Clinical Genetics

Cover image for Clinical Genetics

November 2007

Volume 72, Issue 5

Pages 387–491

  1. Review

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. HotSpots
    5. Original Articles
    6. Short Reports
    7. 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. HotSpots
    5. Original Articles
    6. Short Reports
    7. Letters to the Editor
    1. Colorectal cancer survivors undergoing genetic testing for hereditary non-polyposis colorectal cancer: motivational factors and psychosocial functioning (pages 394–401)

      MJ Esplen, L Madlensky, M Aronson, H Rothenmund, S Gallinger, K Butler, B Toner, J Wong, M Manno and J McLaughlin

      Article first published online: 24 SEP 2007 | DOI: 10.1111/j.1399-0004.2007.00893.x

  3. HotSpots

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

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. HotSpots
    5. Original Articles
    6. Short Reports
    7. Letters to the Editor
    1. Crouzon with acanthosis nigricans. Further delineation of the syndrome (pages 405–410)

      L Arnaud-López, R Fragoso, J Mantilla-Capacho and P Barros-Núñez

      Article first published online: 2 SEP 2007 | DOI: 10.1111/j.1399-0004.2007.00884.x

    2. Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization (pages 411–419)

      N Brunetti-Pierri, DK Grange, Z Ou, DA Peiffer, SKG Peacock, ML Cooper, PA Eng, SR Lalani, AC Chinault, KL Gunderson, WJ Craigen and S-W Cheung

      Article first published online: 3 OCT 2007 | DOI: 10.1111/j.1399-0004.2007.00896.x

    3. Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia (pages 420–426)

      GDJ Watts, D Thomasova, SK Ramdeen, EC Fulchiero, SG Mehta, DA Drachman, CC Weihl, Z Jamrozik, H Kwiecinski, A Kaminska and VE Kimonis

      Article first published online: 11 OCT 2007 | DOI: 10.1111/j.1399-0004.2007.00887.x

  5. Short Reports

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. HotSpots
    5. Original Articles
    6. Short Reports
    7. Letters to the Editor
    1. GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease (pages 427–433)

      F Caroli, R Biancheri, M Seri, A Rossi, A Pessagno, M Bugiani, F Corsolini, S Savasta, S Romano, C Antonelli, A Romano, D Pareyson, P Gambero, G Uziel, R Ravazzolo, I Ceccherini and M Filocamo

      Article first published online: 25 SEP 2007 | DOI: 10.1111/j.1399-0004.2007.00869.x

    2. Pallister–Killian syndrome: tetrasomy of 12pter[RIGHTWARDS ARROW]12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome (pages 434–440)

      X-L Huang, M Isabel de Michelena, E Leon, TA Maher, R McClure and A Milunsky

      Article first published online: 25 SEP 2007 | DOI: 10.1111/j.1399-0004.2007.00894.x

    3. Formalin-fixed paraffin-embedded clinical tissues show spurious copy number changes in array-CGH profiles (pages 441–447)

      EA Mc Sherry, A Mc Goldrick, EW Kay, AM Hopkins, WM Gallagher and PA Dervan

      Article first published online: 28 AUG 2007 | DOI: 10.1111/j.1399-0004.2007.00882.x

    4. Cytogenetic and molecular characterization of the derivative Y chromosome: a case study of an azoospermic patient (pages 460–463)

      T Roovere, M Peters, N Horelli-Kuitunen, T Mölter-Väär, M Punab, S Rootsi, O Poolamets and A Salumets

      Article first published online: 5 SEP 2007 | DOI: 10.1111/j.1399-0004.2007.00885.x

    5. Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome (pages 464–470)

      E Engenheiro, J Saraiva, I Carreira, L Ramos, HH Ropers, E Silva, N Tommerup and Z Tümer

      Article first published online: 10 SEP 2007 | DOI: 10.1111/j.1399-0004.2007.00879.x

    6. A novel DFNA5 mutation, IVS8+4 A>G, in the splice donor site of intron 8 causes late-onset non-syndromic hearing loss in a Chinese family (pages 471–477)

      J Cheng, DY Han, P Dai, HJ Sun, R Tao, Q Sun, D Yan, W Qin, HY Wang, XM Ouyang, SZ Yang, JY Cao, GY Feng, LL Du, YZ Zhang, SQ Zhai, WY Yang, XZ Liu, L He and HJ Yuan

      Article first published online: 14 SEP 2007 | DOI: 10.1111/j.1399-0004.2007.00889.x

    7. TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population (pages 478–483)

      K Suphapeetiporn, S Tongkobpetch, P Siriwan and V Shotelersuk

      Article first published online: 14 SEP 2007 | DOI: 10.1111/j.1399-0004.2007.00891.x

  6. Letters to the Editor

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. HotSpots
    5. Original Articles
    6. Short Reports
    7. Letters to the Editor
    1. Parkin polymorphisms: risk for Parkinson’s disease in Indian population (pages 484–486)

      A Biswas, M Maulik, SK Das, Indian Genome Variation Consortium, K Ray and J Ray

      Article first published online: 5 SEP 2007 | DOI: 10.1111/j.1399-0004.2007.00878.x

    2. Prenatal diagnosis of Miller-Dieker syndrome by ultrasound and molecular cytogenetic analysis (pages 487–489)

      Elisabetta Lenzini, Giuseppina D’Ottavio, Angelo Città, Daniela Gambel Benussi, Vincenzo Petix and Vanna Pecile

      Article first published online: 10 SEP 2007 | DOI: 10.1111/j.1399-0004.2007.00830.x

    3. The homozygous deletion of the 3′ enhancer of the SHOX gene causes Langer mesomelic dysplasia (pages 490–491)

      R Bertorelli, L Capone, F Ambrosetti, L Garavelli, L Varriale, V Mazza, I Stanghellini, A Percesepe and A Forabosco

      Article first published online: 2 SEP 2007 | DOI: 10.1111/j.1399-0004.2007.00875.x

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