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Journal of Medical Genetics|April 16, 1999
An analysis of common isodisomic regions in five mUPD 16 probandsS N Abu-Amero, Z Ali, K K Abu-Amero, et al.Journal of Medical Genetics|April 16, 1999
A Hirschsprung disease locus at 22q11?W S Kerstjens-Frederikse, R M Hofstra, A J van Essen, et al.Journal of Medical Genetics|April 16, 1999
Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitisC Férec, O Raguénès, R Salomon, et al.Journal of Medical Genetics|April 16, 1999
Skin pigmentary anomalies and mosaicism for an acentric marker chromosome originating from 3qM F Portnoï, S Boutchneï, F Bouscarat, et al.Journal of Medical Genetics|April 16, 1999
Mendelian segregation of normal CAG trinucleotide repeat alleles at three autosomal lociJ C MacMillan, J Voisey, S C Healey, et al.Journal of Medical Genetics|May 5, 1999
A molecular and FISH analysis of structurally abnormal Y chromosomes in patients with Turner syndromeD O Robinson, P Dalton, P A Jacobs, et al.Journal of Medical Genetics|May 5, 1999
High frequency of BRCA1/2 germline mutations in 42 Belgian families with a small number of symptomatic subjectsG Goelen, E Teugels, M Bonduelle, et al.Journal of Medical Genetics|May 5, 1999
47,XX,UPD(7)mat,+r(7)pat/46,XX,UPD(7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): possible exclusion of the putative SRS gene from a 7p13-q11 regionO Miyoshi, T Kondoh, H Taneda, et al.Journal of Medical Genetics|May 5, 1999
Directly inherited partial trisomy of chromosome 6p identified in a father and daughter by chromosome microdissectionM B Delatycki, L Voullaire, D Francis, et al.Journal of Medical Genetics|December 1, 1976
Haemoglobin E Saskatoon beta 22 Glu replaced by Lys in the Shetland IslandsS G WelchPageof 649