Clinical Genetics

Cover image for Vol. 83 Issue 3

March 2013

Volume 83, Issue 3

Pages 201–296

  1. REVIEWS

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. SPECIAL FEATURES
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. CORRESPONDENCE
    1. Unmasking Kabuki syndrome (pages 201–211)

      N Bögershausen and B Wollnik

      Article first published online: 26 NOV 2012 | DOI: 10.1111/cge.12051

  2. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. SPECIAL FEATURES
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. CORRESPONDENCE
    1. Changes in screening behaviors and attitudes toward screening from pre-test genetic counseling to post-disclosure in Lynch syndrome families (pages 215–220)

      AM Burton-Chase, SR Hovick, SK Peterson, SK Marani, SW Vernon, CI Amos, ML Frazier, PM Lynch and ER Gritz

      Article first published online: 18 FEB 2013 | DOI: 10.1111/cge.12091

      Section Editor:

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

  3. SPECIAL FEATURES

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. SPECIAL FEATURES
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. CORRESPONDENCE
    1. Recommendations for the predictive genetic test in Huntington's disease (pages 221–231)

      R MacLeod, A Tibben, M Frontali, G Evers-Kiebooms, A Jones, A Martinez-Descales, RA Roos and Editorial Committee and Working Group ‘Genetic Testing Counselling’ of the European Huntington Disease Network

      Article first published online: 29 JUL 2012 | DOI: 10.1111/j.1399-0004.2012.01900.x

  4. ORIGINAL ARTICLES

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. SPECIAL FEATURES
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. CORRESPONDENCE
    1. Estimating survival rates after ovarian cancer among women tested for BRCA1 and BRCA2 mutations (pages 232–237)

      SA Narod, JRK Moody, B Rosen, I Fan, A Risch, P Sun and JR McLaughlin

      Article first published online: 3 JUL 2012 | DOI: 10.1111/j.1399-0004.2012.01906.x

    2. Recurrent and founder mutations in the PMS2 gene (pages 238–243)

      J Tomsic, L Senter, S Liyanarachchi, M Clendenning, C P Vaughn, M A Jenkins, J L Hopper, J Young, W Samowitz and A de la Chapelle

      Article first published online: 4 JUN 2012 | DOI: 10.1111/j.1399-0004.2012.01898.x

  5. SHORT REPORTS

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. SPECIAL FEATURES
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. CORRESPONDENCE
    1. Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia (pages 244–250)

      N Chassaing, N Ragge, A Kariminejad, A Buffet, S Ghaderi-Sohi, J Martinovic and P Calvas

      Article first published online: 4 JUL 2012 | DOI: 10.1111/j.1399-0004.2012.01904.x

    2. Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus (pages 251–256)

      SK Holman, T Morgan, G Baujat, V Cormier-Daire, T-J Cho, M Lees, J Samanich, D Tapon, HD Hove, A Hing, R Hennekam and SP Robertson

      Article first published online: 5 JUL 2012 | DOI: 10.1111/j.1399-0004.2012.01905.x

    3. SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V (pages 257–262)

      E Sánchez-Ferrero, E Coto, C Beetz, J Gámez, AI Corao, M Díaz, J Esteban, E del Castillo, G Moris, J Infante, M Menéndez, SI Pascual-Pascual, A López de Munaín, MJ Garcia-Barcina and V Alvarez

      Article first published online: 21 MAY 2012 | DOI: 10.1111/j.1399-0004.2012.01896.x

    4. The fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia (pages 263–268)

      T I Winarni, F E P Mundhofir, A Ediati, M Belladona, W M Nillesen, H G Yntema, B C J Hamel, S M H Faradz and R J Hagerman

      Article first published online: 6 JUN 2012 | DOI: 10.1111/j.1399-0004.2012.01899.x

    5. Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss (pages 274–278)

      N Mohebbi, R Vargas-Poussou, SCA Hegemann, B Schuknecht, AD Kistler, RP Wüthrich and CA Wagner

      Article first published online: 10 MAY 2012 | DOI: 10.1111/j.1399-0004.2012.01891.x

    6. Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease (pages 279–283)

      SG Lindquist, M Duno, M Batbayli, A Puschmann, H Braendgaard, S Mardosiene, K Svenstrup, LH Pinborg, K Vestergaard, LE Hjermind, J Stokholm, BB Andersen, P Johannsen and JE Nielsen

      Article first published online: 4 JUL 2012 | DOI: 10.1111/j.1399-0004.2012.01903.x

    7. Modification of risk for cancer as a coincidental finding in DNA array investigation (pages 284–287)

      K Rostasy, C Fauth, K Gautsch, I Laimer, B Krabichler, K Wimmer, A Frühmesser, D Kotzot and S Moshir

      Article first published online: 9 APR 2012 | DOI: 10.1111/j.1399-0004.2012.01881.x

  6. LETTERS TO THE EDITOR

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. SPECIAL FEATURES
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. CORRESPONDENCE
    1. You have full text access to this OnlineOpen article
      Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit (pages 288–290)

      F Ariani, F Mari, S Amitrano, C Di Marco, R Artuso, E Scala, I Meloni, R Della Volpe, A Rossi, H van Bokhoven and A Renieri

      Article first published online: 23 JUL 2012 | DOI: 10.1111/j.1399-0004.2012.01901.x

    2. New CBP mutations in Brazilian patients with Rubinstein–Taybi syndrome (pages 291–292)

      KT Suzuki, LC Torres, SMM Sugayama, B da Costa Aguiar Alves, CA Moreira-Filho and M Carneiro-Sampaio

      Article first published online: 17 MAY 2012 | DOI: 10.1111/j.1399-0004.2012.01894.x

    3. Estimation of survival in Spinocerebellar Ataxia type 2 Cuban patients (pages 293–294)

      LE Almaguer-Mederos, R Aguilera Rodríguez, Y González Zaldivar, D Almaguer Gotay, D Cuello Almarales, J Laffita Mesa, Y Vázquez Mojena, P Zayas Feria, G Auburger, S Gispert and L Velásquez Pérez

      Article first published online: 3 JUL 2012 | DOI: 10.1111/j.1399-0004.2012.01902.x

  7. CORRESPONDENCE

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. SPECIAL FEATURES
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. CORRESPONDENCE
    1. Response to Diaz (page 296)

      N Bögershausen, E Bruford and B Wollnik

      Article first published online: 18 FEB 2013 | DOI: 10.1111/cge.12099

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