Clinical Genetics

Cover image for Clinical Genetics

June 2011

Volume 79, Issue 6

Pages 501–603

  1. REVIEW

    1. Top of page
    2. REVIEW
    3. HOTSPOTS
    4. ORIGINAL ARTICLE
    5. SHORT REPORTS
    6. LETTERS TO THE EDITOR
    7. ADDENDUM
    1. Clinical variability of genetic isolates of Cohen syndrome (pages 501–506)

      S Douzgou and MB Petersen

      Version of Record online: 7 APR 2011 | DOI: 10.1111/j.1399-0004.2011.01669.x

  2. HOTSPOTS

    1. Top of page
    2. REVIEW
    3. HOTSPOTS
    4. ORIGINAL ARTICLE
    5. SHORT REPORTS
    6. LETTERS TO THE EDITOR
    7. ADDENDUM
  3. ORIGINAL ARTICLE

    1. Top of page
    2. REVIEW
    3. HOTSPOTS
    4. ORIGINAL ARTICLE
    5. SHORT REPORTS
    6. LETTERS TO THE EDITOR
    7. ADDENDUM
    1. Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome (pages 512–522)

      L Raskin, F Schwenter, M Freytsis, M Tischkowitz, N Wong, G Chong, SA Narod, DA Levine, F Bogomolniy, M Aronson, SN Thibodeau, KS Hunt, G Rennert, S Gallinger, SB Gruber and WD Foulkes

      Version of Record online: 14 DEC 2010 | DOI: 10.1111/j.1399-0004.2010.01594.x

  4. SHORT REPORTS

    1. Top of page
    2. REVIEW
    3. HOTSPOTS
    4. ORIGINAL ARTICLE
    5. SHORT REPORTS
    6. LETTERS TO THE EDITOR
    7. ADDENDUM
    1. Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia (pages 523–530)

      DS McCorquodale III, U Ozomaro, J Huang, G Montenegro, A Kushman, L Citrigno, J Price, F Speziani, MA Pericak-Vance and S Züchner

      Version of Record online: 2 JUL 2010 | DOI: 10.1111/j.1399-0004.2010.01501.x

    2. Microduplication of Xp11.23p11.3 with effects on cognition, behavior, and craniofacial development (pages 531–538)

      AW El-Hattab, J Bournat, PA Eng, JBS Wu, BA Walker, P Stankiewicz, SW Cheung and CW Brown

      Version of Record online: 29 JUN 2010 | DOI: 10.1111/j.1399-0004.2010.01496.x

    3. You have full text access to this OnlineOpen article
      Clinical and functional properties of novel VHL mutation (X214L) consistent with Type 2A phenotype and low risk of renal cell carcinoma (pages 539–545)

      AD Sorrell, S Lee, C Stolle, J Ellenhorn, A Grix, WG Kaelin Jr and JN Weitzel

      Version of Record online: 13 MAY 2010 | DOI: 10.1111/j.1399-0004.2010.01464.x

    4. DNA methylation studies on imprinted loci in a male monozygotic twin pair discordant for Beckwith–Wiedemann syndrome (pages 546–553)

      S Tierling, NY Souren, S Reither, KD Zang, J Meng-Hentschel, D Leitner, B Oehl-Jaschkowitz and J Walter

      Version of Record online: 7 JUN 2010 | DOI: 10.1111/j.1399-0004.2010.01482.x

    5. Can a familial gastrointestinal tumour syndrome be allelic with Waardenburg syndrome? (pages 554–560)

      RE Vilain, T Dudding, SG Braye, C Groombridge, C Meldrum, AD Spigelman, S Ackland, L Ashman and RJ Scott

      Version of Record online: 23 JUN 2010 | DOI: 10.1111/j.1399-0004.2010.01489.x

    6. Novel mutations in the HPS1 gene among Puerto Rican patients (pages 561–567)

      C Carmona-Rivera, RA Hess, K O'Brien, G Golas, E Tsilou, JG White, WA Gahl and M Huizing

      Version of Record online: 28 JUN 2010 | DOI: 10.1111/j.1399-0004.2010.01491.x

    7. Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2 (pages 568–574)

      S Sheikhzadeh, M Rybczynski, CR Habermann, AMJ Bernhardt, M Arslan-Kirchner, B Keyser, H Kaemmerer, TS Mir, A Staebler, N Oezdal, PN Robinson, J Berger, T Meinertz and Y von Kodolitsch

      Version of Record online: 28 JUN 2010 | DOI: 10.1111/j.1399-0004.2010.01494.x

    8. Novel mutations in scavenger receptor BI associated with high HDL cholesterol in humans (pages 575–581)

      LR Brunham, I Tietjen, AE Bochem, RR Singaraja, PL Franchini, C Radomski, M Mattice, A Legendre, GK Hovingh, JJP Kastelein and MR Hayden

      Version of Record online: 5 MAY 2011 | DOI: 10.1111/j.1399-0004.2011.01682.x

    9. You have full text access to this OnlineOpen article
      Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia (pages 582–587)

      SE Flanagan, RR Kapoor, I Banerjee, C Hall, VV Smith, K Hussain and S Ellard

      Version of Record online: 22 MAY 2010 | DOI: 10.1111/j.1399-0004.2010.01476.x

    10. Association of polymorphisms in 9p21 region with CAD in North Indian population: replication of SNPs identified through GWAS (pages 588–593)

      J Kumar, S Yumnam, T Basu, A Ghosh, G Garg, G Karthikeyan and S Sengupta

      Version of Record online: 21 JUL 2010 | DOI: 10.1111/j.1399-0004.2010.01509.x

  5. LETTERS TO THE EDITOR

    1. Top of page
    2. REVIEW
    3. HOTSPOTS
    4. ORIGINAL ARTICLE
    5. SHORT REPORTS
    6. LETTERS TO THE EDITOR
    7. ADDENDUM
    1. DFNB93, a novel locus for autosomal recessive moderate-to-severe hearing impairment (pages 594–598)

      MA Tabatabaiefar, F Alasti, L Shariati, E Farrokhi, E Fransen, MR Nooridaloii, MH Chaleshtori and G Van Camp

      Version of Record online: 5 MAY 2011 | DOI: 10.1111/j.1399-0004.2010.01593.x

    2. The reliability of death certification in patients dying with mucopolysaccharidosis type II (Hunter syndrome) (pages 599–600)

      D Seshadri, S Jones, K Burt, L Lavery and JE Wraith

      Version of Record online: 5 MAY 2011 | DOI: 10.1111/j.1399-0004.2010.01597.x

  6. ADDENDUM

    1. Top of page
    2. REVIEW
    3. HOTSPOTS
    4. ORIGINAL ARTICLE
    5. SHORT REPORTS
    6. LETTERS TO THE EDITOR
    7. ADDENDUM

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