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Attributs	Valeurs
type	work Issue
Is Part Of	http://hub.abes.fr/bmj/periodical/jmg/1999/volume_36
has manifestation of work	http://hub.abes.fr/bmj/periodical/jmg/1999/volume_36/issue_12/m/print http://hub.abes.fr/bmj/periodical/jmg/1999/volume_36/issue_12/m/web
Date Copyrighted	1999
Rights	Journal of Medical Genetics
issue	12
is Is Part Of of	Presymptomatic testing for BRCA1 andBRCA2: how distressing are the pre-test weeks? Clinical and molecular findings in a patient with a deletion on the long arm of chromosome 12 A proven de novo germline mutation in HNPCC Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome Rapid screening for the most common β thalassaemia mutations in south east Asia by PCR based restriction fragment length polymorphism analysis (PCR-RFLP) Pathogenicity of homoplasmic mitochondrial DNA mutation and nuclear gene involvement PTENand LKB1 genes in laryngeal tumours First molecular evidence for a de novo mutation inRS1 (XLRS1) associated with X linked juvenile retinoschisis Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32 Identification and clinical presentation of β thalassaemia mutations in the eastern region of Saudi Arabia Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features Mutational analysis of the HGO gene in Finnish alkaptonuria patients Amelogenesis imperfecta, sensorineural hearing loss, and Beau's lines: a second case report of Heimler's syndrome Familial gastric cancer: overview and guidelines for management* Psychological functioning before predictive testing for Huntington's disease: the role of the parental disease, risk perception, and subjective proximity of the disease Neocentromere formation in a stable ring 1p32-p36.1 chromosome A case of Williams syndrome with a large, visible cytogenetic deletion Skewed sex ratios in familial holoprosencephaly and in people with isolated single maxillary central incisor Leigh syndrome transmitted by uniparental disomy of chromosome 9

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