MM Weiss, EM Mathus-Vliegen, H Morreau, MH Breuning, JT Wijnen, CMJ Tops and HFA Vasen

      Article first published online: 2 MAY 2007 | DOI: 10.1111/j.1399-0004.2007.00766.x

    2. Newborn screening for mucopolysaccharidoses: opinions of patients and their families (pages 446–450)

      IM Hayes, V Collins, M Sahhar, JE Wraith and MB Delatycki

      Article first published online: 28 MAR 2007 | DOI: 10.1111/j.1399-0004.2007.00783.x

    3. Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis (pages 451–457)

      M Tzetis, M Kaliakatsos, M Fotoulaki, A Papatheodorou, S Doudounakis, A Tsezou, P Makrythanasis, E Kanavakis and S Nousia-Arvanitakis

      Article first published online: 2 MAY 2007 | DOI: 10.1111/j.1399-0004.2007.00788.x

    4. MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever (pages 458–467)

      S Giaglis, V Papadopoulos, K Kambas, M Doumas, V Tsironidou, S Rafail, G Kartalis, M Speletas and K Ritis

      Article first published online: 28 MAR 2007 | DOI: 10.1111/j.1399-0004.2007.00789.x

  4. Letters to the Editor

    1. Top of page
    2. Reviews
    3. Original Articles
    4. Short Reports
    5. Letters to the Editor
    1. RMRP mutations in hematological disorders (pages 468–470)

      SA Graf, RT Calado, S Kajigaya and NS Young

      Article first published online: 5 APR 2007 | DOI: 10.1111/j.1399-0004.2007.00776.x

    2. The Ala53Thr mutation in the α-synuclein gene in a Korean family with Parkinson disease (pages 471–473)

      C-S Ki, EF Stavrou, N Davanos, WY Lee, EJ Chung, J-Y Kim and A Athanassiadou

      Article first published online: 25 APR 2007 | DOI: 10.1111/j.1399-0004.2007.00781.x

    3. Clinical findings and molecular characterization of six subtelomeric imbalances (pages 474–479)

      C Orellana, S Monfort, M Roselló, S Oltra and F Martínez

      Article first published online: 2 MAY 2007 | DOI: 10.1111/j.1399-0004.2007.00792.x

    4. A new familial mutation (R133G) in the SRY gene (pages 480–482)

      D Plaseska-Karanfilska, P Noveski, K Kuzevska, N Basheska, M Kocova and GD Efremov

      Article first published online: 25 APR 2007 | DOI: 10.1111/j.1399-0004.2007.00796.x

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