About: http://hub.abes.fr/bmj/periodical/jmg/2000/volume_37/issue_8/w

Documentation

scienceplus.abes.fr version Bêta

scienceplus.abes.fr | explorer

À propos de : http://hub.abes.fr/bmj/periodical/jmg/2000/volume_37/issue_8/w Goto Sponge NotDistinct Permalink

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_8/m/print http://hub.abes.fr/bmj/periodical/jmg/2000/volume_37/issue_8/m/web
Date Copyrighted	2000
Rights	Journal of Medical Genetics
issue	8
is Is Part Of of	Autosomal dominant sacral agenesis: Currarino syndrome FISH deletion mapping defines a single location for the Y chromosome stature gene, GCY Monosomy and trisomy 1q44-qter in two sisters originating from a half cryptic 1q;15p translocation Equal expression of type X collagen mRNA from mutant and wild typeCOL10A1 alleles in growth plate cartilage from a patient with metaphyseal chondrodysplasia type Schmid The relationship between neonatal immunoreactive trypsinogen, ΔF508, and IVS8-5T Identification of four novel PMM2mutations in congenital disorders of glycosylation (CDG) Ia French patients Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome Genetic registers in clinical practice: a survey of UK clinical geneticists Distribution of CFTR gene mutations in cystic fibrosis patients from Estonia A family with hereditary port wine stain The role of hypermethylation of thehMLH1 promoter region in HNPCC versus MSI+ sporadic colorectal cancers Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland Duplication of medial 15q confirmed by FISH Ten years of presymptomatic testing for Huntington's disease: the experience of the UK Huntington's Disease Prediction Consortium Distal spinal muscular atrophy with vocal cord paralysis (dSMA-VII) is not linked to the MPD2 locus on chromosome 5q31 Mutations in the MECP2 gene in a cohort of girls with Rett syndrome A constitutional homozygous mutation in theRB1 gene in a patient with unilateral retinoblastoma Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease The gene for branchio-oculo-facial syndrome does not colocalise to theEYA1-4 genes Absence of germline p16INK4a alterations in p53 wild type Li-Fraumeni syndrome families Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy A survey of the current clinical facilities for the management of familial cancer in Europe A child with bisatellited, dicentric chromosome 15 arising from a maternal paracentric inversion of chromosome 15q Fetal bowel hyperechogenicity may indicate mild atypical cystic fibrosis: a case associated with a complex CFTR allele Twin sisters, monozygotic with the fragile X mutation, but with a different phenotype Detailed mapping of a congenital heart disease gene in chromosome 3p25

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata