Human Mutation

Cover image for Human Mutation

March 2005

Volume 25, Issue 3

Pages 225–325

  1. Databases

    1. Top of page
    2. Databases
    3. Rapid Communications
    4. Research Articles
    5. Methods
    6. Letters to the Editors
    7. Erratum
    8. Errata
    9. Mutations in Brief
    1. Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD) (pages 225–231)

      Carsten Bergmann, Fabian Küpper, Christian Dornia, Frank Schneider, Jan Senderek and Klaus Zerres

      Article first published online: 10 FEB 2005 | DOI: 10.1002/humu.20145

  2. Rapid Communications

    1. Top of page
    2. Databases
    3. Rapid Communications
    4. Research Articles
    5. Methods
    6. Letters to the Editors
    7. Erratum
    8. Errata
    9. Mutations in Brief
    1. MALDI-TOF MS and TaqMan® assisted SNP genotyping of DNA isolated from formalin-fixed and paraffin-embedded tissues (FFPET) (pages 232–238)

      Malgorzata Jaremko, Christina Justenhoven, Benny K. Abraham, Werner Schroth, Peter Fritz, Sandra Brod, Caren Vollmert, Thomas Illig and Hiltrud Brauch

      Article first published online: 10 FEB 2005 | DOI: 10.1002/humu.20141

  3. Research Articles

    1. Top of page
    2. Databases
    3. Rapid Communications
    4. Research Articles
    5. Methods
    6. Letters to the Editors
    7. Erratum
    8. Errata
    9. Mutations in Brief
    1. cblE Type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression (pages 239–247)

      Petra Zavadáková, Brian Fowler, Terttu Suormala, Zorka Novotna, Peter Mueller, Julia B. Hennermann, Jiří Zeman, M. Antonia Vilaseca, Laura Vilarinho, Sven Gutsche, Ekkehard Wilichowski, Gerd Horneff and Viktor Kožich

      Article first published online: 15 FEB 2005 | DOI: 10.1002/humu.20131

    2. Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases (pages 248–258)

      Koji M. Nishiguchi, Michael A. Sandberg, Nasim Gorji, Eliot L. Berson and Thaddeus P. Dryja

      Article first published online: 11 FEB 2005 | DOI: 10.1002/humu.20142

    3. Molecular diversity and thrombotic risk in protein S deficiency: The PROSIT study (pages 259–269)

      Eugenia Biguzzi, Cristina Razzari, David A. Lane, Giancarlo Castaman, Antonio Cappellari, Paolo Bucciarelli, Gessica Fontana, Maurizio Margaglione, Giovanna D'Andrea, Rachel E. Simmonds, Suely M. Rezende, Roger Preston, Domenico Prisco and Elena M. Faioni

      Article first published online: 11 FEB 2005 | DOI: 10.1002/humu.20136

    4. Genetic association of the APP binding protein 2 gene (APBB2) with late onset Alzheimer disease (pages 270–277)

      Yonghong Li, Paul Hollingworth, Pamela Moore, Catherine Foy, Nicola Archer, John Powell, Petra Nowotny, Peter Holmans, Michael O'Donovan, Kristina Tacey, Lisa Doil, Ryan van Luchene, Veronica Garcia, Charles Rowland, Kit Lau, Joseph Cantanese, John Sninsky, John Hardy, Leon Thal, John C. Morris, Alison Goate, Simon Lovestone, Michael Owen, Julie Williams and Andrew Grupe

      Article first published online: 15 FEB 2005 | DOI: 10.1002/humu.20138

    5. Role of β-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis (pages 285–292)

      Anna Caciotti, Maria Alice Donati, Avihu Boneh, Alessandra d'Azzo, Antonio Federico, Rossella Parini, Danielas Antuzzi, Tiziana Bardelli, Daniele Nosi, Virginia Kimonis, Enrico Zammarchi and Amelia Morrone

      Article first published online: 15 FEB 2005 | DOI: 10.1002/humu.20147

    6. Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles (pages 293–298)

      Ljubica Caldovic, Hiroki Morizono, Maria G. Panglao, Giselle Y. Lopez, Dashuang Shi, Marshall L. Summar and Mendel Tuchman

      Article first published online: 15 FEB 2005 | DOI: 10.1002/humu.20146

  4. Methods

    1. Top of page
    2. Databases
    3. Rapid Communications
    4. Research Articles
    5. Methods
    6. Letters to the Editors
    7. Erratum
    8. Errata
    9. Mutations in Brief
    1. Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene (pages 306–313)

      Steven F. Dobrowolski, Jason T. McKinney, Cristina Amat di San Filippo, Keow Giak Sim, Bridget Wilcken and Nicola Longo

      Article first published online: 15 FEB 2005 | DOI: 10.1002/humu.20137

  5. Letters to the Editors

    1. Top of page
    2. Databases
    3. Rapid Communications
    4. Research Articles
    5. Methods
    6. Letters to the Editors
    7. Erratum
    8. Errata
    9. Mutations in Brief
    1. How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome? (pages 314–315)

      Oscar T. Suzuki, Kelly Bagatini, Andréa L. Sertié and Maria Rita Passos-Bueno

      Article first published online: 15 FEB 2005 | DOI: 10.1002/humu.20139

    2. A response to Suzuki et al. “How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome?” (page 316)

      Stylianos E. Antonarakis, Alexandre Reymond, Olivier Menzel, Reidunn CJ Bekkeheien, Naomi Fukai, Eileen Boye, Gyorgy Kosztolanyi, Salim Aftimos, Samuel Deutsch, Hamish S. Scott, Bjorn R. Olsen and Michel Guipponi

      Article first published online: 15 FEB 2005 | DOI: 10.1002/humu.20140

  6. Erratum

    1. Top of page
    2. Databases
    3. Rapid Communications
    4. Research Articles
    5. Methods
    6. Letters to the Editors
    7. Erratum
    8. Errata
    9. Mutations in Brief
    1. You have free access to this content
      Mutations in the MMAA Gene in Patients With the cblA Disorder of Vitamin B12 Metabolism (page 317)

      Jordan P. Lerner-Ellis, C. Melissa Dobson, Timothy Wai, David Watkins, Jamie C. Tirone, Daniel Leclerc, Carole Doré, Pierre Lepage, Roy A. Gravel and David S. Rosenblatt

      Article first published online: 14 FEB 2005 | DOI: 10.1002/humu.20149

  7. Errata

    1. Top of page
    2. Databases
    3. Rapid Communications
    4. Research Articles
    5. Methods
    6. Letters to the Editors
    7. Erratum
    8. Errata
    9. Mutations in Brief
    1. You have free access to this content
      Meta-analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage (page 318)

      Jian-Min Chen, Nadia Chuzhanova, Peter D. Stenson, Claude Férec and David N. Cooper

      Article first published online: 14 FEB 2005 | DOI: 10.1002/humu.20150

  8. Mutations in Brief

    1. Top of page
    2. Databases
    3. Rapid Communications
    4. Research Articles
    5. Methods
    6. Letters to the Editors
    7. Erratum
    8. Errata
    9. Mutations in Brief
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      Novel somatic mutations in the BRCA1 gene in sporadic breast tumors (page 319)

      Marketa Janatova, Michal Zikan, Pavel Dundr, Bohuslav Matous and Petr Pohlreich

      Article first published online: 14 FEB 2005 | DOI: 10.1002/humu.9308

    2. You have free access to this content
      Two novel mutations of the AIRE protein affecting its homodimerization properties (page 319)

      A. Meloni, E. Fiorillo, D. Corda, R. Perniola, A. Cao and M. C. Rosatelli

      Article first published online: 14 FEB 2005 | DOI: 10.1002/humu.9309

    3. You have free access to this content
      Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis (page 320)

      Michele Sbaragli, Lucia Bibi, Maria Gabriela Pittis, Chiara Balducci, Pirkko Heikinheimo, Roberta Ricci, Daniela Antuzzi, Rossella Parini, Luigina Spaccini, Bruno Bembi and Tommaso Beccari

      Article first published online: 14 FEB 2005 | DOI: 10.1002/humu.9310

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      Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: Identification of five novel ALK1 and one novel ENG mutations (page 320)

      Heidi K.A. Kuehl, Martin Caselitz, Sandra Hasenkamp, Siegfried Wagner, El-Harith A. El-Harith, Michael P. Manns and Manfred Stuhrmann

      Article first published online: 14 FEB 2005 | DOI: 10.1002/humu.9311

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      Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia (pages 320–321)

      Salma A. Abdalla, Urszula Cymerman, Diane Rushlow, Ning Chen, Gwendolyn P. Stoeber, Edmond G. Lemire and Michelle Letarte

      Article first published online: 14 FEB 2005 | DOI: 10.1002/humu.9312

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      Twelve novel JAG1 gene mutations in polish Alagille syndrome patients (page 321)

      Dorota Jurkiewicz, Ewa Popowska, Christiane Gläser, Ingo Hansmann and Małgorzata Krajewska-Walasek

      Article first published online: 14 FEB 2005 | DOI: 10.1002/humu.9313

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      Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease (pages 321–322)

      Christian A. Hübner, Ulrike Orth, Arne Senning, Cordula Steglich, Alfried Kohlschütter, Rudolf Korinthenberg and Andreas Gal

      Article first published online: 14 FEB 2005 | DOI: 10.1002/humu.9314

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      Genetic polymorphisms in the transforming growth factor beta-induced gene associated with BMI (page 322)

      Kyong Soo Park, Hyoung Doo Shin, Byung Lae Park, Hyun Sub Cheong, Young Min Choa, Hong Kyu Lee, Jong-Young Lee, Jong-Keuk Lee, Hung Tae Kim, Bok Ghee Han, Jun Woo Kim, InSong Koh, Young Jin Kim, Kuchan Kimm and Bermseok Oh

      Article first published online: 14 FEB 2005 | DOI: 10.1002/humu.9315

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      PIK3CA mutations in advanced ovarian carcinomas (page 322)

      Yun Wang, Åslaug Helland, Ruth Holm, Gunnar B. Kristensen and Anne-Lise Børresen-Dale

      Article first published online: 14 FEB 2005 | DOI: 10.1002/humu.9316

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      Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients (pages 322–323)

      L. Pastorino, R. Cusano, S. Nasti, F. Faravelli, F. Forzano, C. Baldo, M. Barile, S. Gliori, M. Muggianu, G. Ghigliotti, M.G. Lacaita, L. Lo Muzio and G. Bianchi-Scarra

      Article first published online: 14 FEB 2005 | DOI: 10.1002/humu.9317

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      P gene mutations associated with oculocutaneous albinism type II (OCA2) (page 323)

      William S. Oetting, Sarah Savage Garrett, Marcia Brott and Richard A. King

      Article first published online: 14 FEB 2005 | DOI: 10.1002/humu.9318

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      A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of α-ketoglutarate dehydrogenase deficiency (pages 323–324)

      Marie-Hélène Odièvre, Dominique Chretien, Arnold Munnich, Brian H. Robinson, Renée Dumoulin, Sahben Masmoudi, Noman Kadhom, Agnès Rötig, Pierre Rustin and Jean-Paul Bonnefont

      Article first published online: 14 FEB 2005 | DOI: 10.1002/humu.9319

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      Large genomic rearrangements in MECP2 (page 324)

      Kirstine Ravn, Jytte Bieber Nielsen, Ola Husbeth Skjeldal, Alison Kerr, Maj Hulten and Marianne Schwartz

      Article first published online: 14 FEB 2005 | DOI: 10.1002/humu.9320

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      Two independent retrotransposon insertions at the same site within the coding region of BTK (pages 324–325)

      Mary Ellen Conley, Julie D. Partain, Shannon M. Norland, Sheila A. Shurtleff and Haig H. Kazazian Jr.

      Article first published online: 14 FEB 2005 | DOI: 10.1002/humu.9321

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      Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation (page 325)

      Veronica Servedio, Maria d'Apolito, Nunzia Maiorano, Barbara Minuti, Francesca Torricelli, Flavio Ronchi, Lucia Zancan, Silverio Perrotta, Pietro Vajro, Loredana Boschetto and Achille Iolascon

      Article first published online: 14 FEB 2005 | DOI: 10.1002/humu.9322

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