43 results on '"Donovan, Frank X."'
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2. FANCA c.3624C>T (p.Ser1208=) is a hypomorphic splice variant associated with delayed onset of Fanconi anemia
3. Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B
4. Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer
5. Studies of a mosaic patient with DBA and chimeric mice reveal erythroid cell–extrinsic contributions to erythropoiesis
6. Association of clinical severity with FANCB variant type in Fanconi anemia
7. Genomic Landscape of Patients with Germline RUNX1 Variants and Familial Platelet Disorder with Myeloid Malignancy
8. iPSCs and fibroblast subclones from the same fibroblast population contain comparable levels of sequence variations
9. FANCAc.3624C>T (p.Ser1208=) is a hypomorphic splice variant associated with delayed onset of Fanconi anemia
10. Differential regulation of Retinoic Acid Metabolism in Fanconi Anemia
11. Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN
12. One in four individuals of African-American ancestry harbors a 5.5 kb deletion at chromosome 11q13.1
13. A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families
14. Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia
15. Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50
16. Low Incidence of DNA Sequence Variation in Human Induced Pluripotent Stem Cells Generated by Nonintegrating Plasmid Expression
17. Abstract 6196: Fanconi anemia pathway deficiency drives copy number variation in squamous cell carcinoma
18. ALDH9A1 Deficiency as a Source of Endogenous DNA Damage that Requires Repair by the Fanconi Anemia Pathway
19. Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia
20. The Loss of ALDH9A1 Is a Significant Source of Endogenous DNA Damage Which May be Reversed By the Inhibition of Polyamine Transport System
21. Fanconi Anemia Pathway Deficiency Drives Copy Number Variation in Squamous Cell Carcinomas
22. Comprehensive Analysis of Pathogenic Deletion Variants in Fanconi Anemia Genes
23. Pathogenic germline IKZF1 variant alters hematopoietic gene expression profiles
24. The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature
25. Five Novel Deleterious Variants in FANCA, FANCF and FANCG Identified in Pakistani Fanconi Anemia Families Using Exome Sequencing
26. A founder variant in the South Asian population leads to a high prevalence ofFANCLFanconi anemia cases in India
27. Clinical severity in Fanconi anemia correlates with residual function of FANCB missense variants
28. Clinical Severity Correlates with in Vitro Residual Function of FANCB Missense Variants
29. Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia
30. Somatic mosaicism of an intragenicFANCBduplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype
31. A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families
32. Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation
33. A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India.
34. Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening
35. One in Four Individuals of African-American Ancestry Harbors a 5.5kb Deletion at chromosome 11q13.1
36. Somatic mosaicism of an intragenic <italic>FANCB</italic> duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.
37. Somatic Mutational Landscape of AML with Inv(16) and t(8;21) Identifies Two Distinct Patterns in Relapse Tumors
38. Regulation of Alr1 Mg Transporter Activity by Intracellular Magnesium
39. Somatic mutational landscape of AML with inv(16) or t(8;21) identifies patterns of clonal evolution in relapse leukemia
40. Clinical Severity Correlates with in VitroResidual Function of FANCBMissense Variants
41. Differential Regulation of Retinoic Acid Metabolism in Fanconi Anemia.
42. Pathogenic germline IKZF1 variant alters hematopoietic gene expression profiles.
43. Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.
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