Clinical Genetics

Cover image for Vol. 76 Issue 4

October 2009

Volume 76, Issue 4

Pages 303–419

  1. Reviews

    1. Top of page
    2. Reviews
    3. Social and Behavioural Research in Clinical Genetics
    4. Development Biology: Frontiers for Clinical Genetics
    5. HotSpots
    6. Original Article
    7. Short Reports
    8. Letters to the Editor
    1. Cornelia de Lange syndrome, cohesin, and beyond (pages 303–314)

      J Liu and ID Krantz

      Article first published online: 24 SEP 2009 | DOI: 10.1111/j.1399-0004.2009.01271.x

    2. Preimplantation genetic diagnosis (pages 315–325)

      JPM Geraedts and GMWR De Wert

      Article first published online: 24 SEP 2009 | DOI: 10.1111/j.1399-0004.2009.01273.x

  2. Social and Behavioural Research in Clinical Genetics

    1. Top of page
    2. Reviews
    3. Social and Behavioural Research in Clinical Genetics
    4. Development Biology: Frontiers for Clinical Genetics
    5. HotSpots
    6. Original Article
    7. Short Reports
    8. Letters to the Editor
    1. Identifying mental health services in clinical genetic settings (pages 326–331)

      M Cappelli, MJ Esplen, BJ Wilson, M Dorval, JL Bottorff, M Ly, JC Carroll, J Allanson, E Humphreys and D Rayson

      Article first published online: 24 SEP 2009 | DOI: 10.1111/j.1399-0004.2009.01250.x

      Section Editor: Barbara Bowles Biesecker, email: barbarab@mail.nih.gov

  3. Development Biology: Frontiers for Clinical Genetics

    1. Top of page
    2. Reviews
    3. Social and Behavioural Research in Clinical Genetics
    4. Development Biology: Frontiers for Clinical Genetics
    5. HotSpots
    6. Original Article
    7. Short Reports
    8. Letters to the Editor
  4. HotSpots

    1. Top of page
    2. Reviews
    3. Social and Behavioural Research in Clinical Genetics
    4. Development Biology: Frontiers for Clinical Genetics
    5. HotSpots
    6. Original Article
    7. Short Reports
    8. Letters to the Editor
  5. Original Article

    1. Top of page
    2. Reviews
    3. Social and Behavioural Research in Clinical Genetics
    4. Development Biology: Frontiers for Clinical Genetics
    5. HotSpots
    6. Original Article
    7. Short Reports
    8. Letters to the Editor
    1. Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders (pages 348–356)

      HM Ozgen, E Van Daalen, PF Bolton, VK Maloney, S Huang, L Cresswell, MJ Van Den Boogaard, MJ Eleveld, R Van‘t Slot, R Hochstenbach, FA Beemer, M Barrow, JCK Barber and M Poot

      Article first published online: 24 SEP 2009 | DOI: 10.1111/j.1399-0004.2009.01254.x

  6. Short Reports

    1. Top of page
    2. Reviews
    3. Social and Behavioural Research in Clinical Genetics
    4. Development Biology: Frontiers for Clinical Genetics
    5. HotSpots
    6. Original Article
    7. Short Reports
    8. Letters to the Editor
    1. Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature (pages 357–371)

      C Nemos, L Lambert, F Giuliano, B Doray, A Roubertie, A Goldenberg, B Delobel, V Layet, MA N’guyen, A Saunier, F Verneau, P Jonveaux and C Philippe

      Article first published online: 24 SEP 2009 | DOI: 10.1111/j.1399-0004.2009.01194.x

    2. An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients (pages 372–382)

      R Kohan, IA Cismondi, R Dodelson Kremer, VJ Muller, N Guelbert, V Tapia Anzolini, MJ Fietz, AM Oller Ramírez and I Noher Halac

      Article first published online: 24 SEP 2009 | DOI: 10.1111/j.1399-0004.2009.01214.x

    3. Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2 (pages 383–391)

      H Nakanishi, M Ohtsubo, S Iwasaki, Y Hotta, K Mizuta, H Mineta and S Minoshima

      Article first published online: 8 SEP 2009 | DOI: 10.1111/j.1399-0004.2009.01257.x

    4. Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis (pages 392–397)

      D Castiglia, M Castori, E Pisaneschi, M Sommi, C Covaciu, G Zambruno, J Fischer and C Magnani

      Article first published online: 3 AUG 2009 | DOI: 10.1111/j.1399-0004.2009.01198.x

    5. Parental SCN1A mutation mosaicism in familial Dravet syndrome (pages 398–403)

      KK Selmer, A-S Eriksson, K Brandal, T Egeland, C Tallaksen and DE Undlien

      Article first published online: 10 AUG 2009 | DOI: 10.1111/j.1399-0004.2009.01208.x

  7. Letters to the Editor

    1. Top of page
    2. Reviews
    3. Social and Behavioural Research in Clinical Genetics
    4. Development Biology: Frontiers for Clinical Genetics
    5. HotSpots
    6. Original Article
    7. Short Reports
    8. Letters to the Editor
    1. Molecular analysis and clinical aspects of four patients with Chédiak-Higashi syndrome (CHS) (pages 409–412)

      E Scherber, K Beutel, R Ganschow, A Schulz, G Janka and U zur Stadt

      Article first published online: 24 JUL 2009 | DOI: 10.1111/j.1399-0004.2009.01205.x

    2. Novel mutations of the CLCN5 gene including a complex allele and A 5′ UTR mutation in Dent disease 1 (pages 413–416)

      E Tosetto, M Ceol, F Mezzabotta, A Ammenti, L Peruzzi, MR Caruso, G Barbano, G Vezzoli, G Colussi, G Vergine, M Giordano, N Glorioso, S Degortes, L Soldati, J Sayer, A D'Angelo and F Anglani

      Article first published online: 10 AUG 2009 | DOI: 10.1111/j.1399-0004.2009.01212.x

    3. Pseudogene-derived IKBKG gene mutations in incontinentia pigmenti (pages 417–419)

      N-C Lee, C-H Huang, W-L Hwu, Y-H Chien, Y-Y Chang, C-H Chen and T-M Ko

      Article first published online: 28 JUL 2009 | DOI: 10.1111/j.1399-0004.2009.01232.x

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