about
Cloning of the genes encoding two murine and human cochlear unconventional type I myosinsDisruption of a new X linked gene highly expressed in brain in a family with two mentally retarded malesAbnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardationChromosomal localization of human RNA polymerase II subunit genesAssignment of IL12RB2 to human chromosome 1p31.3-->p31.2 between D1S230 and D1S198Definition of a T-cell receptor beta gene core enhancer of V(D)J recombination by transgenic mapping.cDNA sequence and chromosomal localization of the NDUFS8 human gene coding for the 23 kDa subunit of the mitochondrial complex I.ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X proteinPML nuclear bodies are highly organised DNA-protein structures with a function in heterochromatin remodelling at the G2 phase.Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes.A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy.Position-dependent variegation of a CD4 minigene with targeted expression to mature CD4+ T cells.TSPY, the candidate gonadoblastoma gene on the human Y chromosome, has a widely expressed homologue on the X - implications for Y chromosome evolution.Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.Screening for subtelomeric rearrangements using automated fluorescent genotyping of microsatellite markers: a Lebanese study.Subcellular distribution of HP1 proteins is altered in ICF syndrome.Mechanism of intrachromosomal triplications 15q11-q13: a new clinical report.Clinical and molecular study of DiGeorge sequence.Splicing-Directed Therapy in a New Mouse Model of Human Accelerated AgingFertile homozygous transgenic mice expressing a functional truncated herpes simplex thymidine kinase delta TK geneImmunolabelling and flow cytometry as new tools to explore dysferlinopathiesIn human pachytene spermatocytes, SUMO protein is restricted to the constitutive heterochromatinRecurrent rearrangements in the proximal 15q11–q14 region: a new breakpoint cluster specific to unbalanced translocationsAssignment of the tumor protein p53 induced nuclear protein 2 (TP53INP2) gene to human chromosome band 20q11.2 by in situ hybridizationHP1beta and HP1gamma, but not HP1alpha, decorate the entire XY body during human male meiosisBivalent 15 regularly associates with the sex vesicle in normal male meiosisLocalization of the Rab Escort Protein-2 (REP2) and Inositol 1,4,5-Trisphosphate 3-Kinase (ITPKB) Genes to Mouse Chromosome 1 byin SituHybridization and Precision of the Syntenic Regions between Mouse and Human 1q42–q44Clinical heterogeneity in 16 patients with inv dup 15 chromosome: cytogenetic and molecular studies, search for an imprinting effectInterstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndromeEvaluation of the genotoxic activity of paclitaxel by the in vitro micronucleus test in combination with fluorescent in situ hybridization of a DNA centromeric probe and the alkaline single cell gel electrophoresis technique (comet assay) in human T
P50
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P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Danielle Depetris
@ast
Danielle Depetris
@en
Danielle Depetris
@es
Danielle Depetris
@nl
Danielle Depetris
@sl
type
label
Danielle Depetris
@ast
Danielle Depetris
@en
Danielle Depetris
@es
Danielle Depetris
@nl
Danielle Depetris
@sl
prefLabel
Danielle Depetris
@ast
Danielle Depetris
@en
Danielle Depetris
@es
Danielle Depetris
@nl
Danielle Depetris
@sl
P106
P21
P31
P496
0000-0003-4619-4915