List of works - Marie-Geneviève Mattéi

A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human.

scientific article

A novel mechanism for thalassaemia intermedia

scientific article published in The Lancet

A transformed human tracheal gland cell line, MM-39, that retains serous secretory functions.

scientific article published on October 1996

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 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 connexin 26 (GJB2) and 46 (GJA3) genes to human chromosome 13q11-->q12 and mouse chromosome 14D1-E1 by in situ hybridization

scientific article published on 01 January 1996

Assignment of the human membrane-type matrix metalloproteinase (MMP14) gene to 14q11-q12 by in situ hybridization

scientific article published on 01 July 1995

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

article

Assignment of vascular endothelial growth factor (VEGF) and placenta growth factor (PLGF) genes to human chromosome 6p12-p21 and 14q24-q31 regions, respectively

scientific article

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

scientific article published on 01 January 1999

Centrosome overduplication and mitotic instability in PKD2 transgenic lines

scientific article

Characterization of genes encoding translation initiation factor eIF-2gamma in mouse and human: sex chromosome localization, escape from X-inactivation and evolution

scientific article

Chromosomal localization of human RNA polymerase II subunit genes

scientific article (publication date: April 1994)

Chromosomal localization of two mouse genes encoding thymus-specific serine peptidase and thymus-expressed acidic protein

article

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 human striatin cDNA (STRN), gene mapping to 2p22-p21, and preferential expression in brain

scientific article

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

scientific article

Cloning, chromosomal localization, and physical linkage of the beta and gamma subunits (SCNN1B and SCNN1G) of the human epithelial amiloride-sensitive sodium channel

scientific article

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

Gene structure, expression pattern, and biological activity of mouse killer cell activating receptor-associated protein (KARAP)/DAP-12

scientific journal article

Genomic organization and the tissue distribution of alternatively spliced isoforms of the mouse Spatial gene

scientific article

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

scientific article published on 01 January 2003

Hes1 is expressed in the second heart field and is required for outflow tract development

scientific journal article

Identification and characterization of a novel human matrix metalloproteinase with unique structural characteristics, chromosomal location, and tissue distribution

scientific article

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

scientific article published on 04 July 2008

Inherited DNA amplification of the proximal 15q region: cytogenetic and molecular studies.

scientific article

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

scientific article published on 01 December 1995

Intrachromosomal triplication for the distal part of chromosome 15q.

scientific article published in July 2005

Isolation and regional mapping of cDNAs expressed during early human development.

scientific article published on January 1997

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

Localization of the gene encoding peptidylglycine alpha-amidating monooxygenase (PAM) to human chromosome 5q14-5q21

scientific 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

Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy

scientific article published on 18 January 2010

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

SRPX2 mutations in disorders of language cortex and cognition

scientific article

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

scientific article

Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility

scientific article

Subacute myeloid leukemia with the Philadelphia chromosome and supplementary translocation: 9-12

scientific article published on 01 January 1977

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

The gene encoding L1, a neural adhesion molecule of the immunoglobulin family, is located on the X chromosome in mouse and man.

scientific article

The human H-twist gene is located at 7p21 and encodes a B-HLH protein that is 96% similar to its murine M-twist counterpart

scientific article

The human pre-B-specific lambda-like cluster is located in the 22q11.2-22q12.3 region, distal to the IgC lambda locus

scientific article

The mouse Necdin gene is expressed from the paternal allele only and lies in the 7C region of the mouse chromosome 7, a region of conserved synteny to the human Prader-Willi syndrome region

scientific article

Two human genes related to murine vanin-1 are located on the long arm of human chromosome 6

scientific article

Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocation

scientific article

Vanin genes are clustered (human 6q22-24 and mouse 10A2B1) and encode isoforms of pantetheinase ectoenzymes

scientific article

[Long Y chromosome (Yq+) and phenotype abnormalities. Fluorescence study]

scientific article

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

scientific article

List of works by Marie-Geneviève Mattéi

A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human.

A novel mechanism for thalassaemia intermedia

A transformed human tracheal gland cell line, MM-39, that retains serous secretory functions.

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 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 connexin 26 (GJB2) and 46 (GJA3) genes to human chromosome 13q11-->q12 and mouse chromosome 14D1-E1 by in situ hybridization

Assignment of the human membrane-type matrix metalloproteinase (MMP14) gene to 14q11-q12 by in situ hybridization

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

Assignment of vascular endothelial growth factor (VEGF) and placenta growth factor (PLGF) genes to human chromosome 6p12-p21 and 14q24-q31 regions, respectively

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

Centrosome overduplication and mitotic instability in PKD2 transgenic lines

Characterization of genes encoding translation initiation factor eIF-2gamma in mouse and human: sex chromosome localization, escape from X-inactivation and evolution

Chromosomal localization of human RNA polymerase II subunit genes

Chromosomal localization of two mouse genes encoding thymus-specific serine peptidase and thymus-expressed acidic protein

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 human striatin cDNA (STRN), gene mapping to 2p22-p21, and preferential expression in brain

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

Cloning, chromosomal localization, and physical linkage of the beta and gamma subunits (SCNN1B and SCNN1G) of the human epithelial amiloride-sensitive sodium channel

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

Gene structure, expression pattern, and biological activity of mouse killer cell activating receptor-associated protein (KARAP)/DAP-12

Genomic organization and the tissue distribution of alternatively spliced isoforms of the mouse Spatial gene

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

Hes1 is expressed in the second heart field and is required for outflow tract development

Identification and characterization of a novel human matrix metalloproteinase with unique structural characteristics, chromosomal location, and tissue distribution

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

Inherited DNA amplification of the proximal 15q region: cytogenetic and molecular studies.

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

Intrachromosomal triplication for the distal part of chromosome 15q.

Isolation and regional mapping of cDNAs expressed during early human development.

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

Localization of the gene encoding peptidylglycine alpha-amidating monooxygenase (PAM) to human chromosome 5q14-5q21

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

Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy

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

SRPX2 mutations in disorders of language cortex and cognition

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

Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility

Subacute myeloid leukemia with the Philadelphia chromosome and supplementary translocation: 9-12

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.

The gene encoding L1, a neural adhesion molecule of the immunoglobulin family, is located on the X chromosome in mouse and man.

The human H-twist gene is located at 7p21 and encodes a B-HLH protein that is 96% similar to its murine M-twist counterpart

The human pre-B-specific lambda-like cluster is located in the 22q11.2-22q12.3 region, distal to the IgC lambda locus

The mouse Necdin gene is expressed from the paternal allele only and lies in the 7C region of the mouse chromosome 7, a region of conserved synteny to the human Prader-Willi syndrome region

Two human genes related to murine vanin-1 are located on the long arm of human chromosome 6

Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocation

Vanin genes are clustered (human 6q22-24 and mouse 10A2B1) and encode isoforms of pantetheinase ectoenzymes

[Long Y chromosome (Yq+) and phenotype abnormalities. Fluorescence study]

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