204 results on '"Dupont, Jean-Michel"'
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2. An unusual familial Xp22.12 microduplication including EIF1AX: A novel candidate dosage-sensitive gene for premature ovarian insufficiency
3. Prenatal diagnosis of a 15q24.1 microdeletion in a fetus with cerebral and urogenital abnormalities.
4. Shifting the landscape: Dominant C‐terminal rare missense FOXL2 variants in non‐syndromic primary ovarian failure etiology
5. Optical genome mapping enables constitutional chromosomal aberration detection
6. Étude nationale prospective évaluant les performances de la cartographie optique et du séquençage long read dans la détection des variations de structure, CHROMAPS
7. Double chromosomal translocation in an infertile man: one-step FISH meiotic segregation analysis and reproductive prognosis
8. Altered three-dimensional organization of sperm genome in DPY19L2-deficient globozoospermic patients
9. A Rare Chromosome Rearrangement Leading to de la Chapelle Syndrome with a Mosaic 45,X Cell Line: (46,X,psu dic(X;Y)(p22.13;q11.221)/45,X/45,psu dic(X;Y)(p22.13;q11.221)
10. Two novel variations p.( Ser1275Thr ) and p.( Ser1275Arg ) inFLT4causing prenatal hereditary lymphedema type 1
11. 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients
12. Evidence for high breakpoint variability in 46, XX, SRY‐positive testicular disorder and frequent ARSE deletion that may be associated with short stature
13. Place de la cartographie optique du génome dans la détection des anomalies chromosomiques équilibrées et déséquilibrées
14. Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1
15. IFN-α and CD46 stimulation are associated with active lupus and skew natural T regulatory cell differentiation to type 1 regulatory T (Tr1) cells
16. Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1.
17. 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
18. A Rare Chromosome Rearrangement Leading to de la Chapelle Syndrome with a Mosaic 45,X Cell Line: (46,X,psu dic(X;Y)(p22.13;q11.221)/45,X/45,psu dic(X;Y)(p22.13;q11.221).
19. Sperm FISH analysis in two healthy infertile brothers with t(15;18) unbalanced translocation: Implications for genetic counselling and reproductive management
20. Unusual isochromosome 5p marker chromosome
21. Neonatal Silver-Russell Syndrome With Maternal Uniparental Heterodisomy, Trisomy 7 Mosaicism, and Dysplasia of the Cerebellum
22. Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl
23. Optical genome mapping enables constitutional chromosomal aberration detection: proof-of-principle study with 85 samples
24. Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization
25. Liste des auteurs
26. Retard de croissance intra-utérin et anomalies chromosomiques
27. First Reported Case of Interstitial 15 Q15.3-Q21.3 Deletion Diagnosed Prenatally and Characterized With Array Cgh in A Fetus With An Isolated Short Femur
28. Inherited interstitial 16q21 deletion of 5.8Mb without apparent phenotypic effect in three generations of a family: An array-CGH study
29. Next generation cytogenetics: genome-imaging enables comprehensive structural variant detection for 100 constitutional chromosomal aberrations in 85 samples
30. Molecular Cytogenetic Characterization of the First Reported Case of Inv Dup Del 20p Compatible With a U-Type Exchange Model
31. Two cases of mosaicism for complex chromosome rearrangements (CCRM) associated with secondary infertility
32. Maternal serum screening in cases of mosaic and translocation Down syndrome
33. Optimized criteria for using fluorescence in situ hybridization in the prenatal diagnosis of common aneuploidies
34. First reported case of intrachromosomal cryptic inv dup del Xp in a boy with developmental retardation
35. Non-random, individual-specific methylation profiles are present at the sixth CTCF binding site in the human H19/IGF2 imprinting control region
36. De novo quantitative bisulfite sequencing using the pyrosequencing technology
37. Unexpected Angelman syndrome molecular defect in a girl displaying clinical features of Prader-Willi syndrome
38. Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non‐homologous Robertsonian translocation. Should we still perform prenatal diagnosis?
39. Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders
40. In vitro proliferation and differentiation of erythroid progenitors from patients with myelodysplastic syndromes: evidence for Fas-dependent apoptosis
41. eP406 - Optical genome mapping enables constitutional chromosomal aberration detection: proof-of-principle study with 85 samples
42. Paradoxical Improvement of Schizophrenic Symptoms by a Dopaminergic Agonist: An Example of Personalized Psychiatry in a Copy Number Variation–Carrying Patient
43. Altered three-dimensional organization of sperm genome in DPY19L2-deficient globozoospermic patients
44. 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations
45. Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome
46. A framework to identify modifier genes in patients with Phelan-McDermid syndrome
47. Could Digital PCR Be an Alternative as a Non-Invasive Prenatal Test for Trisomy 21: A Proof of Concept Study
48. A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed inWACmutations and strengthens the role ofWACin intellectual disability and behavior disorders
49. Unusual isochromosome 5p marker chromosome
50. Chapitre 11 - Retard de croissance intra-utérin et anomalies chromosomiques
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