144 results on '"Rowsey, Ross A"'
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2. Pediatric-type Myoid Neoplasms of Somatic Soft Tissue: A Clinicopathological and Molecular Genetic Study of 78 Tumors, Highlighting Indolent Clinical Behavior and Frequent SRF Gene Rearrangements
3. A multicenter analysis of individuals with a 47,XXY/46,XX karyotype
4. Single nucleotide polymorphism (SNP) chromosomal microarray as a diagnostic tool for mucinous tubular and spindle cell carcinoma: A validation study
5. Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders
6. Rhabdomyosarcoma Arising in Inflammatory Rhabdomyoblastic Tumor: A Genetically Distinctive Subtype of Rhabdomyosarcoma
7. Laboratory Testing for Prader-Willi Syndrome
8. Single-Nucleotide Polymorphism Array for Histologically Ambiguous Melanocytic Tumors
9. Cytogenetics of spermatocytic tumors with a discussion of gain of chromosome 12p in anaplastic variants
10. Low-Grade Oncocytic Tumor of Kidney (CK7-Positive, CD117-Negative): Incidence in a single institutional experience with clinicopathological and molecular characteristics
11. “Inflammatory Leiomyosarcoma” and “Histiocyte-rich Rhabdomyoblastic Tumor”: a clinicopathological, immunohistochemical and genetic study of 13 cases, with a proposal for reclassification as “Inflammatory Rhabdomyoblastic Tumor”
12. Limited diagnostic impact of duplications
13. Numbers of prenatal cell‐free DNA screens performed: Results of a 2022 CAP exercise
14. Germline mosaicism does not explain the maternal age effect on trisomy
15. A specific family of interspersed repeats (SINEs) facilitates meiotic synapsis in mammals
16. SVAtools for junction detection of genome-wide chromosomal rearrangements by mate-pair sequencing (MPseq)
17. Genomic analysis of spermatocytic tumors demonstrates recurrent molecular alterations in cases with malignant clinical behavior
18. Whole-Genome Single Nucleotide Polymorphism Microarray for Copy Number and Loss of Heterozygosity Analysis in Tumors
19. Characterization of TCF3 rearrangements in pediatric B-lymphoblastic leukemia/lymphoma by mate-pair sequencing (MPseq) identifies complex genomic rearrangements and a novel TCF3/TEF gene fusion
20. Genomic analysis of spermatocytic tumors demonstrates recurrent molecular alterations in cases with malignant clinical behavior.
21. Uniparental disomy of multiple chromosomes in two cases with a complex phenotype
22. Hyperhaploid plasma cell myeloma characterized by poor outcome and monosomy 17 with frequently co-occurring TP53 mutations
23. 16. Uniparental disomy (UPD) of multiple chromosomes in two cases with a complex phenotype
24. Renal Neoplasia in Polycystic Kidney Disease: An Assessment of Tuberous Sclerosis Complex–associated Renal Neoplasia and PKD1/TSC2 Contiguous Gene Deletion Syndrome
25. Morphologic overlap between low-grade oncocytic tumor and eosinophilic variant of chromophobe renal cell carcinoma
26. eP395: Calculating recurrence risk in an individual with an intrachromosomal structural rearrangement
27. OP040: Clinical validation of tagmentation-based genome sequencing for germline disorders
28. Prenatal Diagnosis and Fetal Outcome with Mosaic Genome-Wide Uniparental Disomy
29. 12. Analysis of the clinical utility of mate pair sequencing to further characterize congenital chromosome abnormalities
30. Chromosomal microarray analysis offers superior cytogenomic evaluation of products of conception as compared to standard karyotype
31. Uniparental disomy (UPD) of multiple chromosomes in a newborn with a complex phenotype
32. Identification of a novel t(X;10)(p11.3;q23.1) translocation disrupting MAOB in a patient with severe developmental delay using mate pair sequencing
33. 15. The good, the bad, and the ugly of SNP array testing for cutaneous melanocytic neoplasms
34. Most noninvasive prenatal screens failing due to inadequate fetal cell free DNA are negative for trisomy when repeated
35. Coverage profile correction of shallow-depth circulating cell-free DNA sequencing via multidistance learning
36. Coverage profile correction of shallow-depth circulating cell-free DNA sequencing via multi-distance learning
37. Detection of a cryptic NUP214/ABL1 gene fusion by mate-pair sequencing (MPseq) in a newly diagnosed case of pediatric T-lymphoblastic leukemia
38. eP389 - Identification of a novel t(X;10)(p11.3;q23.1) translocation disrupting MAOB in a patient with severe developmental delay using mate pair sequencing
39. eP364 - Uniparental disomy (UPD) of multiple chromosomes in a newborn with a complex phenotype
40. eP359 - Chromosomal microarray analysis offers superior cytogenomic evaluation of products of conception as compared to standard karyotype
41. Improving Single-Nucleotide Polymorphism-Based Fetal Fraction Estimation of Maternal Plasma Circulating Cell-Free DNA Using Bayesian Hierarchical Models
42. 28. Dosage sensitivity curation of recurrent copy number variant regions
43. 12. Mate pair sequencing: Unveiling underappreciated complexity and providing clarity to the previously unanswered questions of cytogenetics
44. Examining Variation in Recombination Levels in the Human Female: A Test of the Production-Line Hypothesis
45. Utilization of Mate-Pair Sequencing to Characterize Complex and Novel TCF3 Translocations
46. Getting to Know Your LCRs: Recognizing and Interpreting Atypical CNVs in Recurrent Syndromic Microdeletion/Duplication Regions Mediated by Alternative Low Copy Repeat Elements
47. Interpreting Complex SNP-Array Results in Tumors: Clues Invoking Classical Cytogenetic Mechanisms
48. Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders
49. ALDH Enzyme Expression Is Independent of the Spermatogenic Cycle, and Their Inhibition Causes Misregulation of Murine Spermatogenic Processes1
50. Whole-Genome Mate Pair Sequencing Reflex Test to Characterize Chromosome Rearrangements in Hematologic Neoplasia
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