Clinical Genetics

Cover image for Vol. 86 Issue 2

August 2014

Volume 86, Issue 2

Pages 103–198

  1. REVIEW

    1. Top of page
    2. REVIEW
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    1. You have full text access to this OnlineOpen article
      Strabismus genetics across a spectrum of eye misalignment disorders (pages 103–111)

      X.C. Ye, V. Pegado, M.S. Patel and W.W. Wasserman

      Version of Record online: 26 MAR 2014 | DOI: 10.1111/cge.12367

  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 ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    1. Attitudinal concordance toward uptake and disclosure of genetic testing for cancer susceptibility in patient–family member dyads (pages 112–120)

      D.W. Shin, J. Cho, D.L. Roter, S.Y. Kim, Ji.H. Park, B. Cho, H.-S. Eom, J.-S. Chung, H.-K. Yang and Jo.-H. Park

      Version of Record online: 28 FEB 2014 | DOI: 10.1111/cge.12343

      Section Editor:

      Aad Tibben, email: a.tibben@lumc.nl

  3. HOTSPOTS

    1. Top of page
    2. REVIEW
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
  4. ORIGINAL ARTICLES

    1. Top of page
    2. REVIEW
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    1. National mutation study among Danish patients with hereditary haemorrhagic telangiectasia (pages 123–133)

      P.M. Tørring, K. Brusgaard, L.B. Ousager, P.E. Andersen and A.D. Kjeldsen

      Version of Record online: 3 OCT 2013 | DOI: 10.1111/cge.12269

    2. Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar (pages 134–141)

      S. Fahiminiya, M. Almuriekhi, Z. Nawaz, A. Staffa, P. Lepage, R. Ali, L. Hashim, J. Schwartzentruber, K. Abu Khadija, S. Zaineddin, H. Gamal, J. Majewski and T. Ben-Omran

      Version of Record online: 13 OCT 2013 | DOI: 10.1111/cge.12280

  5. SHORT REPORTS

    1. Top of page
    2. REVIEW
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    1. Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes (pages 142–148)

      E. Weh, L.M. Reis, R.C. Tyler, D. Bick, W.J. Rhead, S. Wallace, T.L. McGregor, S.K. Dills, M.-C. Chao, J.C. Murray and E.V. Semina

      Version of Record online: 17 SEP 2013 | DOI: 10.1111/cge.12241

    2. Tuberous sclerosis complex without tubers and subependymal nodules: a phenotype–genotype study (pages 149–154)

      S. Boronat, E.A. Shaaya, C.M. Doherty, P. Caruso and E.A. Thiele

      Version of Record online: 27 AUG 2013 | DOI: 10.1111/cge.12245

    3. A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population (pages 155–160)

      B.D. Webb, T. Brandt, L. Liu, C. Jalas, J. Liao, A. Fedick, M.D. Linderman, G.A. Diaz, R. Kornreich, H. Trachtman, L. Mehta and L. Edelmann

      Version of Record online: 2 SEP 2013 | DOI: 10.1111/cge.12247

    4. Molecular analysis for patients with IL-12 receptor β1 deficiency (pages 161–166)

      N. Ramirez-Alejo, L. Blancas-Galicia, M. Yamazaki-Nakashimada, S.E. García-Rodríguez, F. Rivas-Larrauri, D.P. Paolo-Cienfuegos, A. Alcantara-Salinas, F. Espinosa-Rosales and L. Santos-Argumedo

      Version of Record online: 11 SEP 2013 | DOI: 10.1111/cge.12253

    5. Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I (pages 167–171)

      R. Pérez-Carro, R. Sánchez-Alcudia, B. Pérez, R. Navarrete, C. Pérez-Cerdá, M. Ugarte and L.R. Desviat

      Version of Record online: 21 AUG 2013 | DOI: 10.1111/cge.12243

    6. Whole-exome sequencing expands the phenotype of Hunter syndrome (pages 172–176)

      S.M. Nikkel, L. Huang, R. Lachman, C.L. Beaulieu, J. Schwartzentruber, FORGE Canada Consortium, J. Majewski, M.T. Geraghty and K.M. Boycott

      Version of Record online: 28 JUL 2013 | DOI: 10.1111/cge.12236

    7. The utilization of pre-implantation genetic testing in the absence of governance: a real-time experience (pages 177–180)

      C. Farra, A. Nassar, T. Arawi, H. Ashkar, C. Monsef and J. Awwad

      Version of Record online: 2 SEP 2013 | DOI: 10.1111/cge.12250

    8. Prevalence of restless legs syndrome and sleep quality in carriers of the fragile X premutation (pages 181–184)

      S.M. Summers, J. Cogswell, J.E. Goodrich, Y. Mu, D.V. Nguyen, S.D. Brass and R.J. Hagerman

      Version of Record online: 2 SEP 2013 | DOI: 10.1111/cge.12249

    9. Gynecologic cancer screening and communication with health care providers in women with Lynch syndrome (pages 185–189)

      A.M. Burton-Chase, S.R. Hovick, C.C. Sun, S. Boyd-Rogers, P.M. Lynch, K.H. Lu and S.K. Peterson

      Version of Record online: 27 AUG 2013 | DOI: 10.1111/cge.12246

  6. LETTERS TO THE EDITOR

    1. Top of page
    2. REVIEW
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    1. Lynch syndrome mutations shared by the Baltic States and Poland (pages 190–193)

      D. Dymerska, G. Kurzawski, J. Suchy, H. Roomere, K. Toome, A. Metspalu, R. Janavičius, P. Elsakov, A. Irmejs, D. Berzina, E. Miklaševičs, J. Gardovskis, E. Rebane, M. Kelve, J. Kładny, T. Huzarski, J. Gronwald, T. Dębniak, T. Byrski, A. Stembalska, D. Surdyka, M. Siołek, M. Szwiec, Z. Banaszkiewicz, R. Wiśniowski, E. Kilar, R.J. Scott and J. Lubiński

      Version of Record online: 5 SEP 2013 | DOI: 10.1111/cge.12251

    2. SPG4-related hereditary spastic paraplegia: frequency and mutation spectrum in Brazil (pages 194–196)

      M.C. França Jr, D.B. Dogini, A. D'Abreu, H.A.G. Teive, R.P. Munhoz, S. Raskin, A. Moro, C.C. Melo, A.P. Gomes, J.A.M. Saute, L.B. Jardim and I. Lopes-Cendes

      Version of Record online: 5 SEP 2013 | DOI: 10.1111/cge.12252

    3. Novel homozygous mutation in exon 5 of WFS1 gene in an Apulian family with mild phenotypic expression of Wolfram syndrome (pages 197–198)

      E. Piccinno, F. Ortolani, M. Vendemiale, A. Tummolo, M. Masciopinto, M.P. Natale, A. De Luca, E. Agolini, C. Aloi, A. Salina, G. D'Annunzio, R. Fischetto and F. Papadia

      Version of Record online: 3 OCT 2013 | DOI: 10.1111/cge.12260

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