22q11 deletions in isolated and syndromic patients with tetralogy of Fallot Francesca AmatiAldo MariBruno Dallapiccola Original Investigation Pages: 479 - 482
Towards fully automated genotyping: use of an X linked recessive spastic paraplegia family to test alternative analysis methods Hisashi KobayashiTara Cox MatiseEric P. Hoffman Original Investigation Pages: 483 - 490
Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD) Sandro MuntoniHeiko WiebuschGerd Assmann Original Investigation Pages: 491 - 494
Molecular analysis redefines three human chromosome 14 deletions Richard F. WintleTeresa CostaDiane W. Cox Original Investigation Pages: 495 - 500
Molecular patterns and sequence polymorphisms in the red and green visual pigment genes of Japanese men Samir S. DeebAngeles AlvarezArno G. Motulsky Original Investigation Pages: 501 - 506
Characterization of mutants of the vitamin D-binding protein/group-specific component: molecular evolution of GC*1A2 and GC*1A3, common in some Asian populations I. YuasaA. KoflerH. Cleve Original Investigation Pages: 507 - 512
Genomic organization of human complement protein C8α and further examination of its linkage to C8β Gregory A. MichelottiJames V. SniderJames M. Sodetz Original Investigation Pages: 513 - 518
Double autosomal/gonosomal mosaic aneuploidy: study of nondisjunction in two cases with trisomy of chromosome 8 Daniele DeBrasiMaurizio GenuardiGiovanni Neri Original Investigation Pages: 519 - 525
Age at diagnosis as an indicator of eligibility for BRCA1 DNA testing in familial breast cancer Antonino GiambonaPina Lo GiocoAurelio Maggio Original Investigation Pages: 526 - 530
Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype Sanjay I. BidichandaniW. George LanyonJ. Michael Connor Original Investigation Pages: 531 - 538
Age at diagnosis as an indicator of eligibility for BRCA1 DNA testing in familial breast cancer R. S. CornellsH. F. A. VasenP. Devilee Original Investigation Pages: 539 - 544
Linkage analysis of 26 Canadian breast and breast-ovarian cancer families Patricia ToninRoxanna MoslehiSteven A. Narod Original Investigation Pages: 545 - 550
Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect Hiltrud BrauchTakeshi KishidaHartmut P. H. Neumann Original Investigation Pages: 551 - 556
α-Galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins Toshika OkumiyaSatoshi IshiiYoshiyuki Suzuki Original Investigation Pages: 557 - 561
DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63) Ans M. W. van den OuwelandMieke N. van der EstDicky J. J. Halley Original Investigation Pages: 562 - 567
A molecular and cytogenetic study in Finnish Prader-Willi patients Hannaleena KokkonenMarketta KähkönenJaakko Leisti Original Investigation Pages: 568 - 571
Eleven novel mutations in the NF2 tumour suppressor gene David BournGareth EvansTom Strachan Short Communication Pages: 572 - 574
Number and sex of offspring of ΔF508 carriers outside cystic fibrosis families H. G. de VriesJ. M. ColléeL. P. Ten Kate Short Communication Pages: 575 - 576
Refinement of the locus for X-linked recessive chondrodysplasia punctata Koji MuroyaTsutomu OgataNobutake Matsuo Short Communication Pages: 577 - 580
Association between X-linked hypophosphatemic rickets and Klinefelter's syndrome: effects on growth and body proportion G. I. BaroncelliS. BertelloniG. Saggese Clinical Case Report Pages: 581 - 585
No linkage to the 3β-HSD gene cluster in a kindred affected with 3β-hydroxy-Δ5-C27steroid dehydrogenase deficiency and early onset hepatic failure Alan RussellHisham NazerRoger Sutcliffe Clinical Case Report Pages: 586 - 588
A highly informative dinucleotide repeat polymorphism at D13S201, between RB1 and WND R. F. KooyE. VerlindD. N. Shapiro OriginalPaper Pages: 589 - 589
Identification of variable length polyadenosine tract at the dystrophin locus Sylvie TufferyPhilippe MoineMireille Claustres OriginalPaper Pages: 590 - 592
Tetra-/di-nucleotide repeat polymorphism upstream of the human α2-globin gene locus at 16p13.3 Alexandros ArgyrokastritisNicholas K. Moschonas OriginalPaper Pages: 593 - 593
Intragenic TaqI restriction fragment length polymorphism (RFLP) in CICN4, between the loci for X linked ocular albinism (OA1) and microphthalmia with linear skin defects syndrome (MLS) R. E. SchnurP. A. Wick OriginalPaper Pages: 594 - 595
Characterisation of three microsatellite polymorphisms (D21S1262, D21S1419 and D21S1421) from band 21q22.1 Assumpció BoschJordi GuimeràXavier Estivill OriginalPaper Pages: 596 - 598
A new biallelic DNA polymorphism of the human COL5A1 gene Francesca CappaGianluca CaridiGian Marco Ghiggeri OriginalPaper Pages: 599 - 600
Dinucleotide repeat polymorphism at the D4S2458 locus close to the PKD2 locus on human chromosome 4q Miguel ViribayDolores TelleríaJosé L. San Millán OriginalPaper Pages: 601 - 602
A new polymorphism in the gene for the dopamine D2 receptor S. E. PodusloJ. Schwankhaus OriginalPaper Pages: 603 - 604
Polymorphisms of the Prion Protein gene in italian patients with Creutzfeldt-Jakob disease Mirella SalvatoreMaurizio GenuardiMaurizio Pocchiari Erratum Pages: 605 - 605