431 results on '"Prior, Thomas W."'
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2. Molecular landscape and prognostic impact of FLT3-ITD insertion site in acute myeloid leukemia: RATIFY study results
3. Midostaurin reduces relapse in FLT3-mutant acute myeloid leukemia: the Alliance CALGB 10603/RATIFY trial
4. Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment
5. Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype
6. Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative
7. Supplementary Table 1 from Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer Patients
8. Data from Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer Patients
9. Supplementary Table 2 from Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer Patients
10. Neuromuscular Diseases
11. Clinical SMN1 and SMN2 Gene-Specific Sequencing to Enhance the Clinical Sensitivity of Spinal Muscular Atrophy Diagnostic Testing.
12. Clinical trial of L‐Carnitine and valproic acid in spinal muscular atrophy type I
13. Natural history of infantile‐onset spinal muscular atrophy
14. Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
15. Neuromuscular Diseases
16. inv(16)/t(16;16) acute myeloid leukemia with non–type A CBFB-MYH11 fusions associate with distinct clinical and genetic features and lack KIT mutations
17. Spinal Muscular Atrophy: Newborn and Carrier Screening
18. Molecular landscape and prognostic impact of FLT3-ITD insertion site in acute myeloid leukemia: RATIFY study results
19. Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance
20. Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A Genetic Testing Reference Materials Coordination Program Collaborative Project
21. Technical standards and guidelines for spinal muscular atrophy testing
22. Consensus Characterization of 16 FMR1 Reference Materials: A Consortium Study
23. SMA valiant trial: A prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy
24. Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation
25. A positive modifier of spinal muscular atrophy in the SMN2 gene
26. Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing
27. Duplication of the Xq27.3–q28 region, including the FMR1 gene, in an X-linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome
28. Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis
29. Somatic acquisition and signaling of TGFBR1*6A in cancer
30. Screening for the lynch syndrome (hereditary nonpolyposis colorectal cancer)
31. Opposite association of two PPARG variants with cancer: overrepresentation of H449H in endometrial carcinoma cases and underrepresentation of P12A in renal cell carcinoma cases
32. Detection of Common Disease-Causing Mutations in Mitochondrial DNA (Mitochondrial Encephalomyopathy, Lactic Acidosis with Stroke-Like Episodes MTTL1 3243 A>G and Myoclonic Epilepsy Associated with Ragged-Red Fibers MTTK 8344A>G) by Real-Time Polymerase Chain Reaction
33. Mutation Screening in Juvenile Polyposis Syndrome
34. Neuromuscular Diseases
35. Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan–Riley–Ruvalcaba syndrome clinical features
36. SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction
37. Impaired myocardial perfusion reserve and fibrosis in Friedreich ataxia: a mitochondrial cardiomyopathy with metabolic syndrome
38. Cytogenetic and molecular diagnostic testing associated with prenatal and postnatal birth defects
39. Impact of NPM1/FLT3-ITD genotypes defined by the 2017 European LeukemiaNet in patients with acute myeloid leukemia
40. A case report of genetic prion disease with two different PRNP variants
41. Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization
42. Outcome measures in a cohort of ambulatory adults with spinal muscular atrophy
43. Newborn and carrier screening for spinal muscular atrophy
44. Impact of Age and Motor Function in a Phase 1/2A Study of Infants With SMA Type 1 Receiving Single-Dose Gene Replacement Therapy
45. Experience and Strategy for the Molecular Testing of Duchenne Muscular Dystrophy
46. Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly
47. Sphingosine Kinase-1 Expression Correlates With Poor Survival of Patients With Glioblastoma Multiforme: Roles of Sphingosine Kinase Isoforms in Growth of Glioblastoma Cell Lines
48. Myoblast transfer in the treatment of Duchenne's muscular dystrophy
49. Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma
50. Comparison of Cytogenetic and Molecular Genetic Detection of t(8;21) and inv(16) in a Prospective Series of Adults With De Novo Acute Myeloid Leukemia: A Cancer and Leukemia Group B Study
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