Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3 S. Brian PotterfMinao FurumuraWilliam J. Pavan Rapid Communication Pages: 1 - 6
Refined localization and two additional linked families for the DFNA10 locus for nonsyndromic hearing impairment Kristien VerhoevenToril FagerheimGuy Van Camp Original Investigation Pages: 7 - 11
Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community Anthi DrousiotouGoula StylianidouAnthony H. Fensom Original Investigation Pages: 12 - 17
Familial typical migraine: significant linkage and localization of a gene to Xq24–28 Dale R. NyholtRobert P. CurtainLyn R. Griffiths Original Investigation Pages: 18 - 23
Effect of nonsense mutations on PTEN mRNA stability Anthony M. RaizisMartin M. FergusonPeter M. George Original Investigation Pages: 24 - 27
Female fetal cells in maternal blood: use of DNA polymorphisms to prove origin Osamu SamuraBarbara PertlDiana W. Bianchi Original Investigation Pages: 28 - 32
Hypermethylation of the neurofibromatosis type 1 (NF1) gene promoter is not a common event in the inactivation of the NF1 gene in NF1-specific tumours Martin P. HoranDavid N. CooperMeena Upadhyaya Original Investigation Pages: 33 - 39
Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect Carol J. GallioneErin A. ScheesseleDouglas A. Marchuk Original Investigation Pages: 40 - 44
MtDNA substitution rate and segregation of heteroplasmy in coding and noncoding regions Lucia CavelierElena JazinUlf Gyllensten Original Investigation Pages: 45 - 50
Multiplex FISH telomere integrity assay identifies an unbalanced cryptic translocation der(5)t(3;5)(q27;p15.3) in a family with three mentally retarded individuals Martin GranzowSusanne PoppAnna Jauch Original Investigation Pages: 51 - 57
Relationship between E-selectin L/F554 polymorphism and blood pressure in the Stanislas cohort Catherine SassCeline PallaudSophie Visvikis Original Investigation Pages: 58 - 61
Microscopic assessment of pronuclear embryos is not definitive Alvin Soon Tiong LimVictor Hng Hang GohSu Ling Yu Original Investigation Pages: 62 - 68
Characterization and localization of human COX17, a gene involved in mitochondrial copper transport Fiona A. PunterDenise L. AdamsD. Moira Glerum Original investigation Pages: 69 - 74
Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy Radha AyyagariLaura E. KakukPaul A. Sieving Original Investigation Pages: 75 - 82
An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family Hannaleena KokkonenJaakko Leisti Short Report Pages: 83 - 85
Variant detection at the δ opioid receptor (OPRD1) locus and population genetics of a novel variant affecting protein sequence Joel GelernterHenry R. Kranzler Short report Pages: 86 - 88
Physical mapping and exclusion of GPR34 as the causative gene for congenital stationary night blindness type 1 Felix K. JacobiMartina BroghammerCarsten M. Pusch Short Report Pages: 89 - 91
Is there an interchromosomal effect in reciprocal translocation carriers? Sperm FISH studies Anna M. EstopKathy CieplyEleanor Feingold Erratum Pages: 95 - 95
Inheritance of heart rate variability: the kibbutzim family study Ronit SinnreichYechiel FriedlanderJeremy Kark Erratum Pages: 96 - 96