Lista de obras - Pierre F Ray - Dominio Público Uruguay

A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility

article

A new AURKC mutation causing macrozoospermia: implications for human spermatogenesis and clinical diagnosis.

artículo científico publicado en 2011

A new mutation identified in SPATA16 in two globozoospermic patients

artículo científico publicado en 2016

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

artículo científico publicado en 2011

AU040320 deficiency leads to disruption of acrosome biogenesis and infertility in homozygous mutant mice.

artículo científico publicado en 2018

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

artículo científico publicado en 2018

Absence of Dpy19l2, a new inner nuclear membrane protein, causes globozoospermia in mice by preventing the anchoring of the acrosome to the nucleus

scientific journal article

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

artículo científico publicado en 2012

Allelic drop-out and preferential amplification in single cells and human blastomeres: implications for preimplantation diagnosis of sex and cystic fibrosis

artículo científico publicado en 1995

Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis

artículo científico publicado en 2005

Assessment of the reliability of single blastomere analysis for preimplantation diagnosis of the delta F508 deletion causing cystic fibrosis in clinical practice

artículo científico publicado en 1998

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

artículo científico publicado en 2019

Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice

artículo científico publicado en 2019

Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice

scientific article published on 09 September 2019

Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy

scientific article published on 16 September 2020

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

Birth of healthy female twins after preimplantation genetic diagnosis of cystic fibrosis combined with gender determination

artículo científico publicado en 2002

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

scientific article published on 01 October 2019

Can intracytoplasmic morphologically selected sperm injection be used to select normal-sized sperm heads in infertile patients with macrocephalic sperm head syndrome?

artículo científico publicado en 2008

Chronology of reported denaturing high performance liquid chromatography (DHPLC)-based prenatal diagnoses

artículo científico publicado en 2003

Clinical Heterogeneity of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A French Multicenter Retrospective Study

article

Clinical applications of fetal sex determination in maternal blood in a preimplantation genetic diagnosis centre

artículo científico publicado en 2002

Clinical experience with preimplantation genetic diagnosis of cystic fibrosis (delta F508)

artículo científico publicado en 1996

Commentary on "morphological characteristics and initial genetic study of multiple morphological anomalies of the flagella in China".

artículo científico publicado en 2015

Comparative testicular transcriptome of wild type and globozoospermic Dpy19l2 knock out mice

artículo científico publicado en 2013

Comprehensive investigation in patients affected by globozoospermia

artículo científico publicado en 2015

Corrigendum: Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia

artículo científico publicado en 2019

Creation of knock out and knock in mice by CRISPR/Cas9 to validate candidate genes for human male infertility, interest, difficulties and feasibility

artículo científico publicado en 2018

DPY19L2 Deletion as a Major Cause of Globozoospermia.

artículo científico publicado en 2011

DPY19L2 deletion as a major cause of globozoospermia

artículo científico publicado en 2011

Deciphering the Genetics of Male Infertility: Progress and Challenges ⬇️

artículo científico publicado el 17 de agosto de 2011

Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis

artículo científico publicado en 2001

Diversity of RNA-Binding Proteins Modulating Post-Transcriptional Regulation of Protein Expression in the Maturing Mammalian Oocyte

artículo científico publicado en 2020

Dpy19l2-deficient globozoospermic sperm display altered genome packaging and DNA damage that compromises the initiation of embryo development

artículo científico publicado en 2014

Dynamics of Sun5 localization during spermatogenesis in wild type and Dpy19l2 knock-out mice indicates that Sun5 is not involved in acrosome attachment to the nuclear envelope

artículo científico publicado en 2015

Enzymatic activity of mouse group X-sPLA2 improves in vitro production of preimplantation bovine embryos

scientific article published on 01 April 2019

Ethics and genetics of carrier embryos

article

Evolution of preimplantation genetic diagnosis in France

artículo científico publicado en 2001

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

First birth after preimplantation genetic diagnosis performed on thawed embryos

artículo científico publicado en 2003

First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency

artículo científico publicado en 2000

Five years’ experience of preimplantation genetic diagnosis in the Parisian Center: outcome of the first 441 started cycles

artículo científico publicado en 2006

Function of aurora kinase C (AURKC) in human reproduction

artículo científico publicado en 2009

Genetic abnormalities leading to qualitative defects of sperm morphology or function.

artículo científico publicado en 2016

Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player

artículo científico publicado en 2020

Genetic causes of male infertility: snapshot on morphological abnormalities of the sperm flagellum

article

Genetics of male infertility: the new players

artículo científico publicado en 2012

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

Group X secreted phospholipase A2 specifically decreases sperm motility in mice

artículo científico publicado en 2011

Homozygous missense mutation L673P in Adenylate Kinase 7 (AK7) leads to primary male infertility and Multiple Morphological Anomalies of the Flagella but not to Primary Ciliary Dyskinesia.

artículo científico publicado en 2018

Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility.

artículo científico publicado en 2007

Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP

scientific journal article

Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility

scientific article published on 02 May 2019

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

artículo científico publicado en 2012

Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome

artículo científico publicado en 2010

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome and recurrent intrauterine fetal death

scientific article published on 01 May 2015

Improved single-cell protocol for preimplantation genetic diagnosis of spinal muscular atrophy

artículo científico publicado en 2005

Increased number of cells and metabolic activity in male human preimplantation embryos following in vitro fertilization

artículo científico publicado en 1995

Increasing the denaturation temperature during the first cycles of amplification reduces allele dropout from single cells for preimplantation genetic diagnosis

scientific article published on 01 March 1996

Indications et résultats du diagnostic pré-implantatoire (DPI)

artículo científico publicado en 2006

Intérêt du génotypage du sexe fœtal dans le sang maternel dans les indications de diagnostic génétique préimplantatoire de sexe

scientific article published on 01 December 2003

Inverse correlation between chromatin condensation and sperm head size in a case of enlarged sperm heads.

artículo científico publicado en 2011

Les phospholipases, enzymes clés de la physiologie spermatique

artículo científico publicado en 2012

L’expérience parisienne du diagnostic génétique pré-implantatoire (DPI) : bilan des premières naissances

artículo científico publicado en 2005

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

artículo científico publicado en 2012

Measure of sperm DNA fragmentation (SDF): how, why and when?

artículo científico publicado en 2017

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

Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia

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

Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella

artículo científico publicado en 2014

Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men.

artículo científico publicado en 2015

PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice.

artículo científico publicado en 2018

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

artículo científico publicado en 2017

PCR from single cells for preimplantation diagnosis

artículo científico publicado en 1996

Paternal transcripts for glucose-6-phosphate dehydrogenase and adenosine deaminase are first detectable in the human preimplantation embryo at the Three- to Four-Cell stage ⬇️

artículo científico publicado el 1 de diciembre de 1997

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

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

artículo científico publicado en 2003

Preimplantation genetic diagnosis experience in Paris: evaluation of first births

artículo científico publicado en 2002

Preimplantation genetic diagnosis of beta-thalassaemia major

artículo científico publicado en 1996

Preimplantation genetic diagnosis: update of the Parisian group

artículo científico publicado en 2002

Progesterone-induced Acrosome Exocytosis Requires Sequential Involvement of Calcium-independent Phospholipase A2β (iPLA2β) and Group X Secreted Phospholipase A2 (sPLA2)

artículo científico publicado en 2015

Quantitative measurement of transcript levels throughout human preimplantation development: analysis of hypoxanthine phosphoribosyl transferase

artículo científico publicado en 2001

Rapid Proteomic Profiling by MALDI -TOF Mass Spectrometry for Better Brain Tumor Classification

scientific article published on 20 March 2020

Reduced allele dropout in single-cell analysis for preimplantation genetic diagnosis of cystic fibrosis

scientific article published on 01 February 1996

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

artículo científico publicado en 2017

Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28.

artículo científico publicado en 2003

Single cell multiplex PCR amplification of five dystrophin gene exons combined with gender determination

scientific article published on 01 May 2001

Single cell quantification of the 8993T>G NARP mitochondrial DNA mutation by fluorescent PCR

artículo científico publicado en 2004

Single gene defects leading to sperm quantitative anomalies.

artículo científico publicado en 2016

Slo3 K+ channel blocker clofilium extends bull and mouse sperm-fertilizing competence

scientific article published on 01 December 2018

Snake venoms as a source of compounds modulating sperm physiology: Secreted phospholipases A2 from Oxyuranus scutellatus scutellatus impact sperm motility, acrosome reaction and in vitro fertilization in mice

artículo científico publicado en 2010

Spermaurin, an La1-like peptide from the venom of the scorpion Scorpio maurus palmatus, improves sperm motility and fertilization in different mammalian species.

artículo científico publicado en 2016

Subcellular localization of phospholipase Cζ in human sperm and its absence in DPY19L2-deficient sperm are consistent with its role in oocyte activation

artículo científico publicado en 2014

Successful preimplantation genetic diagnosis for sex Link Lesch--Nyhan Syndrome using specific diagnosis

artículo científico publicado en 1999

Sun proteins and Dpy19l2 forming LINC-like links are critical for spermiogenesis

artículo científico publicado en 2016

Teratozoospermia: spotlight on the main genetic actors in the human

artículo científico

The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population

artículo científico publicado en 2009

The effect of group X secreted phospholipase A2 on fertilization outcome is specific and not mimicked by other secreted phospholipases A2 or progesterone

artículo científico publicado en 2013

The essential role of intraflagellar transport protein IFT81 in male mice spermiogenesis and fertility

scientific article published on 01 April 2020

The genetic architecture of morphological abnormalities of the sperm tail

artículo científico publicado en 2020

The involvement of the nuclear lamina in human and rodent spermiogenesis: a systematic review.

artículo científico publicado en 2018

The place of 'social sexing' in medicine and science

artículo científico publicado en 2002

The sperm-associated antigen 6 interactome and its role in spermatogenesis

artículo científico publicado en 2019

Understanding the genetics of human infertility

artículo científico publicado en 2023

Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH2 mutations

artículo científico publicado en 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

Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations.

artículo científico publicado en 2016

XIST expression from the maternal X chromosome in human male preimplantation embryos at the blastocyst stage

artículo científico publicado en 1997

[Chemotaxis of spermatozoa is regulated by progesterone binding on calcium channel CATSPER]

artículo científico publicado en 2011

[Homozygous deletion of DPY19L2 is responsible for most cases of globozoospermia]

artículo científico publicado en 2011

[Oocyte maturation failure: an essential role for the protein PATL2 in human oogenesis]

scientific article published on 01 December 2018

[Predictable male causes of in vitro fertilization (IVF) with intra cytoplasmic sperm injection (ICSI) failure]

artículo científico publicado en 2010

Lista de obras de Pierre F Ray

A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility

A new AURKC mutation causing macrozoospermia: implications for human spermatogenesis and clinical diagnosis.

A new mutation identified in SPATA16 in two globozoospermic patients

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

AU040320 deficiency leads to disruption of acrosome biogenesis and infertility in homozygous mutant mice.

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

Absence of Dpy19l2, a new inner nuclear membrane protein, causes globozoospermia in mice by preventing the anchoring of the acrosome to the nucleus

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

Allelic drop-out and preferential amplification in single cells and human blastomeres: implications for preimplantation diagnosis of sex and cystic fibrosis

Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis

Assessment of the reliability of single blastomere analysis for preimplantation diagnosis of the delta F508 deletion causing cystic fibrosis in clinical practice

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

Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice

Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice

Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy

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

Birth of healthy female twins after preimplantation genetic diagnosis of cystic fibrosis combined with gender determination

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

Can intracytoplasmic morphologically selected sperm injection be used to select normal-sized sperm heads in infertile patients with macrocephalic sperm head syndrome?

Chronology of reported denaturing high performance liquid chromatography (DHPLC)-based prenatal diagnoses

Clinical Heterogeneity of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A French Multicenter Retrospective Study

Clinical applications of fetal sex determination in maternal blood in a preimplantation genetic diagnosis centre

Clinical experience with preimplantation genetic diagnosis of cystic fibrosis (delta F508)

Commentary on "morphological characteristics and initial genetic study of multiple morphological anomalies of the flagella in China".

Comparative testicular transcriptome of wild type and globozoospermic Dpy19l2 knock out mice

Comprehensive investigation in patients affected by globozoospermia

Corrigendum: Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia

Creation of knock out and knock in mice by CRISPR/Cas9 to validate candidate genes for human male infertility, interest, difficulties and feasibility

DPY19L2 Deletion as a Major Cause of Globozoospermia.

DPY19L2 deletion as a major cause of globozoospermia

Deciphering the Genetics of Male Infertility: Progress and Challenges ⬇️

Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis

Diversity of RNA-Binding Proteins Modulating Post-Transcriptional Regulation of Protein Expression in the Maturing Mammalian Oocyte

Dpy19l2-deficient globozoospermic sperm display altered genome packaging and DNA damage that compromises the initiation of embryo development

Dynamics of Sun5 localization during spermatogenesis in wild type and Dpy19l2 knock-out mice indicates that Sun5 is not involved in acrosome attachment to the nuclear envelope

Enzymatic activity of mouse group X-sPLA2 improves in vitro production of preimplantation bovine embryos

Ethics and genetics of carrier embryos

Evolution of preimplantation genetic diagnosis in France

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

First birth after preimplantation genetic diagnosis performed on thawed embryos

First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency

Five years’ experience of preimplantation genetic diagnosis in the Parisian Center: outcome of the first 441 started cycles

Function of aurora kinase C (AURKC) in human reproduction

Genetic abnormalities leading to qualitative defects of sperm morphology or function.

Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player

Genetic causes of male infertility: snapshot on morphological abnormalities of the sperm flagellum

Genetics of male infertility: the new players

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

Group X secreted phospholipase A2 specifically decreases sperm motility in mice

Homozygous missense mutation L673P in Adenylate Kinase 7 (AK7) leads to primary male infertility and Multiple Morphological Anomalies of the Flagella but not to Primary Ciliary Dyskinesia.

Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility.

Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP

Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility

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

Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome and recurrent intrauterine fetal death

Improved single-cell protocol for preimplantation genetic diagnosis of spinal muscular atrophy

Increased number of cells and metabolic activity in male human preimplantation embryos following in vitro fertilization

Increasing the denaturation temperature during the first cycles of amplification reduces allele dropout from single cells for preimplantation genetic diagnosis

Indications et résultats du diagnostic pré-implantatoire (DPI)

Intérêt du génotypage du sexe fœtal dans le sang maternel dans les indications de diagnostic génétique préimplantatoire de sexe

Inverse correlation between chromatin condensation and sperm head size in a case of enlarged sperm heads.

Les phospholipases, enzymes clés de la physiologie spermatique

L’expérience parisienne du diagnostic génétique pré-implantatoire (DPI) : bilan des premières naissances

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

Measure of sperm DNA fragmentation (SDF): how, why and when?

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.

Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia

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

Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella

Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men.

PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice.

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

PCR from single cells for preimplantation diagnosis

Paternal transcripts for glucose-6-phosphate dehydrogenase and adenosine deaminase are first detectable in the human preimplantation embryo at the Three- to Four-Cell stage ⬇️

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

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

Preimplantation genetic diagnosis experience in Paris: evaluation of first births