277 results on '"Giurgea, Irina"'
Search Results
2. Role of non-invasive methods in detecting liver impairment in familial Mediterranean fever adult patients with persistent hepatic cytolysis
3. NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations
4. Somatic Mosaic NLRP3 Mutations and Inflammasome Activation in Late-Onset Chronic Urticaria
5. Mowat Wilson syndrome and Hirschsprung disease: a retrospective study on functional outcomes
6. Expanding the phenotype of the X-linked BCOR microphthalmia syndromes
7. SHH medulloblastoma in a young adult with a TCF4 germline pathogenic variation
8. RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann–Steiner Syndrome
9. Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome
10. A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammation
11. Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing
12. De Novo Gain‐Of‐Function Variations inLYNAssociated With an Early‐Onset Systemic Autoinflammatory Disorder
13. RNF213-associated urticarial lesions with hypercytokinemia
14. De novo gain‐of‐function variations in LYN lead to an early onset systemic autoinflammatory disorder
15. The recurrentTCF4missense variant p.( Arg389Cys ) causes a neurodevelopmental disorder overlapping with but not typical for Pitt‐Hopkins syndrome
16. Identification of an A20 critical region harboring missense variations that lead to autoinflammation
17. A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammation.
18. Absence of NLRP3 somatic mutations and VEXAS ‐related UBA1 mutations in a large cohort of patients with Schnitzler syndrome
19. Mosaic variants in TNFRSF1A: an emerging cause of tumour necrosis factor receptor-associated periodic syndrome
20. ZEB2 and Mowat-Wilson Syndrome
21. Autoinflammation liée à l’haploinsuffisance A20 : identification et caractérisation fonctionnelle de nouveaux variants A20
22. The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome
23. uORF-creating mutations in Van der Woude syndrome: why it is important to study 5’UTRs
24. Identification et caractérisation fonctionnelle de mutations de lyn dans une urticaire auto-inflammatoire syndromique
25. AA amyloidosis complicating cryopyrin-associated periodic syndrome: a study of 86 cases including 23 French patients and systematic review
26. De Novo Gain‐Of‐Function Variations in LYN Associated With an Early‐Onset Systemic Autoinflammatory Disorder.
27. Mosaic variants in TNFRSF1A: an emerging cause of tumour necrosis factor receptor-associated periodic syndrome.
28. Lésions urticariennes chroniques associées à une hypercytokinémie massive : une nouvelle maladie mendélienne
29. Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C
30. Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy
31. Chronic hepatic involvement in the clinical spectrum of A20 haploinsufficiency
32. Association between familial Mediterranean fever and multiple sclerosis: A case series from the JIR cohort and systematic literature review
33. Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4
34. Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders
35. Tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS)-related AA amyloidosis: a national case series and systematic review
36. “ Helicobacter pylori in familial mediterranean fever: A series of 120 patients from literature and from france”
37. ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat–Wilson syndrome
38. KBP–cytoskeleton interactions underlie developmental anomalies in Goldberg–Shprintzen syndrome
39. High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome
40. Novel comprehensive diagnostic strategy in Pitt–Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum
41. AA amyloidosis revealing mevalonate kinase deficiency: A report of 20 cases including two new French cases and a comprehensive review of literature
42. Fast diagnostic test for familial Mediterranean fever based on a kinase inhibitor
43. Typical Familial Mediterranean Fever associated with the heterozygous missense sequence p.T577N variant of the MEFV gene: Report on two Northern European Caucasians relatives in France
44. Response to Letter to the Editor
45. TCF4 Deletions in Pitt-Hopkins Syndrome
46. The NLRP3 p.A441V mutation in cryopyrin-associated periodic syndrome pathogenesis: functional consequences, phenotype-genotype correlations and evidence for a founder effect
47. Expression des gènes SAA par les monocytes et macrophages humains
48. Expression of SAA1, SAA2 and SAA4 genes in human primary monocytes and monocyte-derived macrophages
49. The Knudson’s Two-Hit Model and Timing of Somatic Mutation May Account for the Phenotypic Diversity of Focal Congenital Hyperinsulinism
50. Congenital Hyperinsulinism: Pancreatic [18F]Fluoro-l-Dihydroxyphenylalanine (DOPA) Positron Emission Tomography and Immunohistochemistry Study of DOPA Decarboxylase and Insulin Secretion
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