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Attributs	Valeurs
type	work Issue
Is Part Of	http://hub.abes.fr/bmj/periodical/jmg/2000/volume_37
has manifestation of work	http://hub.abes.fr/bmj/periodical/jmg/2000/volume_37/issue_4/m/print http://hub.abes.fr/bmj/periodical/jmg/2000/volume_37/issue_4/m/web
Date Copyrighted	2000
Rights	Journal of Medical Genetics
issue	4
is Is Part Of of	Can hair be used to screen for breast cancer? An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito Novel mutation in theMYOC gene in primary open angle glaucoma patients Clinical variability of Stickler syndrome with aCOL2A1 haploinsufficiency mutation: implications for genetic counselling Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome Rough skin, brittle hair, and photosensitivity: a mild phenotypic variant of trichothiodystrophy Report of five novel and one recurrentCOL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder Universal primer quantitative fluorescent multiplex (UPQFM) PCR: a method to detect major and minor rearrangements of the low density lipoprotein receptor gene Genotype-phenotype correlation in three homozygotes and nine compound heterozygotes for the cystic fibrosis mutation 2183AA→G shows a severe phenotype A locus for primary ciliary dyskinesia maps to chromosome 19q Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene The first description of lethal pterygium syndrome with facial clefting (Bartsocas-Papas syndrome) in 1600 Mutation analysis of SMAD2,SMAD3, andSMAD4 genes in hereditary non-polyposis colorectal cancer Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13 Mutation screening in Rett syndrome patients Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles Sex reversal and diaphragmatic hernia in phenotypically female sibs with normal XY chromosomes Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications

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