Human Mutation

Copyright © 2012 Wiley Periodicals Inc.

Cover image for Human Mutation

January 2008

Volume 29, Issue 1

Pages 1–206

  1. Editorial

    1. Top of page
    2. Editorial
    3. Special Articles
    4. Mutation Updates
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Methods
    9. Mutations in Brief
    1. A new cover and new challenges for Human Mutation (page 1)

      Garry R. Cutting and Richard G.H. Cotton

      Article first published online: 21 DEC 2007 | DOI: 10.1002/humu.20697

  2. Special Articles

    1. Top of page
    2. Editorial
    3. Special Articles
    4. Mutation Updates
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Methods
    9. Mutations in Brief
    1. You have free access to this content
      Recommendations for locus-specific databases and their curation (pages 2–5)

      R.G.H. Cotton, A.D. Auerbach, J.S. Beckmann, O.O. Blumenfeld, A.J. Brookes, A.F. Brown, P. Carrera, D.W. Cox, B. Gottlieb, M.S. Greenblatt, P. Hilbert, H. Lehvaslaiho, P. Liang, S. Marsh, D.W. Nebert, S. Povey, S. Rossetti, C.R. Scriver, M. Summar, D.R. Tolan, I.C. Verma, M. Vihinen and J.T. den Dunnen

      Article first published online: 21 DEC 2007 | DOI: 10.1002/humu.20650

    2. You have free access to this content
      Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker (pages 6–13)

      Martin Wildeman, Ernest van Ophuizen, Johan T. den Dunnen and Peter E.M. Taschner

      Article first published online: 13 NOV 2007 | DOI: 10.1002/humu.20654

  3. Mutation Updates

    1. Top of page
    2. Editorial
    3. Special Articles
    4. Mutation Updates
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Methods
    9. Mutations in Brief
    1. Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene (pages 14–21)

      Maria Pia Sperandeo, Generoso Andria and Gianfranco Sebastio

      Article first published online: 31 AUG 2007 | DOI: 10.1002/humu.20589

    2. Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene (pages 22–32)

      Manuel C. Lemos and Rajesh V. Thakker

      Article first published online: 24 AUG 2007 | DOI: 10.1002/humu.20605

  4. Databases

    1. Top of page
    2. Editorial
    3. Special Articles
    4. Mutation Updates
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Methods
    9. Mutations in Brief
    1. You have free access to this content
      A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2 (pages 33–38)

      Melissa Yana Frederic, Dalil Hamroun, Laurence Faivre, Catherine Boileau, Guillaume Jondeau, Mireille Claustres, Christophe Béroud and Gwenaëlle Collod-Béroud

      Article first published online: 12 OCT 2007 | DOI: 10.1002/humu.20602

    2. You have free access to this content
      GPCR NaVa database: natural variants in human G protein-coupled receptors (pages 39–44)

      Jeroen Kazius, Kerstin Wurdinger, Maarten van Iterson, Joost Kok, Thomas Bäck and Ad P. IJzerman

      Article first published online: 9 OCT 2007 | DOI: 10.1002/humu.20638

  5. Rapid Communications

    1. Top of page
    2. Editorial
    3. Special Articles
    4. Mutation Updates
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Methods
    9. Mutations in Brief
    1. Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome (pages 45–52)

      Valeska Frank, Anneke I. den Hollander, Nadina Ortiz Brüchle, Marijke N. Zonneveld, Gudrun Nürnberg, Christian Becker, Gabriele Du Bois, Heide Kendziorra, Susanne Roosing, Jan Senderek, Peter Nürnberg, Frans P.M. Cremers, Klaus Zerres and Carsten Bergmann

      Article first published online: 17 AUG 2007 | DOI: 10.1002/humu.20614

    2. Progranulin locus deletion in frontotemporal dementia (pages 53–58)

      I. Gijselinck, J. van der Zee, S. Engelborghs, D. Goossens, K. Peeters, M. Mattheijssens, E. Corsmit, J. Del-Favero, P.P. De Deyn, C. Van Broeckhoven and M. Cruts

      Article first published online: 21 DEC 2007 | DOI: 10.1002/humu.20651

  6. Research Articles

    1. Top of page
    2. Editorial
    3. Special Articles
    4. Mutation Updates
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Methods
    9. Mutations in Brief
    1. You have full text access to this OnlineOpen article
      Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency (pages 59–64)

      Birgit Köhler, Lin Lin, Bruno Ferraz-de-Souza, Peter Wieacker, Peter Heidemann, Vanessa Schröder, Heike Biebermann, Dirk Schnabel, Annette Grüters and John C. Achermann

      Article first published online: 10 AUG 2007 | DOI: 10.1002/humu.20588

    2. Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins? (pages 65–73)

      Olga Anczuków, Mark D. Ware, Monique Buisson, Almoutassem B. Zetoune, Dominique Stoppa-Lyonnet, Olga M. Sinilnikova and Sylvie Mazoyer

      Article first published online: 10 AUG 2007 | DOI: 10.1002/humu.20590

    3. Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs) (pages 74–82)

      M. Upadhyaya, Lan Kluwe, G. Spurlock, Bisma Monem, E. Majounie, K. Mantripragada, Martino Ruggieri, N. Chuzhanova, D.G. Evans, R. Ferner, N. Thomas, A. Guha and V. Mautner

      Article first published online: 25 OCT 2007 | DOI: 10.1002/humu.20601

    4. Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome (pages 83–90)

      Audrey McAlinden, Marja Majava, Paul N. Bishop, Rahat Perveen, Graeme CM. Black, Mary Ella Pierpont, Leena Ala-Kokko and Minna Männikkö

      Article first published online: 22 AUG 2007 | DOI: 10.1002/humu.20603

    5. Identification of the first germline mutation in the extracellular domain of the follitropin receptor responsible for spontaneous ovarian hyperstimulation syndrome (pages 91–98)

      Anne De Leener, Gianluigi Caltabiano, Sanly Erkan, Mehmet Idil, Gilbert Vassart, Leonardo Pardo and Sabine Costagliola

      Article first published online: 22 AUG 2007 | DOI: 10.1002/humu.20604

    6. Characterization of the interactions of human ZIC3 mutants with GLI3 (pages 99–105)

      Lirong Zhu, Guisheng Zhou, Suzanne Poole and John W. Belmont

      Article first published online: 31 AUG 2007 | DOI: 10.1002/humu.20606

    7. Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons (pages 106–112)

      Simone Schimpf, Nico Fuhrmann, Simone Schaich and Bernd Wissinger

      Article first published online: 22 AUG 2007 | DOI: 10.1002/humu.20607

    8. A variant of the Cockayne syndrome B gene ERCC6 confers risk of lung cancer (pages 113–122)

      Zhongning Lin, Xuemei Zhang, Jingsheng Tuo, Yongli Guo, Bridgett Green, Chi-Chao Chan, Wen Tan, Ying Huang, Wenhua Ling, Fred F. Kadlubar, Dongxin Lin and Baitang Ning

      Article first published online: 13 SEP 2007 | DOI: 10.1002/humu.20610

    9. Functional analysis of promoter variants in the microsomal triglyceride transfer protein (MTTP) gene (pages 123–129)

      Diana Rubin, Alexandra Schneider-Muntau, Maja Klapper, Inke Nitz, Ulf Helwig, Ulrich R. Fölsch, Jürgen Schrezenmeir and Frank Döring

      Article first published online: 13 SEP 2007 | DOI: 10.1002/humu.20615

    10. An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss (pages 130–141)

      Michel Guipponi, Min-Yen Toh, Justin Tan, Daeho Park, Kelly Hanson, Ester Ballana, David Kwong, Ping Z.F. Cannon, Qingyu Wu, Alex Gout, Mauro Delorenzi, Terence P. Speed, Richard J.H. Smith, Henrik H. Dahl, Michael Petersen, Rohan D. Teasdale, Xavier Estivill, Woo Jin Park and Hamish S. Scott

      Article first published online: 5 OCT 2007 | DOI: 10.1002/humu.20617

    11. Type 2 diabetes-associated fatty acid binding protein 2 promoter haplotypes are differentially regulated by GATA factors (pages 142–149)

      Maja Klapper, Mike Böhme, Inke Nitz and Frank Döring

      Article first published online: 25 OCT 2007 | DOI: 10.1002/humu.20618

    12. Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families (pages 150–158)

      B.L. Callewaert, A. Willaert, W.S. Kerstjens-Frederikse, J. De Backer, K. Devriendt, B. Albrecht, M.A. Ramos-Arroyo, M. Doco-Fenzy, R.C.M. Hennekam, R.E. Pyeritz, O.N. Krogmann, G. Gillessen-kaesbach, E.L. Wakeling, S. Nik-zainal, C. Francannet, P. Mauran, C. Booth, M. Barrow, R. Dekens, B.L. Loeys, P.J. Coucke and A.M. De Paepe

      Article first published online: 12 OCT 2007 | DOI: 10.1002/humu.20623

    13. Genetic subtyping of Fanconi anemia by comprehensive mutation screening (pages 159–166)

      Najim Ameziane, Abdellatif Errami, France Léveillé, Chantal Fontaine, Yne de Vries, Rosalina M.L. van Spaendonk, Johan P. de Winter, Gerard Pals and Hans Joenje

      Article first published online: 9 OCT 2007 | DOI: 10.1002/humu.20625

    14. Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency (pages 167–175)

      Marcel R. Zurflüh, Johannes Zschocke, Martin Lindner, François Feillet, Céline Chery, Alberto Burlina, Raymond C. Stevens, Beat Thöny and Nenad Blau

      Article first published online: 12 OCT 2007 | DOI: 10.1002/humu.20637

  7. Methods

    1. Top of page
    2. Editorial
    3. Special Articles
    4. Mutation Updates
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Methods
    9. Mutations in Brief
    1. Representational oligonucleotide microarray analysis (ROMA) and comparison of binning and change-point methods of analysis: application to detection of del22q11.2 (DiGeorge) Syndrome (pages 176–181)

      Christopher M. Stanczak, Zugen Chen, Stanley F. Nelson, Marc Suchard, Edward R.B. McCabe and Sean McGhee

      Article first published online: 10 AUG 2007 | DOI: 10.1002/humu.20593

    2. Multiplex PCR-based real-time invader assay (mPCR-RETINA): a novel SNP-based method for detecting allelic asymmetries within copy number variation regions (pages 182–189)

      Naoya Hosono, Michiaki Kubo, Yumiko Tsuchiya, Hiroko Sato, Takuya Kitamoto, Susumu Saito, Yozo Ohnishi and Yusuke Nakamura

      Article first published online: 24 AUG 2007 | DOI: 10.1002/humu.20609

    3. Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients (pages 190–197)

      Fanyi Zeng, Zhao-Rui Ren, Shang-Zhi Huang, Margot Kalf, Monique Mommersteeg, Maarten Smit, Stefan White, Chun-Lian Jin, Miao Xu, Da-Wen Zhou, Jing-Bin Yan, Mei-Jue Chen, Rinie van Beuningen, Shu-Zhen Huang, Johan den Dunnen, Yi-Tao Zeng and Ying Wu

      Article first published online: 13 SEP 2007 | DOI: 10.1002/humu.20613

    4. Use of estimated evolutionary strength at the codon level improves the prediction of disease-related protein mutations in humans (pages 198–204)

      Emidio Capriotti, Leonardo Arbiza, Rita Casadio, Joaquín Dopazo, Hernán Dopazo and Marc A. Marti-Renom

      Article first published online: 12 OCT 2007 | DOI: 10.1002/humu.20628

  8. Mutations in Brief

    1. Top of page
    2. Editorial
    3. Special Articles
    4. Mutation Updates
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Methods
    9. Mutations in Brief
    1. You have free access to this content
      Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart (page 205)

      Olivier M. Vanakker, Bart P. Leroy, Paul Coucke, Lionel G. Bercovitch, Jouni Uitto, Dennis Viljoen, Sharon F. Terry, Petra Van Acker, Dirk Matthys, Bart Loeys and Anne De Paepe

      Article first published online: 21 DEC 2007 | DOI: 10.1002/humu.9514

    2. You have free access to this content
      Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency (page 205)

      Lars Schlotawa, Robert Steinfeld, Kurt von Figura, Thomas Dierks and Jutta Gärtner

      Article first published online: 21 DEC 2007 | DOI: 10.1002/humu.9515

    3. You have free access to this content
      Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome (page 206)

      Sara Parodi, Tiziana Bachetti, Francesca Lantieri, Marco Di Duca, Giuseppe Santamaria, Giancarlo Ottonello, Ivana Matera, Roberto Ravazzolo and Isabella Ceccherini

      Article first published online: 21 DEC 2007 | DOI: 10.1002/humu.9516

    4. You have free access to this content
      An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1 (page 206)

      François-Yves Dupradeau, Serge Pissard, Marie-Pierre Coulhon, Estelle Cadet, Karine Foulon, Christine Fourcade, Michel Goossens, David Andrew Case and Jacques Rochette

      Article first published online: 21 DEC 2007 | DOI: 10.1002/humu.9517

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