Clinical Genetics

Cover image for Vol. 77 Issue 1

January 2010

Volume 77, Issue 1

Pages 1–99

  1. Review

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. Developmental Biology: Frontiers for Clinical Genetics
    5. Images in Genetics
    6. HotSpots
    7. Original Articles
    8. Short Reports
    9. Letters to the Editor
  2. Social and Behavioural Research in Clinical Genetics

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. Developmental Biology: Frontiers for Clinical Genetics
    5. Images in Genetics
    6. HotSpots
    7. Original Articles
    8. Short Reports
    9. Letters to the Editor
    1. Reproductive decision-making in the context of mitochondrial DNA disorders: views and experiences of professionals (pages 10–17)

      AL Bredenoord, A Krumeich, MC De Vries, W Dondorp and G De Wert

      Article first published online: 21 DEC 2009 | DOI: 10.1111/j.1399-0004.2009.01312.x

  3. Developmental Biology: Frontiers for Clinical Genetics

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. Developmental Biology: Frontiers for Clinical Genetics
    5. Images in Genetics
    6. HotSpots
    7. Original Articles
    8. Short Reports
    9. Letters to the Editor
    1. Ciliary dysfunction and obesity (pages 18–27)

      CA Mok, E Héon and M Zhen

      Article first published online: 23 NOV 2009 | DOI: 10.1111/j.1399-0004.2009.01305.x

  4. Images in Genetics

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. Developmental Biology: Frontiers for Clinical Genetics
    5. Images in Genetics
    6. HotSpots
    7. Original Articles
    8. Short Reports
    9. Letters to the Editor
    1. Eyebrow anomalies as a diagnostic sign of genomic disorders (pages 28–31)

      M Silengo, E Belligni, C Molinatto, G Baldassare, E Biamino, N Chiesa, O Zuffardi, S Girirajan, EE Eichler and GB Ferrero

      Article first published online: 21 DEC 2009 | DOI: 10.1111/j.1399-0004.2009.01347.x

      Corrected by:

      Erratum

      Vol. 77, Issue 4, 408, Article first published online: 16 MAR 2010

  5. HotSpots

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. Developmental Biology: Frontiers for Clinical Genetics
    5. Images in Genetics
    6. HotSpots
    7. Original Articles
    8. Short Reports
    9. Letters to the Editor
  6. Original Articles

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. Developmental Biology: Frontiers for Clinical Genetics
    5. Images in Genetics
    6. HotSpots
    7. Original Articles
    8. Short Reports
    9. Letters to the Editor
    1. Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia (pages 37–48)

      C Barahona-Dussault, B Benito, O Campuzano, A Iglesias, TL Leung, L Robb, M Talajic and R Brugada

      Article first published online: 23 OCT 2009 | DOI: 10.1111/j.1399-0004.2009.01282.x

    2. Surveillance in von Hippel-Lindau disease (vHL) (pages 49–59)

      MLM Poulsen, E Budtz-Jørgensen and ML Bisgaard

      Article first published online: 23 OCT 2009 | DOI: 10.1111/j.1399-0004.2009.01281.x

  7. Short Reports

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. Developmental Biology: Frontiers for Clinical Genetics
    5. Images in Genetics
    6. HotSpots
    7. Original Articles
    8. Short Reports
    9. Letters to the Editor
    1. BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin (pages 60–69)

      M Infante, M Durán, A Acedo, L Pérez-Cabornero, DJ Sanz, M García-González, E Beristain, E Esteban-Cardeñosa, M De La Hoya, A Teulé, A Vega, M-I Tejada, E Lastra, C Miner and EA Velasco

      Article first published online: 11 NOV 2009 | DOI: 10.1111/j.1399-0004.2009.01272.x

    2. Functional analysis of CYP1B1 mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma (pages 70–78)

      M-P López-Garrido, C Blanco-Marchite, F Sánchez-Sánchez, E López-Sánchez, V Chaqués-Alepuz, E Campos-Mollo, AS Salinas-Sánchez and J Escribano

      Article first published online: 28 SEP 2009 | DOI: 10.1111/j.1399-0004.2009.01284.x

    3. Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis (pages 79–85)

      K Reinhardt, M Grapp, K Schlachter, W Brück, J Gärtner and R Steinfeld

      Article first published online: 6 OCT 2009 | DOI: 10.1111/j.1399-0004.2009.01285.x

    4. SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis (pages 86–91)

      TJM Hulsebos, SB Kenter, ME Jakobs, F Baas, B Chong and MB Delatycki

      Article first published online: 11 NOV 2009 | DOI: 10.1111/j.1399-0004.2009.01249.x

  8. Letters to the Editor

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. Developmental Biology: Frontiers for Clinical Genetics
    5. Images in Genetics
    6. HotSpots
    7. Original Articles
    8. Short Reports
    9. Letters to the Editor
    1. CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome (pages 92–96)

      C Córdova-Fletes, N Rademacher, I Müller, JN Mundo-Ayala, EA Morales-Jeanhs, JE García-Ortiz, A León-Gil, H Rivera, MG Domínguez and VM Kalscheuer

      Article first published online: 6 OCT 2009 | DOI: 10.1111/j.1399-0004.2009.01286.x

    2. Mutation screening in patients for familial hypercholesterolaemia (ADH) (pages 97–99)

      A Taylor, K Patel, J Tsedeke, SE Humphries and G Norbury

      Article first published online: 15 OCT 2009 | DOI: 10.1111/j.1399-0004.2009.01279.x

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