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   Articles with "genetic clinical" as a keyword



Genetic and clinical characteristics of 24 mainland Chinese patients with CTNNB1 loss‐of‐function variants

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recommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"

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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recommendations! Published in 2017 at "Annals of Hematology"

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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recommendations! Published in 2020 at "Anales De Pediatria"

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].

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recommendations! 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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recommendations! Published in 2023 at "Neurological Research"

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
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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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recommendations! Published in 2020 at "Modern Rheumatology"

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

Analysis of genetic and clinical characteristics of androgen insensitivity syndrome: a cohort study including 12 families.

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recommendations! Published in 2024 at "European journal of endocrinology"

DOI: 10.1093/ejendo/lvae082

Abstract: CONTEXT Androgen insensitivity syndrome (AIS) manifests itself as variable symptoms of under-virilization in patients with 46, XY disorders caused by androgen receptor (AR) gene variants. This large-sample study aimed to correlate the genotypes and phenotypes… read more here.

Keywords: androgen insensitivity; clinical characteristics; insensitivity syndrome; genetic clinical ... See more keywords
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New genetic and clinical features of neonatal inflammatory skin and bowel disease 1

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recommendations! Published in 2022 at "British Journal of Dermatology"

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

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recommendations! 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 Pathologic Backgrounds of Children With X-Linked Alport Syndrome in China: A Monocenter Study

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recommendations! Published in 2024 at "Global Pediatric Health"

DOI: 10.1177/2333794x231221935

Abstract: Background. Characteristics of X-linked Alport syndrome (XLAS) in a cohort of Chinese children. Methods. This work is a retrospective study covering the clinical information, pathological data, and gene sequencing results of 32 cases with XLAS… read more here.

Keywords: pathologic backgrounds; clinical pathologic; genetic clinical; alport syndrome ... See more keywords

Genetic and clinical features of hereditary transthyretin amyloidosis: a decade of experience at a Japanese referral center

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recommendations! Published in 2025 at "Orphanet Journal of Rare Diseases"

DOI: 10.1186/s13023-025-04006-6

Abstract: Hereditary transthyretin (ATTRv) amyloidosis is a rare, intractable genetic disorder caused by mutations in the transthyretin (TTR) gene. More than 150 TTR mutations have been identified, along with genotype-phenotype correlations. Early diagnosis is critical to… read more here.

Keywords: non v30m; v30m cases; endemic areas; genetic clinical ... See more keywords