Genetic and clinical characteristics of 24 mainland Chinese patients with CTNNB1 loss‐of‐function variants
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DOI: 10.1002/mgg3.2067
Abstract: Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) is a rare autosomal dominant syndrome, which is caused by the heterozygous germline loss‐of‐function variants in CTNNB1. read more here.
Keywords: function variants; genetic clinical; clinical characteristics; loss function ... See more keywords
Epidemiological, genetic, and clinical characterization by age of newly diagnosed acute myeloid leukemia based on an academic population-based registry study (AMLSG BiO)
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DOI: 10.1007/s00277-017-3150-3
Abstract: We describe genetic and clinical characteristics of acute myeloid leukemia (AML) patients according to age from an academic population-based registry. Adult patients with newly diagnosed AML at 63 centers in Germany and Austria were followed… read more here.
Keywords: population based; age; genetic clinical; amlsg bio ... See more keywords
Noonan syndrome: genetic and clinical update and treatment options
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DOI: 10.1016/j.anpede.2020.04.009
Abstract: Noonan syndrome (NS) is a relatively common genetic condition characterised by short stature, congenital heart defects, and distinctive facial features. NS and other clinically overlapping conditions such as NS with multiple lentigines (formerly called LEOPARD… read more here.
Keywords: noonan syndrome; syndrome genetic; treatment; clinical update ... See more keywords
[Noonan syndrome: genetic and clinical update and treatment options].
Sign Up to like & getrecommendations! Published in 2020 at "Anales de pediatria"
DOI: 10.1016/j.anpedi.2020.04.008
Abstract: Noonan syndrome (NS) is a relatively common genetic condition characterised by short stature, congenital heart defects, and distinctive facial features. NS and other clinically overlapping conditions such as NS with multiple lentigines (formerly called LEOPARD… read more here.
Keywords: noonan syndrome; syndrome genetic; treatment; clinical update ... See more keywords
Genetic and clinical variations of developmental epileptic encephalopathies
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DOI: 10.1080/01616412.2023.2170917
Abstract: ABSTRACT Objective The concept of ‘developmental and epileptic encephalopathy (DEE)’ recognises that in infants presenting with severe early-onset epilepsy, neurodevelopmental comorbidity may be attributable to both the underlying cause and to adverse effects of uncontrolled… read more here.
Keywords: clinical variations; developmental epileptic; variations developmental; epileptic encephalopathies ... See more keywords
Genetic and clinical characteristics associated with efficacy and retention rates of colchicine in Japanese patients with familial Mediterranean fever: A single-center observational study
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DOI: 10.1080/14397595.2020.1800558
Abstract: Familial Mediterranean Fever (FMF) is a typical inherited autoinflammatory disease characterized by periodic fever, arthritis, and serositis. Its pathogenesis involves mutations in the MEFV gene en... read more here.
Keywords: familial mediterranean; fever; genetic clinical; clinical characteristics ... See more keywords
New genetic and clinical features of neonatal inflammatory skin and bowel disease 1
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DOI: 10.1111/bjd.21589
Abstract: ment on phenotypes of pustular psoriasis. J Eur Acad Dermatol Venereol 2017; 31:1792–9. 7 Fujita H, Terui T, Hayama K et al. Japanese guidelines for the management and treatment of generalized pustular psoriasis: the new… read more here.
Keywords: new genetic; generalized pustular; genetic clinical; pustular psoriasis ... See more keywords
SAT0083 The genetic and clinical prediction models for efficacy and hepatotoxicity of methotrexate in patients with rheumatoid arthritis
Sign Up to like & getrecommendations! Published in 2018 at "Annals of the Rheumatic Diseases"
DOI: 10.1136/annrheumdis-2018-eular.5239
Abstract: Background The efficacy and toxicity of methotrexate (MTX) depend on individual patients with rheumatoid arthritis (RA) and are difficult to predict before treatment although MTX is the anchor drug and achieving the treatment target earlier… read more here.
Keywords: model; prediction; genetic clinical; efficacy hepatotoxicity ... See more keywords
Genetic, clinical and pathological characteristics of BRCA-associated breast cancer (BC) in Hispanic patients in the United States (US) and Latin America (LatAm).
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DOI: 10.1200/jco.2017.35.15_suppl.1539
Abstract: 1539Background: Hispanic women with BC present at a younger age, have a higher frequency of BRCA mutations and show a worse incidence-to-mortality ratio than non-Hispanic women. Information regarding the characteristics of BRCA-associated BC in Hispanics… read more here.
Keywords: hispanic patients; genetic clinical; characteristics brca; cancer ... See more keywords
Common genetic and clinical risk factors: Association with fatal prostate cancer in the Cohort of Swedish Men.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Clinical Oncology"
DOI: 10.1200/jco.2021.39.6_suppl.65
Abstract: 65Background: Clinical variables (age, family history, and genetics) are commonly used for prostate cancer risk stratification. Recently, polygenic hazard scores (PHS46, PHS166) were validated as a... read more here.
Keywords: common genetic; prostate; genetic clinical; risk ... See more keywords
Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study
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DOI: 10.3389/fendo.2020.574662
Abstract: Pheochromocytoma/paraganglioma (PPGL) has a high genetic heterogeneity with 40% germline variants in known pathogenic genes. Data in Chinese on this aspect are scanty. To detect the genetic and clinical profile of Chinese PPGL patients, we… read more here.
Keywords: chinese ppgl; genetic clinical; ppgl patients; ppgl ... See more keywords