527 results on '"Söderkvist, Peter"'
Search Results
2. The HLA region in ANCA-associated vasculitis: characterisation of genetic associations in a Scandinavian patient population.
3. X-chromosome variants are associated with aldosterone producing adenomas
4. ABCB1 single-nucleotide variants and survival in patients with glioblastoma treated with radiotherapy concomitant with temozolomide
5. Evolution of DNA repair defects during malignant progression of low-grade gliomas after temozolomide treatment
6. Domain landscapes of somatic NF1 mutations in pheochromocytoma and paraganglioma
7. Activating FGFR1 Mutations in Sporadic Pheochromocytomas
8. Nuclear and mitochondrial DNA alterations in pheochromocytomas and paragangliomas, and their potential treatment
9. Molecular Profiling of Pheochromocytoma and Abdominal Paraganglioma Stratified by the PASS Algorithm Reveals Chromogranin B as Associated With Histologic Prediction of Malignant Behavior
10. Polymorphisms in CARD8 and NLRP3 are associated with extrapulmonary TB and poor clinical outcome in active TB in Ethiopia
11. Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease.
12. Case report: Two sisters with a germline CHEK2 variant and distinct endocrine neoplasias
13. Methylation associated with long- or short-term survival in glioblastoma patients from the Nordic phase 3 trial
14. Glucocerebrosidase variant T369M is not a risk factor for Parkinson’s disease in Sweden
15. YAP1 is a potential biomarker for cetuximab resistance in head and neck cancer
16. Human Gene Variants Linked to Enhanced NLRP3 Activity Limit Intramacrophage Growth of Mycobacterium tuberculosis
17. Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison’s disease in Sweden
18. S100B polymorphisms are associated with age of onset of Parkinson’s disease
19. Genetic Alterations in Mitochondrial DNA Are Complementary to Nuclear DNA Mutations in Pheochromocytomas
20. Loss of SDHB Induces a Metabolic Switch in the hPheo1 Cell Line toward Enhanced OXPHOS
21. Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention
22. Immunohistochemical NF1 Analysis Does not Predict NF1 Gene Mutation Status in Pheochromocytoma
23. Genetic Alterations in Mitochondrial DNA Are Complementary to Nuclear DNA Mutations in Pheochromocytomas
24. Identification and functional characterization of a novel susceptibility locus for small vessel vasculitis with MPO-ANCA
25. Role of SDHAF2 and SDHD in von Hippel–Lindau Associated Pheochromocytomas
26. Association of Protective HLA-A With HLA-B∗27 Positive Ankylosing Spondylitis
27. Telomerase reverse transcriptase mutation and the p53 pathway in T1 urinary bladder cancer
28. TP53 mutations and MDM2SNP309 identify subgroups of AML patients with impaired outcome
29. Genetic and clinical basis for two distinct subtypes of primary Sjögren's syndrome
30. Strong association between glucocerebrosidase mutations and Parkinson's disease in Sweden
31. Increased diagnostic sensitivity of palpation‐guided thyroid nodule fine‐needle aspiration cytology by BRAF V600E ‐mutation analysis
32. Autosomal recessive congenital hereditary corneal dystrophy associated with a novel SLC4A11 mutation in two consanguineous Tunisian families
33. Activation of RAS Signalling is Associated with Altered Cell Adhesion in Phaeochromocytoma
34. Glutathione S-transferase M1 null genotype as a risk modifier for solvent-induced chronic toxic encephalopathy
35. PIK3CA, HRAS and KRAS Gene Mutations in Human Penile Cancer
36. Rare Germline Mutations Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma
37. A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1
38. Telomerase reverse transcriptase mutation and the p53 pathway in T1 urinary bladder cancer.
39. Deletions on Chromosome Y and Downregulation of the SRY Gene in Tumor Tissue Are Associated with Worse Survival of Glioblastoma Patients
40. Sex Disparities in MGMT Promoter Methylation and Survival in Glioblastoma: Further Evidence from Clinical Cohorts
41. Exploring the two-gene ratio in breast cancer—independent roles for HOXB13 and IL17BR in prediction of clinical outcome
42. Proposal of the first MSc in Genetic Counselling in Sweden
43. SLC7A9 cDNA cloning and mutational analysis of SLC3A1 and SLC7A9 in canine cystinuria
44. Urinary excretion of total cystine and the dibasic amino acids arginine, lysine and ornithine in relation to genetic findings in patients with cystinuria treated with sulfhydryl compounds
45. Real-time RT-PCR methodology for quantification of thiopurine methyltransferase gene expression
46. Germline SDHA Mutation Detected by Next-Generation Sequencing in a Young Index Patient With Large Paraganglioma
47. Frequent mutations of the Trp53, Hras1 and β-catenin (Catnb) genes in 1,3-butadiene-induced mammary adenocarcinomas in B6C3F1 mice
48. Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas
49. Genetic support for the role of the NLRP3 inflammasome in psoriasis susceptibility
50. Genetic variation and alterations of genes involved in NFκB/TNFAIP3- and NLRP3-inflammasome signaling affect susceptibility and outcome of colorectal cancer
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