53 results on '"Dupont, Jean-Michel"'
Search Results
2. 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)
3. Two novel variations p.( Ser1275Thr ) and p.( Ser1275Arg ) inFLT4causing prenatal hereditary lymphedema type 1
4. 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients
5. An unusual familial Xp22.12 microduplication including EIF1AX: A novel candidate dosage-sensitive gene for premature ovarian insufficiency
6. Evidence for high breakpoint variability in 46, XX, SRY‐positive testicular disorder and frequent ARSE deletion that may be associated with short stature
7. Place de la cartographie optique du génome dans la détection des anomalies chromosomiques équilibrées et déséquilibrées
8. Optical genome mapping enables constitutional chromosomal aberration detection
9. Optical genome mapping enables constitutional chromosomal aberration detection: proof-of-principle study with 85 samples
10. Liste des auteurs
11. Retard de croissance intra-utérin et anomalies chromosomiques
12. Next generation cytogenetics: genome-imaging enables comprehensive structural variant detection for 100 constitutional chromosomal aberrations in 85 samples
13. Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization
14. 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?
15. Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders
16. Double chromosomal translocation in an infertile man: one-step FISH meiotic segregation analysis and reproductive prognosis
17. Altered three-dimensional organization of sperm genome in DPY19L2-deficient globozoospermic patients
18. 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations
19. Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome
20. A framework to identify modifier genes in patients with Phelan-McDermid syndrome
21. Paradoxical Improvement of Schizophrenic Symptoms by a Dopaminergic Agonist: An Example of Personalized Psychiatry in a Copy Number Variation–Carrying Patient
22. Could Digital PCR Be an Alternative as a Non-Invasive Prenatal Test for Trisomy 21: A Proof of Concept Study
23. A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed inWACmutations and strengthens the role ofWACin intellectual disability and behavior disorders
24. Physiopathologie des aneuploïdies : conséquences du déséquilibre chromosomique sur l’organisation nucléaire et l’expression globale du génome
25. Unusual isochromosome 5p marker chromosome
26. Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1
27. 3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome
28. Neonatal Silver-Russell Syndrome With Maternal Uniparental Heterodisomy, Trisomy 7 Mosaicism, and Dysplasia of the Cerebellum
29. Complex mosaicCDKL5deletion with two distinct mutant alleles in a 4-year-old girl
30. Atypical presentations of 22q11.2 deletion syndrome: explaining the genetic defects and genome architecture
31. 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
32. IFN-α and CD46 stimulation are associated with active lupus and skew natural T regulatory cell differentiation to type 1 regulatory T (Tr1) cells
33. Inherited interstitial 16q21 deletion of 5.8 Mb without apparent phenotypic effect in three generations of a family: An array‐CGH study
34. Methylation of specific CpG sites in the P2 promoter ofparathyroid hormone-related proteindetermines the invasive potential of breast cancer cell lines
35. Sperm FISH analysis in two healthy infertile brothers with t(15;18) unbalanced translocation: Implications for genetic counselling and reproductive management
36. Specific epigenetic alterations of IGF2-H19 locus in spermatozoa from infertile men
37. Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U-type exchange model
38. Two cases of mosaicism for complex chromosome rearrangements (CCRM) associated with secondary infertility
39. Optimized criteria for using fluorescence in situ hybridization in the prenatal diagnosis of common aneuploidies
40. Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome
41. B5-06: Mature results of PulmonArt: Involved-field 3D radiotherapy (RT) and docetaxel/cisplatin chemotherapy (CT) in a randomised phase 2 study comparing concurrent CT-RT followed by consolidation CT, with induction CT followed by concurrent CT-RT in patients (pts) with stage III non-small cell lung cancer (NSCLC)
42. First reported case of intrachromosomal cryptic inv dup del Xp in a boy with developmental retardation
43. Pure familial 6q21q22.1 duplication in two generations
44. Non-random, individual-specific methylation profiles are present at the sixth CTCF binding site in the human H19/IGF2 imprinting control region
45. De novo quantitative bisulfite sequencing using the pyrosequencing technology
46. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome
47. Rapid prenatal diagnosis of Down syndrome using quantitative fluorescencein situ hybridization on interphase nuclei
48. Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver-Russell patient
49. In vitro proliferation and differentiation of erythroid progenitors from patients with myelodysplastic syndromes: evidence for Fas-dependent apoptosis
50. Sonographic Measurement of the Fetal Iliac Angle Cannot Be Used Alone as a Marker for Trisomy 21
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