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Attributs	Valeurs
type	work Issue
Is Part Of	http://hub.abes.fr/bmj/periodical/jmg/2001/volume_38
has manifestation of work	http://hub.abes.fr/bmj/periodical/jmg/2001/volume_38/issue_7/m/print http://hub.abes.fr/bmj/periodical/jmg/2001/volume_38/issue_7/m/web
Date Copyrighted	2001
Rights	Journal of Medical Genetics
issue	7
is Is Part Of of	Pseudoxanthoma elasticum: evidence for the existence of a pseudogene highly homologous to the ABCC6gene Distal arthrogryposis: a new type with distinct facial appearance and absent teeth Absence of learning difficulties in a hyperactive boy with a terminal Xp deletion encompassing the MRX49locus The androgen receptor and DXS15-134 markers show a high rate of discordance for germline X chromosome inactivation Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome withoutMECP2 mutation: implications for the disease A majority of fragile X males with methylated, full mutation alleles have significant levels of FMR1messenger RNA Association between the defective Pro369Ser mutation and in vivo intrahepatic α1-antitrypsin accumulation A clinical study of patients with multiple isolated neurofibromas Chromosome 2 interstitial deletion (del(2)(q14.1q21)) associated with connective tissue laxity and an attention deficit disorder Disruption of one intra-chain disulphide bond in the carboxyl-terminal propeptide of the proα1(I) chain of type I procollagen permits slow assembly and secretion of overmodified, but stable procollagen trimers and results in mild osteogenesis imperfecta PTEN mutations are uncommon in Proteus syndrome Wild type huntingtin reduces the cellular toxicity of mutant huntingtin in mammalian cell models of Huntington's disease Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22 Limited contribution of interchromosomal gene conversion toNF1 gene mutation B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome? Cultural aspects of cancer genetics: setting a research agenda Genotype-phenotype correlation in hereditary multiple exostoses Evaluation of the ELOVL4 gene in families with retinitis pigmentosa linked to theRP25 locus Genetic analysis of the connexin-26 M34T variant A Chinese adult onset type II citrullinaemia patient with 851del4/1638ins23 mutations in the SLC25A13gene Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma

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