• Issue
    2000
    281-376
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Mutation Update
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Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia

Geoffrey N. Hendy,  Lilia D'Souza-Li,  Bing Yang,  Lucie Canaff,  David E.C. Cole, 
  • Pages: 281-296
  • First Published: 26 September 2000
Mutation Update
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Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: Correlation of genotype to phenotype

Ajit Kadakol,  Siddhartha S. Ghosh,  Baljit S. Sappal,  Girish Sharma,  Jayanta Roy Chowdhury,  Namita Roy Chowdhury, 
  • Pages: 297-306
  • First Published: 26 September 2000

Rapid Communication
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Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families

Laura Huopaniemi,  Henna Tyynismaa,  Anne Rantala,  Thomas Rosenberg,  Tiina Alitalo, 
  • Pages: 307-314
  • First Published: 26 September 2000

Research Article
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High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes

Alessandra Splendore,  Elias O. Silva,  Luís G. Alonso,  Antônio Richieri-Costa,  Nivaldo Alonso,  Alberto Rosa,  Gerson Carakushanky,  Denise P. Cavalcanti,  Décio Brunoni,  Maria Rita Passos-Bueno, 
  • Pages: 315-322
  • First Published: 26 September 2000
Research Article
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Diverse deletions in the growth hormone receptor gene cause growth hormone insensitivity syndrome

Julie M. Gastier,  Mary Anne Berg,  Per Vesterhus,  Edward O. Reiter,  Uta Francke, 
  • Pages: 323-333
  • First Published: 26 September 2000

Methods
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Direct genomic multiplex PCR for BRCA1 and application to mutation detection by single-strand conformation and heteroduplex analysis

David F. Barker, 
  • Pages: 334-344
  • First Published: 26 September 2000
Methods
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Identification of specific BRCA1 and BRCA2 variants by DHPLC

Eva Gross,  Norbert Arnold,  Katharina Pfeifer,  Katrin Bandick,  Marion Kiechle, 
  • Pages: 345-353
  • First Published: 26 September 2000
Methods
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Oligonucleotide microarray based detection of repetitive sequence changes

Joseph G. Hacia,  Keith Edgemon,  Nicole Fang,  R. Aeryn Mayer,  Dominick Sudano,  Nathaniel Hunt,  Francis S. Collins, 
  • Pages: 354-363
  • First Published: 26 September 2000

Meeting Report
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DNA 2000: International Symposium on the State-of-the-Art in Genetic Analysis, June 1–3, 2000, Boston, U.S.A.

Paula J. Bray,  Mark H. Paalman, 
  • Pages: 364-370
  • First Published: 26 September 2000

Mutation in Brief
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Allelic imbalance of BRCA1 transcript in the IVS20 12-bp insertion carrier

Piotr Kozlowski,  Krzysztof Sobczak,  Anna Jasinska,  Wlodzimierz J. Krzyzosiak, 
  • Page: 371
  • First Published: 26 September 2000
Mutation in Brief
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Factor IX mutations in South Africans and African Americans are compatible with primarily endogenous influences upon recent germline mutations

Xuemin Li,  Joni B. Drost,  Stacy Roberts,  Carol Kasper,  Steve S. Sommer, 
  • Page: 371
  • First Published: 26 September 2000
Mutation in Brief
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Homocystinuria in the Arab population of Israel: Identification of two novel mutations using DGGE analysis

Galia Gat-Yablonski,  Hanna Mandel,  Brian Fowler,  Omar Taleb,  Ben-Ami Sela, 
  • Page: 372
  • First Published: 26 September 2000
Mutation in Brief
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Molecular anatomy of CTG expansion in myotonin protein kinase gene among myotonic dystrophy patients from eastern India

Priyadarshi Basu,  Prasanta K. Gangopadhaya,  Subhas C. Mukherjee,  Shyamal K. Das,  Krishna K. Sinha,  Nitai P. Bhattacharyya, 
  • Page: 372
  • First Published: 26 September 2000
Mutation in Brief
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Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M)

Adriana De Siervi,  Débora E. Weiss Cádiz,  Victoria E. Parera,  Alcira M. del C. Batlle,  Maria Victoria Rossetti, 
  • Page: 373
  • First Published: 26 September 2000

Mutation and Polymorphism Report
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Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1 —A challenging problem †

Melanie A. Knight,  Elsdon Storey,  R.J. McKinlay Gardner,  Peter Hand,  Susan M. Forrest, 
  • Page: 374
  • First Published: 26 September 2000
Mutation and Polymorphism Report
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Homozygous familial hypercholesterolemia: A novel point mutation (W556R) in a Turkish patient †

Gertha Gutierrez,  Andrea Schneider,  Jared Jobs,  Hartmut Schmidt,  Andrea Korte,  Michael P. Manns,  Manfred Stuhrmann, 
  • Page: 374
  • First Published: 26 September 2000
Mutation and Polymorphism Report
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Five novel genetic variants in the promoter and coding region of the αB-crystallin gene (CRYAB): –652G>A, –650C>G, –249G>C, S41Y, P51L †

Axel Hahner,  Jeanette Erdmann,  Heike Kallisch,  Eckart Fleck,  Vera Regitz-Zagrosek, 
  • Page: 374
  • First Published: 26 September 2000
Mutation and Polymorphism Report
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Two novel serine repeat length polymorphisms (1043insS and 1043inssS) at exon 23 of the TSC1 gene †

Judy R. Pipo,  Toshiyuki Yamamoto,  Hiromasa Takeda,  Shinji Maegawa,  Eiji Nanba,  Haruaki Ninomiya,  Kousaku Ohno,  Kenzo Takeshita, 
  • Page: 375
  • First Published: 26 September 2000
Mutation and Polymorphism Report
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A novel mutation (1653insC) in the thyroid hormone receptor beta in a patient resistant to thyroid hormone

Ytje Y. van der Hoek,  M.W.f. Mul-Steinbusch,  P.H.Th.J. Slee, 
  • Page: 375
  • First Published: 26 September 2000
Mutation and Polymorphism Report
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Novel single nucleotide polymorphisms (3203A>G and 3204C>T) in the 3′ end of the mitochondrial 16S rRNA gene †

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,  Chi-Pui Pang, 
  • Page: 375
  • First Published: 26 September 2000
Mutation and Polymorphism Report
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Metachromatic leukodystrophy: A novel mutation (c237delC) and extension of the haplotype associated with the P426L mutation †

Laura Gort,  M. Josep Coll,  Amparo Chabás, 
  • Pages: 375-376
  • First Published: 26 September 2000
Mutation and Polymorphism Report
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Identification of a novel polymorphism (IVS45+20 C/A) in the splice site of intron 45 of the ryanodine receptor gene (RYR1)

H. Rueffert,  D. Olthoff,  C. Deutrich,  H. Kraus,  U.G. Froster, 
  • Page: 376
  • First Published: 26 September 2000