40 results on '"Whatley, Sharon D."'
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2. X-linked protoporphyria: Iron supplementation improves protoporphyrin overload, liver damage and anaemia
3. Clinical and Molecular Epidemiology of the Porphyrias
4. C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload
5. The Porphyrias and Other Disorders of Porphyrin Metabolism
6. Contributors
7. 41 - Porphyrins and the porphyrias
8. Textbook Contributors
9. Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene
10. Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations
11. Symptomatic response of erythropoietic protoporphyria to iron supplementation
12. NTNG1 mutations are a rare cause of Rett syndrome
13. 39 - Porphyrins and the Porphyrias
14. Late-Onset Erythropoietic Porphyria Caused by a Chromosome 18q Deletion in Erythroid Cells
15. Co-Inheritance of Mutations in the Uroporphyrinogen Decarboxylase and Hemochromatosis Genes Accelerates the Onset of Porphyria Cutanea Tarda
16. Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda
17. CAPÍTULO 29 - Porfirinas e Porfirias
18. Characterization of Mutations in the CPO Gene in British Patients Demonstrates Absence of Genotype-Phenotype Correlation and Identifies Relationship between Hereditary Coproporphyria and Harderoporphyria
19. Contributors
20. X‐linked protoporphyria: Iron supplementation improves protoporphyrin overload, liver damage and anaemia
21. Colaboradores
22. Pseudoexon Activation in the HMBS Gene as a Cause of the Nonerythroid Form of Acute Intermittent Porphyria
23. Erythropoietic Uroporphyria Associated with Myeloid Malignancy Is Likely Distinct from Autosomal Recessive Congenital Erythropoietic Porphyria
24. Diagnostic Strategies for Autosomal Dominant Acute Porphyrias: Retrospective Analysis of 467 Unrelated Patients Referred for Mutational Analysis of the HMBS, CPOX, or PPOX Gene
25. Seasonal Palmar Keratoderma in Erythropoietic Protoporphyria Indicates Autosomal Recessive Inheritance
26. Gene Dosage Analysis Identifies Large Deletions of the FECH Gene in 10% of Families with Erythropoietic Protoporphyria
27. Exonic deletions as a cause of erythropoietic protoporphyria
28. NTNG1mutations are a rare cause of Rett syndrome
29. Photosensitivity and acute liver injury in myeloproliferative disorder secondary to late-onset protoporphyria caused by deletion of a ferrochelatase gene in hematopoietic cells
30. Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype–phenotype associations in Rett syndrome
31. Early onset seizures and Rett-like features associated with mutations in CDKL5
32. Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls
33. Late-Onset Erythropoietic Porphyria Caused by a Chromosome 18q Deletion in Erythroid Cells
34. Variegate Porphyria in Western Europe: Identification of PPOX Gene Mutations in 104 Families, Extent of Allelic Heterogeneity, and Absence of Correlation between Phenotype and Type of Mutation
35. Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23
36. Seasonal Palmar Keratoderma in Erythropoietic Protoporphyria Indicates Autosomal Recessive Inheritance.
37. Molecular characterization of homozygous variegate porphyria.
38. Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls.
39. Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls.
40. Acute Intermittent Porphyria
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