110 results on '"Miano, Maria Giuseppina"'
Search Results
2. Suberoylanilide Hydroxamic Acid (SAHA) Is a Driver Molecule of Neuroplasticity: Implication for Neurological Diseases
3. A Novel Splicing SCN2A Mutation in an Adolescent With Low-Functioning Autism, Acute Dystonic Movement Disorder, and Late-Onset Generalized Epilepsy
4. Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants
5. The Chromatin-Oxygen Sensor Gene KDM5C Associates with Novel Hypoxia-Related Signatures in Glioblastoma Multiforme
6. Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability
7. Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy
8. Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures
9. Insight into IKBKG/NEMO Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease
10. A reliable strategy for single-cell RNA sequencing analysis using cryoconserved primary cortical cells
11. Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms
12. Genetic and molecular analysis of a new unbalanced X;18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region
13. Preservation of neurons in an AD 79 vitrified human brain
14. DNA Hypermethylation and Unstable Repeat Diseases: A Paradigm of Transcriptional Silencing to Decipher the Basis of Pathogenic Mechanisms
15. Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders
16. Microdeletion/Duplication at the Xq28 IP Locus Causes a De Novo IKBKG/NEMO/IKKgamma exon4_10 Deletion in Families with Incontinentia Pigmenti
17. Alterations of the IKBKG Locus and Diseases: An Update and a Report of 13 Novel Mutations
18. P37. Analysis of cortical gene expression variability in a mouse model of x-linked infantile spams syndrome
19. Heterozygosity mapping by quantitative fluorescent PCR reveals an interstitial deletion in Xq26.2–q28 associated with ovarian dysfunction
20. Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders
21. Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-κB activation
22. Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity
23. Ocular signs associated with a rhodopsin mutation (Cys-167→Arg) in a family with autosomal dominant retinitis pigmentosa
24. Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness
25. Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with Incontinentia Pigmenti
26. Insight intoIKBKG/NEMOLocus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease
27. A Regulatory Path Associated with X-Linked Intellectual Disability and Epilepsy Links KDM5C to the Polyalanine Expansions in ARX
28. Molecular Genetics of Incontinentia Pigmenti
29. Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms
30. The LCR at the IKBKG Locus Is Prone to Recombine
31. MRX87 family with Aristaless Xdup24bp mutation and implication for polyAlanine expansions
32. Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report
33. Multiple regulatory regions and tissue-specific transcription initiation mediate the expression of NEMO/IKKγ gene
34. Heterozygosity mapping by quantitative fluorescent PCR reveals an interstitial deletion in Xq26.2–q28 associated with ovarian dysfunction
35. Mapping of MRX81 in Xp11.2-Xq12 suggests the presence of a new gene involved in nonspecific X-linked mental retardation
36. Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa
37. Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains
38. Insight into IKBKG/ NEMO Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease.
39. Human and mouse SYBL1 gene structure and expression
40. Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa
41. Complete congenital stationary night blindness maps on Xp11.4 in a Sardinian family
42. Construction of a pilot human YAC library in a recombination-defective yeast strain
43. The highly malignant phenotype of anaplastic thyroid carcinoma cell lines is recessive.
44. Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity.
45. Ocular signs associated with a rhodopsin mutation (Cys-167 → Arg) in a family with autosomal dominant retinitis pigmentosa.
46. Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants
47. Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders
48. Heterozygosity mapping by quantitative fluorescent PCR reveals an interstitial deletion in Xq26.2-q28 associated with ovarian dysfunction
49. Mapping of MRX81 in Xp11.2-Xq12 suggests the presence of a new gene involved in nonspecific X-linked mental retardation
50. MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.
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