5 citations
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November 2021 in “Saudi medical journal” This report describes three Saudi sisters with Woodhouse-Sakati syndrome, who exhibited typical features of the condition along with unusual gynecological anomalies.
43 citations
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April 2010 in “Clinical genetics” This study identified four novel mutations in the C2orf37 gene among Woodhouse–Sakati syndrome patients, doubling known mutations, and found no significant link between isolated symptoms like deafness and dystonia and these mutations.
31 citations
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January 2014 in “Journal of endocrinological investigation” This study reviewed Woodhouse-Sakati syndrome and found it consistently associated with hypogonadism, decreased IGF1, and frontotemporal alopecia, with additional symptoms like intellectual disabilities and diabetes in some patients.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.
3 citations
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December 2021 in “Frontiers in endocrinology” In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.
1 citations
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August 2021 in “Canadian journal of neurological sciences” This article offers HTML content and a downloadable PDF but does not provide an abstract or new findings for summary.
This case report describes a 33-year-old Kashmiri woman with Woodhouse-Sakati syndrome who has a rare DCAF17 gene mutation, c.321+1G>A, providing further evidence for its role in the genetic basis of this neuroendocrine disorder.
July 2021 in “Scholars Journal of Medical Case Reports” In this report, a 16-year-old Saudi girl with Woodhouse-Sakati Syndrome exhibited unique findings, including hepatic hemangioma and low growth hormone, suggesting the importance of considering WSS in similar clinical presentations.
1 citations
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July 2024 in “JCEM Case Reports” This report highlights a new genetic variant of Woodhouse-Sakati syndrome in two sisters from the first identified family case in Russia, emphasizing the varied manifestations of the disorder and the importance of genetic testing for diagnosis and patient-specific treatment planning.
July 2024 in “Journal of Rare Diseases” This review describes the genetic and phenotypic diversity of Woodhouse-Sakati syndrome, highlighting new DCAF17 gene variants and their varying clinical implications.
10 citations
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September 2021 in “American Journal of Medical Genetics Part A” This study on Qatari patients with Woodhouse-Sakati syndrome highlights the high incidence and diverse clinical presentation due to a specific genetic variant, emphasizing early diagnosis for effective management.
1 citations
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September 2021 in “Frontiers in genetics” This case report identifies a previously undocumented nonsense mutation in DCAF17 in a Chinese patient with Woodhouse-Sakati syndrome, inherited from consanguineous parents.
1 citations
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December 2013 in “BMJ case reports” This case report describes a 27-year-old pregnant woman with Werner9s syndrome and uncontrolled hypertension, resulting in her death during an emergency caesarean section, though her baby survived and tested negative for the condition.
14 citations
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March 2018 in “The American journal of case reports” This study highlights the phenotypic variability in 5 patients with Woodhouse-Sakati syndrome carrying the c.436delC mutation, suggesting a broader range of clinical presentations than previously recognized.
7 citations
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January 2015 in “Case reports in genetics” This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.
5 citations
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January 2016 in “Genetics and molecular research” In this study, a specific SNP in the A2M gene of Murrah buffaloes was significantly associated with increased fat production and higher fat and protein percentages in milk.
4 citations
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October 2020 in “Animal Bioscience” This study concluded that using a can containing beans as environmental enrichment for Rex rabbits improved their growth performance, carcass traits, meat quality, and hair follicle development compared to other enrichment materials or no enrichment.
3 citations
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February 2013 in “Journal of Medicinal Plants Research” This study found that both crude Spirulina extract and C-phycocyanin showed similar effects on keratinocyte proliferation and wound healing, with C-phycocyanin performing better in tissue regeneration in vivo on the 7th day.
2 citations
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January 2024 in “Wiadomości Lekarskie” This study suggests that artificial intelligence could significantly enhance histology education for medical and dental students, but its implementation faces challenges like cost, accuracy, and ethical considerations.
1 citations
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January 2024 in “Wiadomości Lekarskie” This study evaluated a new computer-aided detection system for identifying Breast Arterial Calcification in mammograms, achieving 70% accuracy, but highlighted the need for a larger dataset to explore its relationship with cardiovascular diseases.
1 citations
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January 2017 in “Social Science Research Network” This paper suggests that to better protect traditional and indigenous knowledge, TKDL should expand its database or establish a separate confidential resource for indigenous, tribal, and nomadic communities.
March 2026 in “Frontiers in Pharmacology” This study highlighted the promising health benefits of taxifolin, a flavonoid with antioxidant, anti-inflammatory, and other protective effects found in foods like onions and milk thistle, though more research is needed to fully understand its mechanisms and safety for human therapeutic use.
November 2024 in “International Journal of Agricultural Invention” This review highlights the therapeutic properties and nutritional value of amla (Phyllanthus emblica), noting its high vitamin C content and diverse pharmacological activities, including antidiabetic and antioxidant effects, as evidenced in traditional medicine practices.
January 2024 in “Wiadomości Lekarskie” This source reports that clinical trials using advanced Deep Brain Stimulation systems, augmented with AI to integrate kinematic data, eye tracking, and cognitive assessments, show promise in improving diagnostic accuracy and monitoring symptoms for patients with Parkinson's disease.
January 2024 in “Wiadomości Lekarskie” In this retrospective study conducted at Grodno Regional Children's Hospital, researchers found that children in western Belarus showed more severe COVID-19 symptoms in 2021 compared to 2020, with urban children primarily affected, and family contact emerging as the most common source of infection.
January 2024 in “Wiadomości Lekarskie” This study reported the development of fluorescent markers using wide band gap metal oxides with rare earth ions for early tumor detection and treatment. Testing in animals showed high efficiency and selectivity, with potential applications in contrast-enhanced MRI, targeted drug delivery, and photodynamic cancer therapy.
January 2024 in “Wiadomości Lekarskie” This study developed an AI-driven method for classifying cells in Follicular Lymphoma cases, achieving a 63% F1-score, precision, and recall in distinguishing centroblasts from other cell types using whole slide images at x20 resolution.
January 2024 in “Wiadomości Lekarskie” This article reviews the potential applications of Point of Care procedures in radiology, discussing their ability to enhance the speed of diagnosis and treatment but does not report new results.
January 2024 in “Wiadomości Lekarskie” This study found that using a combined LH and FSH stimulation protocol significantly increased clinical pregnancy rates in women with low ovarian reserve compared to the standard protocol.
January 2024 in “Wiadomości Lekarskie” This study highlights the growing role of artificial intelligence in vascular surgery, where AI improves diagnostic accuracy, surgical planning, and patient monitoring, ultimately enhancing clinical outcomes, shortening recovery times, and reducing healthcare costs.