Mapping of a gene for May-Hegglin anomaly to chromosome 22q S. KunishimaT. KojimaH. Saito Original Investigation Pages: 379 - 383
Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region N.S. ThomasC.E. BrowneJ.A. Crolla Original Investigation Pages: 384 - 387
The identical 5' splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect L. SpirioJ. GreenM. Leppert Original Investigation Pages: 388 - 398
A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y H. ChenC. RossierS.E. Antonarakis Original Investigation Pages: 399 - 409
Genomic organisation of the spinocerebellar ataxia type 7 (SCA7) gene responsible for autosomal dominant cerebellar ataxia with retinal degeneration A. MichalíkJ. Del-FaveroC. Van Broeckhoven Original Investigation Pages: 410 - 417
Genetic variation at the matrix metalloproteinase-9 locus on chromosome 20q12.2–13.1 B. ZhangA. HenneyS. Ye Original Investigation Pages: 418 - 423
Haplosufficiency of the melanocortin-4 receptor gene in individuals with deletions of 18q J.D. CodyX.T. RevelesR.J. Leach Original Investigation Pages: 424 - 427
Analysis of segregation and aneuploidy in two reciprocal translocation carriers, t(3;9)(q26.2;q32) and t(3;9)(p25;q32), by triple-color fluorescence in situ hybridization H. HondaN. MiharuK. Ohama Original Investigation Pages: 428 - 436
Missense mutations in hMLH1 associated with colorectal cancer T. LiuP. TannergårdA. Lindblom Original Investigation Pages: 437 - 441
Absence of the Δccr5 mutation in indigenous populations of the Brazilian Amazon A.P.M. LebouteM.W.P. de CarvalhoA.L. Simões Original Investigation Pages: 442 - 443
Detection of DNA copy number changes in human endometriosis by comparative genomic hybridization J. GogusevJ.B. de JolinièreM. Levardon Original Investigation Pages: 444 - 451
Complex patterns of intragenic polymorphism at the PDGFA locus D.T. BonthronS.J. L. SmithR. Campbell Original Investigation Pages: 452 - 459
Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH oxidase D. NoackJ. RaeP.G. Heyworth Original Investigation Pages: 460 - 467
Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation J. MallolasM. Antònia VilasecaM. Milà Original Investigation Pages: 468 - 473
Alström syndrome: further evidence for linkage to human chromosome 2p13 G.B. CollinJ.D. MarshallP.M. Nishina Original Investigation Pages: 474 - 479
Preimplantation diagnosis of the β1 integrin knockout mutation as a model for aneuploid gene testing H.-S. KimI.V. KlimanskayaR.V. Lebo Original Investigation Pages: 480 - 488
Structure of the human Lanosterol Synthase gene and its analysis as a candidate for holoprosencephaly (HPE1) E. RoesslerL. MittazS.E. Antonarakis Original Investigation Pages: 489 - 495
Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia H. MatssonJ. KlarN. Dahl Original Investigation Pages: 496 - 500
SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients L. YinV. FerrandG. Romeo Original Investigation Pages: 501 - 505
Identification, mapping, and genomic structure of a novel X-chromosomal human gene (SMPX) encoding a small muscular protein D. PatzakO. ZhuchenkoM. Wehnert Original Investigation Pages: 506 - 512
Haplotype-matched controls as a tool to discriminate polymorphisms from pathogenic mutations in mtDNA M.S. LehtonenM. MeiniläK. Majamaa Short Report Pages: 513 - 514
Type-1c glycogen storage disease is not caused by mutations in the glucose-6-phosphate transporter gene B. LinH. HiraiwaJ.Y. Chou Short Report Pages: 515 - 517
