Programs, databases, and expert systems for human geneticists — a survey Christine FischerSabine SchweigertFriedrich Vogel Review Article Pages: 129 - 137
Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion S. DebrusG. BergerP. Bouvagnet Original Investigation Pages: 138 - 144
Association of CTG repeats and the 1-kbAlu insertion/deletion polymorphism at the myotonin protein kinase gene in the Japanese population suggests a common Eurasian origin of the myotonic dystrophy mutation Hidehisa YamagataTetsuro MikiToshio Ogihara Original Investigation Pages: 145 - 147
Arylsulfatase A pseudodeficiency in Chinese Wuh-Liang HwuLee-Ping TsaiTso-Ren Wang Original Investigation Pages: 148 - 149
Non-invasive early prenatal molecular diagnosis using retrieved transcervical trophoblast cells A. MassariG. NovelliB. Dallapiccola Original Investigation Pages: 150 - 155
Sex difference in the regulation of plasma high density lipoprotein cholesterol by genetic and environmental factors Heikki KaumaMarkku J. SavolainenY. Antero Kesäniemi Original Investigation Pages: 156 - 162
A common region of loss of heterozygosity in Wilms' tumor and embryonal rhabdomyosarcoma distal to the D11S988 locus on chromosome 11p15.5 Corinne Besnard-GuérinIrene NewshamWebster K. Cavenee Original Investigation Pages: 163 - 170
Increased incidence of hyperhaploid 24,XY spermatozoa detected by three-colour FISH in a 46,XY/47,XXY male Edith ChevretSophie RousseauxBernard Sèle Original Investigation Pages: 171 - 175
Cockayne syndrome complementation group B associated with xeroderma pigmentosum phenotype Toshiki ItohJames E. CleaverMasaru Yamaizumi Original Investigation Pages: 176 - 179
Genomic structure and PCR-SSCP analysis of the human CD40 ligand gene: Its application to prenatal screening for X-linked hyper-IgM syndrome Kuniaki SeyamaShiro KiraEiki Kominami Original Investigation Pages: 180 - 185
Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9 Jutta WirthThomas WagnerGerd Scherer Original Investigation Pages: 186 - 193
Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy Ernst W. KrasemannV. MeierF. Hanefeld Original Investigation Pages: 194 - 197
Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome Tord C. OlsenHans G. EikenJaran pold Original Investigation Pages: 198 - 203
Familial adenomatous polyposis: A submicroscopic deletion at the APC locus in a family with mentally normal patients Marion MandlReiner CaspariWaltraut Friedl Original Investigation Pages: 204 - 208
Identification of four novel splice site mutations in the ornithine transcarbamylase gene Elisabeth Oppliger LeibundgutBendicht WermuthSabina Liechti-Gallati Original Investigation Pages: 209 - 213
Severe congenital limb deficiencies, vertebral hypersegmentation, absent thymus and mirror polydactyly: A defect expression of a developmental control gene? Miguel UriosteIsabel Lorda-SánchezMaria Luisa Martínez-Frías Original Investigation Pages: 214 - 217
Trisomy of human chromosome 18: Molecular studies on parental origin and cell stage of nondisjunction Thomas EggermannMarkus M. NöthenGesa Schwanitz Original Investigation Pages: 218 - 223
A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2 Lan KluweVictor -F. Mautner Original Investigation Pages: 224 - 227
A new highly polymorphic marker in the 5' untranslated region of HLA-F shows strong allelic association with haemochromatosis R. Raha-ChowdhuryD. J. BowenM. Worwood Original Investigation Pages: 228 - 231
Expression and regulation of the dystrophin Purkinje promoter in human skeletal muscle, heart, and brain Emma HolderMasato MaedaRoger D. Bies Original Investigation Pages: 232 - 239
Clonality of tuberous sclerosis harmatomas shown by non-random X-chromosome inactivation Andrew J. GreenTiina SeppJohn R. W. Yates Original Investigation Pages: 240 - 243
Psychosis and genes with trinucleotide repeat polymorphism Tsukasa SasakiElizabeth BillettJames L. Kennedy Original Investigation Pages: 244 - 246
X chromosome inactivation in 30 girls with Rett syndrome: Analysis using the probe Philippe CamusNaïma AbbadiSimone Gilgenkrantz Original Investigation Pages: 247 - 250
CpG dinucleotides in the hMSH2 and hMLHI genes are hotspots for HNPCC mutations Yuri K. MaliakaAlla P. ChudinaJean-Marie Buerstedde Rapid Communication Pages: 251 - 255
The murine homolog of the human breast and ovarian cancer susceptibility geneBrca1 maps to mouse chromosome 11D Evelin SchröckPriscilla BadgerLawrence Brody Rapid Communication Pages: 256 - 259
HbF-Lesvos: An HbF variant due to a novel Gγ mutation (:Gγ 75 ATA→ACA) detected in a Greek family Manoussos N. PapadakisGeorge P. PatrinosAphrodite Loutradi-Anagnostou Rapid Communication Pages: 260 - 262
Population study of the G1691A mutation (R506% FV Leiden) in the human factor V gene that is associated with resistance to activated protein C A. BraunB. MüllerA. A. Rosche DNA Variants Pages: 263 - 264
A missense mutation (Thr-6Pro) in the lysosomal acid lipase (LAL) gene is present with a high frequency in three different ethnic populations: Impact on serum lipoprotein concentrations Sandro MuntoniHeiko WiebuschGerd Assmann DNA Variants Pages: 265 - 267
Screening for known mutations in the LDL receptor gene causing familial hypercholesterolemia Trond P. LerenHilde SundvoldKåre Berg Erratum Pages: 268 - 268
