Markers for the gene ob and serum leptin levels in human morbid obesity Laura OksanenMiina ÖhmanK. Kontula Original investigation Pages: 559 - 564
Possible association of the allele status of the CS.7/HhaI polymorphism 5′ of the CFTR gene with postnatal female survival M. Macek Jr.Milan Macek Sr.J. Schmidke Original investigation Pages: 565 - 572
Dinucleotide repeat in the 3′ flanking region provides a clue to the molecular evolution of the Duffy gene Jianping LiSadahiko IwamotoE. Kajii Original investigation Pages: 573 - 577
The gene for microfibril-associated protein-1 (MFAP1) is located several megabases centromeric to FBN1 and is not mutated in Marfan syndrome Wanguo LiuJuliette FaracoU. Francke Original investigation Pages: 578 - 584
Exclusion of ZFM1 as a candidate gene for multiple endocrine neoplasia type 1 (MEN1) S. E. LloydJ. T. PangR. V. Thakker Original investigation Pages: 585 - 589
Alternative splicing of hMSH2 in normal human tissues Yuriko MoriHiromi ShiwakuA. Horii Original investigation Pages: 590 - 595
Comparative genomic hybridization reveals a partial de novo trisomy 6q23-qter in an infant with congenital malformations: delineation of the phenotype M. ErdelHans-Christoph DubaGerd Utermann Original investigation Pages: 596 - 601
Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome Marco TartagliaSonia ValeriP. A. Battaglia Original investigation Pages: 602 - 606
The pathogenicity of the Pro1148Ala substitution in the FBN1 gene: causing or predisposing to Marfan syndrome and aortic aneurysm, or clinically innocent? Iris SchrijverWanguo LiuU. Francke Original investigation Pages: 607 - 611
Identification of novel mutations in the human EXT1 tumor suppressor gene D. E. WellsA. HillM. J. Wagner Original investigation Pages: 612 - 615
Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3 H. S. ScottHaiming ChenStylianos E. Antonarakis Original investigation Pages: 616 - 623
Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome Shigeaki NonoyamaMitsunobu ShimadzuHans D. Ochs Original investigation Pages: 624 - 627
Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: mutation detection methods and utilization J. M. PuckLindsay MiddeltonAmy E. Pepper Original investigation Pages: 628 - 633
Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus D. M. FathallahMohamed BejaouiKoussay Dellagi Original investigation Pages: 634 - 637
The tricho-rhino-phalangeal syndromes: frequency and parental origin of 8q deletions Judith NardmannLisbeth TranebjærgH.-J. Lüdecke Original investigation Pages: 638 - 643
New amino acid polymorphism, Ala/Val4058, in exon 45 of the polycystic kidney disease 1 gene: evolution of alleles Rolandos ConstantinidesStavroulla XenophontosC. Constantinou Deltas Original investigation Pages: 644 - 647
Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype R. VeitiaA. IonK. McElreavey Original investigation Pages: 648 - 652
Identification of a modifier gene locus on chromosome 1p35-36 in familial adenomatous polyposis Zuzana DobbieKarl HeinimannR. J. Scott Original investigation Pages: 653 - 657
A small intraexonic deletion within the dystrophin gene suggests a possible mechanism of mutagenesis D. O. RobinsonDavid J. BunyanShu C. Yau Original investigation Pages: 658 - 662
Lack of association between five polymorphisms in the human glucocorticoid receptor gene and glucocorticoid resistance J. W. KoperRonald P. StolkSteven W. J. Lamberts Original investigation Pages: 663 - 668
Hb Lepore-Baltimore (δ68Leu-β84Thr) and Hb Lepore-Washington-Boston (δ87Gln-βIVS-II-8) in Central Portugal and Spanish Alta Extremadura M. L. RibeiroE. CunhaT. H. J. Huisman Original investigation Pages: 669 - 673
Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene Julie MaynardMichael KrawczakM. Upadhyaya Original investigation Pages: 674 - 676
B-cell-negative severe combined immunodeficiency associated with a common γ chain mutation Alison M. JonesPaula A. ClarkC. Kinnon Original investigation Pages: 677 - 680
Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q D. F. BarkerJoyce C. DenisonMartin C. Gregory Original investigation Pages: 681 - 684
Refinement of the hereditary neuralgic amyotrophy (HNA) locus to chromosome 17q24–q25 F. StögbauerPeter YoungGerd Kurlemann Rapid communication Pages: 685 - 687
Polymorphisms in the PMP-22 gene region (17p11.2–12) are crucial for simplified diagnosis of duplications/deletions A. HauptLudger SchölsJörg T. Epplen Rapid communication Pages: 688 - 691
Identification of an HD patient with a (CAG)180 repeat expansion and the propagation of highly expanded CAG repeats in lambda phage Kirupa SathasivamIheoma AmaechiG. Bates Rapid communication Pages: 692 - 695
Mermaid: a not-so-new family of human repetitive elements Wojciech Makałowski Letter to the editors Pages: 696 - 697