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   Articles with "chinese pedigree" as a keyword



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Further delineation of autosomal recessive intellectual disability syndrome caused by homozygous variant of the NSUN2 gene in a chinese pedigree

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recommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.1518

Abstract: The enzyme NOP2/Sun RNA methyltransferase 2 (NSUN2) catalyzes the methylation of cytosine to 5‐methylcytosine (m5C) at position 34 of tRNA(Leu; CAA) precursors containing introns that play a vital role in spindle assembly during mitosis and… read more here.

Keywords: intellectual disability; chinese pedigree; delineation autosomal; nsun2 gene ... See more keywords
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A Chinese pedigree with glucocorticoid remediable aldosteronism

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recommendations! Published in 2021 at "Hypertension Research"

DOI: 10.1038/s41440-021-00685-3

Abstract: Glucocorticoid-remediable aldosteronism (GRA) is an autosomal-dominant inherited aldosteronism that is often accompanied by early-onset hypertension. GRA is caused by the unequal crossover of the 11β-hydroxylase (CYP11B1) and aldosterone synthase (CYP11B2) genes. As a result of… read more here.

Keywords: aldosteronism; aldosterone; gra; remediable aldosteronism ... See more keywords
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Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree

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recommendations! Published in 2020 at "Bioscience Reports"

DOI: 10.1042/bsr20193443

Abstract: Abstract As a genetically heterogeneous ocular dystrophy, gene mutations with autosomal recessive retinitis pigmentosa (arRP) in patients have not been well described. We aimed to detect the disease-causing genes and variants in a Chinese arRP… read more here.

Keywords: novel compound; compound heterozygous; large chinese; gene ... See more keywords
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Novel Splice-Site Mutation of KRT1 Underlies Diffuse Palmoplantar Keratoderma in a Large Chinese Pedigree.

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recommendations! Published in 2018 at "Genetic testing and molecular biomarkers"

DOI: 10.1089/gtmb.2018.0154

Abstract: AIMS To identify potential causative gene mutations in a large Han Chinese pedigree with diffuse nonepidermolytic palmoplantar keratoderma (NEPPK). METHODS We enrolled 11 patients and 8 healthy individuals from a pedigree with NEPPK and 100… read more here.

Keywords: novel splice; chinese pedigree; palmoplantar keratoderma; krt1 ... See more keywords
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Multiple phototherapeutic keratectomy treatments in a Chinese pedigree with corneal dystrophy and an R124L mutation: a 20-year observational study

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recommendations! Published in 2019 at "BMC Ophthalmology"

DOI: 10.1186/s12886-019-1167-1

Abstract: BackgroundTo investigate the efficacy and safety of repeated phototherapeutic keratectomies (PTKs) during long-term treatment for corneal dystrophy (CD) in a Chinese pedigree carrying the R124L mutation in TGFBI.MethodsThis was a retrospective review of 20-year medical… read more here.

Keywords: ptk; corneal dystrophy; r124l mutation; chinese pedigree ... See more keywords
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A novel NF1 frame-shift mutation c.703_704delTA in a Chinese pedigree with neurofibromatosis type 1.

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recommendations! Published in 2018 at "International journal of ophthalmology"

DOI: 10.18240/ijo.2018.09.22

Abstract: We analyzed the clinical features and NF1 gene mutation in a Chinese pedigree of neurofibromatosis type 1 (NF1). Three members of this family were NF1 patients presenting with different clinical phenotypes and the others were… read more here.

Keywords: mutation; neurofibromatosis type; chinese pedigree; novel nf1 ... See more keywords
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Behçet's Syndrome in a Chinese Pedigree of NLRP3-Associated Autoinflammatory Disease: A Coexistence or Novel Presentation?

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recommendations! Published in 2021 at "Frontiers in Medicine"

DOI: 10.3389/fmed.2021.695197

Abstract: Objectives: NLRP3-associated autoinflammatory disease (NLRP3-AID) and Behçet's syndrome (BS) both belong to autoinflammatory diseases and rarely co-occur. Here we reported a Chinese pedigree of NLRP3-AID presented with BS. Methods: We recorded a Chinese pedigree of… read more here.

Keywords: nlrp3 aid; chinese pedigree; nlrp3 associated; pedigree nlrp3 ... See more keywords