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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_4/m/print http://hub.abes.fr/bmj/periodical/jmg/1999/volume_36/issue_4/m/web
Date Copyrighted	1999
Rights	Journal of Medical Genetics
issue	4
is Is Part Of of	The accuracy of diagnoses as reported in families with cancer: a retrospective study Association of a lymphotoxin α gene polymorphism and atopy in Italian families Familial testicular cancer: lack of evidence for trinucleotide repeat expansions and association with PKD1 in one family Tricuspid atresia and conotruncal malformations in five families Breakpoint mapping by FISH in a Sotos patient with a constitutional translocation t(3;6) Evidence for a functional repeat polymorphism in the promoter of the human NRAMP1 gene that correlates with autoimmune versus infectious disease susceptibility Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes A molecular and FISH analysis of structurally abnormal Y chromosomes in patients with Turner syndrome Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma Clinical governance and genetic medicine. Specialist genetic centres and the Confidential Enquiry into Counselling for Genetic Disorders by non-geneticists (CEGEN)* Intracellular inclusions, pathological markers in diseases caused by expanded polyglutamine tracts? High frequency of BRCA1/2 germline mutations in 42 Belgian families with a small number of symptomatic subjects Trisomy/tetrasomy 21 mosaicism in CVS: interpretation of cytogenetic discrepancies between placental and fetal chromosome complements Rapid detection of chromosome aneuploidies by quantitative fluorescence PCR: first application on 247 chorionic villus samples Ectopic NORs on human chromosomes 4qter and 8q11: rare chromosomal variants detected in two families Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation Identification and quantification of somatic mosaicism for a point mutation in a Duchenne muscular dystrophy family Congenital variant Rett syndrome in a girl with terminal deletion of chromosome 3p Unusual fan shaped ossification in a female fetus with radiological features of boomerang dysplasia ERG phenotype of a dystrophin mutation in heterozygous female carriers of Duchenne muscular dystrophy 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 region Directly inherited partial trisomy of chromosome 6p identified in a father and daughter by chromosome microdissection

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