Lista de obras - Danielle Depetris - Dominio Público Uruguay

A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy.

artículo científico publicado en 2010

ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein

artículo científico publicado en 2000

Abnormal 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 retardation

artículo científico publicado en 2002

Assignment of IL12RB2 to human chromosome 1p31.3-->p31.2 between D1S230 and D1S198

artículo científico publicado en 1997

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.

artículo científico publicado en 2005

Assignment of the tumor protein p53 induced nuclear protein 2 (TP53INP2) gene to human chromosome band 20q11.2 by in situ hybridization

article

Bivalent 15 regularly associates with the sex vesicle in normal male meiosis

artículo científico publicado en 1999

Chromosomal localization of human RNA polymerase II subunit genes

artículo científico publicado en 1994

Clinical and molecular study of DiGeorge sequence

artículo científico publicado en 1994

Clinical heterogeneity in 16 patients with inv dup 15 chromosome: cytogenetic and molecular studies, search for an imprinting effect

artículo científico publicado en 1996

Cloning of the genes encoding two murine and human cochlear unconventional type I myosins

artículo científico publicado en 1997

Cloning, structural analysis, and mapping of the B30 and B7 multigenic families to the major histocompatibility complex (MHC) and other chromosomal regions ⬇️

artículo científico publicado el 1 de enero de 1997

Definition of a T-cell receptor beta gene core enhancer of V(D)J recombination by transgenic mapping.

artículo científico publicado en 2000

Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males

artículo científico publicado en 2004

Evaluation 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

artículo científico publicado en 1999

Fertile homozygous transgenic mice expressing a functional truncated herpes simplex thymidine kinase delta TK gene

artículo científico publicado en 1998

HP1beta and HP1gamma, but not HP1alpha, decorate the entire XY body during human male meiosis

artículo científico publicado en 2003

In human pachytene spermatocytes, SUMO protein is restricted to the constitutive heterochromatin

artículo científico publicado en 2008

Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome

artículo científico publicado en 1995

Localization 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–q44

article

Mechanism of intrachromosomal triplications 15q11-q13: a new clinical report.

artículo científico publicado en 2003

Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome

artículo científico publicado en 2005

PML nuclear bodies are highly organised DNA-protein structures with a function in heterochromatin remodelling at the G2 phase.

artículo científico publicado en 2006

Position-dependent variegation of a CD4 minigene with targeted expression to mature CD4+ T cells.

artículo científico publicado en 1997

Recurrent rearrangements in the proximal 15q11–q14 region: a new breakpoint cluster specific to unbalanced translocations

scientific article published on 31 January 2007

Screening for subtelomeric rearrangements using automated fluorescent genotyping of microsatellite markers: a Lebanese study

artículo científico publicado en 2005

Splicing-Directed Therapy in a New Mouse Model of Human Accelerated Aging

article

Subcellular distribution of HP1 proteins is altered in ICF syndrome

artículo científico publicado en 2005

TSPY, the candidate gonadoblastoma gene on the human Y chromosome, has a widely expressed homologue on the X - implications for Y chromosome evolution.

artículo científico publicado en 2004

cDNA sequence and chromosomal localization of the NDUFS8 human gene coding for the 23 kDa subunit of the mitochondrial complex I.

artículo científico publicado en 1997

Immunolabelling and flow cytometry as new tools to explore dysferlinopathies

artículo científico publicado el 23 de octubre de 2009

Lista de obras de Danielle Depetris

A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy.

ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein

Abnormal 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 retardation

Assignment of IL12RB2 to human chromosome 1p31.3-->p31.2 between D1S230 and D1S198

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.

Assignment of the tumor protein p53 induced nuclear protein 2 (TP53INP2) gene to human chromosome band 20q11.2 by in situ hybridization

Bivalent 15 regularly associates with the sex vesicle in normal male meiosis

Chromosomal localization of human RNA polymerase II subunit genes

Clinical and molecular study of DiGeorge sequence

Clinical heterogeneity in 16 patients with inv dup 15 chromosome: cytogenetic and molecular studies, search for an imprinting effect

Cloning of the genes encoding two murine and human cochlear unconventional type I myosins

Cloning, structural analysis, and mapping of the B30 and B7 multigenic families to the major histocompatibility complex (MHC) and other chromosomal regions ⬇️

Definition of a T-cell receptor beta gene core enhancer of V(D)J recombination by transgenic mapping.

Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males

Evaluation 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

Fertile homozygous transgenic mice expressing a functional truncated herpes simplex thymidine kinase delta TK gene

HP1beta and HP1gamma, but not HP1alpha, decorate the entire XY body during human male meiosis

In human pachytene spermatocytes, SUMO protein is restricted to the constitutive heterochromatin

Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome

Localization 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–q44

Mechanism of intrachromosomal triplications 15q11-q13: a new clinical report.

Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome

PML nuclear bodies are highly organised DNA-protein structures with a function in heterochromatin remodelling at the G2 phase.

Position-dependent variegation of a CD4 minigene with targeted expression to mature CD4+ T cells.

Recurrent rearrangements in the proximal 15q11–q14 region: a new breakpoint cluster specific to unbalanced translocations

Screening for subtelomeric rearrangements using automated fluorescent genotyping of microsatellite markers: a Lebanese study

Splicing-Directed Therapy in a New Mouse Model of Human Accelerated Aging

Subcellular distribution of HP1 proteins is altered in ICF syndrome

TSPY, the candidate gonadoblastoma gene on the human Y chromosome, has a widely expressed homologue on the X - implications for Y chromosome evolution.

cDNA sequence and chromosomal localization of the NDUFS8 human gene coding for the 23 kDa subunit of the mitochondrial complex I.

Immunolabelling and flow cytometry as new tools to explore dysferlinopathies