Lista de obras -

11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA

scientific article published on 19 March 2019

22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency

artículo científico publicado en 2018

5q12.1 deletion: Delineation of a phenotype including mental retardation and ocular defects

artículo científico publicado en 2011

A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model

artículo científico publicado en 2024

ATP7A mutation with occipital horns and distal motor Neuropathy: a continuum

artículo científico publicado en 2020

Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility

scientific article published on 09 November 2019

Antenatal finding of 16q24.1 duplication including FOXF1, revealing an autosomal dominant familial pathology with congenital short bowel, malrotation and renal abnormalities

scientific article published on 15 November 2020

Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: an updated map of candidate loci

artículo científico publicado en 2009

Array-CGH diagnosis in ovarian failure: identification of new molecular actors for ovarian physiology

artículo científico publicado en 2016

Autophagy is increased in cryptorchid testis resulting in abnormal spermatozoa

scientific article published on 01 November 2019

Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France

artículo científico publicado en 2019

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation

artículo científico publicado en 2010

Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review.

artículo científico publicado en 2015

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases

artículo científico publicado en 2009

Diagnosis of uncommon renal epithelial neoplasms: performances of fluorescence in situ hybridization

scientific article published on 20 August 2019

Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)

artículo científico publicado en 2020

High level of soluble HLA-G in amniotic fluid is correlated with congenital transmission of Toxoplasma gondii ⬇️

artículo científico publicado el 24 de diciembre de 2010

Histologic prognostic factors associated with chromosomal imbalances in a contemporary series of 89 clear cell renal cell carcinomas

scientific article published on 24 June 2013

Homozygous deletion of an 80 kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy

artículo científico publicado en 2012

Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series

artículo científico publicado en 2009

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

artículo científico publicado en 2014

Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency

artículo científico publicado en 2022

Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation

artículo científico publicado en 2014

Involvement of germline DDX1-MYCN duplication in inherited nephroblastoma.

artículo científico publicado en 2013

Karyotype is not dead (yet)!

artículo científico publicado en 2015

LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss

scientific article published in 2022

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

artículo científico publicado en 2011

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

article

Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes

artículo científico publicado en 2005

New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases ⬇️

artículo científico publicado el 22 de septiembre de 2011

New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing

scientific article published on 20 June 2020

Ovarian response to stimulation for fertility preservation in women with hematologic cancer

scientific article published on 30 September 2020

PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans

artículo científico publicado en 2017

Performance of diagnostic ultrasound to identify causes of hydramnios

scientific article published on 13 September 2020

Postnatal diagnosis of 9q interstitial imbalances involving PTCH1, resulting from a familial intrachromosomal insertion

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Premature ovarian insufficiency in CLPB deficiency: transcriptomic, proteomic and phenotypic insights

artículo científico publicado en 2022

Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations.

artículo científico publicado en 2014

Pseudodicentric Chromosome Originating from Autosomes 9 and 21 in a Male Patient with Oligozoospermia

artículo científico publicado en 2019

STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia

artículo científico publicado en 2020

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

artículo científico publicado en 2017

TP63-truncating variants cause isolated premature ovarian insufficiency

artículo científico publicado en 2019

Terminal 6.9 Mb deletion of chromosome 15q, associated with a structurally abnormal X chromosome in a patient with congenital diaphragmatic hernia and heart defect

artículo científico publicado en 2010

The Landscape and Therapeutic Implications of Molecular Profiles in Epithelial Ovarian Cancer

scientific article published on 15 July 2020

Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress

artículo científico publicado en 2008

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

scientific article published on 28 March 2019

[Anonymity of gamete donation and genetic testing]

scientific article published on 18 June 2020

[Autophagy and spermatozoa]

artículo científico publicado en 2019

Lista de obras de

11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA

22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency

5q12.1 deletion: Delineation of a phenotype including mental retardation and ocular defects

A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model

ATP7A mutation with occipital horns and distal motor Neuropathy: a continuum

Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility

Antenatal finding of 16q24.1 duplication including FOXF1, revealing an autosomal dominant familial pathology with congenital short bowel, malrotation and renal abnormalities

Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: an updated map of candidate loci

Array-CGH diagnosis in ovarian failure: identification of new molecular actors for ovarian physiology

Autophagy is increased in cryptorchid testis resulting in abnormal spermatozoa

Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation

Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review.

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases

Diagnosis of uncommon renal epithelial neoplasms: performances of fluorescence in situ hybridization

Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)

High level of soluble HLA-G in amniotic fluid is correlated with congenital transmission of Toxoplasma gondii ⬇️

Histologic prognostic factors associated with chromosomal imbalances in a contemporary series of 89 clear cell renal cell carcinomas

Homozygous deletion of an 80 kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy

Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency

Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation

Involvement of germline DDX1-MYCN duplication in inherited nephroblastoma.

Karyotype is not dead (yet)!

LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes

New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases ⬇️

New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing

Ovarian response to stimulation for fertility preservation in women with hematologic cancer

PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans

Performance of diagnostic ultrasound to identify causes of hydramnios

Postnatal diagnosis of 9q interstitial imbalances involving PTCH1, resulting from a familial intrachromosomal insertion

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

Premature ovarian insufficiency in CLPB deficiency: transcriptomic, proteomic and phenotypic insights

Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations.

Pseudodicentric Chromosome Originating from Autosomes 9 and 21 in a Male Patient with Oligozoospermia

STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

TP63-truncating variants cause isolated premature ovarian insufficiency

Terminal 6.9 Mb deletion of chromosome 15q, associated with a structurally abnormal X chromosome in a patient with congenital diaphragmatic hernia and heart defect

The Landscape and Therapeutic Implications of Molecular Profiles in Epithelial Ovarian Cancer

Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

[Anonymity of gamete donation and genetic testing]

[Autophagy and spermatozoa]