Genetic deficiencies of the glycogen phosphorylase system Jan HendrickxPatrick J. Willems Review Article Pages: 551 - 556
A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family Ken TanigawaMorad BensidhoumCécile Ged Original Investigation Pages: 557 - 560
Assignment of the human ST2 gene to chromosome 2 at q11.2 Shin-ichi TominagaJohji InazawaShoji Tsuji Original Investigation Pages: 561 - 563
Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype: A clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner somatic stigmata Tomonobu HasegawaTsutomu OgataNobutake Matsuo Original Investigation Pages: 564 - 567
Tetrasomy 18p de novo: Identification by FISH with conventional and microdissection probes and analysis of parental origin and formation by short sequence repeat typing Thomas EggermannHartmut EngelsSabine Stengel-Rutkowski Original Investigation Pages: 568 - 572
Differential underacetylation of histones H2A, H3 and H4 on the inactive X chromosome in human female cells Nikolai D. BelyaevAnn M. KeohaneBryan M. Turner Original Investigation Pages: 573 - 578
Attenuated familial adenomatous polyposis due to a mutation in the 3′ part of the APC gene. A clue for understanding the function of the APC protein W. FriedlS. MeuschelS. Krieger Original Investigation Pages: 579 - 584
Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg→Cys mutation in the β-myosin heavy chain gene: Coexistence of sudden death and end-stage heart failure Y. L. KoJ. J. ChenC. C. Liew Original Investigation Pages: 585 - 590
Reevaluation of the exact CAG repeat length in hereditary cerebellar ataxias using highly denaturing conditions and long PCR H. MaruyamaKawakamiS. Nakamura Original Investigation Pages: 591 - 595
SRY-negative true hermaphrodites and an XX male in two generations of the same family Ester S. RamosCarlos A. Moreira-FilhoLucia Martelli Original Investigation Pages: 596 - 598
Fanconi anaemia in Italy: High prevalence of complementation group A in two geographic clusters Anna SavoiaAdriana ZatteralHans Joenje Original Investigation Pages: 599 - 603
Generation of sequence-tagged sites from Xp22.3 by isolating commonAlu-PCR products of radiation hybrids retaining overlapping human X chromosome fragments I. A. GlassM. PassageL. J. Shapiro Original Investigation Pages: 604 - 610
A novel polymorphism in the coding region of CYBB, the human gp91-phox gene Futoshi KuribayashiMartin de BoerDirk Roos Original Investigation Pages: 611 - 613
Systematic screening for mutations in the human serotonin-2A (5-HT2A) receptor gene: Identification of two naturally occurring receptor variants and association analysis in schizophrenia Jeanette ErdmannDaphne Shimron-AbarbanellMarkus M. Nöthen Original Investigation Pages: 614 - 619
The human lanosterol synthase gene maps to chromosome 21q22.3 Michele YoungHaiming ChenStylianos E. Antonarakis Original Investigation Pages: 620 - 624
Characterization of the human p57KIP2 gene: Alternative splicing, insertion/deletion polymorphisms in VNTR sequences in the coding region, and mutational analysis Takashi TokinoTsutomu UranoYusuke Nakamura Original Investigation Pages: 625 - 631
Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas Lucia Rosaria De VitisAndrea TeddeLaura Papi Original Investigation Pages: 632 - 637
Analysis of the neurofibromatosis type 2 gene in different human tumors of neuroectodermal origin Lucia Rosaria De VitisAndrea TeddeLaura Papi Original Investigation Pages: 638 - 641
Duplication of thePMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy Benjamin B. RoaFrank GreenbergR. Ellen Magenis Original Investigation Pages: 642 - 649
Distribution of mosaicism in human placentae Karen G. HendersonTracey E. ShawR. Douglas Wilson Original Investigation Pages: 650 - 654
Human chromosome 1 localization of the gene for a prostaglandin F2α, receptor negative regulatory protein David O. OrlickyRebecca BerryJames M. Sikela Original Investigation Pages: 655 - 658
Cartographic study: Breakpoints in 1574 families carrying human reciprocal translocations Olivier CohenChristine CansMartine Cuillel Original Investigation Pages: 659 - 667
An additional allelic variant of the CYP2D6 gene causing impaired metabolism of sparteine D. MarezM. LegrandF. Broly Original Investigation Pages: 668 - 670
Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): Genetic analysis of three unrelated SCA2 families Agnès LezinJenny MartialHervé Chneiweiss Original Investigation Pages: 671 - 676
Genotypes with the apolipoprotein ε4 allele are predictors of coronary heart disease mortality in a longitudinal study of elderly Finnish men Jari H. StengårdJuha PekkanenCharles F. Sing Original Investigation Pages: 677 - 684
A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe, de novo Charcot-Marie-Tooth disease Ruth NavonBeth SeifriedMenachem Sadeh Original Investigation Pages: 685 - 687
A novel sequence polymorphism in the promoter region of the human B2-bradykinin receptor gene A. BraunE. MaierB. Müller Rapid Communication Pages: 688 - 689
Mapping of the variegate porphyria (VP) gene: Contradictory evidence for linkage between VP and microsatellite markers at chromosome 14q32 Louise WarnichPeter N. MeissnerAndries E. Retief Rapid Communication Pages: 690 - 692
A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy Takeshi YamadaTakuro Kobayashi Rapid Communication Pages: 693 - 694
New allele variants of the immunoglobulin switch (Sα) regions Genoveva KeyeuxJ. E. Bernal DNA Variants Pages: 695 - 696
A newXmnI polymorphism in the regulatory region of the corticotropin releasing hormone gene Christoph G. O. BaerwaldGabriel S. PanayiJerry S. Lanchbury DNA Variants Pages: 697 - 698
Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy Benjamin B. RoaFrank GreenbergJ. R. Lupski Original investigation Pages: 642 - 649
A new XmnI polymorphism in the regulatory region of the corticotropin releasing hormone gene Christoph G. O. BaerwaldGabriel S. PanayiJ. S. Lanchbury DNA variants Pages: 697 - 698