381 results on '"Siffroi, Jean‐Pierre"'
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2. Chromosomal segregation analysis and HOST-based sperm selection in a complex reciprocal translocation carrier
3. Unraveling a case of 46,XY DSD due to 17ß-Hydroxysteroid Dehydrogenase type 3 mutations at the age of 49
4. Whole exome sequencing in a cohort of familial premature ovarian insufficiency cases reveals a broad array of pathogenic or likely pathogenic variants in 50% of families
5. Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies
6. Ovarian reserve in patients with FMR1 gene premutation and the role of fertility preservation
7. Position statement on the diagnosis and management of premature/primary ovarian insufficiency (except Turner Syndrome)
8. Detailed cell-level analysis of sperm nuclear quality among the different hypo-osmotic swelling test (HOST) classes
9. Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)
10. A 14q distal chromoanagenesis elucidated by whole genome sequencing
11. Simple FISH-based evaluation of spermatic nuclear architecture shows an abnormal chromosomal organization in balanced chromosomal rearrangement carriers
12. Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome
13. Atypie du développement génital et risque tumoral : synthèse de la réunion scientifique du 25 mai 2018 organisée par le « Centre de référence des maladies rares du développement génital du fœtus à l’adulte »
14. Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.
15. Le chromosome Y humain : entre nécessité biologique et polymorphisme.
16. Different Nuclear Architecture in Human Sperm According to Their Morphology.
17. Double chromosomal translocation in an infertile man: one-step FISH meiotic segregation analysis and reproductive prognosis
18. Potential selection of genetically balanced spermatozoa based on the hypo-osmotic swelling test in chromosomal rearrangement carriers
19. Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability
20. Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters
21. Characteristics of dilated aortas in patients with Turner syndrome: clinical, histological and cytogenetic analysis
22. Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature
23. Nuclear volume differences between balanced and unbalanced spermatozoa in chromosomal translocation carriers
24. Chromosomal segregation analysis and HOST-based sperm selection in a complex reciprocal translocation carrier
25. Prevalence and characteristics of gonadoblastoma in a retrospective multi-center study with follow-up investigations of 70 patients with Turner syndrome and a 45,X/46,XY karyotype
26. How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome
27. Y Chromosome Microdeletions and Haplotypes
28. Aortic Tissue Analysis in Turner Syndrome
29. Reply of the Authors: Genetics of primary ovarian insufficiency: a careful step-by-step approach based on solid foundations to bring new knowledge
30. Chapitre 2 - Structure et fonction du génome humain : structure des chromosomes ; particularité des chromosomes sexuels ; inactivation du chromosome X
31. Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum
32. Refining the Regulatory Region Upstream of SOX9 Associated with 46,XX Testicular Disorders of Sex Development (DSD)
33. Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements
34. Simultaneous cell by cell study of both DNA fragmentation and chromosomal segregation in spermatozoa from chromosomal rearrangement carriers
35. Molecular Profiling of Spermatozoa Reveals Correlations between Morphology and Gene Expression: A Novel Biomarker Panel for Male Infertility
36. Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1
37. Does anonymous sperm donation increase the risk for unions between relatives and the incidence of autosomal recessive diseases due to consanguinity?
38. Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings
39. Les mutations de DNAH17 causent une infertilité isolée par asthénospermie par défaut d’une dynéine axonémale spécifique du flagelle des spermatozoïdes
40. SRY-negative 46,XX testicular/ovotesticular DSD: Long-term outcomes and early blockade of gonadotropic axis
41. Molecular cytogenetics analysis with whole chromosome paint probes of sperm nuclei from a (13;15) Robertsonian translocation carrier
42. Eutopic endometrium and peritoneal, ovarian and bowel endometriotic tissues express a different profile of matrix metalloproteinases-2, -3 and -11, and of tissue inhibitor metalloproteinases-1 and -2
43. Mutations du gène de la polymérase gamma de l’ADN mitochondrial (POLG) associées à l’infertilité masculine?
44. Discontinuous gradient centrifugation (DGC) decreases the proportion of chromosomally unbalanced spermatozoa in chromosomal rearrangement carriers
45. In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCNQ1OT gene. (Letter to the Editor)
46. Expression of apoptosis-related proteins in peritoneal, ovarian and colorectal endometriosis
47. A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A
48. Are human male patients with DAX1/NR0B1 mutations infertile?
49. SRY ‐negative 46,XX testicular/ovotesticular DSD: Long‐term outcomes and early blockade of gonadotropic axis
50. The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms
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