Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations Anna ErlandsonCecilia BjursellTommy Martinsson Original Investigation Pages: 359 - 367
Delineation of the critical interval for the familial exudative vitreoretinopathy gene by linkage and haplotype analysis Hiroyuki KondoKen OhnoKenshi Hayashi Original Investigation Pages: 368 - 375
DHPLC-based germline mutation screening in the analysis of the VHL tumor suppressor gene: usefulness and limitations Bettina KleinGregor WeirichHiltrud Brauch Original Investigation Pages: 376 - 384
Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians Mustafa TekinNejat AkarArti Pandya Original Investigation Pages: 385 - 389
Mutation analysis of 4 candidate genes for hereditary neuralgic amyotrophy (HNA) J. Meuleman G. Kuhlenbäumer V. Timmerman Original Investigation Pages: 390 - 393
Refinement of the chromosome 5p locus for craniometaphyseal dysplasia D. Chandler S. Tinschert P. Nürnberg Original Investigation Pages: 394 - 397
Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM Sarah RickardMichael ParkerMaria Bitner-Glindzicz Original Investigation Pages: 398 - 403
Molecular and functional characterisation of mild MCAD deficiency Johannes ZschockeAndreas SchulzeErtan Mayatepek Original Investigation Pages: 404 - 408
Cloning and characterization of the human GFRA2 locus and investigation of the gene in Hirschsprung disease Judith B. VanhorneOliver GimmLois M. Mulligan Original Investigation Pages: 409 - 415
Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations E. Serra E. Ars C. Lázaro Original Investigation Pages: 416 - 429
Evidence for a prostate cancer linkage to chromosome 20 in 159 hereditary prostate cancer families Siqun L. ZhengJianfeng XuWilliam B. Isaacs Original Investigation Pages: 430 - 435
Topoisomerase-I- and Alu-mediated genomic deletions of the APC gene in familial adenomatous polyposis Xia CaoKong EuPeh Cheah Short Report Pages: 436 - 442
