A pericentric inversion of chromosome six in a patient with Peutz-Jeghers’ syndrome and the use of FISH to localise the breakpoints on a genetic map D. MarkieSusan HusonWalter F. Bodmer Original investigation Pages: 125 - 128
The Ca2+-sensing receptor gene (PCAR1) mutation T151M in isolated autosomal dominant hypoparathyroidism Roger LøvlieHans Geir EikenH. Boman Original investigation Pages: 129 - 133
Identification of a Ser857-Asn857 substitution in DRK1 (KCNB1), population frequencies and lack of association to the low voltage alpha EEG trait C. M. MazzantiA. BergenD. Goldman Original investigation Pages: 134 - 137
Small increase in triplet repeat length of cerebellum from patients with myotonic dystrophy Sumikazu IshiiTakeshi NishioN. Sakuragawa Original investigation Pages: 138 - 140
Pycnodysostosis: refined linkage and radiation hybrid analyses reduce the critical region to 2 cM at 1q21 and map two candidate genes B. D. GelbEric SpencerRobert J. Desnick Original investigation Pages: 141 - 144
Geographic homogeneity and non-equilibrium patterns of mtDNA sequences in Tuscany, Italy Giorgio BertorelleFrancesc CalafellG. Barbujani Original investigation Pages: 145 - 150
Stability of triplet repeats of myotonic dystrophy and fragile X loci in human mutator mismatch repair cell lines Phillip R. KramerChristopher E. PearsonR. R. Sinden Original investigation Pages: 151 - 157
Analysis of sex and ΔF508 in single amniocytes using primer extension preamplification F. SchaaffHeike WedemannEberhard Schwinger Original investigation Pages: 158 - 161
Fetal cells in maternal blood: recovery by charge flow separation S. S. WachtelDavid SammonsLoris McGavran Original investigation Pages: 162 - 166
Mutation screening of 17 Japanese patients with neuropathic Gaucher disease H. IdaOwen M. RennertH. Kawame Original investigation Pages: 167 - 171
X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene Catherine RessotPhilippe LatourD. Pham-Dinh Original investigation Pages: 172 - 175
The G1691A mutation of the coagulation factor V gene (factor V Leiden) is rare in Chinese: an analysis of 618 individuals Y.-L. KoTsu-Shiu HsuYing-Shiung Lee Original investigation Pages: 176 - 177
X-linked myotubular myopathy: refinement of the gene to a 280-kb region with new and highly informative microsatellite markers Ling-Jia HuJocelyn LaporteN. Dahl Original investigation Pages: 178 - 181
An intron 1 splice mutation and a nonsense mutation (W23X) in CYP21 causing severe congenital adrenal hyperplasia Svetlana LajicA. Wedell Original investigation Pages: 182 - 184
Sporadic cardiac myxomas and tumors from patients with Carney complex are not associated with activating mutations of the Gsα gene Luiz DeMarcoConstantine A. StratakisE. Friedman Original investigation Pages: 185 - 188
Mutational spectrum in the neurofibromatosis type 2 gene in sporadic and familial schwannomas D. Bradley WellingMarco GuidaT. W. Prior Original investigation Pages: 189 - 193
DNA polymorphisms and linkage disequilibrium in the angiotensinogen gene L. MorganFiona Broughton PipkinNoor Kalsheker Original investigation Pages: 194 - 198
Antenatal screening and fetal diagnosis of β-thalassemia in a Chinese population: prevalence of the β-thalassemia trait in the Guangzhou area of China X. XuC. LiaoQian Xu Original investigation Pages: 199 - 202
Phenotypic variability in two families with novel splice-site and frameshift NF2 mutations V.-F. MautnerM. E. BaserLan Kluwe Original investigation Pages: 203 - 206
Frequencies of cystic fibrosis mutations in the Maine population: high proportion of unknown alleles in individuals of French-Canadian ancestry J. K. BayleranHailing YanElizabeth M. Simpson Original investigation Pages: 207 - 209
Dual localization of the human gene encoding hnRNP I/PTB protein to chromosomes 19p13.3 and 14q23 Véronique Della ValleMaryvonne le ConiatChristian-Jacques Larsen Original investigation Pages: 210 - 213
Complex segregation analysis of non-myoclonic idiopathic generalized epilepsy in families ascertained from probands affected with idiopathic epilepsy with tonic-clonic seizures in Antioquia, Colombia Iván JiménezOfelia MoraMauricio Arcos-Burgos Original investigation Pages: 214 - 218
Analysis of the BglI restriction fragment length polymorphism in the human factor VIII gene using “virtual PCR”– a novel approach employing the polymerase chain reaction in the absence of sequence information for the locus D. J. BowenKevin K. Hampton Original investigation Pages: 219 - 222
Linkage disequilibrium between the four most common cystic fibrosis mutations and microsatellite haplotypes in the Celtic population of Brittany M. De BraekeleerAndré ChaventréClaude Férec Original investigation Pages: 223 - 227
Possible genetic heterogeneity in the Saethre-Chotzen syndrome Hong Wei MaElisabeth LajeunieMartine Le Merrer Original investigation Pages: 228 - 232
Cloning of contiguous genomic fragments from human chromosome 21 harbouring three trefoil peptide genes Stefanie BeckHolger SchmittP. Gött Rapid communication Pages: 233 - 235
Revised transthyretin Ile 122 allele frequency in African-Americans Daniel R. JacobsonR. PastoreJ. N. Buxbaum Rapid communication Pages: 236 - 238
Are men carrying the apolipoprotein ε4- or ε2 allele less fertile than ε3ε3 genotypes? L. U. GerdesChristian GerdesOle Færgeman Rapid communication Pages: 239 - 242
Screening for human mitochondrial DNA polymorphisms with denaturing gradient gel electrophoresis J. S. HanekampWilliam G. ThillyM. Ahmad Chaudhry Rapid communication Pages: 243 - 245
New mutations in the ataxia telangiectasia gene A. BaumerUlrike BernthalerDetlev Schindler Rapid communication Pages: 246 - 249
