Results 61 to 70 of about 43,231 (266)
POEMS Syndrome: 2026 Update on Diagnosis, Risk‐Stratification, and Management
American Journal of Hematology, EarlyView.ABSTRACT Disease Overview POEMS syndrome is a life‐threatening syndrome due to an underlying plasma cell neoplasm. The major criteria for the syndrome are polyneuropathy, clonal plasma cell disorder (PCD), sclerotic bone lesions, elevated vascular endothelial growth factor, and the presence of Castleman disease.
Angela Dispenzieri
wiley +1 more source
Chromatin Structure Around Long Non-Coding RNA (lncRNA) Genes in Schistosoma mansoni Gonads
Non-Coding RNAIn this study, we employed a total of eight distinct modifications of histone proteins (H3K23ac, H3K27me3, H3K36me3, H3K4me3, H3K9ac, H3K9me3, H4K12ac, and H4K20me1) to discern the various chromatin colors encompassing lncRNA genes in both mature and ...
Ronaldo C. Augusto +3 more
doaj +1 more source
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1974 A brief account is given of the circumstances under which gonadal irradiation may be expected to occur. The nonspecific tissue effect and the hormonal and sterilising effects are considered. Genetic implications are mentioned.S. Afr. Med. J., 48, 543 (1974)
openaire +3 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli +11 more
wiley +1 more source
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
Combination of cervical cancer and unilateral complete aplasia of the adnexa: a case report
Бюллетень сибирской медицины, 2019 We present a rare case of the combination of cervical cancer and unilateral complete aplasia of the uterine adnexa. Female genital tract anomalies account for about 4% of all congenital malformations.Congenital malformations
A. L. Chernyshova +3 more
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The Journal of Obstetrics and Gynecology of India, 2013 Vanita, Vaishnav +4 more
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun +7 more
wiley +1 more source
Comparative Analysis of the Male and Female Gonadal Transcriptome of Thamnaconus septentrionali
Progress in Fishery SciencesThamnaconus septentrionali has excellent breeding characteristics, is omnivorous, easy to domesticate, is especially suitable for netting, cleans the netting, and effectively reduces labor-costs. T.
Dan WU +9 more
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A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini +9 more
wiley +1 more source