Neonatal presentation of adult-onset type II citrullinemia Toshihiro OhuraKeiko KobayashiTakeyori Saheki Original Investigation Pages: 87 - 90
A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants Kym BoycottTracy MaybaumN. Bech-Hansen Original Investigation Pages: 91 - 97
Marked differences in unilateral isolated retinoblastomas from young and older children studied by comparative genomic hybridization Susanne HerzogDietmar LohmannHarald Rieder Original Investigation Pages: 98 - 104
Lack of association between α2-macroglobulin polymorphisms and Alzheimer's disease Xiaoyan WangErin LuedeckingM. Kamboh Original Investigation Pages: 105 - 108
Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome Matthew MailmanTamara HemingwayThomas Prior Original Investigation Pages: 109 - 115
Clonal maintenance of imprinted expression of SNRPN and IPW in normal lymphocytes: correlation with allele-specific methylation of SNRPN intron 1 but not intron 7 Damina BalmerJanine M. LaSalle Original Investigation Pages: 116 - 122
Quantitation of fetal DNA in maternal serum in normal and aneuploid pregnancies Yoko OhashiNorio MiharuKoso Ohama Original Investigation Pages: 123 - 127
Polymorphism in promoter region of Fcα receptor gene in patients with IgA nephropathy Toshinao TsugeToshibumi ShimokawaChisei Ra Original Investigation Pages: 128 - 133
Numerical chromosome abnormalities in the spermatozoa of the fathers of children with trisomy 21 of paternal origin: generalised tendency to meiotic non-disjunction Sérgio SoaresCristina TempladoFrancesca Vidal Original Investigation Pages: 134 - 139
Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains Marie WattenhoferKazunori ShibuyaHamish Scott Original Investigation Pages: 140 - 147
Characterization of new mutations in the coding sequence and 5'-untranslated region of the human prostacyclin synthase gene (CYP8A1) Dany ChevalierChristelle CauffiezFranck Broly Original Investigation Pages: 148 - 155
TSC1 and TSC2 deletions differ in size, preference for recombinatorial sequences, and location within the gene Lucia LongaAlessandro SalutoNicola Migone Original Investigation Pages: 156 - 166
Back mutation can produce phenotype reversion in Bloom syndrome somatic cells Nathan EllisSusan CiocciJames German Original investigation Pages: 167 - 173