124 results on '"Zepeda-Mendoza, Cinthya"'
Search Results
2. Prospective evaluation of genome sequencing to compare conventional cytogenetics in acute myeloid leukemia
3. Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG)
4. Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
5. Disparity in the detection of chromosome 15 centromere in patients of African ancestry with a plasma cell neoplasm
6. Abstract P06: Characterization of the Immune Tumor Microenvironment in a Diverse Cohort of Patients with Multiple Myeloma
7. Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements
8. Genomic disorders in the genomics era
9. List of contributors
10. Genomic sequencing of rare diseases
11. Superior detection rate of plasma cell FISH using FACS-FISH
12. OA-16 The rs9344 G risk allele upregulates CCND1 expression through t(11;14) and PAX5 in multiple myeloma
13. Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
14. Myeloid malignancies with 5q and 7q deletions are associated with extreme genomic complexity, biallelic TP53 variants, and very poor prognosis
15. Superior detection rate of plasma cell FISH using FACS-FISH.
16. Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin
17. Functional variant rs9344 at 11q13.3 regulates CCND1expression in multiple myeloma with t(11;14)
18. H3 G34 mutation assessment for diffuse gliomas in adults: when would testing be most diagnostically useful?
19. Editorial: Chromosome structural variants: Epidemiology, identification and contribution to human diseases
20. Characterization of unusual iAMP21 B‐lymphoblastic leukemia ( iAMP21‐ALL ) from the Mayo Clinic and Children's Oncology Group
21. Molecular characterization and reclassification of a 1.18 Mbp DMD duplication following positive carrier screening for Duchenne/Becker muscular dystrophy
22. The Prognostic Role of MYC Structural Variants Identified by NGS and FISH in Multiple Myeloma
23. Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome
24. Prenatal characterization of a novel inverted SMAD2 duplication by mate pair sequencing in a fetus with dextrocardia
25. Molecular characterization and reclassification of a 1.18Mbp DMD duplication following positive carrier screening for Duchenne/Becker Muscular Dystrophy
26. Clinical Value of Next Generation Sequencing in the Detection of Recurring Structural Rearrangements and Copy Number Abnormalities in Acute Myeloid Leukemia
27. Concomitant 1p/19q co-deletion and IDH1/2, ATRX, and TP53 mutations within a single clone of “dual-genotype” IDH-mutant infiltrating gliomas
28. Editorial: Chromosome structural variants: Epidemiology, identification and contribution to human diseases.
29. An intragenic duplication of TRPS1 leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I
30. Familial segregation of a 5q15‐q21.2 deletion associated with facial dysmorphism and speech delay
31. 8. Mate pair sequencing characterization of 5q/7q co-deleted acute myeloid leukemia: a prospective study to discover novel co-abnormalities in complex karyotypes
32. The Iceberg under Water: Unexplored Complexity of Chromoanagenesis in Congenital Disorders
33. Corrigendum: Loss of LDAH associated with prostate cancer and hearing loss
34. Identical repeated backbone of the human genome
35. Prenatal characterization of a novel inverted SMAD2 duplication by mate pair sequencing in a fetus with dextrocardia.
36. PATH-24. RECURRENT UNUSUAL PATTERNS IN CLINICAL MOLECULAR PROFILING OF ADULT DIFFUSE GLIOMAS
37. Loss of LDAH associated with prostate cancer and hearing loss
38. Computational Prediction of Position Effects of Human Chromosome Rearrangements
39. Additional file 1: Figure S1. of Quantitative analysis of chromatin interaction changes upon a 4.3 Mb deletion at mouse 4E2
40. Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay
41. Quantitative analysis of chromatin interaction changes upon a 4.3 Mb deletion at mouse 4E2
42. Quantitative analysis of chromatin interaction changes upon a 4.3 Mb deletion at mouse 4E2
43. Quantitative analysis of chromatin interaction changes upon a 4.3 Mb deletion at mouse 4E2
44. Transient Pairing of Homologous Oct4 Alleles Accompanies the Onset of Embryonic Stem Cell Differentiation
45. Updated recommendations for CFTRcarrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG)
46. Role of SWI/SNF in acute leukemia maintenance and enhancer-mediated Myc regulation
47. Identical repeated backbone of the human genome
48. Transient Pairing of Homologous Oct4Alleles Accompanies the Onset of Embryonic Stem Cell Differentiation
49. Role of SWI/SNF in acute leukemia maintenance and enhancer-mediated Myc regulation.
50. 58. Myeloma FISH - Lessons learned from a panel redesign.
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