Siffroi, Jean-Pierre, 19..-....
Jean-Pierre Siffroi researcher
Siffroi, Jean-Pierre
VIAF ID: 211996953 (Personal)
Permalink: http://viaf.org/viaf/211996953
Preferred Forms
- 100 0 _ ‡a Jean-Pierre Siffroi ‡c researcher
- 100 1 _ ‡a SIFFROI, JEAN-PIERRE.
- 100 1 _ ‡a Siffroi, Jean-Pierre
- 100 1 _ ‡a Siffroi, Jean-Pierre, ‡d 19..-....
Works
Title | Sources |
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Analyse des variations du nombre de copies d'ADN dans une cohorte d'hommes infertiles et génération de modèles génétiques d'étude de la méiose à partir de cellules iPS de patients infertiles | |
Anomalies of the corpus callosum : genetic investigations, genotype-phenotype correlations and application in prenatal care. | |
Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays. | |
Biological effects and mechanism of action of cyclic FEE peptide. | |
Caractérisation par cytogénétique moléculaire des chromosomes marqueurs surnuméraires et étude de leur implication dans le développement et la reproduction humaine | |
Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences. | |
Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases | |
Collecting human spermatozoa onto filters for FISH. Application to the study of extreme oligozoospermia | |
Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder | |
CONTRIBUTION A L'ETUDE DE LA SPERMATOGENESE HUMAINE : I) EXPRESSION DES NUCLEOPROTEINES BASIQUES PENDANT LA SPERMIOGENESE II) IMPLICATIONS DES REMANIEMENTS CHROMOSOMIQUES DANS LES ALTERATIONS DE LA SPERMATOGENESE | |
Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability. | |
La déficience intellectuelle : du diagnostic en puces ADN à l'identification de gènes candidats | |
Different Levels of DNA Methylation Detected in Human Sperms after Morphological Selection Using High Magnification Microscopy | |
DNA copy number variations study in a cohort of infertile men and generation of an in vitro model for the study of meiosis from infertile patient's iPS cells. | |
Does anonymous sperm donation increase the risk for unions between relatives and the incidence of autosomal recessive diseases due to consanguinity? | |
Étude des gènes impliqués dans le déterminisme gonadique chez l'homme | |
Étude du mode d'action du peptide FEE cyclique sur la qualité des gamètes et embryons | |
Exploration des causes génétiques des infertilités masculines sévères et implémentation d'une stratégie diagnostique par séquençage haut débit | |
Facteurs génétiques et épigénétiques associés à l'infertilité masculine. | |
Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling. | |
Finding a single XY cell among XX cells in amniotic fluid by FISH: a possible consequence of a vanishing male twin? | |
First Birth after Sperm Selection through Discontinuous Gradient Centrifugation and Artificial Insemination from a Chromosomal Translocation Carrier | |
Functional Human Beige Adipocytes From Induced Pluripotent Stem Cells. | |
Genetic and functional study of human male infertility in familial case of severe oligozoopermia and asthénozoospermia. | |
Genetic basis of mammalian sex determination = Bases génétiques de la détermination sexuelle chez les mammifères | |
Genetic Pathways Implicated in Male Genitalia Differentiation. | |
Genetic study of gonadal development in human. | |
Génétique de l’insuffisance ovarienne prématurée et association aux translocations X;autosome | |
Génétique de l'infertilité masculine : identification de gènes impliqués dans l'azoospermie non obstructive et oligozoospermie sévère. | |
Génétique : internat, programme national | |
A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A | |
GR/GR deletions within the azoospermia factor c region on the Y chromosome might not be associated with spermatogenic failure. | |
Histologie | |
How can the genetic risks of embryo donation be minimized? Proposed guidelines of the French Federation of CECOS (Centre d'Etude et de Conservation des Oeufs et du Sperme). | |
How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome. | |
Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit. | |
Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1 | |
Identification de nouveaux genes responsables d'anomalies du développement par séquençage haut débit d'exome | |
Identification de nouveaux mécanismes moléculaires dans les pathologies de croissance fœtale et postnatale des syndromes de Beckwith-Wiedemann et de Silver-Russell : approche génétique et épigénétique | |
Identification of new genes responsible for syndromic developmental abnormalities using whole exome sequencing. | |
Identification of new molecular defects underlying two diseases relating to growth in humans, the Beckwith-Wiedemann and Silver-Russell syndromes, through genetic and epigenetic approaches. | |
In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene | |
Intellectual disability : from microarray diagnosis to the identification of candidate genes. | |
Investigation of the genetic causes of severe male infertility and implementation of a diagnostic strategy by high-throughput sequencing.. | |
Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements | |
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes | |
Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia | |
Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children. | |
Mécanismes physiopathologiques impliqués dans la différenciation du tractus génital masculin | |
Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients. | |
Molecular cytogenetics analysis with whole chromosome paint probes of sperm nuclei from a (13;15) Robertsonian translocation carrier | |
Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies. | |
A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation. | |
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome | |
Pathways of cyclic FEE peptide in improving gametes and embryos quality. | |
Polymorphisms in DLGH1 and LAMC1 in Mayer-Rokitansky-Kuster-Hauser syndrome | |
Polymorphisms in MTHFR and MTRR genes associated with blood plasma homocysteine concentration and sperm counts. | |
Potential selection of genetically balanced spermatozoa based on the hypo-osmotic swelling test in chromosomal rearrangement carriers. | |
Prenatal diagnosis of a large centromeric heteromorphism of chromosome 12: implications for genetic counseling | |
Prenatal diagnosis of bilateral ectrodactyly and radial agenesis associated with trisomy 10 mosaicism | |
Prevalence of chromosomal abnormalities in phenotypically normal and fertile adult males: large-scale survey of over 10,000 sperm donor karyotypes. | |
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders | |
Réarrangements chromosomiques chez l'homme : ségrégation des chromosomes à la méiose et procréation | |
Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias. | |
Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD) | |
Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders. | |
Simultaneous study of DNA fragmentation and chromosomal segregation in chromosomal translocations carriers. | |
SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy. | |
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient | |
Sperm fluorescence in situ hybridization study in nine men carrying a Robertsonian or a reciprocal translocation: relationship between segregation modes and high-magnification sperm morphology examination. | |
Tail stump syndrome associated with chromosomal translocation in two brothers attempting intracytoplasmic sperm injection. | |
Transcription in haploid male germ cells | |
Utilisation du Whole Exome Sequencing pour la recherche de variants génétiques impliqués dans l'hypospadias | |
Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature | |
Y-chromosome AZFc structural architecture and relationship to male fertility. | |
Y chromosome variants and male reproductive function |