Human Mutation

Cover image for Human Mutation

September 2002

Volume 20, Issue 3

Pages 153–237

  1. Mutation Updates

    1. Top of page
    2. Mutation Updates
    3. Database
    4. Databases
    5. Research Articles
    6. Methods
    7. Meeting Report
    8. Mutations in Brief
    1. Mutations of FBN1 and genotype–phenotype correlations in Marfan syndrome and related fibrillinopathies (pages 153–161)

      Peter N. Robinson, Patrick Booms, Stefanie Katzke, Markus Ladewig, Luitgard Neumann, Monika Palz, Reinhard Pregla, Frank Tiecke and Thomas Rosenberg

      Version of Record online: 21 AUG 2002 | DOI: 10.1002/humu.10113

  2. Database

    1. Top of page
    2. Mutation Updates
    3. Database
    4. Databases
    5. Research Articles
    6. Methods
    7. Meeting Report
    8. Mutations in Brief
    1. Data mining of public SNP databases for the selection of intragenic SNPs (pages 162–173)

      Jan Aerts, Yves Wetzels, Nadine Cohen and Jeroen Aerssens

      Version of Record online: 21 AUG 2002 | DOI: 10.1002/humu.10107

  3. Databases

    1. Top of page
    2. Mutation Updates
    3. Database
    4. Databases
    5. Research Articles
    6. Methods
    7. Meeting Report
    8. Mutations in Brief
    1. SNP databases and pharmacogenetics: great start, but a long way to go (pages 174–179)

      Sharon Marsh, Pui Kwok and Howard L. McLeod

      Version of Record online: 21 AUG 2002 | DOI: 10.1002/humu.10115

  4. Research Articles

    1. Top of page
    2. Mutation Updates
    3. Database
    4. Databases
    5. Research Articles
    6. Methods
    7. Meeting Report
    8. Mutations in Brief
    1. Mutational analysis of patients with the diagnosis of choroideremia (pages 189–196)

      Kerry E. McTaggart, Mai Tran, Dean Y. Mah, Sarah W. Lai, Nancy J. Nesslinger and Ian M. MacDonald

      Version of Record online: 21 AUG 2002 | DOI: 10.1002/humu.10114

    2. TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies (pages 197–208)

      Stefanie Katzke, Patrick Booms, Frank Tiecke, Monika Palz, Angelika Pletschacher, Seval Türkmen, Luitgard M. Neumann, Reinhard Pregla, Christa Leitner, Cornelia Schramm, Peter Lorenz, Christian Hagemeier, Josefine Fuchs, Flemming Skovby, Thomas Rosenberg and Peter N. Robinson

      Version of Record online: 21 AUG 2002 | DOI: 10.1002/humu.10112

    3. Population genetic implications from DNA polymorphism in random human genomic sequences (pages 209–217)

      Peidong Shen, Molly Buchholz, Raphael Sung, Adriane Roxas, Claudia Franco, Wei-Hsien Yang, Raja Jagadeesan, Karen Davis and Peter J. Oefner

      Version of Record online: 21 AUG 2002 | DOI: 10.1002/humu.10117

  5. Methods

    1. Top of page
    2. Mutation Updates
    3. Database
    4. Databases
    5. Research Articles
    6. Methods
    7. Meeting Report
    8. Mutations in Brief
    1. Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments (pages 218–226)

      Federica Casilli, Zorika Christiana Di Rocco, Sophie Gad, Isabelle Tournier, Dominique Stoppa-Lyonnet, Thierry Frebourg and Mario Tosi

      Version of Record online: 21 AUG 2002 | DOI: 10.1002/humu.10108

  6. Meeting Report

    1. Top of page
    2. Mutation Updates
    3. Database
    4. Databases
    5. Research Articles
    6. Methods
    7. Meeting Report
    8. Mutations in Brief
    1. You have free access to this content
  7. Mutations in Brief

    1. Top of page
    2. Mutation Updates
    3. Database
    4. Databases
    5. Research Articles
    6. Methods
    7. Meeting Report
    8. Mutations in Brief
    1. You have free access to this content
      Analysis of breast cancer susceptibility genes BRCA1 and BRCA2 in Thai familial and isolated early-onset breast and ovarian cancer (page 230)

      Pimpicha Patmasiriwat, Kris Bhothisuwan, Olga M. Sinilnikova, Sandrine Chopin, Suthida Methakijvaroon, Michael Badzioch, Puchong Padungsutt, Phantip Vattanaviboon, Vanchai Vattanasapt, Csilla Szabo, Grady F. Saunders, David Goldgar and Gilbert M. Lenoir

      Version of Record online: 21 AUG 2002 | DOI: 10.1002/humu.9049

    2. You have free access to this content
      Large Family With Maturity-Onset Diabetes of the Young and a Novel V121I Mutation in HNF4A (pages 230–231)

      Carole T. Monney, Valérie Kaltenrieder, Pascal Cousin, Christophe Bonny and Daniel F. Schorderet

      Version of Record online: 21 AUG 2002 | DOI: 10.1002/humu.9050

    3. You have free access to this content
      Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations (page 231)

      N. Venturi, A. Rovelli, R. Parini, F. Menni, F. Brambillasca, F. Bertagnolio, G. Uziel, R. Gatti, M. Filocamo, M.A. Donati, A. Biondi and S. Goldwurm

      Version of Record online: 21 AUG 2002 | DOI: 10.1002/humu.9051

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      Identification of seven novel mutations of F8C by DHPLC (pages 231–232)

      Sabrina Frusconi, Ilaria Passerini, Francesca Girolami, Maddalena Masieri, Silvia Linari, Giovanni Longo, Massimo Morfini and Francesca Torricelli

      Version of Record online: 21 AUG 2002 | DOI: 10.1002/humu.9052

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      A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients (page 232)

      Nelson L.S. Tang, W.L. Hwu, Rachel T. Chan, L.K. Law, L.M. Fung and W.M. Zhang

      Version of Record online: 21 AUG 2002 | DOI: 10.1002/humu.9053

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      Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia (pages 232–233)

      Lisa Y.S. Chan, Ching-Wan Lam, Ying-Tat Mak, Brian Tomlinson, Man-Woo Tsang, Larry Baum, John R.L. Masarei and Chi-Pui Pang

      Version of Record online: 21 AUG 2002 | DOI: 10.1002/humu.9054

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      Genetic background of Huntington disease in Croatia: Molecular analysis of CAG, CCG, and Δ2642 (E2642del) polymorphisms (page 233)

      Silva Hećimović, Nataša Klepac, Jelena Vlašić, Aleksandar Vojta, Dolores Janko, Ingrid Škarpa-Prpić, Nina Canki-Klain, Dubravko Marković, Jadranka Božikov, Maja Relja and Krešimir Pavelić

      Version of Record online: 21 AUG 2002 | DOI: 10.1002/humu.9055

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      Analysis of the PTCH coding region in human rhabdomyosarcoma (pages 233–234)

      Julia Calzada-Wack, Udo Schnitzbauer, Axel Walch, Karl-Heinz Wurster, Roland Kappler, Michaela Nathrath and Heidi Hahn

      Version of Record online: 21 AUG 2002 | DOI: 10.1002/humu.9056

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      Human piebaldism: six novel mutations of the proto-oncogene KIT (page 234)

      Petros Syrris, Kirsten Heathcote, Romeo Carrozzo, Koen Devriendt, Nursel Elçioglu, Christine Garrett, Meriel McEntagart and Nicholas D. Carter

      Version of Record online: 21 AUG 2002 | DOI: 10.1002/humu.9057

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      Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients (pages 234–235)

      Mirella Filocamo, Raffaella Mazzotti, Marina Stroppiano, Marco Seri, Fiorina Giona, Giancarlo Parenti, Stefano Regis, Fabio Corsolini, Stefania Zoboli and Rosanna Gatti

      Version of Record online: 21 AUG 2002 | DOI: 10.1002/humu.9058

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      Germline mutations of BRCA1 and BRCA2 in Korean breast and/or ovarian cancer families (page 235)

      Hio Chung Kang, Il-Jin Kim, Jae-Hyun Park, Hyuk-Jun Kwon, Yong-Jin Won, Seung Chul Heo, Sang-Yon Lee, Kyung-Hee Kim, Yong Shin, Dong Young Noh, Dae-Hyun Yang, Kuk Jin Choe, Bong Hwa Lee, Soon Beom King and Jae-Gahb Park

      Version of Record online: 21 AUG 2002 | DOI: 10.1002/humu.9059

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      Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia (pages 235–236)

      Sergio Massayuki Tani, Yue Wang, Hirokazu Kanegane, Takeshi Futatani, Jorge Pinto, Maria Marluce dos Santos Vilela and Toshio Miyawaki

      Version of Record online: 21 AUG 2002 | DOI: 10.1002/humu.9060

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      Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome (page 236)

      Annemarie H. van der Hout, Edwin Verlind, Frits A. Beemer, Charles H.C.M. Buys, Robert M.W. Hofstra and Hans Scheffer

      Version of Record online: 21 AUG 2002 | DOI: 10.1002/humu.9061

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      Prevalence of small rearrangements in the factor VIII gene F8C among patients with severe hemophilia A (pages 236–237)

      Nadja Bogdanova, Arseni Markoff, Hartmut Pollmann, Ulrike Nowak-Göttl, Roswith Eisert, Bernd Dworniczak, Antonin Eigel and Jürgen Horst

      Version of Record online: 21 AUG 2002 | DOI: 10.1002/humu.9062

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      Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis (page 237)

      Michael Kiehntopf, Jörg Schickel, Bärbel von der Gönne, Hans Georg Koch, Andrea Superti-Furga, Beat Steinmann, Thomas Deufel and Erik Harms

      Version of Record online: 21 AUG 2002 | DOI: 10.1002/humu.9063

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