Genetic studies of the leptin receptor gene in morbidly obese French Caucasian families Stephan FranckeKarine ClementJ. Hager Original investigation Pages: 491 - 496
Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome N. J. LenchElizabeth A. R. TelfordBrandon J. Wainwright Original investigation Pages: 497 - 502
Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardation M. MilàAurora SànchezXavier Estivill Original investigation Pages: 503 - 507
Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations Kamiab TavassoliAntonin EigelJürgen Horst Original investigation Pages: 508 - 511
Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects E. MornetFrançoise MullerJean-Louis Serre Original Investigation Pages: 512 - 514
Isolation and characterization of new microsatellites at the nm23-H1 and nm23-H2 gene loci and application for loss of heterozygosity (LOH) analysis Markus SeifertBirgit TheisingerC. Welter Original investigation Pages: 515 - 519
Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity J. C. OosterwijkGabriela RichardGert-Jan B. van Ommen Original investigation Pages: 520 - 524
Localisation and distance between ABL and BCR genes in interphase nuclei of bone marrow cells of control donors and patients with chronic myeloid leukaemia Emílie LukášováStanislav KozubekGerda Horneck Original investigation Pages: 525 - 535
Y chromosome polymorphisms in Native American and Siberian populations: identification of Native American Y chromosome haplotypes Jeffrey T. LellMichael D. BrownD. C. Wallace Original investigation Pages: 536 - 543
A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations A. M. JouanollePatricia FergelotVéronique David Original investigation Pages: 544 - 547
Major histocompatibility complex (MHC) class III genetics in two Amerindian tribes from Southern Brazil: the Kaingang and the Guarani S. Weg-RemersM. BrendenG. Mauff Original investigation Pages: 548 - 556
A splicing mutation in RB1 in low penetrance retinoblastoma E. L. SchubertLouise C. StrongM. F. Hansen Original investigation Pages: 557 - 563
High-throughput analysis of Fragile X (CGG)n alleles in the normal and premutation range by PCR amplification and automated capillary electrophoresis L. Allan LarsenKaren GrønskovJens Vuust Original investigation Pages: 564 - 568
AFX1 and p54 nrb : fine mapping, genomic structure, and exclusion as candidate genes of X-linked dystonia parkinsonism Usha PetersGerd HaberhausenU. Müller Original investigation Pages: 569 - 572
Autosomal recessive long-QT syndrome (Jervell Lange-Nielsen syndrome) is genetically heterogeneous E. Schulze-BahrW. HaverkampH. Funke Original investigation Pages: 573 - 576
Molecular analysis of survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes of spinal muscular atrophy patients and their parents J.-G. ChangYuh-Jyh JongWen-Shin Wang Original investigation Pages: 577 - 581
Genetic variation of the 5-HT2A receptor gene and bipolar affective disorder Blanca GutiérrezJaume BertranpetitL. Fañanás Original investigation Pages: 582 - 584
A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome E. BattiloroBarbara AngelettiE. D’Ambrosio Original investigation Pages: 585 - 587
The spatial distribution of human immunoglobulin genes within the nucleus: evidence for gene topography independent of cell type and transcriptional activity L. ParreiraMargarida TelhadaMaria Carmo-Fonseca Original investigation Pages: 588 - 594
A third neurofibromatosis type 1 (NF1) pseudogene at chromosome 15q11.2 H. Kehrer-SawatzkiThomas SchwickardtWinfrid Krone Original investigation Pages: 595 - 600
Novel germline mutations in the APC gene and their phenotypic spectrum in familial adenomatous polyposis kindreds C. WalonAlex KartheuserChristine Verellen-Dumoulin Original investigation Pages: 601 - 605
Two SRY-negative XX male brothers without genital ambiguity Juan Carlos ZentenoMarisol LópezS. Kofman-Alfaro Original investigation Pages: 606 - 610
The germinal center kinase gene and a novel CDC25-like gene are located in the vicinity of the PYGM gene on 11q13 Darek KedraEyal SeroussiJ. Dumanski Original investigation Pages: 611 - 619
Another pedigree with pure autosomal dominant spastic paraplegia (AD-FSP) from Tibet mapping to 14q11.2–q24.3 Shangzhi HuangZhuyu Labu Original investigation Pages: 620 - 623
X chromosome inactivation and micronuclei in normal and Turner individuals John C. HandoJames D. TuckerJ. Nath Original investigation Pages: 624 - 628
Frequent gains on chromosome arms 1q and/or 8q in human endometrial cancer Akihiko SuzukiShinichi FukushigeA. Horii Original investigation Pages: 629 - 636
Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients Hiroyuki IkedaY. MatsubaraKuniaki Narisawa Original investigation Pages: 637 - 642
Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR S. KleinleU. WiesmannS. Liechti-Gallati Original investigation Pages: 643 - 650
Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene Neelu PuriDonna Durham-PierreM. H. Brilliant Original investigation Pages: 651 - 656
Linkage disequilibrium studies in multiple endocrine neoplasia type 1 (MEN1) The European Consortium on MEN1J. H. D. BassettP. Gaudray Original investigation Pages: 657 - 665
Expected effects of mass screening policies on the frequency of cystic fibrosis homozygotes Giorgio BertorelleG. Barbujani Rapid communication Pages: 666 - 668
A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region O. BartschGeorg K. HinkelStylianos E. Antonarakis Rapid communication Pages: 669 - 675
Different entities of proximal spinal muscular atrophy within one family B. WirthD. TessaroloK. Zerres Rapid communication Pages: 676 - 680
New p57KIP2 mutations in Beckwith-Wiedemann syndrome I. HatadaAkira NabetaniTsunehiro Mukai Rapid communication Pages: 681 - 683
Isolation by distance in Germany I. BarraiC. ScapoliA. Rodriguez-Larralde Letter to the editors Pages: 684 - 684