Clinical Genetics

Cover image for Vol. 78 Issue 5

November 2010

Volume 78, Issue 5

Pages 409–505

  1. Obituary

    1. Top of page
    2. Obituary
    3. Social and Behavioural Research in Clinical Genetics
    4. HotSpots
    5. Original Article
    6. Short Reports
    7. Letters to the Editor
    8. Erratum
    1. Leena Peltonen-Palotie (1952–2010) A renaissance woman of science (pages 409–410)

      Päivi Pajukanta

      Version of Record online: 8 OCT 2010 | DOI: 10.1111/j.1399-0004.2010.01542.x

  2. Social and Behavioural Research in Clinical Genetics

    1. Top of page
    2. Obituary
    3. Social and Behavioural Research in Clinical Genetics
    4. HotSpots
    5. Original Article
    6. Short Reports
    7. Letters to the Editor
    8. Erratum
    1. Patient satisfaction and cancer-related distress among unselected Jewish women undergoing genetic testing for BRCA1 and BRCA2 (pages 411–417)

      KA Metcalfe, A Poll, M Llacuachaqui, S Nanda, A Tulman, N Mian, P Sun and SA Narod

      Version of Record online: 1 JUL 2010 | DOI: 10.1111/j.1399-0004.2010.01499.x

  3. HotSpots

    1. Top of page
    2. Obituary
    3. Social and Behavioural Research in Clinical Genetics
    4. HotSpots
    5. Original Article
    6. Short Reports
    7. Letters to the Editor
    8. Erratum
  4. Original Article

    1. Top of page
    2. Obituary
    3. Social and Behavioural Research in Clinical Genetics
    4. HotSpots
    5. Original Article
    6. Short Reports
    7. Letters to the Editor
    8. Erratum
    1. A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders (pages 424–431)

      AM Innes, KM Boycott, EG Puffenberger, D Redl, IM MacDonald, AE Chudley, C Beaulieu, R Perrier, T Gillan, A Wade and JS Parboosingh

      Version of Record online: 7 JUN 2010 | DOI: 10.1111/j.1399-0004.2010.01481.x

  5. Short Reports

    1. Top of page
    2. Obituary
    3. Social and Behavioural Research in Clinical Genetics
    4. HotSpots
    5. Original Article
    6. Short Reports
    7. Letters to the Editor
    8. Erratum
    1. Novel splice-site mutations and a large intragenic deletion in PLA2G6 associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy (pages 432–440)

      A Tonelli, R Romaniello, R Grasso, A Cavallini, A Righini, N Bresolin, R Borgatti and MT Bassi

      Version of Record online: 27 FEB 2010 | DOI: 10.1111/j.1399-0004.2010.01417.x

    2. Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency (pages 441–448)

      R Urreizti, AA Moya-García, A Pino-Ángeles, M Cozar, A Langkilde, U Fanhoe, C Esteves, J Arribas, MA Vilaseca, B Pérez-Dueñas, M Pineda, V González, R Artuch, A Baldellou, L Vilarinho, B Fowler, A Ribes, F Sánchez-Jiménez, D Grinberg and S Balcells

      Version of Record online: 11 FEB 2010 | DOI: 10.1111/j.1399-0004.2010.01391.x

    3. Identification and molecular characterization of two novel chromosomal deletions associated with autism (pages 449–456)

      W-H Chien, SS-F Gau, Y-Y Wu, Y-S Huang, J-S Fang, Y-J Chen, W-T Soong, Y-N Chiu and C-H Chen

      Version of Record online: 11 FEB 2010 | DOI: 10.1111/j.1399-0004.2010.01395.x

    4. The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes (pages 457–463)

      CA Stratakis, MA Tichomirowa, S Boikos, MF Azevedo, M Lodish, M Martari, S Verma, AF Daly, M Raygada, MF Keil, J Papademetriou, L Drori-Herishanu, A Horvath, KM Tsang, M Nesterova, S Franklin, J-F Vanbellinghen, V Bours, R Salvatori and A Beckers

      Version of Record online: 23 FEB 2010 | DOI: 10.1111/j.1399-0004.2010.01406.x

    5. A large cohort study of GJB2 mutations in Japanese hearing loss patients (pages 464–470)

      K Tsukada, S Nishio, S Usami and the Deafness Gene Study Consortium

      Version of Record online: 23 FEB 2010 | DOI: 10.1111/j.1399-0004.2010.01407.x

    6. Refining the phenotype associated with MEF2C haploinsufficiency (pages 471–477)

      F Novara, S Beri, R Giorda, E Ortibus, S Nageshappa, F Darra, B Dalla Bernardina, O Zuffardi and H Van Esch

      Version of Record online: 27 FEB 2010 | DOI: 10.1111/j.1399-0004.2010.01413.x

    7. Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan (pages 478–483)

      MA Rafiq, M Ansar, CR Marshall, A Noor, N Shaheen, A Mowjoodi, MA Khan, G Ali, M Amin-ud-Din, L Feuk, JB Vincent and SW Scherer

      Version of Record online: 23 FEB 2010 | DOI: 10.1111/j.1399-0004.2010.01405.x

    8. Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family (pages 484–489)

      W Wooderchak, F Gedge, M McDonald, P Krautscheid, X Wang, J Malkiewicz, CJ Bukjiok, T Lewis and P Bayrak-Toydemir

      Version of Record online: 27 FEB 2010 | DOI: 10.1111/j.1399-0004.2010.01418.x

    9. PALB2 mutations in European familial pancreatic cancer families (pages 490–494)

      EP Slater, P Langer, E Niemczyk, K Strauch, J Butler, N Habbe, JP Neoptolemos, W Greenhalf and DK Bartsch

      Version of Record online: 18 MAR 2010 | DOI: 10.1111/j.1399-0004.2010.01425.x

  6. Letters to the Editor

    1. Top of page
    2. Obituary
    3. Social and Behavioural Research in Clinical Genetics
    4. HotSpots
    5. Original Article
    6. Short Reports
    7. Letters to the Editor
    8. Erratum
    1. Thromboembolism and coumarin overdosage in a 19-year-old female: impact of pharmacogenetics (pages 499–501)

      C Brenner, B Huber, A Becker, H Ostermann, C Becker, G Steinbeck and W-M Franz

      Version of Record online: 8 OCT 2010 | DOI: 10.1111/j.1399-0004.2010.01477.x

    2. Variable number of tandem repeat polymorphisms (VNTRs) in the ACAN gene associated with pectus excavatum (pages 502–504)

      MW Stacey, SA Neumann, A Dooley, K Segna, RE Kelly, D Nuss, AM Kuhn, MJ Goretsky, AH Fecteau, A Pastor and VK Proud

      Version of Record online: 8 OCT 2010 | DOI: 10.1111/j.1399-0004.2010.01492.x

  7. Erratum

    1. Top of page
    2. Obituary
    3. Social and Behavioural Research in Clinical Genetics
    4. HotSpots
    5. Original Article
    6. Short Reports
    7. Letters to the Editor
    8. Erratum
    1. You have free access to this content
      Erratum (page 505)

      Version of Record online: 8 OCT 2010 | DOI: 10.1111/j.1399-0004.2010.01541.x

      This article corrects:

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