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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_6/m/print http://hub.abes.fr/bmj/periodical/jmg/2000/volume_37/issue_6/m/web
Date Copyrighted	2000
Rights	Journal of Medical Genetics
issue	6
is Is Part Of of	ASALL1 mutation causes a branchio-oto-renal syndrome-like phenotype Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome Pure trisomy 20p resulting from isochromosome formation and whole arm translocation Over-representation of PPARγ sequence variants in sporadic cases of glioblastoma multiforme: preliminary evidence for common low penetrance modifiers for brain tumour risk in the general population Rapid detection of microdeletions using fluorescence in situ hybridisation (FISH) on buccal smears FRAXA and FRAXE: the results of a five year survey The psychological impact of a cancer family history questionnaire completed in general practice Attitudes of von Hippel-Lindau disease patients towards presymptomatic genetic diagnosis in children and prenatal diagnosis Delineation of a complex karyotypic rearrangement by microdissection and CGH in a family affected with split foot New MR/MCA syndrome with distinct facial appearance and general habitus, broad and webbed neck, hypoplastic inverted nipples, epilepsy, and pachygyria of the frontal lobes Tietz syndrome (hypopigmentation/deafness) caused by mutation ofMITF Investigation of meiotic rearrangements in DGS/VCFS patients with a microdeletion 22q11.2 Mutation analysis of GABRR1 andGABRR2 in autosomal recessive retinitis pigmentosa (RP25) The mitochondrial genome in Wolfram syndrome Correction for vol. 36, p. 819 Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation Fine molecular mapping of the 4p16.3 aneuploidy syndromes in four translocation families Two further cases of Sener syndrome: frontonasal dysplasia and dilated Virchow-Robin spaces Molecular characterisation of congenital glaucoma in a consanguineous Canadian community: a step towards preventing glaucoma related blindness Attitudes to genetic testing for breast cancer susceptibility in women at increased risk of developing hereditary breast cancer

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