Human Mutation

Cover image for Vol. 32 Issue 12

December 2011

Volume 32, Issue 12

Pages iv–iv, 1335–1509, E2308–E2316

  1. In this issue

    1. Top of page
    2. In this issue
    3. Databases
    4. Informatics
    5. Brief Reports
    6. Research Articles
    7. Methods
    8. Letter to the Editors
    9. Database In Brief
    1. You have free access to this content
    2. You have free access to this content
  2. Databases

    1. Top of page
    2. In this issue
    3. Databases
    4. Informatics
    5. Brief Reports
    6. Research Articles
    7. Methods
    8. Letter to the Editors
    9. Database In Brief
    1. Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population (pages 1335–1340)

      Min Pan, Peikuan Cong, Yue Wang, Changsong Lin, Ying Yuan, Jian Dong, Santasree Banerjee, Tao Zhang, Yanling Chen, Ting Zhang, Mingqing Chen, Peter Hu, Shu Zheng, Jin Zhang and Ming Qi

      Article first published online: 20 OCT 2011 | DOI: 10.1002/humu.21588

    2. SgD-CNV, a database for common and rare copy number variants in three Asian populations (pages 1341–1349)

      Haiyan Xu, Wan-Ting Poh, Xueling Sim, Rick Twee-Hee Ong, Chen Suo, Wan-Ting Tay, Chiea-Chuen Khor, Mark Seielstad, Jianjun Liu, Tin Aung, E-Shyong Tai, Tien-Yin Wong, Kee-Seng Chia and Yik-Ying Teo

      Article first published online: 30 SEP 2011 | DOI: 10.1002/humu.21601

  3. Informatics

    1. Top of page
    2. In this issue
    3. Databases
    4. Informatics
    5. Brief Reports
    6. Research Articles
    7. Methods
    8. Letter to the Editors
    9. Database In Brief
    1. DominantMapper: Rule-based analysis of SNP data for rapid mapping of dominant diseases in related nuclear families (pages 1359–1366)

      Ian M. Carr, Colin A. Johnson, Alex F. Markham, Carmel Toomes, David T. Bonthron and Eamonn G. Sheridan

      Article first published online: 19 SEP 2011 | DOI: 10.1002/humu.21597

  4. Brief Reports

    1. Top of page
    2. In this issue
    3. Databases
    4. Informatics
    5. Brief Reports
    6. Research Articles
    7. Methods
    8. Letter to the Editors
    9. Database In Brief
    1. Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects (pages 1371–1375)

      Ciprian M. Bosoi, Valeria Capra, Redouane Allache, Vincent Quoc-Huy Trinh, Patrizia De Marco, Elisa Merello, Pierre Drapeau, Alexander G. Bassuk and Zoha Kibar

      Article first published online: 23 SEP 2011 | DOI: 10.1002/humu.21589

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      SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours (pages 1376–1380)

      Kyriaki S. Alatzoglou, Cynthia L. Andoniadou, Daniel Kelberman, Charles R. Buchanan, John Crolla, Maria Cristina Arriazu, Martin Roubicek, Daniel Moncet, Juan P. Martinez-Barbera and Mehul T. Dattani

      Article first published online: 11 OCT 2011 | DOI: 10.1002/humu.21606

    3. Extending the phenotypes associated with DICER1 mutations (pages 1381–1384)

      William D. Foulkes, Amin Bahubeshi, Nancy Hamel, Barbara Pasini, Sofia Asioli, Gareth Baynam, Catherine S. Choong, Adrian Charles, Richard P. Frieder, Megan K. Dishop, Nicole Graf, Mesiha Ekim, Dorothée Bouron-Dal Soglio, Jocelyne Arseneau, Robert H. Young, Nelly Sabbaghian, Archana Srivastava, Marc D. Tischkowitz and John R. Priest

      Article first published online: 11 OCT 2011 | DOI: 10.1002/humu.21600

    4. Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension (pages 1385–1389)

      Md. Talat Nasim, Takeshi Ogo, Mohammad Ahmed, Rebecca Randall, Hasnin M. Chowdhury, Katie M. Snape, Teisha Y. Bradshaw, Laura Southgate, Grace J. Lee, Ian Jackson, Graham M. Lord, J. Simon R. Gibbs, Martin R. Wilkins, Keiko Ohta-Ogo, Kazufumi Nakamura, Barbara Girerd, Florence Coulet, Florent Soubrier, Marc Humbert, Nicholas W. Morrell, Richard C. Trembath and Rajiv D. Machado

      Article first published online: 11 OCT 2011 | DOI: 10.1002/humu.21605

  5. Research Articles

    1. Top of page
    2. In this issue
    3. Databases
    4. Informatics
    5. Brief Reports
    6. Research Articles
    7. Methods
    8. Letter to the Editors
    9. Database In Brief
    1. Mutations in LRRK2 increase phosphorylation of peroxiredoxin 3 exacerbating oxidative stress-induced neuronal death (pages 1390–1397)

      Dario C. Angeles, Bong-Hwa Gan, Luisa Onstead, Yi Zhao, Kah-Leong Lim, Justus Dachsel, Heather Melrose, Matt Farrer, Zbigniew K. Wszolek, Dennis W. Dickson and Eng-King Tan

      Article first published online: 12 SEP 2011 | DOI: 10.1002/humu.21582

    2. Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response (pages 1398–1406)

      Bernd Wissinger, Simone Schaich, Britta Baumann, Michael Bonin, Herbert Jägle, Christoph Friedburg, Balázs Varsányi, Carel B. Hoyng, Hélène Dollfus, John R. Heckenlively, Thomas Rosenberg, Günter Rudolph, Ulrich Kellner, Roberto Salati, Astrid Plomp, Elfride De Baere, Monika Andrassi-Darida, Alexandra Sauer, Christiane Wolf, Ditta Zobor, Antje Bernd, Bart P. Leroy, Péter Enyedi, Frans P.M. Cremers, Birgit Lorenz, Eberhart Zrenner and Susanne Kohl

      Article first published online: 12 SEP 2011 | DOI: 10.1002/humu.21580

    3. Evidence of association of APOE with age-related macular degeneration - a pooled analysis of 15 studies (pages 1407–1416)

      Gareth J. McKay, Chris C. Patterson, Usha Chakravarthy, Shilpa Dasari, Caroline C. Klaver, Johannes R. Vingerling, Lintje Ho, Paulus T.V.M. de Jong, Astrid E. Fletcher, Ian S. Young, Johan H. Seland, Mati Rahu, Gisele Soubrane, Laura Tomazzoli, Fotis Topouzis, Jesus Vioque, Aroon D. Hingorani, Reecha Sofat, Michael Dean, Julie Sawitzke, Johanna M. Seddon, Inga Peter, Andrew R. Webster, Anthony T. Moore, John R.W. Yates, Valentina Cipriani, Lars G. Fritsche, Bernhard H.F. Weber, Claudia N. Keilhauer, Andrew J. Lotery, Sarah Ennis, Michael L. Klein, Peter J. Francis, Dwight Stambolian, Anton Orlin, Michael B. Gorin, Daniel E. Weeks, Chia-Ling Kuo, Anand Swaroop, Mohammad Othman, Atsuhiro Kanda, Wei Chen, Goncalo R. Abecasis, Alan F. Wright, Caroline Hayward, Paul N. Baird, Robyn H. Guymer, John Attia, Ammarin Thakkinstian and Giuliana Silvestri

      Article first published online: 12 SEP 2011 | DOI: 10.1002/humu.21577

    4. First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the STRA6 phenotype (pages 1417–1426)

      Jillian Casey, Riki Kawaguchi, Maria Morrissey, Hui Sun, Paul McGettigan, Jens E. Nielsen, Judith Conroy, Regina Regan, Elaine Kenny, Paul Cormican, Derek W. Morris, Peter Tormey, Muireann Ní Chróinín, Breandan N. Kennedy, SallyAnn Lynch, Andrew Green and Sean Ennis

      Article first published online: 29 SEP 2011 | DOI: 10.1002/humu.21590

    5. High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations (pages 1427–1435)

      Roxana Kariminejad, Allan Lind-Thomsen, Zeynep Tümer, Fikret Erdogan, Hans H. Ropers, Niels Tommerup, Reinhard Ullmann and Rikke S. Møller

      Article first published online: 23 SEP 2011 | DOI: 10.1002/humu.21585

    6. Identification and functional analysis of SOX10 missense mutations in different subtypes of waardenburg syndrome (pages 1436–1449)

      Asma Chaoui, Yuli Watanabe, Renaud Touraine, Viviane Baral, Michel Goossens, Veronique Pingault and Nadege Bondurand

      Article first published online: 19 SEP 2011 | DOI: 10.1002/humu.21583

    7. Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with leber congenital amaurosis (pages 1450–1459)

      Xia Wang, Hui Wang, Ming Cao, Zhe Li, Xianfeng Chen, Claire Patenia, Athurva Gore, Emad B. Abboud, Ali A. Al-Rajhi, Richard A. Lewis, James R. Lupski, Graeme Mardon, Kun Zhang, Donna Muzny, Richard A. Gibbs and Rui Chen

      Article first published online: 23 SEP 2011 | DOI: 10.1002/humu.21587

    8. Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase (pages 1460–1469)

      Gabriella Esposito, Francesca De Falco, Nadia Tinto, Francesco Testa, Luigi Vitagliano, Igor Cristian Maria Tandurella, Lucio Iannone, Settimio Rossi, Ernesto Rinaldi, Francesca Simonelli, Adriana Zagari and Francesco Salvatore

      Article first published online: 11 OCT 2011 | DOI: 10.1002/humu.21591

    9. Assessment of human nter and cter BRCA1 mutations using growth and localization assays in yeast (pages 1470–1480)

      Gaël A. Millot, Adeline Berger, Vincent Lejour, Jean-Baptiste Boulé, Claude Bobo, Christophe Cullin, Judith Lopes, Dominique Stoppa-Lyonnet and Alain Nicolas

      Article first published online: 20 OCT 2011 | DOI: 10.1002/humu.21608

    10. You have free access to this content
    11. You have free access to this content
      Enhancer-adoption as a mechanism of human developmental disease (pages 1492–1499)

      Laura A. Lettice, Sarah Daniels, Elizabeth Sweeney, Shanmugasundaram Venkataraman, Paul S. Devenney, Philippe Gautier, Harris Morrison, Judy Fantes, Robert E. Hill and David R. FitzPatrick

      Article first published online: 20 OCT 2011 | DOI: 10.1002/humu.21615

  6. Methods

    1. Top of page
    2. In this issue
    3. Databases
    4. Informatics
    5. Brief Reports
    6. Research Articles
    7. Methods
    8. Letter to the Editors
    9. Database In Brief
    1. Extending the scope of diagnostic chromosome analysis: Detection of single gene defects using high-resolution SNP microarrays (pages 1500–1506)

      Damien L. Bruno, Zornitza Stark, David J. Amor, Trent Burgess, Kathy Butler, Sylvea Corrie, David Francis, Devika Ganesamoorthy, Louise Hills, Paul A. James, Darren O'Rielly, Ralph Oertel, Ravi Savarirayan, Krishnamurthy Prabhakara, Nicholas Salce and Howard R. Slater

      Article first published online: 19 SEP 2011 | DOI: 10.1002/humu.21581

  7. Letter to the Editors

    1. Top of page
    2. In this issue
    3. Databases
    4. Informatics
    5. Brief Reports
    6. Research Articles
    7. Methods
    8. Letter to the Editors
    9. Database In Brief
    1. You have free access to this content
  8. Database In Brief

    1. Top of page
    2. In this issue
    3. Databases
    4. Informatics
    5. Brief Reports
    6. Research Articles
    7. Methods
    8. Letter to the Editors
    9. Database In Brief
    1. You have free access to this content

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