Clinical Genetics

Cover image for Vol. 78 Issue 2

August 2010

Volume 78, Issue 2

Pages 103–200

  1. Review

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. HotSpots
    5. Original Article
    6. Short Reports
    7. Letters to the Editor
    1. Genetic factors in non-syndromic congenital heart malformations (pages 103–123)

      MW Wessels and PJ Willems

      Version of Record online: 17 MAY 2010 | DOI: 10.1111/j.1399-0004.2010.01435.x

  2. Social and Behavioural Research in Clinical Genetics

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. HotSpots
    5. Original Article
    6. Short Reports
    7. Letters to the Editor
    1. Evaluation of phone-based genetic counselling in African American women using culturally tailored visual aids (pages 124–131)

      T Pal, C Stowe, A Cole, J-H Lee, X Zhao and S Vadaparampil

      Version of Record online: 6 JUL 2010 | DOI: 10.1111/j.1399-0004.2010.01466.x

  3. HotSpots

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. HotSpots
    5. Original Article
    6. Short Reports
    7. Letters to the Editor
    1. Exome sequencing: expanding the genetic testing toolbox (pages 132–134)

      CE Kobelka

      Version of Record online: 6 JUL 2010 | DOI: 10.1111/j.1399-0004.2010.01452_1.x

    2. ‘Kir’-ing thyrotoxic periodic paralysis (pages 136–138)

      MH Kang

      Version of Record online: 6 JUL 2010 | DOI: 10.1111/j.1399-0004.2010.01452_3.x

  4. Original Article

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. HotSpots
    5. Original Article
    6. Short Reports
    7. Letters to the Editor
    1. Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China (pages 139–148)

      F Xiong, M Sun, X Zhang, R Cai, Y Zhou, J Lou, L Zeng, Q Sun, Q Xiao, X Shang, X Wei, T Zhang, P Chen and X Xu

      Version of Record online: 19 MAR 2010 | DOI: 10.1111/j.1399-0004.2010.01430.x

  5. Short Reports

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. HotSpots
    5. Original Article
    6. Short Reports
    7. Letters to the Editor
    1. Delineation of 15q13.3 microdeletions (pages 149–161)

      A Masurel-Paulet, J Andrieux, P Callier, JM Cuisset, C Le Caignec, M Holder, C Thauvin-Robinet, B Doray, E Flori, MP Alex-Cordier, M Beri, O Boute, B Delobel, A Dieux, L Vallee, S Jaillard, S Odent, B Isidor, C Beneteau, J Vigneron, F Bilan, B Gilbert-Dussardier, C Dubourg, A Labalme, C Bidon, A Gautier, P Pernes, JM Pinoit, F Huet, F Mugneret, B Aral, P Jonveaux, D Sanlaville and L Faivre

      Version of Record online: 9 FEB 2010 | DOI: 10.1111/j.1399-0004.2010.01374.x

    2. Clinical and molecular characterization of individuals with recurrent genomic disorder at 10q22.3q23.2 (pages 162–168)

      S Alliman, J Coppinger, J Marcadier, H Thiese, P Brock, S Shafer, C Weaver, A Asamoah, K Leppig, S Dyack, B Morash, R Schultz, BS Torchia, AN Lamb and BA Bejjani

      Version of Record online: 9 FEB 2010 | DOI: 10.1111/j.1399-0004.2010.01373.x

    3. Estimation of the age at onset in spinocerebellar ataxia type 2 Cuban patients by survival analysis (pages 169–174)

      LE Almaguer-Mederos, NS Falcón, YR Almira, YG Zaldivar, DC Almarales, EM Góngora, MP Herrera, KE Batallán, RR Armiñán, MV Manresa, GS Cruz, J Laffita-Mesa, TM Cyuz, V Chang, G Auburger, S Gispert and LV Pérez

      Version of Record online: 2 DEC 2009 | DOI: 10.1111/j.1399-0004.2009.01358.x

    4. De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features (pages 175–180)

      P Makrythanasis, I Moix, S Gimelli, J Fluss, K Aliferis, SE Antonarakis, MA Morris, F Béna and A Bottani

      Version of Record online: 5 JAN 2010 | DOI: 10.1111/j.1399-0004.2010.01371.x

    5. Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients (pages 181–185)

      B Lakhal, R Braham, R Berguigua, N Bouali, M Zaouali, M Chaieb, RA Veitia, A Saad and H Elghezal

      Version of Record online: 2 DEC 2009 | DOI: 10.1111/j.1399-0004.2009.01359.x

    6. Founder effect of a pathogenic MSH2 mutation identified in Spanish families with Lynch syndrome (pages 186–190)

      M Menéndez, S Castellví-Bel, M Pineda, R De Cid, J Muñoz, S González, À Teulé, F Balaguer, T Ramón y Cajal, Josep M. Reñé, I Blanco, A Castells and G Capellà

      Version of Record online: 20 JAN 2010 | DOI: 10.1111/j.1399-0004.2009.01346.x

    7. Cardiac conduction improvement in two heterozygotes for primary carnitine deficiency on l-carnitine supplementation (pages 191–194)

      K Sarafoglou, AHC Tridgell, K Bentler, K Redlinger-Grosse, SA Berry and LA Schimmenti

      Version of Record online: 4 JAN 2010 | DOI: 10.1111/j.1399-0004.2009.01368.x

  6. Letters to the Editor

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. HotSpots
    5. Original Article
    6. Short Reports
    7. Letters to the Editor
    1. Gaucher disease: frequency of the N370S mutation in the Greek population (pages 195–196)

      E Dimitriou, M Moraitou, C Troungos, K Schulpis and H Michelakakis

      Version of Record online: 6 JUL 2010 | DOI: 10.1111/j.1399-0004.2010.01381.x

    2. Osteoglophonic dysplasia: A ‘common’ mutation in a rare disease (pages 197–198)

      AJ Sow, R Ramli, ZA Latiff, S Ichikawa, AK Gray, R Nordin, MN Abd Jabar, SHA Primuharsa Putra, CH Siar and MJ Econs

      Version of Record online: 5 MAR 2010 | DOI: 10.1111/j.1399-0004.2010.01382.x

    3. Autosomal recessive LMNA mutation causing Restrictive Dermopathy (pages 199–200)

      GJ Youn, M Uzunyan, L Vachon, J Johnson, TL Winder and S Yano

      Version of Record online: 6 JUL 2010 | DOI: 10.1111/j.1399-0004.2010.01385.x

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