about
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasisMutations in PYCR1 cause cutis laxa with progeroid featuresMutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal DysplasiaA serine/threonine kinase gene defective in Peutz-Jeghers syndromeThe small GTPase RAC3 gene is located within chromosome band 17q25.3 outside and telomeric of a region commonly deleted in breast and ovarian tumoursLocalization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysisMutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical developmentAn ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations.A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer.Analysis of genetic and phenotypic heterogeneity in juvenile polyposis.Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous DysplasiaArrayed preparation of YAC DNA for pulsed field gel analysis.New vector for transfer of yeast artificial chromosomes to mammalian cells.Exclusion of known corneal dystrophy genes in an autosomal dominant pedigree of a unique anterior membrane corneal dystrophy.A novel role for the DNA repair gene Rad51 in Netrin-1 signalling.A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions.YAC DNA preparation and labelling for high throughput FISH analysis.Mitotic recombination of yeast artificial chromosomes.Analysis of the DISC1 translocation partner (11q14.3) in genetic risk of schizophrenia.Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies.A somatic cell hybrid panel for regional mapping of human chromosome 18.The human chromosome content in human x rodent somatic cell hybrids analyzed by a screening technique using Alu PCR.WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.Cholecystokinin system genes: associations with panic and other psychiatric disorders.Mutations in the netrin-1 gene cause congenital mirror movements.Markers, selection, and media in yeast artificial chromosome cloning.Mob2 Insufficiency Disrupts Neuronal Migration in the Developing Cortex.Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.Markers, selection, and media in YAC cloning.Congenital mirror movements: phenotypes associated with DCC and RAD51 mutations.Germline mutations and somatic inactivation of TRIM28 in Wilms tumour.A pericentric inversion of chromosome six in a patient with Peutz-Jeghers' syndrome and the use of FISH to localise the breakpoints on a genetic mapRecessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3Spondyloepiphyseal dysplasia, Omani type: Further definition of the phenotypeHeat shock induces chromosome loss in the yeast Candida albicansUV-induced instability in Candida albicans hybridsGenomic reconstruction by mitotic recombination of YACs
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
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name
David Markie
@ast
David Markie
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David Markie
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David Markie
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David Markie
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type
label
David Markie
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David Markie
@en
David Markie
@es
David Markie
@nl
David Markie
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prefLabel
David Markie
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David Markie
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David Markie
@es
David Markie
@nl
David Markie
@sl
P106
P21
P31
P496
0000-0001-5452-9194