December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
103 citations
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October 2003 in “Birth Defects Research” Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.
October 2024 in “Irish Journal of Medical Science (1971 -)” Electrical stimulation with a low-calorie diet reduces appetite, weight, and blood pressure in obese people with sleep apnea.
June 2025 in “Journal of Endocrinological Investigation” Adrenal disorders often cause high blood pressure in young people.
July 2017 in “Contemporary Endocrinology” The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
117 citations
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May 2017 in “Human Reproduction Update” The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
24 citations
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October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
11 citations
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March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
2 citations
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January 2019 in “Medizinische Genetik” The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
November 2014 in “Elsevier eBooks” Gene mutations can cause problems in male genital development.
20 citations
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July 2017 in “Scientific Reports” A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.
1 citations
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December 2019 in “Frontiers in endocrinology” Higher androgen levels during puberty are linked to shorter adult height in boys with Silver-Russell syndrome.
1 citations
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May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
1 citations
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November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
3 citations
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April 2023 in “Frontiers in Pharmacology” ATP-sensitive K+ channel subunits, particularly Sur2A, play a significant role in various cancers.
January 2024 in “Wiadomości Lekarskie” Countries should improve sex education, access to contraception, and legal abortion options.
January 2024 in “Wiadomości Lekarskie” A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
2 citations
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March 2023 in “Research Square (Research Square)” Forensic DNA phenotyping faces challenges due to inconsistent terminology, limited genetic understanding, and debates over technology and models.
53 citations
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January 2011 in “Diabetes” People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
2 citations
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January 2024 in “Wiadomości Lekarskie” AI can greatly improve medical education by personalizing learning and enhancing skills, but challenges like cost, training, and ethics need addressing.
1 citations
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January 2024 in “Wiadomości Lekarskie” Detecting early breast arterial calcifications can help assess cardiovascular disease risk.
January 2024 in “Wiadomości Lekarskie” AI and robotics are improving treatment and monitoring of neurodegenerative disorders like Parkinson's.
January 2024 in “Wiadomości Lekarskie” Urban children in western Belarus had more severe COVID-19 cases in 2021.
January 2024 in “Wiadomości Lekarskie” New markers can detect tumors, aid drug delivery, and treat cancer effectively and safely.
January 2024 in “Wiadomości Lekarskie” AI can help diagnose Follicular Lymphoma by accurately identifying specific cell types.
January 2024 in “Wiadomości Lekarskie” Point of Care in radiology speeds up diagnosis and treatment by performing tests where the patient is.
January 2024 in “Wiadomości Lekarskie” Using a protocol with LH improves pregnancy rates in patients with low ovarian reserve.
January 2024 in “Wiadomości Lekarskie” AI improves vascular surgery by enhancing diagnostics, planning, and monitoring.
January 2024 in “Wiadomości Lekarskie” AI and advanced technologies are improving medical diagnostics and treatments.
January 2024 in “Wiadomości Lekarskie” Male sperm disorders significantly contribute to infertility.