Lista de obras -

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations

artículo científico publicado en 2018

A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes

scientific article published on 12 February 2014

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

artículo científico publicado en 2017

A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome

artículo científico publicado en 2012

A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation

artículo científico publicado en 2016

Airway macrophages from patients with asthma do not proliferate

artículo científico publicado en 1993

Amikacin intoxication induces apoptosis and cell proliferation in rat organ of Corti

scientific article published on 01 February 1998

An unusual familial chromosome 9 "variant" with variable phenotype: characterization by CGH analysis

artículo científico publicado en 2005

Apoptosis and meiotic segregation in ejaculated sperm from Robertsonian translocation carrier patients

artículo científico publicado en 2010

Characterization by microarray and meiotic segregation study of a der(10)t(10;18) in a patient with infertility and normal phenotype

artículo científico publicado en 2016

Characterization of atypical cells in the juvenile rat organ of corti after aminoglycoside ototoxicity

scientific article published on 01 November 1998

Chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) for a rapid first-trimester prenatal diagnosis

scientific article published on 01 April 2004

Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delay.

artículo científico publicado en 2014

Clinical implications of quantitative real-time RT-PCR analysis of hTERT gene expression in human gliomas

artículo científico publicado en 2003

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

artículo científico publicado en 1997

Congenital diaphragmatic hernia and genital anomalies: Emanuel syndrome

artículo científico publicado en 2009

Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome

artículo científico publicado en 2014

Contribution of MLPA to routine diagnostic testing of recurrent genomic aberrations in chronic lymphocytic leukemia.

artículo científico publicado en 2013

De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate.

artículo científico publicado en 2014

De novo unbalanced translocation 2;4 characterized by metaphase CGH and array CGH in a child with mental retardation and dysmorphic features.

artículo científico publicado en 2010

Does the organ of coati attempt to differentiate new hair cells after antibiotic intoxication in rat pups? ⬇️

artículo científico publicado el 1 de julio de 1997

ERCC1 and telomere status in breast tumours treated with neoadjuvant chemotherapy and their association with patient prognosis

artículo científico publicado en 2016

Early telomere shortening and genomic instability in tubo-ovarian preneoplastic lesions.

artículo científico publicado en 2013

Effects of Castration, Depo-Testosterone and Cyproterone Acetate on Lymphocyte T Subsets in Mouse Thymus and Spleen ⬇️

artículo científico publicado el 1 de noviembre de 1991

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

scientific article published on 01 July 2019

Familial deletion 11q14.3-q22.1 without apparent phenotypic consequences: a haplosufficient 8.5 Mb region

article

Fetal skin fibroblasts: a cell model for studying the retinoid pathway in congenital diaphragmatic hernia.

artículo científico publicado en 2010

Gene dosage methods as diagnostic tools for the identification of chromosome abnormalities.

artículo científico publicado en 2008

Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies.

artículo científico publicado en 2006

Identification of preferentially expressed cochlear genes by systematic sequencing of a rat cochlea cDNA library.

artículo científico publicado en 1997

Interleukin-6 gene amplification and shortened survival in glioblastoma patients.

artículo científico publicado en 2007

Larsen-like phenotype associated with partial trisomy 3p and monosomy 5p

artículo científico publicado en 2008

Low MCL-1 mRNA expression correlates with prolonged survival in B-cell chronic lymphocytic leukemia

scientific article published on 29 November 2007

Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.

artículo científico publicado en 2016

Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases

artículo científico publicado en 2014

Prenatal BoBsTM in the cytogenetic analysis of products of spontaneous miscarriage.

artículo científico publicado en 2015

Prenatal Screening of 21 Microdeletion/Microduplication Syndromes and Subtelomeric Imbalances by MLPA in Fetuses with Increased Nuchal Translucency and Normal Karyotype

artículo científico publicado en 2015

Prenatal detection of cryptic rearrangements by multiplex ligation probe amplification in fetuses with ultrasound abnormalities.

artículo científico publicado en 2010

Prenatal detection of mosaic isochromosome 20q: a fourth report with abnormal phenotype.

artículo científico publicado en 2005

Prenatal diagnosis of a rare de novo centromeric chromosome 6 variant

scientific article published on 01 October 2011

Prenatal ultrasound diagnosis of a 48,XXYY syndrome.

artículo científico publicado en 2013

Prevalence of aneuploidies in products of spontaneous abortion: interest of FISH and MLPA.

artículo científico publicado en 2014

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

artículo científico publicado en 2015

Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay

artículo científico publicado en 2014

Riluzole rescues cochlear sensory cells from acoustic trauma in the guinea-pig.

artículo científico publicado en 2002

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

scientific article published on 19 August 2019

SALL4 and NFATC2: two major actors of interstitial 20q13.2 duplication

artículo científico publicado en 2014

Sequential changes in anti-GAL-1 staining of the rat organ of Corti following amikacin exposure.

artículo científico publicado en 1999

Spatial organization of chromosome territories in the interphase nucleus of trisomy 21 cells

artículo científico publicado en 2017

Sperm meiotic segregation of a balanced interchromosomal reciprocal insertion resulting in recurrent spontaneous miscarriage

scientific article published on 09 April 2018

Strong correlation between VEGF and MCL-1 mRNA expression levels in B-cell chronic lymphocytic leukemia.

artículo científico publicado en 2009

TERT promoter status and gene copy number gains: effect on TERT expression and association with prognosis in breast cancer

artículo científico publicado en 2017

Telomere status in chronic lymphocytic leukemia with TP53 disruption.

artículo científico publicado en 2016

Telomeres and chromosomal instability in chronic lymphocytic leukemia.

artículo científico publicado en 2012

Trisomy 20q caused by interstitial duplication 20q13.2: clinical report and literature review.

artículo científico publicado en 2008

Very long-term molecular follow-up of minimal residual disease in patients with neuroblastoma

scientific article published on 14 September 2018

[Half a century of human and medical cytogenetics].

artículo científico publicado en 2009

[Trisomy 21 and cancers]

artículo científico publicado en 2012

Lista de obras de

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations

A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome

A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation

Airway macrophages from patients with asthma do not proliferate

Amikacin intoxication induces apoptosis and cell proliferation in rat organ of Corti

An unusual familial chromosome 9 "variant" with variable phenotype: characterization by CGH analysis

Apoptosis and meiotic segregation in ejaculated sperm from Robertsonian translocation carrier patients

Characterization by microarray and meiotic segregation study of a der(10)t(10;18) in a patient with infertility and normal phenotype

Characterization of atypical cells in the juvenile rat organ of corti after aminoglycoside ototoxicity

Chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) for a rapid first-trimester prenatal diagnosis

Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delay.

Clinical implications of quantitative real-time RT-PCR analysis of hTERT gene expression in human gliomas

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

Congenital diaphragmatic hernia and genital anomalies: Emanuel syndrome

Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome

Contribution of MLPA to routine diagnostic testing of recurrent genomic aberrations in chronic lymphocytic leukemia.

De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate.

De novo unbalanced translocation 2;4 characterized by metaphase CGH and array CGH in a child with mental retardation and dysmorphic features.

Does the organ of coati attempt to differentiate new hair cells after antibiotic intoxication in rat pups? ⬇️

ERCC1 and telomere status in breast tumours treated with neoadjuvant chemotherapy and their association with patient prognosis

Early telomere shortening and genomic instability in tubo-ovarian preneoplastic lesions.

Effects of Castration, Depo-Testosterone and Cyproterone Acetate on Lymphocyte T Subsets in Mouse Thymus and Spleen ⬇️

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Familial deletion 11q14.3-q22.1 without apparent phenotypic consequences: a haplosufficient 8.5 Mb region

Fetal skin fibroblasts: a cell model for studying the retinoid pathway in congenital diaphragmatic hernia.

Gene dosage methods as diagnostic tools for the identification of chromosome abnormalities.

Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies.

Identification of preferentially expressed cochlear genes by systematic sequencing of a rat cochlea cDNA library.

Interleukin-6 gene amplification and shortened survival in glioblastoma patients.

Larsen-like phenotype associated with partial trisomy 3p and monosomy 5p

Low MCL-1 mRNA expression correlates with prolonged survival in B-cell chronic lymphocytic leukemia

Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.

Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases

Prenatal BoBsTM in the cytogenetic analysis of products of spontaneous miscarriage.

Prenatal Screening of 21 Microdeletion/Microduplication Syndromes and Subtelomeric Imbalances by MLPA in Fetuses with Increased Nuchal Translucency and Normal Karyotype

Prenatal detection of cryptic rearrangements by multiplex ligation probe amplification in fetuses with ultrasound abnormalities.

Prenatal detection of mosaic isochromosome 20q: a fourth report with abnormal phenotype.

Prenatal diagnosis of a rare de novo centromeric chromosome 6 variant

Prenatal ultrasound diagnosis of a 48,XXYY syndrome.

Prevalence of aneuploidies in products of spontaneous abortion: interest of FISH and MLPA.

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay

Riluzole rescues cochlear sensory cells from acoustic trauma in the guinea-pig.

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

SALL4 and NFATC2: two major actors of interstitial 20q13.2 duplication

Sequential changes in anti-GAL-1 staining of the rat organ of Corti following amikacin exposure.

Spatial organization of chromosome territories in the interphase nucleus of trisomy 21 cells

Sperm meiotic segregation of a balanced interchromosomal reciprocal insertion resulting in recurrent spontaneous miscarriage

Strong correlation between VEGF and MCL-1 mRNA expression levels in B-cell chronic lymphocytic leukemia.

TERT promoter status and gene copy number gains: effect on TERT expression and association with prognosis in breast cancer

Telomere status in chronic lymphocytic leukemia with TP53 disruption.

Telomeres and chromosomal instability in chronic lymphocytic leukemia.

Trisomy 20q caused by interstitial duplication 20q13.2: clinical report and literature review.

Very long-term molecular follow-up of minimal residual disease in patients with neuroblastoma

[Half a century of human and medical cytogenetics].

[Trisomy 21 and cancers]