22 citations
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September 2015 in “Fertility and Sterility” The oral glucose tolerance test is effective in detecting abnormal glucose tolerance in Indian women with PCOS.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
January 2003 in “The Chinese Journal of Burns Wounds & Surface Ulcers” CK 19 expression is higher in more severe skin cancers.
16 citations
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December 2017 in “Journal of Pediatric and Adolescent Gynecology” Different diagnostic criteria greatly affect PCOS diagnosis rates in teenagers.
7 citations
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December 2014 in “Gynecological Endocrinology” LC-MS/MS is more reliable than immunoassays for diagnosing 21-hydroxylase deficiency.
8 citations
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June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
January 2023 in “Indian dermatology online journal” A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
1 citations
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November 2014 in “British journal of medicine and medical research” PCOS and related metabolic issues often run in families.
1 citations
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October 2020 in “PubMed” Hormone testing may not be very helpful in diagnosing female pattern hair loss.
January 2026 in “Frontiers in Medicine” A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
141 citations
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February 1988 in “Molecular and Cellular Biology” Only one K16 gene on chromosome 17 makes a functional keratin protein.
May 2025 in “JEADV Clinical Practice” Hair specialists vary in testing for alopecia areata, highlighting the need for standard guidelines.
7 citations
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June 2018 in “Journal of the American Academy of Dermatology” The document suggests finding a simpler, cheaper way to diagnose Uncombable Hair Syndrome.
June 2026 in “Indian Journal of Postgraduate Dermatology” Trichoscopy helps diagnose unclear hair loss cases effectively.
32 citations
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February 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” Two specific hair keratin genes are active during hair growth and decline as hair transitions to rest.
1 citations
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May 2004 in “Biochemical and Biophysical Research Communications” Two new gene clusters important for hair formation were found on human chromosome 11.
4 citations
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October 2003 in “Annales de Génétique” A specific gene mutation causes different hair defects in Indian monilethrix families.
8 citations
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March 2004 in “Mammalian genome” KAP genes are crucial for hair development and show both shared and unique traits in humans, chimpanzees, and baboons.
April 2008 in “Progrès en Urologie” 7 citations
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March 2004 in “Journal of the American Academy of Dermatology” Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.
September 2016 in “Journal of Dermatological Science” Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
9 citations
,
February 2022 in “Nature communications” Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.
1 citations
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September 2014 in “Hormones” Over a third of women thought to have non-classical congenital adrenal hyperplasia didn't have it confirmed by genetic tests.
January 2026 in “Figshare” January 2026 in “Figshare” May 2023 in “Zenodo (CERN European Organization for Nuclear Research)” Forensic DNA phenotyping can predict physical traits from DNA but faces challenges in knowledge and ethics.
October 2025 in “Journal of the Endocrine Society” A rare pituitary tumor in an 18-year-old male caused hormonal issues and vision loss, requiring surgery and further treatment.
9 citations
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March 2017 in “Journal of Visualized Experiments” The assay effectively identifies compounds that affect immune cell activation.
November 2025 in “International Journal of Clinical Obstetrics and Gynaecology” PCOS is likely inherited in families, increasing risk for first-degree relatives.