Human Mutation

Copyright © 2012 Wiley Periodicals Inc.

Cover image for Human Mutation

February 2001

Volume 17, Issue 2

Pages 83–158

  1. Review Article

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Rapid Communication
    5. Research Article
    6. Methods
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. Use of mutation spectra analysis software (pages 83–102)

      Igor B. Rogozin, Fyodor A. Kondrashov and Galina V. Glazko

      Article first published online: 23 JAN 2001 | DOI: 10.1002/1098-1004(200102)17:2<83::AID-HUMU1>3.0.CO;2-E

  2. Mutation Update

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Rapid Communication
    5. Research Article
    6. Methods
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome (pages 103–116)

      Jean-Pierre Delaunoy, Fatima Abidi, Maria Zeniou, Sylvie Jacquot, Karine Merienne, Solange Pannetier, Michèle Schmitt, Charles E. Schwartz and André Hanauer

      Article first published online: 23 JAN 2001 | DOI: 10.1002/1098-1004(200102)17:2<103::AID-HUMU2>3.0.CO;2-N

  3. Rapid Communication

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Rapid Communication
    5. Research Article
    6. Methods
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. No evidence for BCL10 mutation in endometrial cancers with microsatellite instability (pages 117–121)

      David E. Cohn, David G. Mutch, Al Elbendary, Janet S. Rader, Thomas J. Herzog and Paul J. Goodfellow

      Article first published online: 23 JAN 2001 | DOI: 10.1002/1098-1004(200102)17:2<117::AID-HUMU3>3.0.CO;2-D

  4. Research Article

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Rapid Communication
    5. Research Article
    6. Methods
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria (pages 122–130)

      A.X. Acosta, W.A. Silva Jr., T.M. Carvalho, M. Gomes and M.A. Zago

      Article first published online: 23 JAN 2001 | DOI: 10.1002/1098-1004(200102)17:2<122::AID-HUMU4>3.0.CO;2-C

  5. Methods

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Rapid Communication
    5. Research Article
    6. Methods
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. A new technique for cyclic in situ amplification and a case report about amplification of a single copy gene sequence in human metaphase chromosomes through PCR-PRINS (pages 131–140)

      Thomas Harrer, Eberhard Schwinger and Kirsten Mennicke

      Article first published online: 23 JAN 2001 | DOI: 10.1002/1098-1004(200102)17:2<131::AID-HUMU5>3.0.CO;2-7

    2. Data mining: Efficiency of using sequence databases for polymorphism discovery (pages 141–150)

      David G. Cox, Catherine Boillot and Federico Canzian

      Article first published online: 23 JAN 2001 | DOI: 10.1002/1098-1004(200102)17:2<141::AID-HUMU6>3.0.CO;2-1

  6. Mutations in Brief

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Rapid Communication
    5. Research Article
    6. Methods
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. You have free access to this content
      Five novel RPGR mutations in families with X-linked retinitis pigmentosa (page 151)

      Maria Guevara-Fujita, Stacey Fahrner, Kinga Buraczynska, Jason Cook, Dianna Wheaton, Fanny Cortes, Cesar Vicencio, Marcela Pena, Gerald A. Fishman, Helen Mintz-Hittner, David Birch, Dennis Hoffman, Alan J. Mears, Ricardo Fujita and Anand Swaroop

      Article first published online: 23 JAN 2001 | DOI: 10.1002/1098-1004(200102)17:2<151::AID-HUMU7>3.0.CO;2-W

    2. You have free access to this content
      Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients (pages 151–152)

      Raymond P. Colliton, Lynn Bason, Feng-Min Lu, David A. Piccoli, Ian D. Krantz and Nancy B. Spinner

      Article first published online: 23 JAN 2001 | DOI: 10.1002/1098-1004(200102)17:2<151::AID-HUMU8>3.0.CO;2-T

    3. You have free access to this content
      A new polymorphism in the proteolipid protein (PLP1) gene and its use for carrier detection of PLP1 gene duplication in Pelizaeus-Merzbacher disease (page 152)

      Grace M. Hobson, Deborah L. Stabley, Vicky L. Funanage and Harold G. Marks

      Article first published online: 23 JAN 2001 | DOI: 10.1002/1098-1004(200102)17:2<152::AID-HUMU9>3.0.CO;2-P

    4. You have free access to this content
      Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation (pages 152–153)

      Luis M. Allende, Miguel A. García-Pérez, Angel Moreno, Alfredo Corell, Miguel Carasol, Pedro Martínez-Canut and Antonio Arnaiz-Villena

      Article first published online: 23 JAN 2001 | DOI: 10.1002/1098-1004(200102)17:2<152::AID-HUMU10>3.0.CO;2-#

  7. Mutation and Polymorphism Reports

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Rapid Communication
    5. Research Article
    6. Methods
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. A R644C mutation within lamin A extends the mutations causing dilated cardiomyopathy (page 154)

      Janine Genschel, Bettina Bochow, Susanne Kuepferling, Ralf Ewert, Roland Hetzer, Herbert Lochs and Hartmut H-J. Schmidt

      Article first published online: 23 JAN 2001 | DOI: 10.1002/1098-1004(200102)17:2<154::AID-HUMU11>3.0.CO;2-R

    2. A new mutation in the BRCA1 gene (g.5196-5201del6, 5195-5202ins12), a 6 bp deletion replaced by the duplication of a 12 bp adjacent upstream intronic sequence (page 154)

      Agnès Hardouin, Jean-Jacques Baumann, Gilbert Roussel, Véronique Quillien, Catherine Dugast and Pascaline Berthet

      Article first published online: 23 JAN 2001 | DOI: 10.1002/1098-1004(200102)17:2<154::AID-HUMU12>3.0.CO;2-O

    3. Three novel BRCA1 germline mutations (1104delAA, 1276delTT, 3747delGA) detected in breast/ovarian cancer families identified in the south of France (page 154)

      Richard Sauvan, Tetsuro Noguchi, Nathalie Moyal-Amsellem, Daniel Serin, François Eisinger, Daniel Birnbaum and Hagay Sobol

      Article first published online: 23 JAN 2001 | DOI: 10.1002/1098-1004(200102)17:2<154::AID-HUMU13>3.0.CO;2-L

    4. Three novel BRCA2 germline mutations (1864 delT, 6132 del4, 8208 del5) detected in breast cancer families identified in the south of France (page 155)

      Tetsuro Noguchi, Richard Sauvan, Nathalie Moyal-Amsellem, Léon Boubli, François Eisinger, Daniel Birnbaum and Hagay Sobol

      Article first published online: 23 JAN 2001 | DOI: 10.1002/1098-1004(200102)17:2<155::AID-HUMU14>3.0.CO;2-F

    5. A novel germline in frame deletion (4128del3) of the BRCA2 gene detected in a breast/ovarian cancer family with fallopian tube and brain tumors identified in the north of France (page 155)

      Liliane Demange, Tetsuro Noguchi, Richard Sauvan, Nathalie Moyal-Amsellem, Daniel Birnbaum, François Eisinger and Hagay Sobol

      Article first published online: 23 JAN 2001 | DOI: 10.1002/1098-1004(200102)17:2<155::AID-HUMU15>3.0.CO;2-C

    6. Identification of two novel polymorphisms (g.903C>T and g.1544C>T) in the PAX2 gene (page 155)

      Abigail C. Gelb, Glenda S. Manligas, Salam Gharaybeh and Lisa A. Schimmenti

      Article first published online: 23 JAN 2001 | DOI: 10.1002/1098-1004(200102)17:2<155::AID-HUMU16>3.0.CO;2-9

    7. A novel polymorphism (471C→T) in alpha-1-antitrypsin in a patient with asthma (pages 155–156)

      Visva Pillay, David J. Halsall, Christine Gaillard, David A. Lomas and Ravi Mahadeva

      Article first published online: 23 JAN 2001 | DOI: 10.1002/1098-1004(200102)17:2<155::AID-HUMU17>3.0.CO;2-6

    8. Three novel mutations (P760L, L1305P, Q1351Stop) causing Wilson disease (page 156)

      Janine Genschel, Anna Czlonkowska, Grit Sommer, Carsten Buettner, Bettina Bochow, Herbert Lochs and Hartmut H-J. Schmidt

      Article first published online: 23 JAN 2001 | DOI: 10.1002/1098-1004(200102)17:2<156::AID-HUMU18>3.0.CO;2-0

    9. Characterization of a new variant of α1-antitrypsin EJohannesburg (H15N) in association with asthma (page 156)

      Ravi Mahadeva, M-Christine Gaillard, Visva Pillay, Andrew Halkas and David A. Lomas

      Article first published online: 23 JAN 2001 | DOI: 10.1002/1098-1004(200102)17:2<156::AID-HUMU19>3.0.CO;2-Y

    10. A novel intronic polymorphism (intron 2 +130 (CT)n) in the human homeobox gene HOXB3 (pages 156–157)

      Susan A. Copeland-Yates and Ron C. Michaelis

      Article first published online: 23 JAN 2001 | DOI: 10.1002/1098-1004(200102)17:2<156::AID-HUMU20>3.0.CO;2-N

    11. A HEXA polymorphism (V436I) common to African-Americans and Ethiopian Jews (page 157)

      L. Peleg, M. Karpati, L. Baram, O. Zolotkovski and B. Goldman

      Article first published online: 23 JAN 2001 | DOI: 10.1002/1098-1004(200102)17:2<157::AID-HUMU21>3.0.CO;2-H

    12. A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease (page 157)

      Andrzej Kochanski, Ann Lofgren, Hanna Jedrzejowska, Barbara Ryniewicz, Malwina Czarny-Ratajczak, Anna-Maria Barciszewska, Joanna Samocko, Irena Hausmanowa-Petrusewicz, Peter De Jonghe, Vincent Timmerman and Anna Latos-Bielenska

      Article first published online: 23 JAN 2001 | DOI: 10.1002/1098-1004(200102)17:2<157::AID-HUMU22>3.0.CO;2-E

    13. Polymorphism (–173G>A) in promoter of human epithelial sodium channel gamma subunit gene (SCNN1G) and association analysis in essential hypertension (page 157)

      Brian J. Morris, Adam V. Benjafield, Kazuhiko Ishikawa and Naoharu Iawi

      Article first published online: 23 JAN 2001 | DOI: 10.1002/1098-1004(200102)17:2<157::AID-HUMU23>3.0.CO;2-B

    14. A 651-665delinsTT mutation in EXT1 causes hereditary multiple exostoses (page 158)

      Yi-Ru Shi, Jer-Yuarn Wu, Fuu-Jen Tsai, Cheng-Chun Lee and Chang-Hai Tsai

      Article first published online: 23 JAN 2001 | DOI: 10.1002/1098-1004(200102)17:2<158::AID-HUMU24>3.0.CO;2-5

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