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158 results on '"Giurgea, Irina"'

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2. Somatic Mosaic NLRP3 Mutations and Inflammasome Activation in Late-Onset Chronic Urticaria

3. Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

5. A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammation

7. De Novo Gain‐Of‐Function Variations inLYNAssociated With an Early‐Onset Systemic Autoinflammatory Disorder

8. De novo gain‐of‐function variations in LYN lead to an early onset systemic autoinflammatory disorder

9. The recurrentTCF4missense variant p.( Arg389Cys ) causes a neurodevelopmental disorder overlapping with but not typical for Pitt‐Hopkins syndrome

11. Mosaic variants in TNFRSF1A: an emerging cause of tumour necrosis factor receptor-associated periodic syndrome

12. AA amyloidosis complicating cryopyrin-associated periodic syndrome: a study of 86 cases including 23 French patients and systematic review

13. De Novo Gain‐Of‐Function Variations in LYN Associated With an Early‐Onset Systemic Autoinflammatory Disorder.

14. Mosaic variants in TNFRSF1A: an emerging cause of tumour necrosis factor receptor-associated periodic syndrome.

15. The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt‐Hopkins syndrome.

16. Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C

18. Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4

19. Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders

20. Tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS)-related AA amyloidosis: a national case series and systematic review

21. High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome

22. Response to Letter to the Editor

23. Expression of SAA1, SAA2 and SAA4 genes in human primary monocytes and monocyte-derived macrophages

25. Congenital Hyperinsulinism: Pancreatic [18F]Fluoro-l-Dihydroxyphenylalanine (DOPA) Positron Emission Tomography and Immunohistochemistry Study of DOPA Decarboxylase and Insulin Secretion

28. Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement

31. The NLRP3 p.A441V Mutation in NLRP3 ‐AID Pathogenesis: Functional Consequences, Phenotype‐Genotype Correlations and Evidence for a Recurrent Mutational Event

32. Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement

33. Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

34. Mowat-Wilson syndrome in a Moroccan consanguineous family

36. Impact of human monocyte and macrophage polarization on NLR expression and NLRP3 inflammasome activation

37. SALL4 and NFATC2: two major actors of interstitial 20q13.2 duplication.: Genotype-phenotype relevance in 20q13.2 gain

39. A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice

40. Hyperinsulinemic hypoglycemia in children

41. Disease-causing variants in TCF4are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

42. Molecular and cellular issues of KMT2Avariants involved in Wiedemann-Steiner syndrome

43. Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11

44. Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion

45. Extended spectrum of MBD5 mutations in neurodevelopmental disorders

46. Molecular mechanisms of neonatal hyperinsulinism.

47. Congenital hyperinsulinism: pancreatic [18F]fluoro-L-dihydroxyphenylalanine (DOPA) positron emission tomography and immunohistochemistry study of DOPA decarboxylase and insulin secretion.

48. The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism.

49. The Knudson's two-hit phenomenon and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism

50. Hyperinsulinemic hypoglycemia in children.

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