Human Mutation

Copyright © 2012 Wiley Periodicals Inc.

Cover image for Human Mutation

October 2000

Volume 16, Issue 4

Pages 281–376

  1. Mutation Updates

    1. Top of page
    2. Mutation Updates
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Meeting Report
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia (pages 281–296)

      Geoffrey N. Hendy, Lilia D'Souza-Li, Bing Yang, Lucie Canaff and David E.C. Cole

      Article first published online: 26 SEP 2000 | DOI: 10.1002/1098-1004(200010)16:4<281::AID-HUMU1>3.0.CO;2-A

    2. Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: Correlation of genotype to phenotype (pages 297–306)

      Ajit Kadakol, Siddhartha S. Ghosh, Baljit S. Sappal, Girish Sharma, Jayanta Roy Chowdhury and Namita Roy Chowdhury

      Article first published online: 26 SEP 2000 | DOI: 10.1002/1098-1004(200010)16:4<297::AID-HUMU2>3.0.CO;2-Z

  2. Rapid Communication

    1. Top of page
    2. Mutation Updates
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Meeting Report
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families (pages 307–314)

      Laura Huopaniemi, Henna Tyynismaa, Anne Rantala, Thomas Rosenberg and Tiina Alitalo

      Article first published online: 26 SEP 2000 | DOI: 10.1002/1098-1004(200010)16:4<307::AID-HUMU3>3.0.CO;2-L

  3. Research Articles

    1. Top of page
    2. Mutation Updates
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Meeting Report
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes (pages 315–322)

      Alessandra Splendore, Elias O. Silva, Luís G. Alonso, Antônio Richieri-Costa, Nivaldo Alonso, Alberto Rosa, Gerson Carakushanky, Denise P. Cavalcanti, Décio Brunoni and Maria Rita Passos-Bueno

      Article first published online: 26 SEP 2000 | DOI: 10.1002/1098-1004(200010)16:4<315::AID-HUMU4>3.0.CO;2-H

    2. Diverse deletions in the growth hormone receptor gene cause growth hormone insensitivity syndrome (pages 323–333)

      Julie M. Gastier, Mary Anne Berg, Per Vesterhus, Edward O. Reiter and Uta Francke

      Article first published online: 26 SEP 2000 | DOI: 10.1002/1098-1004(200010)16:4<323::AID-HUMU5>3.0.CO;2-D

  4. Methods

    1. Top of page
    2. Mutation Updates
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Meeting Report
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. Direct genomic multiplex PCR for BRCA1 and application to mutation detection by single-strand conformation and heteroduplex analysis (pages 334–344)

      David F. Barker

      Article first published online: 26 SEP 2000 | DOI: 10.1002/1098-1004(200010)16:4<334::AID-HUMU6>3.0.CO;2-6

    2. Identification of specific BRCA1 and BRCA2 variants by DHPLC (pages 345–353)

      Eva Gross, Norbert Arnold, Katharina Pfeifer, Katrin Bandick and Marion Kiechle

      Article first published online: 26 SEP 2000 | DOI: 10.1002/1098-1004(200010)16:4<345::AID-HUMU7>3.0.CO;2-#

    3. Oligonucleotide microarray based detection of repetitive sequence changes (pages 354–363)

      Joseph G. Hacia, Keith Edgemon, Nicole Fang, R. Aeryn Mayer, Dominick Sudano, Nathaniel Hunt and Francis S. Collins

      Article first published online: 26 SEP 2000 | DOI: 10.1002/1098-1004(200010)16:4<354::AID-HUMU8>3.0.CO;2-V

  5. Meeting Report

    1. Top of page
    2. Mutation Updates
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Meeting Report
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. DNA 2000: International Symposium on the State-of-the-Art in Genetic Analysis, June 1–3, 2000, Boston, U.S.A. (pages 364–370)

      Paula J. Bray and Mark H. Paalman

      Article first published online: 26 SEP 2000 | DOI: 10.1002/1098-1004(200010)16:4<364::AID-HUMU9>3.0.CO;2-P

  6. Mutations in Brief

    1. Top of page
    2. Mutation Updates
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Meeting Report
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. You have free access to this content
      Allelic imbalance of BRCA1 transcript in the IVS20 12-bp insertion carrier (page 371)

      Piotr Kozlowski, Krzysztof Sobczak, Anna Jasinska and Wlodzimierz J. Krzyzosiak

      Article first published online: 26 SEP 2000 | DOI: 10.1002/1098-1004(200010)16:4<371::AID-HUMU10>3.0.CO;2-S

    2. You have free access to this content
      Factor IX mutations in South Africans and African Americans are compatible with primarily endogenous influences upon recent germline mutations (page 371)

      Xuemin Li, Joni B. Drost, Stacy Roberts, Carol Kasper and Steve S. Sommer

      Article first published online: 26 SEP 2000 | DOI: 10.1002/1098-1004(200010)16:4<371::AID-HUMU11>3.0.CO;2-P

    3. You have free access to this content
      Homocystinuria in the Arab population of Israel: Identification of two novel mutations using DGGE analysis (page 372)

      Galia Gat-Yablonski, Hanna Mandel, Brian Fowler, Omar Taleb and Ben-Ami Sela

      Article first published online: 26 SEP 2000 | DOI: 10.1002/1098-1004(200010)16:4<372::AID-HUMU12>3.0.CO;2-J

    4. You have free access to this content
      Molecular anatomy of CTG expansion in myotonin protein kinase gene among myotonic dystrophy patients from eastern India (page 372)

      Priyadarshi Basu, Prasanta K. Gangopadhaya, Subhas C. Mukherjee, Shyamal K. Das, Krishna K. Sinha and Nitai P. Bhattacharyya

      Article first published online: 26 SEP 2000 | DOI: 10.1002/1098-1004(200010)16:4<372::AID-HUMU13>3.0.CO;2-G

    5. You have free access to this content
      Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M) (page 373)

      Adriana De Siervi, Débora E. Weiss Cádiz, Victoria E. Parera, Alcira M. del C. Batlle and Maria Victoria Rossetti

      Article first published online: 26 SEP 2000 | DOI: 10.1002/1098-1004(200010)16:4<373::AID-HUMU14>3.0.CO;2-A

  7. Mutation and Polymorphism Reports

    1. Top of page
    2. Mutation Updates
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Meeting Report
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1 —A challenging problem (page 374)

      Melanie A. Knight, Elsdon Storey, R.J. McKinlay Gardner, Peter Hand and Susan M. Forrest

      Article first published online: 26 SEP 2000 | DOI: 10.1002/1098-1004(200010)16:4<374::AID-HUMU15>3.0.CO;2-4

    2. Homozygous familial hypercholesterolemia: A novel point mutation (W556R) in a Turkish patient (page 374)

      Gertha Gutierrez, Andrea Schneider, Jared Jobs, Hartmut Schmidt, Andrea Korte, Michael P. Manns and Manfred Stuhrmann

      Article first published online: 26 SEP 2000 | DOI: 10.1002/1098-1004(200010)16:4<374::AID-HUMU16>3.0.CO;2-1

    3. Five novel genetic variants in the promoter and coding region of the αB-crystallin gene (CRYAB): –652G>A, –650C>G, –249G>C, S41Y, P51L (page 374)

      Axel Hahner, Jeanette Erdmann, Heike Kallisch, Eckart Fleck and Vera Regitz-Zagrosek

      Article first published online: 26 SEP 2000 | DOI: 10.1002/1098-1004(200010)16:4<374::AID-HUMU17>3.0.CO;2-Z

    4. Two novel serine repeat length polymorphisms (1043insS and 1043inssS) at exon 23 of the TSC1 gene (page 375)

      Judy R. Pipo, Toshiyuki Yamamoto, Hiromasa Takeda, Shinji Maegawa, Eiji Nanba, Haruaki Ninomiya, Kousaku Ohno and Kenzo Takeshita

      Article first published online: 26 SEP 2000 | DOI: 10.1002/1098-1004(200010)16:4<375::AID-HUMU18>3.0.CO;2-T

    5. A novel mutation (1653insC) in the thyroid hormone receptor beta in a patient resistant to thyroid hormone (page 375)

      Ytje Y. van der Hoek, M.W.f. Mul-Steinbusch and P.H.Th.J. Slee

      Article first published online: 26 SEP 2000 | DOI: 10.1002/1098-1004(200010)16:4<375::AID-HUMU19>3.0.CO;2-Q

    6. Novel single nucleotide polymorphisms (3203A>G and 3204C>T) in the 3′ end of the mitochondrial 16S rRNA gene (page 375)

      Tao Yang, Ching-Wan Lam, Man-Wo Tsang, Sui-Fan Tong, Lisa Y.S. Chan, Grace Y.W. Kam, Priscilla M.K. Poon, Xiang-Qian Wu and Chi-Pui Pang

      Article first published online: 26 SEP 2000 | DOI: 10.1002/1098-1004(200010)16:4<375::AID-HUMU20>3.0.CO;2-F

    7. Metachromatic leukodystrophy: A novel mutation (c237delC) and extension of the haplotype associated with the P426L mutation (pages 375–376)

      Laura Gort, M. Josep Coll and Amparo Chabás

      Article first published online: 26 SEP 2000 | DOI: 10.1002/1098-1004(200010)16:4<375::AID-HUMU21>3.0.CO;2-C

    8. Identification of a novel polymorphism (IVS45+20 C/A) in the splice site of intron 45 of the ryanodine receptor gene (RYR1) (page 376)

      H. Rueffert, D. Olthoff, C. Deutrich, H. Kraus and U.G. Froster

      Article first published online: 26 SEP 2000 | DOI: 10.1002/1098-1004(200010)16:4<376::AID-HUMU22>3.0.CO;2-6

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