http://www.cnr.it/ontology/cnr/individuo/unitaDiPersonaleInterno/MATRICOLA4036
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- MICHELE D'URSO (literal)
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- The LCR at the IKBKG locus is prone to recombine (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian families. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Identification of novel RP2 mutations in a subset of X-linked Retinitis Pigmentosa families and prediction of new domains (Articolo in rivista) (Prodotto della ricerca)
- Identification and assignment of the human transient receptor potential channel 6 gene TRPC6 to chromosome 11q21 -> q22 (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Characterization of the human STAT5A and STAT5B promoters: evidence of a positive and negative mechanism of transcriptional regulation (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Human synaptobrevin like 1 gene basal transcription is regulated through the interaction of Staf-ZNF143 factors with evolutionary conserved Cis-elements (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- PCR-BASED IMMORTALIZATION AND SCREENING OF HIERARCHICAL POOLS OF CDNAS (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A synaptobrevin-like gene in the Xq28 pseudoautosomal region undergoes X inactivation (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Polyalanine tract expansion in Aristaless-related homeobox (ARX) causes cognitive impairment in MRX87 family (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Screening of mutations in NEMO in a large cohort of Incontinentia Pigmenti patients. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- I geni umani STAT5A e STAT5B: analisi delle regioni promotrici ed identificazione di elementi di regolazione trascrizionale positivi e negativi (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Molecular analysis of MRX loci towards the identification of new disease genes involved in X linked mental retardation (XLMR) (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- High resolution methylation analysis of HMLH1 promoter in sporadic endometrial and colorectal carcinomas. (Articolo in rivista) (Prodotto della ricerca)
- Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes. (Articolo in rivista) (Prodotto della ricerca)
- Characterization of the murine orthologue of a novel human subtelomeric multigene family. (Articolo in rivista) (Prodotto della ricerca)
- The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. (Articolo in rivista) (Prodotto della ricerca)
- Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. (Articolo in rivista) (Prodotto della ricerca)
- Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma dene deletion. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Allelic inactivation of the pseudoautosomal gene SYBL1 is controlled by epigenetic mechanisms common to the X and Y chromosomes. (Articolo in rivista) (Prodotto della ricerca)
- Studio di Inattivazione del cromosoma X in Pazienti affetti da Incontinentia Pigmenti quale Test di diagnostica molecolare. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Analysi genetica di due famiglie italiane affette da Ritardo Mentale X-linked. (Abstract/Comunicazione in atti di convegno) (Prodotto della ricerca)
- Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. (Articolo in rivista) (Prodotto della ricerca)
- Sequence and gene content in 52 kb including and centromeric to the G6PD gene in Xq28. (Articolo in rivista) (Prodotto della ricerca)
- Mutational analysis of the RPGR Exon ORF 15 in South European patients with X-Linked Retinitis Pigmentosa. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Genotype-phenotype correlation in X-linked retinitis pigmentosa family with a novel mutation in RPGR gene. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Differential expression pattern of XqPAR-linked genes SYBL1 and IL9R correlates with the structure and evolution of the region (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Distal Xq28 region: Analysis of two peculiar cases of Incontinentia Pigmenti (IP) and search for new Genetic Markers. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Ridefinizione della mappa genetica della regione distale Xq28 ed identificazione di nuovi possibili geni malattia. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Transcriptome analysis of mouse stem cells and early embryos (Articolo in rivista) (Prodotto della ricerca)
- Longins: a new evolutionary conserved VAMP family sharing a novel SNARE domain. (Articolo in rivista) (Prodotto della ricerca)
- Incontinentia pigmenti with NEMO mutation in a Turkish family (Articolo in rivista) (Prodotto della ricerca)
- Characterization of 2 novel and 2 recurring BRCA1 germline mutations in breast and/or ovarian carcinoma patients from the area of Naples. (Articolo in rivista) (Prodotto della ricerca)
- La via biosintetica della carnitina: identificazione e caratterizzazione di due isoforme dell?enzima TMLD umano ed isolamento del corrispondente ortologo in C.elegans. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappa B activation (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The DNA sequence of the human X chromosome (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report (Articolo in rivista) (Prodotto della ricerca)
- Heterozygosity mapping by quantitative fluorescent PCR reveals an interstitial deletion in Xq26.2-q28 associated with ovarian dysfunction (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Folate treatment and unbalanced methylation and changes of allelic expression induced by hyperhomocysteinaemia in patients with uraemia. (Articolo in rivista) (Prodotto della ricerca)
- VAMP subfamilies identified by specific R-SNARE motifs (Articolo in rivista) (Prodotto della ricerca)
- Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations (Articolo in rivista) (Prodotto della ricerca)
- MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Differential divergence of three human pseudoautosomal genes and their mouse homologs: implications for sex chromosome evolution. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The structure of human STAT5A and B genes reveals two regions of nearly identical sequence and an alternative tissue specific STAT5B promoter (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- GENETIC-MAPPING OF A GENE ENCODING AN ATYPICAL PROTEIN-KINASE-C, PROTEIN-KINASE-C-LAMBDA, TO THE PROXIMAL REGION OF MOUSE CHROMOSOME-3 (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Mapping of MRX81 in Xp11.2-Xq12 suggests the presence of a new gene involved in nonspecific X-linked mental retardation. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Isolation, physical mapping, and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2 (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Physical and genetic characterization reveals a pseudogene, an evolutionary junction, and unstable loci in distal Xq28 (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Coautore
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- Autore CNR
- Transcriptome analysis of mouse stem cells and early embryos (Articolo in rivista) (Prodotto della ricerca)
- Folate treatment and unbalanced methylation and changes of allelic expression induced by hyperhomocysteinaemia in patients with uraemia. (Articolo in rivista) (Prodotto della ricerca)
- Heterozygosity mapping by quantitative fluorescent PCR reveals an interstitial deletion in Xq26.2-q28 associated with ovarian dysfunction (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report (Articolo in rivista) (Prodotto della ricerca)
- Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappa B activation (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The DNA sequence of the human X chromosome (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Longins: a new evolutionary conserved VAMP family sharing a novel SNARE domain. (Articolo in rivista) (Prodotto della ricerca)
- Incontinentia pigmenti with NEMO mutation in a Turkish family (Articolo in rivista) (Prodotto della ricerca)
- Allelic inactivation of the pseudoautosomal gene SYBL1 is controlled by epigenetic mechanisms common to the X and Y chromosomes. (Articolo in rivista) (Prodotto della ricerca)
- Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma dene deletion. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- High resolution methylation analysis of HMLH1 promoter in sporadic endometrial and colorectal carcinomas. (Articolo in rivista) (Prodotto della ricerca)
- The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. (Articolo in rivista) (Prodotto della ricerca)
- Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes. (Articolo in rivista) (Prodotto della ricerca)
- Characterization of the murine orthologue of a novel human subtelomeric multigene family. (Articolo in rivista) (Prodotto della ricerca)
- Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. (Articolo in rivista) (Prodotto della ricerca)
- Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Characterization of the human STAT5A and STAT5B promoters: evidence of a positive and negative mechanism of transcriptional regulation (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Human synaptobrevin like 1 gene basal transcription is regulated through the interaction of Staf-ZNF143 factors with evolutionary conserved Cis-elements (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Identification of novel RP2 mutations in a subset of X-linked Retinitis Pigmentosa families and prediction of new domains (Articolo in rivista) (Prodotto della ricerca)
- The LCR at the IKBKG locus is prone to recombine (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Physical and genetic characterization reveals a pseudogene, an evolutionary junction, and unstable loci in distal Xq28 (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Mapping of MRX81 in Xp11.2-Xq12 suggests the presence of a new gene involved in nonspecific X-linked mental retardation. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Differential divergence of three human pseudoautosomal genes and their mouse homologs: implications for sex chromosome evolution. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The structure of human STAT5A and B genes reveals two regions of nearly identical sequence and an alternative tissue specific STAT5B promoter (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations (Articolo in rivista) (Prodotto della ricerca)
- VAMP subfamilies identified by specific R-SNARE motifs (Articolo in rivista) (Prodotto della ricerca)
- I geni umani STAT5A e STAT5B: analisi delle regioni promotrici ed identificazione di elementi di regolazione trascrizionale positivi e negativi (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Molecular analysis of MRX loci towards the identification of new disease genes involved in X linked mental retardation (XLMR) (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Polyalanine tract expansion in Aristaless-related homeobox (ARX) causes cognitive impairment in MRX87 family (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Screening of mutations in NEMO in a large cohort of Incontinentia Pigmenti patients. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- La via biosintetica della carnitina: identificazione e caratterizzazione di due isoforme dell?enzima TMLD umano ed isolamento del corrispondente ortologo in C.elegans. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Differential expression pattern of XqPAR-linked genes SYBL1 and IL9R correlates with the structure and evolution of the region (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- PCR-BASED IMMORTALIZATION AND SCREENING OF HIERARCHICAL POOLS OF CDNAS (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A synaptobrevin-like gene in the Xq28 pseudoautosomal region undergoes X inactivation (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Identification and assignment of the human transient receptor potential channel 6 gene TRPC6 to chromosome 11q21 -> q22 (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian families. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Characterization of 2 novel and 2 recurring BRCA1 germline mutations in breast and/or ovarian carcinoma patients from the area of Naples. (Articolo in rivista) (Prodotto della ricerca)
- GENETIC-MAPPING OF A GENE ENCODING AN ATYPICAL PROTEIN-KINASE-C, PROTEIN-KINASE-C-LAMBDA, TO THE PROXIMAL REGION OF MOUSE CHROMOSOME-3 (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Isolation, physical mapping, and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2 (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. (Articolo in rivista) (Prodotto della ricerca)
- Sequence and gene content in 52 kb including and centromeric to the G6PD gene in Xq28. (Articolo in rivista) (Prodotto della ricerca)
- Analysi genetica di due famiglie italiane affette da Ritardo Mentale X-linked. (Abstract/Comunicazione in atti di convegno) (Prodotto della ricerca)
- Studio di Inattivazione del cromosoma X in Pazienti affetti da Incontinentia Pigmenti quale Test di diagnostica molecolare. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Distal Xq28 region: Analysis of two peculiar cases of Incontinentia Pigmenti (IP) and search for new Genetic Markers. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Ridefinizione della mappa genetica della regione distale Xq28 ed identificazione di nuovi possibili geni malattia. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Genotype-phenotype correlation in X-linked retinitis pigmentosa family with a novel mutation in RPGR gene. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Mutational analysis of the RPGR Exon ORF 15 in South European patients with X-Linked Retinitis Pigmentosa. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
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