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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_10/m/print http://hub.abes.fr/bmj/periodical/jmg/2000/volume_37/issue_10/m/web
Date Copyrighted	2000
Rights	Journal of Medical Genetics
issue	10
is Is Part Of of	Divergent outcomes of intrachromosomal recombination on the human Y chromosome: male infertility and recurrent polymorphism The mutation spectrum in Holt-Oram syndrome An analphoid supernumerary marker chromosome derived from chromosome 3 ascertained in a fetus with multiple malformations Partial tetrasomy 21 in a male infant ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein Punctate calcification of the epiphyses, visceral malformations, and craniofacial dysmorphism in a female baby Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis MPS II in females: molecular basis of two different cases Low frequency of microsatellite instability inBRCA1 mutated breast tumours Mosaicism for a dup(12)(q22q13) in a patient with hypomelanosis of Ito and asymmetry Why patients do not attend for their appointments at a genetics clinic Xp;Yp translocation inherited from the father in anSRY, RBM, andTSPY positive true hermaphrodite with oligozoospermia Channelopathies: ion channel defects linked to heritable clinical disorders Low prevalence of germlineBRCA1 mutations in early onset breast cancer without a family history Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS) Two common forms of the human MLH1gene may be associated with functional differences Benign familial infantile convulsions: report of a UK family and confirmation of genetic heterogeneity FMR3 is a novel gene associated withFRAXE CpG island and transcriptionally silent in FRAXE full mutations Delineation of a new syndrome: clustering of pyloric stenosis, endometriosis, and breast cancer in two families Hemiplegic cerebral palsy and the factor V Leiden mutation Correction for vol. 37, p. 263 A case of dyschondrosteosis from Roman Britain Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-β family Two translocations of chromosome 15q associated with dyslexia Analysis of the human tumour necrosis factor-alpha (TNFα) gene promoter polymorphisms in children with bone cancer Genetics and deafness: what do families want? Dipeptidyl carboxypeptidase 1 (DCP1) and butyrylcholinesterase (BCHE) gene interactions with the apolipoprotein E ε4 allele as risk factors in Alzheimer's disease and in Parkinson's disease with coexisting Alzheimer pathology

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