206 results on '"Kuismin, Outi"'
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2. Germline HAVCR2/TIM-3 Checkpoint Inhibitor Receptor Deficiency in Recurrent Autoinflammatory Myocarditis
3. Whole-exome sequencing reveals candidate high-risk susceptibility genes for endometriosis
4. Vitamin C boosts DNA demethylation in TET2 germline mutation carriers
5. Truncating NFKB1 variants cause combined NLRP3 inflammasome activation and type I interferon signaling and predispose to necrotizing fasciitis
6. Inflammation and Neutrophil Oxidative Burst in a Family with NFKB1 p.R157X LOF and Sterile Necrotizing Fasciitis
7. Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy
8. Evaluating the role of CHEK2 p.(Asp438Tyr) allele in inherited breast cancer predisposition
9. Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility
10. Clinical, radiological and histopathological features of patients with familial pulmonary fibrosis
11. Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
12. XMEN disease caused by the novel MAGT1 p.(Trp136*) mutation may present with neuropsychiatric symptoms
13. Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders
14. Thymic neuroendocrine tumors in patients with multiple endocrine neoplasia type 1
15. The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia
16. A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development
17. Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.
18. Rubella virus-associated granulomas controlled with allogeneic hematopoietic stem cell transplantation.
19. Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders
20. Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis
21. Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)
22. Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility
23. A Family With A20 Haploinsufficiency Presenting With Novel Clinical Manifestations and Challenges for Treatment
24. Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population
25. Herpes simplex virus 2 encephalitis in a patient heterozygous for a TLR3 mutation
26. Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease
27. Elucidating the clinical and molecular spectrum ofSMARCC2-associated NDD in a cohort of 65 affected individuals
28. Tonsillar granuloma associated with hypogammaglobulinemia
29. Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland
30. Identification as a Mutation Carrier and Effects on Life According to Experiences of Finnish Male BRCA1/2 Mutation Carriers
31. Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae
32. Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy
33. Evaluating the role of MLH3 p.Ser1188Ter variant in inherited breast cancer predisposition
34. A nearly fatal primary Epstein-Barr virus infection associated with low NK-cell counts in a patient receiving azathioprine: a case report and review of literature
35. Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans
36. ATM c. 7570G >C is a high‐risk allele for breast cancer
37. 2. ENRICHMENT OF RARE, DAMAGING VARIANTS IN SCHIZOPHRENIA-RELATED GENES IN INTELLECTUAL DISABILITY PATIENTS WITH PSYCHOTIC DISORDERS
38. Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population
39. Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility
40. Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants
41. A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes
42. Mutations in sFRP1 or sFRP4 are not a common cause of craniotubular hyperostosis
43. ATM c.7570G>C is a high‐risk allele for breast cancer.
44. CD40LG Triplication Associates with Immune Dysregulation and Exhaustion.
45. A Family With A20 Haploinsufficiency Presenting With Novel Clinical Manifestations and Challenges for Treatment
46. The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia
47. Uterine leiomyomas in hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome can be identified through distinct clinical characteristics and typical morphology
48. Next-generation sequencing in a large pedigree segregating visceral artery aneurysms suggests potential role of COL4A1/COL4A2 in disease etiology.
49. Next-generation sequencing in a large pedigree segregating visceral artery aneurysms suggests potential role of COL4A1/COL4A2 in disease etiology
50. sj-pdf-1-vas-10.1177_17085381211033157 – Supplemental Material for Next-generation sequencing in a large pedigree segregating visceral artery aneurysms suggests potential role of COL4A1/COL4A2 in disease etiology
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