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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_2/m/print http://hub.abes.fr/bmj/periodical/jmg/2000/volume_37/issue_2/m/web
Date Copyrighted	2000
Rights	Journal of Medical Genetics
issue	2
is Is Part Of of	First description of germline mosaicism in familial hypertrophic cardiomyopathy Evaluation of a counselling protocol for predictive genetic testing for hereditary non-polyposis colorectal cancer The CAG repeat within the androgen receptor gene in male breast cancer patients Shared decision making and non-directiveness in genetic counselling A supernumerary marker chromosome originating from two different regions of chromosome 18 Renal angiomyolipomata and learning difficulty in tuberous sclerosis complex Genetic susceptibility to age related macular degeneration Hypoparathyroidism, retarded growth and development, and dysmorphism or Sanjad-Sakati syndrome: an Arab disease reminiscent of Kenny-Caffey syndrome Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C No evidence for imprinting in distal 18q Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by β sarcoglycan mutations Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation 5p14 deletion associated with microcephaly and seizures Identification of novel alleles at a polymorphic microsatellite repeat region in the human NRAMP1 gene promoter: analysis of allele frequencies in primary biliary cirrhosis Clinical geneticists' attitudes and practice towards testing for breast cancer susceptibility genes Of palms, soles, and gums A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome Deletion and duplication of the adenomatous polyposis coli gene resulting from an interchromosomal insertion involving 5(q22q23.3) in the father Tandem duplication within the neurofibromatosis type 1 gene (NF1) and reciprocal t(15;16)(q26.3;q12.1) translocation in familial association of NF1 with intestinal neuronal dysplasia type B (IND B)

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