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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_7/m/web http://hub.abes.fr/bmj/periodical/jmg/2000/volume_37/issue_7/m/print
Date Copyrighted	2000
Rights	Journal of Medical Genetics
issue	7
is Is Part Of of	Many ΔF508 heterozygote neonates with transient hypertrypsinaemia have a second, mild CFTRmutation Further evidence for genetic heterogeneity of autosomal dominant disorders with accumulation of multiple deletions of mitochondrial DNA The genetics of childhood cataract Cockayne syndrome associated with low CSF 5-hydroxyindole acetic acid levels Correction for vol. 36, p. 94 Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation Liebenberg syndrome: brachydactyly with joint dysplasia (MIM 186550): a second family Mutational germline analysis of hMSH2 andhMLH1 genes in early onset colorectal cancer patients Does the survival motor neuron protein (SMN) interact with Bcl-2? A clinical study of 57 children with fetal anticonvulsant syndromes Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia Prenatal detection of trisomy for the entire long arm of chromosome 7 Unilateral lobar pulmonary agenesis in sibs Incidence of germline hMLH1 andhMSH2 mutations (HNPCC patients) among newly diagnosed colorectal cancers in a Slovenian population Novel mutations in the homogentisate- 1,2-dioxygenase gene identified in Slovak patients with alkaptonuria The ACE I allele is associated with increased risk for ruptured intracranial aneurysms Evaluation of the HOX11L1 gene as a candidate for congenital disorders of intestinal innervation Two novel germline mutations of the retinoblastoma gene (RB1) that show incomplete penetrance, one splice site and one missense Gene amplification in PNETs/medulloblastomas: mapping of a novel amplified gene within the MYCN amplicon Molecular cytogenetic characterisation of partial trisomy 9q in a case with pyloric stenosis and a review Alström syndrome: confirmation of linkage to chromosome 2p12-13 and phenotypic heterogeneity in three affected sibs Clinical and molecular correlates of somatic mosaicism in neurofibromatosis 2 Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow up Complementation studies in the cblAclass of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH)

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