Human Mutation

Cover image for Human Mutation

July 2007

Volume 28, Issue 7

Pages v–vi, 641–742

  1. Editorial

    1. Top of page
    2. Editorial
    3. Publisher's Note
    4. Review Articles
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Letters to the Editor
    9. Mutations in Brief
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      Human Mutation bids farewell to co-editor Haig H. Kazazian, Jr. (page v)

      Richard G.H. Cotton

      Version of Record online: 22 JUN 2007 | DOI: 10.1002/humu.20597

  2. Publisher's Note

    1. Top of page
    2. Editorial
    3. Publisher's Note
    4. Review Articles
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Letters to the Editor
    9. Mutations in Brief
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  3. Review Articles

    1. Top of page
    2. Editorial
    3. Publisher's Note
    4. Review Articles
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Letters to the Editor
    9. Mutations in Brief
    1. Pathogenic mutations in Parkinson disease (pages 641–653)

      Eng-King Tan and Lisa M. Skipper

      Version of Record online: 26 MAR 2007 | DOI: 10.1002/humu.20507

  4. Databases

    1. Top of page
    2. Editorial
    3. Publisher's Note
    4. Review Articles
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Letters to the Editor
    9. Mutations in Brief
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    2. You have free access to this content
      RILM: a web-based resource to aid comparative and functional analysis of the insulin and IGF-1 receptor family (pages 660–668)

      Acely Garza-Garcia, Dhaval S. Patel, David Gems and Paul C. Driscoll

      Version of Record online: 22 FEB 2007 | DOI: 10.1002/humu.20491

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      A new variant database for mismatch repair genes associated with Lynch syndrome (pages 669–673)

      Michael O. Woods, Phillip Williams, Amanda Careen, Laura Edwards, Sylvia Bartlett, John R. McLaughlin and H. Banfield Younghusband

      Version of Record online: 8 MAR 2007 | DOI: 10.1002/humu.20502

  5. Rapid Communications

    1. Top of page
    2. Editorial
    3. Publisher's Note
    4. Review Articles
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Letters to the Editor
    9. Mutations in Brief
    1. Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation (pages 674–682)

      Reinhard Ullmann, Gillian Turner, Maria Kirchhoff, Wei Chen, Bruce Tonge, Carla Rosenberg, Michael Field, Angela M. Vianna-Morgante, Louise Christie, Ana C. Krepischi-Santos, Lynn Banna, Avril V. Brereton, Alyssa Hill, Anne-Marie Bisgaard, Ines Müller, Claus Hultschig, Fikret Erdogan, Georg Wieczorek and H. Hilger Ropers

      Version of Record online: 4 MAY 2007 | DOI: 10.1002/humu.20546

  6. Research Articles

    1. Top of page
    2. Editorial
    3. Publisher's Note
    4. Review Articles
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Letters to the Editor
    9. Mutations in Brief
    1. Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR) (pages 683–693)

      Philip A. Chan, Sekhar Duraisamy, Peter J. Miller, Joan A. Newell, Carole McBride, Jeffrey P. Bond, Tiina Raevaara, Saara Ollila, Minna Nyström, Andrew J. Grimm, John Christodoulou, William S. Oetting and Marc S. Greenblatt

      Version of Record online: 16 MAR 2007 | DOI: 10.1002/humu.20492

    2. Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene (pages 694–702)

      Eva Trevisson, Leonardo Salviati, Maria Cristina Baldoin, Irene Toldo, Alberto Casarin, Sabrina Sacconi, Luca Cesaro, Giuseppe Basso and Alberto B. Burlina

      Version of Record online: 26 FEB 2007 | DOI: 10.1002/humu.20498

    3. Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus (pages 703–709)

      E. Bal, L. Baala, C. Cluzeau, F. El Kerch, K. Ouldim, S. Hadj-Rabia, C. Bodemer, A. Munnich, G. Courtois, A. Sefiani and A. Smahi

      Version of Record online: 12 MAR 2007 | DOI: 10.1002/humu.20500

    4. Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment (pages 718–723)

      Rob W.J. Collin, Ersan Kalay, Jaap Oostrik, Refik Çaylan, Bernd Wollnik, Selçuk Arslan, Anneke I. den Hollander, Yelda Birinci, Peter Lichtner, Tim M. Strom, Bayram Toraman, Lies H. Hoefsloot, Cor W.R.J. Cremers, Han G. Brunner, Frans P.M. Cremers, Ahmet Karaguzel and Hannie Kremer

      Version of Record online: 20 MAR 2007 | DOI: 10.1002/humu.20510

    5. Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation (pages 724–731)

      Renata Bocciardi, Roberto Giorda, Jens Buttgereit, Stefania Gimelli, Maria Teresa Divizia, Silvana Beri, Silvio Garofalo, Sara Tavella, Margherita Lerone, Orsetta Zuffardi, Michael Bader, Roberto Ravazzolo and Giorgio Gimelli

      Version of Record online: 20 MAR 2007 | DOI: 10.1002/humu.20511

    6. Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects (pages 732–738)

      Petcharat Leoyklang, Kanya Suphapeetiporn, Pichit Siriwan, Tayard Desudchit, Pattraporn Chaowanapanja, William A Gahl and Vorasuk Shotelersuk

      Version of Record online: 21 MAR 2007 | DOI: 10.1002/humu.20515

  7. Letters to the Editor

    1. Top of page
    2. Editorial
    3. Publisher's Note
    4. Review Articles
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Letters to the Editor
    9. Mutations in Brief
    1. Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause (pages 739–740)

      Christian Beetz, Stephan Zuchner, Allison Ashley-Koch, Michaela Auer-Grumbach, Paula Byrne, Patrick F. Chinnery, Michael Hutchinson, Christopher J. McDermott, Inge A. Meijer, Anders O.H. Nygren, Margaret Pericak-Vance, Angela Pyle, Guy A. Rouleau, Jörg Schickel, Pamela J. Shaw and Thomas Deufel

      Version of Record online: 7 MAR 2007 | DOI: 10.1002/humu.20508

  8. Mutations in Brief

    1. Top of page
    2. Editorial
    3. Publisher's Note
    4. Review Articles
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Letters to the Editor
    9. Mutations in Brief
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      Women heterozygous for NALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations (page 741)

      Jinhua Qian, Catherine Deveault, Rashmi Bagga, Xing Xie and Rima Slim

      Version of Record online: 19 JUN 2007 | DOI: 10.1002/humu.9498

    2. You have free access to this content
    3. You have free access to this content
      A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region (page 742)

      Willy Lissens, Alessia Arena, Sara Seneca, Mohammad Rafi, Giovanni Sorge, Inge Liebaers, David Wenger and Agata Fiumara

      Version of Record online: 19 JUN 2007 | DOI: 10.1002/humu.9500

    4. You have free access to this content
      A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site (page 742)

      Kathryn P. Burdon, Shiwani Sharma, Celia S. Chen, David P. Dimasi, David A. Mackey and Jamie E. Craig

      Version of Record online: 19 JUN 2007 | DOI: 10.1002/humu.9501

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