Search filters

List of works by Danielle Depetris

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

scientific article published in September 2010

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

scientific article published on October 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

scientific article

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

scientific article

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.

scientific article published in March 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

scientific article published on 01 January 1999

Chromosomal localization of human RNA polymerase II subunit genes

scientific article (publication date: April 1994)

Clinical and molecular study of DiGeorge sequence

scientific article published in November 1994

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

scientific article published on 01 January 1996

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

scientific article

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

scientific article published on January 1, 1997

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

scientific article

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

scientific article

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

scientific article published on 01 January 1999

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

scientific article published on 01 September 1998

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

scientific article published on 01 January 2003

Immunolabelling and flow cytometry as new tools to explore dysferlinopathies

scientific article published on 23 October 2009

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

scientific article published on 04 July 2008

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

scientific article published on 01 December 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.

scientific article published in April 2003

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

scientific article

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

scientific article published on 30 May 2006

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

scientific article

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

scientific article

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

article

Subcellular distribution of HP1 proteins is altered in ICF syndrome

scientific article published in January 2005

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

scientific article published in January 2004

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

scientific article

Paulina is supported by:

About Paulina

Help