Human Mutation

Cover image for Human Mutation

August 2003

Volume 22, Issue 2

Pages 107–180

  1. Mutation Update

    1. Top of page
    2. Mutation Update
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Letters to the Editors
    7. Mutations in Brief
    1. Mutations and polymorphisms in the human methyl CpG-binding protein MECP2 (pages 107–115)

      Gabriel Miltenberger-Miltenyi and Franco Laccone

      Version of Record online: 20 JUN 2003 | DOI: 10.1002/humu.10243

  2. Rapid Communication

    1. Top of page
    2. Mutation Update
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Letters to the Editors
    7. Mutations in Brief
  3. Research Articles

    1. Top of page
    2. Mutation Update
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Letters to the Editors
    7. Mutations in Brief
    1. Mutational analysis of the BRCA1-interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2-negative probands from breast-ovarian cancer families and among early-onset breast cancer cases and reference individuals (pages 121–128)

      Joni L. Rutter, Amelia M. Smith, Michael R. Dávila, Alice J. Sigurdson, Ruthann M. Giusti, Marbin A. Pineda, Michele M. Doody, Margaret A. Tucker, Mark H. Greene, Jinghui Zhang and Jeffery P. Struewing

      Version of Record online: 13 JUN 2003 | DOI: 10.1002/humu.10238

    2. Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease (pages 129–135)

      Michael Hunter, Rafaëlle Bernard, Elizabeth Freitas, Amandine Boyer, Bharti Morar, Ian J. Martins, Ivailo Tournev, Albena Jordanova, Velina Guergelcheva, Boryana Ishpekova, Ivo Kremensky, Garth Nicholson, Beate Schlotter, Hanns Lochmüller, Thomas Voit, Jaume Colomer, P.K. Thomas, Nicolas Levy and Luba Kalaydjieva

      Version of Record online: 23 JUN 2003 | DOI: 10.1002/humu.10240

    3. A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene (pages 136–143)

      Ivon Cuscó, Eva López, Carolina Soler-Botija, María Jesús Barceló, Montserrat Baiget and Eduardo F. Tizzano

      Version of Record online: 20 JUN 2003 | DOI: 10.1002/humu.10245

    4. Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) Causes a Novel Congenital Disorder of Glycosylation Type Ij (pages 144–150)

      Xiaohua Wu, Jeffrey S. Rush, Denise Karaoglu, Donna Krasnewich, Mark S. Lubinsky, Charles J. Waechter, Reid Gilmore and Hudson H. Freeze

      Version of Record online: 23 JUN 2003 | DOI: 10.1002/humu.10239

  4. Methods

    1. Top of page
    2. Mutation Update
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Letters to the Editors
    7. Mutations in Brief
    1. Evaluation of multiplex capillary heteroduplex analysis: A rapid and sensitive mutation screening technique (pages 151–157)

      Bethan E. Hoskins, Anita Thorn, Peter J. Scambler and Philip L. Beales

      Version of Record online: 20 JUN 2003 | DOI: 10.1002/humu.10241

    2. Detection and assignment of TP53 mutations in tumor DNA using peptide mass signature genotyping (pages 158–165)

      Cheryl A. Telmer, Jiyan An, David E. Malehorn, Xuemei Zeng, Susanne M. Gollin, Chandramohan S. Ishwad and Jonathan W. Jarvik

      Version of Record online: 23 JUN 2003 | DOI: 10.1002/humu.10248

  5. Letters to the Editors

    1. Top of page
    2. Mutation Update
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Letters to the Editors
    7. Mutations in Brief
    1. Mitochondrial DNA variant 16189T>C is associated with susceptibility to endometrial cancer (pages 173–174)

      Vincent W.S. Liu, Yue Wang, Hui-Juan Yang, Percy C.K. Tsang, Tong-Yow Ng, Ling-Chui Wong, Phillip Nagley and Hextan Y.S. Ngan

      Version of Record online: 20 JUN 2003 | DOI: 10.1002/humu.10244

    2. Digenic progressive external ophthalmoplegia in a sporadic patient: Recessive mutations in POLG and C10orf2/Twinkle (pages 175–176)

      Gert Van Goethem, Ann Löfgren, Bart Dermaut, Chantal Ceuterick, Jean-Jacques Martin and Christine Van Broeckhoven

      Version of Record online: 20 JUN 2003 | DOI: 10.1002/humu.10246

  6. Mutations in Brief

    1. Top of page
    2. Mutation Update
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Letters to the Editors
    7. Mutations in Brief
    1. You have free access to this content
      Detection of mitochondrial DNA mutations in gestational trophoblastic disease (page 177)

      Pui Man Chiu, Vincent W.S. Liu, Hextan Y.S. Ngan, Ui Soon Khoo and Annie N.Y. Cheung

      Version of Record online: 14 JUL 2003 | DOI: 10.1002/humu.9160

    2. You have free access to this content
      Novel intronic polymorphisms in the RET proto-oncogene and their association with Hirschsprung disease (page 177)

      Guido Fitze, Mandy Schierz, Eberhard Kuhlisch, Matthias Schreiber, Andreas Ziegler, Dietmar Roesner and Hans K. Schackert

      Version of Record online: 14 JUL 2003 | DOI: 10.1002/humu.9161

    3. You have free access to this content
      Founder mutation in the BRCA1 gene in Malay breast cancer patients from Singapore (page 178)

      Ann S.G. Lee, G.H. Ho, P.C. Oh, C. Balram, L.L. Ooi, D.T.H. Lim, C.Y. Wong and G.S. Hong

      Version of Record online: 14 JUL 2003 | DOI: 10.1002/humu.9162

    4. You have free access to this content
      Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemia (page 178)

      A.J. Whitfield, A.D. Marais, K. Robertson, P.H.R. Barrett, F.M. van Bockxmeer and J.R. Burnett

      Version of Record online: 14 JUL 2003 | DOI: 10.1002/humu.9163

    5. You have free access to this content
      BRCA1 and BRCA2 mutations in breast/ovarian cancer patients from central Italy (pages 178–179)

      L. Stuppia, P. Di Fulvio, G. Aceto, S. Pintor, S. Veschi, V. Gatta, A. Colosimo, E. Cianchetti, A. Cama, R. Mariani-Costantini, P. Battista and G. Palka

      Version of Record online: 14 JUL 2003 | DOI: 10.1002/humu.9164

    6. You have free access to this content
      Myocilin analysis by DHPLC in French POAG patients: Increased prevalence of Q368X mutation (page 179)

      Rahma Melki, Ahmed Belmouden, Antoine Brézin and Henri-Jean Garchon

      Version of Record online: 14 JUL 2003 | DOI: 10.1002/humu.9165

    7. You have free access to this content
      Neurofibromatosis eurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients (pages 179–180)

      Paola Origone, Carlo Bellini, Debora Sambarino, Barbara Banelli, Guido Morcaldi, Carmen La Rosa, Franco Stanzial, Claudio Castellan, Domenico A. Coviello, Cecilia Garrè and Eugenio Bonioli

      Version of Record online: 14 JUL 2003 | DOI: 10.1002/humu.9166

    8. You have free access to this content
      The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria (page 180)

      Barbara Günther, Andrea Steiner, Doris Nekahm-Heis, Klaus Albegger, Patrick Zorowka, Gerd Utermann and Andreas Janecke

      Version of Record online: 14 JUL 2003 | DOI: 10.1002/humu.9167

    9. You have free access to this content
      Polymorphisms in fatty acid-binding protein-3 (FABP3) – putative association with type 2 diabetes mellitus (page 180)

      Hyoung Doo Shin, Lyoung Hyo Kim, Byung Lae Park, Hye Seung Jung, Young Min Cho, Min Kyong Moon, Hong Kyu Lee and Kyong Soo Park

      Version of Record online: 14 JUL 2003 | DOI: 10.1002/humu.9168

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