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OpenAlex topic

Amyloidosis: Diagnosis, Treatment, Outcomes

This page lists works and academicians tagged with an OpenAlex topic. It is not a YÖKSİS primary or secondary field.

OpenAlex 2,065 works 17 author topics

Works

2,065 works

  1. APOL1 Risk Variants Are Strongly Associated with HIV Associated Nephropathy in Black South Africans 2015
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 1% OpenAlex 99.7%

    APOL1 variants are associated with HIV-associated nephropathy and FSGS in African Americans. The prevalence of these variants in African populations with CKD in HIV-1 infection has not been investigated. We determined the role of APOL1 variants in 120 patients with HIV-associated nephropathy and CKD and 108 controls f…

  2. Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment 2005
    OpenAlex top 10% OpenAlex 93.8%

    Camurati-Engelmann disease (CED) is a rare autosomal dominant type of bone dysplasia. This review is based on the unpublished and detailed clinical, radiological, and molecular findings in 14 CED families, comprising 41 patients, combined with data from 10 other previously reported CED families. For all 100 cases, mol…

  3. Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome 2018
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 1% OpenAlex 99.3%

    Background and objectives Steroid-resistant nephrotic syndrome overwhelmingly progresses to ESRD. More than 30 monogenic genes have been identified to cause steroid-resistant nephrotic syndrome. We previously detected causative mutations using targeted panel sequencing in 30% of patients with steroid-resistant nephrot…

  4. Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome 2018
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 1% OpenAlex 99.3%

    Background and objectives Steroid-resistant nephrotic syndrome overwhelmingly progresses to ESRD. More than 30 monogenic genes have been identified to cause steroid-resistant nephrotic syndrome. We previously detected causative mutations using targeted panel sequencing in 30% of patients with steroid-resistant nephrot…

  5. Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome 2018
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 1% OpenAlex 99.3%

    Background and objectives Steroid-resistant nephrotic syndrome overwhelmingly progresses to ESRD. More than 30 monogenic genes have been identified to cause steroid-resistant nephrotic syndrome. We previously detected causative mutations using targeted panel sequencing in 30% of patients with steroid-resistant nephrot…

  6. Genotype-phenotype correlation in a large group of Turkish patients with familial Mediterranean fever:: evidence for mutation-independent amyloidosis 2000
    YÖKSİS SJR Q1 JCR Q1 OpenAlex 87.6%

    OBJECTIVES: Differences in clinical manifestations of familial Mediterranean fever (FMF) between different ethnic groups have been documented. The FMF gene was recently cloned and four missense mutations (Met694Val, Met680Ile, Val726Ala, and Met694Ile) that account for a large percentage of the patients were identifie…

  7. Genotype phenotype correlation in a large group of Turkish patients with familial Mediterranean fever evidence for mutation independent amyloidosis 2000
    YÖKSİS OpenAlex 87.8%

    OBJECTIVES: Differences in clinical manifestations of familial Mediterranean fever (FMF) between different ethnic groups have been documented. The FMF gene was recently cloned and four missense mutations (Met694Val, Met680Ile, Val726Ala, and Met694Ile) that account for a large percentage of the patients were identifie…

  8. Genotype phenotype correlation in a large group of Turkish patients with familial Mediterranean fever evidence for mutation independent amyloidosis 2000
    YÖKSİS OpenAlex 87.4%

    OBJECTIVES: Differences in clinical manifestations of familial Mediterranean fever (FMF) between different ethnic groups have been documented. The FMF gene was recently cloned and four missense mutations (Met694Val, Met680Ile, Val726Ala, and Met694Ile) that account for a large percentage of the patients were identifie…

  9. Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study 2021
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 10% OpenAlex 98.2%

    No abstract yet.

  10. Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study 2021
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 10% OpenAlex 98.2%

    No abstract yet.

  11. Familial Mediterranean fever in childhood: a single-center experience. 2017
    YÖKSİS SJR Q2 JCR Q4 OpenAlex top 10% OpenAlex 96.3%

    No abstract yet.

  12. Defects of CRB2 Cause Steroid Resistant Nephrotic Syndrome 2015
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 10% OpenAlex 97.0%

    No abstract yet.

Academicians

17 academicians