Genetic basis of acanthosis nigricans in Mexican Americans and its association with phenotypes related to type 2 diabetes James P. BurkeRavindranath DuggiralaMichael P. Stern Original Investigation 20 April 2000 Pages: 467 - 472
Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency Fuminari IshibashiHiroyuki NunoiShiro Kanegasaki Original Investigation 10 May 2000 Pages: 473 - 481
The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody disease Alex OdermattKimby BartonDavid H. MacLennan Original Investigation 10 May 2000 Pages: 482 - 491
Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies Yuriy O. ShevchenkoJohn G. ComptonSherri J. Bale Original Investigation 06 May 2000 Pages: 492 - 499
Interchromosomal effects for chromosome 21 in carriers of structural chromosome reorganizations determined by fluorescence in situ hybridization on sperm nuclei Joan BlancoJosep EgozcueFrancesca Vidal Original Investigation 19 April 2000 Pages: 500 - 505
Fine mapping of the constitutional translocation t(11;22)(q23;q11) Isabel Tapia-PáezKevin P. O'BrienJan P. Dumanski Original Investigation 20 April 2000 Pages: 506 - 516
Is there an interchromosomal effect in reciprocal translocation carriers? Sperm FISH studies Anna M. EstopKathy CieplyEleanor Feingold Original Investigation 18 April 2000 Pages: 517 - 524
Variation in alphoid DNA size and trisomy 21: a possible cause of nondisjunction Klio MaratouYasmeen SiddiqueGail E. Davies Original Investigation 11 April 2000 Pages: 525 - 530
A 5-base insertion in the γC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract Zhaoxia RenAnren LiJ. Fielding Hejtmancik Original Investigation 14 April 2000 Pages: 531 - 537
Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic Timo ImbachStephanie GrünewaldThierry Hennet Original Investigation 19 April 2000 Pages: 538 - 545
Association of the low-density lipoprotein receptor gene with obesity in Native American populations Vanessa S. MatteviCarlos E. A. Coimbra JrMara H. Hutz Original Investigation 10 May 2000 Pages: 546 - 552
A genetic study of Hodgkin's lymphoma: an estimate of heritability and anticipation based on the familial cancer database in Sweden Yin Yao ShugartKari HemminkiChuanhui Dong Original Investigation 13 April 2000 Pages: 553 - 556
Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13 Michael J. KelleyWilliam JawienJeannette F. Korczak Original Investigation 14 April 2000 Pages: 557 - 564
Analysis of genetic polymorphisms in the transforming growth factor-β1 gene and the risk of Alzheimer's disease Erin K. LuedeckingSteven T. DeKoskyM. Ilyas Kamboh Original Investigation 10 May 2000 Pages: 565 - 569
Erratum to Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families Yuichi MiuraSek MardyYasuhiro Indo Erratum 03 May 2000 Pages: 575 - 575