100 citations
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May 2011 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
97 citations
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March 2002 in “Molecular and cellular biology” Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
94 citations
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July 2020 in “European Journal of Human Genetics” The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
91 citations
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March 2011 in “Stem Cell Reviews and Reports” Human epidermal neural crest stem cells can become bone and skin pigment cells, making them useful for therapies.
88 citations
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April 2017 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.
88 citations
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May 2012 in “Human Reproduction Update” Women with PCOS may take longer to get pregnant but can have a normal family size, and should manage their overall health to reduce long-term health risks.
80 citations
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March 2004 in “Neuropediatrics” Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
70 citations
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March 2016 in “Urologic Clinics of North America” The document explains how the male reproductive system works, its role in making testosterone, and how conditions like obesity can disrupt it, leading to low testosterone and fertility issues.
64 citations
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December 2012 in “Stem Cell Reviews and Reports” Human hair follicle cells can be turned into stem cells similar to embryonic stem cells.
62 citations
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August 2014 in “BMC Endocrine Disorders” New findings explain how genetic changes, body clocks, and certain molecules affect tissue response to stress hormones.
56 citations
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April 2015 in “American journal of medical genetics. Part A” Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
54 citations
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April 2010 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
53 citations
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February 2022 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” AMH helps estimate ovarian reserve but doesn't predict pregnancy chances; age is more important.
48 citations
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June 2014 in “Neurobiology of Disease” The study suggests that motor neurons created from stem cells of patients with spinal and bulbar muscular atrophy show signs of the disease, including changes in protein levels and cell functions.
40 citations
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January 2009 in “Skin Pharmacology and Physiology” Fetal cells could improve skin repair with minimal scarring and are a potential ready-to-use solution for tissue engineering.
38 citations
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March 2020 in “Current Hypertension Reports” Reproductive factors can increase hypertension risk and affect cardiovascular health.
35 citations
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June 2005 in “The Milbank Quarterly” The conclusion is that formalizing how past decisions influence current health technology assessments could improve the credibility and defense of coverage decisions.
32 citations
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April 1994 in “Journal of the American Academy of Dermatology” High androgen levels and genetic factors likely cause Becker's nevus and related symptoms.
31 citations
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April 2019 in “Cell reports” Patient-derived melanocytes can potentially treat vitiligo by restoring skin pigmentation.
30 citations
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June 2019 in “Frontiers in Endocrinology” The document concludes that managing non-classical congenital adrenal hyperplasia in females requires personalized treatment, genetic counseling, and a team of specialists.
26 citations
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August 2019 in “Stem Cell Research & Therapy” PBX1 helps hair stem cells grow and change by turning on certain cell signals and preventing cell death, which may be useful for hair regrowth treatments.
24 citations
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May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
19 citations
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February 2012 in “International Journal of Urology” In Japan, sex reassignment surgery for gender identity disorder faces challenges and needs better medical support and education.
17 citations
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December 2020 in “Journal of Genetic Counseling” Genetic counselors should be culturally skilled and aware of transgender patients' unique health risks and needs.
16 citations
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September 2008 in “Dermatologic Therapy” CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
14 citations
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January 2018 in “Advances in Clinical Chemistry” The document concludes that hormonal biomarkers are key for diagnosing hyperandrogenemia in women and hypogonadism in men.
14 citations
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April 2011 in “Cell Proliferation” Scientists can grow human hair follicle stem cells in a lab without changing their nature, which could help treat hair loss.
9 citations
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December 2020 in “International Journal of Medical Sciences” iPSCs help understand and treat neurodevelopmental disorders.
8 citations
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November 2020 in “Nature Communications” Adult stem cells with Tp63 can form hair and skin cells when placed in new skin, showing they have hidden abilities for skin repair.
8 citations
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March 2020 in “Frontiers in Cell and Developmental Biology” Researchers created immortal human skin cells with constant testosterone receptor activity to study hair loss and test treatments.