Lista de obras - Véronique Satre - Dominio Público Uruguay

13q31.1 microdeletion: A prenatal case report with macrocephaly and macroglossia

artículo científico publicado en 2015

17p13.1 microduplication in a boy with Silver-Russell syndrome features and intellectual disability

scientific article published on 17 August 2012

190-kb duplication in 1p36.11 including PIGV and ARID1A genes in a girl with intellectual disability and hexadactyly

artículo científico publicado en 2013

7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot.

artículo científico publicado en 2014

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

artículo científico publicado en 2017

A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation

artículo científico publicado en 2011

Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse.

artículo científico publicado en 2018

Array-CGH in children with mild intellectual disability: a population-based study.

artículo científico publicado en 2014

Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice

artículo científico publicado en 2019

Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility

scientific article published on 11 March 2020

CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report

scientific article published on 01 October 2019

Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene

artículo científico publicado en 1999

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

artículo científico publicado en 2016

Clinical, Functional and Genetic Analysis of Twenty-Four Patients with Chronic Granulomatous Disease – Identification of Eight Novel Mutations in CYBB and NCF2 Genes

article

Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements

artículo científico publicado en 2012

Currarino Syndrome and HPE Microform Associated with a 2.7-Mb Deletion in 7q36.3 Excluding SHH Gene

artículo científico publicado en 2013

End-stage renal failure in Lowe syndrome

scientific article published on 01 September 2003

Epilepsy and hypothalamic hamartoma: look at the hand Pallister-Hall syndrome.

artículo científico publicado en 2003

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

scientific article published on 01 July 2019

FISH and tips: a large scale analysis of automated versus manual scoring for sperm aneuploidy detection.

artículo científico publicado en 2013

Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population

artículo científico publicado en 2013

Fine mapping of re-arranged Y chromosome in three infertile patients with non-obstructive azoospermia/cryptozoospermia.

artículo científico publicado en 2007

From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes

scientific article published on 10 March 2011

Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease.

artículo científico publicado en 2013

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

artículo científico publicado en 2018

Genomic duplication in the 19q13.42 imprinted region identified as a new genetic cause of intrauterine growth restriction

scientific article published on 17 October 2018

Hyperechogenic fetal bowel: a large French collaborative study of 682 cases

scientific article published on 01 September 2003

Identification of a new recurrent aurora kinase C mutation in both European and African men with macrozoospermia.

artículo científico publicado en 2012

Interphase fluorescent in situ hybridization detection of the 7q11.23 chromosomal inversion in a clinical laboratory: automated versus manual scoring

scientific article published on 01 April 2013

Is sperm FISH analysis still useful for Robertsonian translocations? Meiotic analysis for 23 patients and review of the literature.

artículo científico publicado en 2018

Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi network

artículo científico publicado en 2003

Lowe syndrome protein Ocrl1 is translocated to membrane ruffles upon Rac GTPase activation: a new perspective on Lowe syndrome pathophysiology

artículo científico publicado en 2005

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype

artículo científico publicado en 2018

MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia.

artículo científico publicado en 2012

Maternal complex chromosomal rearrangement leads to TCF12 microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability.

artículo científico publicado en 2014

Microdeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomalies

artículo científico publicado en 2015

Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features.

artículo científico publicado en 2016

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

artículo científico publicado en 2011

Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study.

artículo científico publicado en 2013

Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.

artículo científico publicado en 2018

Optimized Generation of Functional Neutrophils and Macrophages from Patient-Specific Induced Pluripotent Stem Cells: Ex Vivo Models of X(0)-Linked, AR22(0)- and AR47(0)- Chronic Granulomatous Diseases

artículo científico publicado en 2014

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

artículo científico publicado en 2017

Patients with multiple morphological abnormalities of the sperm flagella due to DNAH1 mutations have a good prognosis following intracytoplasmic sperm injection.

artículo científico publicado en 2016

Prenatal diagnosis of DMD in a female foetus affected by Turner syndrome

artículo científico publicado en 2004

Rare duplication or deletion of exons 6, 7 and 8 in CYBB leading to X-linked chronic granulomatous disease in two patients from different families

artículo científico publicado en 2012

SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes

artículo científico publicado en 2017

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

Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella

scientific article published on 01 October 2018

Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis

artículo científico publicado en 2019

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

artículo científico publicado en 2016

[Genetics of male infertility: the new players].

artículo científico publicado en 2012

Lista de obras de Véronique Satre

13q31.1 microdeletion: A prenatal case report with macrocephaly and macroglossia

17p13.1 microduplication in a boy with Silver-Russell syndrome features and intellectual disability

190-kb duplication in 1p36.11 including PIGV and ARID1A genes in a girl with intellectual disability and hexadactyly

7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot.

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

A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation

Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse.

Array-CGH in children with mild intellectual disability: a population-based study.

Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice

Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility

CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report

Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

Clinical, Functional and Genetic Analysis of Twenty-Four Patients with Chronic Granulomatous Disease – Identification of Eight Novel Mutations in CYBB and NCF2 Genes

Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements

Currarino Syndrome and HPE Microform Associated with a 2.7-Mb Deletion in 7q36.3 Excluding SHH Gene

End-stage renal failure in Lowe syndrome

Epilepsy and hypothalamic hamartoma: look at the hand Pallister-Hall syndrome.

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

FISH and tips: a large scale analysis of automated versus manual scoring for sperm aneuploidy detection.

Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population

Fine mapping of re-arranged Y chromosome in three infertile patients with non-obstructive azoospermia/cryptozoospermia.

From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes

Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease.

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Genomic duplication in the 19q13.42 imprinted region identified as a new genetic cause of intrauterine growth restriction

Hyperechogenic fetal bowel: a large French collaborative study of 682 cases

Identification of a new recurrent aurora kinase C mutation in both European and African men with macrozoospermia.

Interphase fluorescent in situ hybridization detection of the 7q11.23 chromosomal inversion in a clinical laboratory: automated versus manual scoring

Is sperm FISH analysis still useful for Robertsonian translocations? Meiotic analysis for 23 patients and review of the literature.

Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi network

Lowe syndrome protein Ocrl1 is translocated to membrane ruffles upon Rac GTPase activation: a new perspective on Lowe syndrome pathophysiology

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype

MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia.

Maternal complex chromosomal rearrangement leads to TCF12 microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability.

Microdeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomalies

Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features.

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

Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study.

Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.

Optimized Generation of Functional Neutrophils and Macrophages from Patient-Specific Induced Pluripotent Stem Cells: Ex Vivo Models of X(0)-Linked, AR22(0)- and AR47(0)- Chronic Granulomatous Diseases

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

Patients with multiple morphological abnormalities of the sperm flagella due to DNAH1 mutations have a good prognosis following intracytoplasmic sperm injection.

Prenatal diagnosis of DMD in a female foetus affected by Turner syndrome

Rare duplication or deletion of exons 6, 7 and 8 in CYBB leading to X-linked chronic granulomatous disease in two patients from different families

SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes

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

Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella

Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

[Genetics of male infertility: the new players].