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Attributs	Valeurs
type	work Issue
Is Part Of	http://hub.abes.fr/bmj/periodical/jmg/2008/volume_45
has manifestation of work	http://hub.abes.fr/bmj/periodical/jmg/2008/volume_45/issue_7/m/print http://hub.abes.fr/bmj/periodical/jmg/2008/volume_45/issue_7/m/web
Date Copyrighted	2008
Rights	2008 BMJ Publishing Group
issue	7
Access Rights	open-access
is Is Part Of of	Identification of a 2244 base pair interstitial deletion within the human ESR1 gene in the Spanish population Dentin phosphoprotein frameshift mutations in hereditary dentin disorders and their variation patterns in normal human population Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics Identifying pathogenic genetic background of simplex or multiplex retinitis pigmentosa patients: a large scale mutation screening study Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene Towards more effective and equitable genetic testing for BRCA1 and BRCA2 mutation carriers Genome-wide linkage scan for loci of musical aptitude in Finnish families: evidence for a major locus at 4q22 Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy Heterogeneity in the processing defect of SLC26A4 mutants High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation

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