11 citations
,
November 2012 in “Seminars in Cutaneous Medicine and Surgery” This review summarizes current understanding and genetic insights into androgenetic alopecia, female pattern hair loss, and alopecia areata, noting the potential future role of molecular diagnostics, but it reports no new clinical results.
February 2025 in “Geriatrics and gerontology international/Geriatrics & gerontology international” This study found that cataracts, hair changes, short stature, and low bodyweight are key indicators for diagnosing Werner syndrome in patients under 30, differing from older age group symptoms.
In this case study, a 36-year-old male with symptoms of keratosis pilaris atrophicans faciei and frontal fibrosing alopecia tested negative for a specific mutation, highlighting genetic testing's potential to improve diagnosis and treatment outcomes in these similar conditions.
October 2014 in “Journal of Minimally Invasive Gynecology” Genetic testing for cancer risk can lead to early and life-saving treatments in people without symptoms.
5 citations
,
November 2020 in “Forensic Science International Genetics” This study found that using trait prevalence-informed priors may improve the prediction accuracy of appearance traits in Bayesian models, but their application is limited by sparse knowledge on trait prevalence.
94 citations
,
July 2020 in “European Journal of Human Genetics” This article provides guidelines for molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, focusing on quality requirements, methodologies, and variant classification; it reports no new clinical results.
244 citations
,
September 2008 in “Annual Review of Genomics and Human Genetics” This review examines the direct-to-consumer genetic testing market, highlighting the available tests, regulatory issues, and calls for increased oversight, and reports no new results.
December 2022 in “Curēus” This case report describes a 5-year-old girl with atrichia with papular lesions, whose diagnosis was confirmed through genetic testing identifying mutations in the hairless gene.
188 citations
,
October 2012 in “The AAPS Journal” This review discusses strategies for developing semi-solid topical generic products to match the quality of reference-listed drugs, using concepts like quality by design and reverse-engineering, but reports no new results.
26 citations
,
July 2019 in “Dermatology and Therapy” This article discusses genetic hair disorders in children, outlining diagnostic approaches and highlighting the significance of distinguishing isolated hair defects from those associated with syndromes, but it reports no new clinical results.
October 2025 in “Frontiers in Medicine” In this case report, a 10-month-old ethnic minority infant from Xinjiang with acrodermatitis enteropathy improved clinically and biochemically after zinc supplementation, underscoring the importance of early genetic testing for SLC39A4 mutations and individualized zinc therapy in managing this disorder.
This study identified the FGF5:c.578C>T variant as linked to long hair in Akitas in Japan and suggests that genetic testing could help improve their breeding practices and welfare.
November 2024 in “NeoReviews” This case report details an extremely low-birth-weight preterm neonate presenting with unique dermatologic symptoms, leading to a diagnosis of neonatal inflammatory skin and bowel disease due to a novel homozygous EGFR gene mutation, highlighting the importance of genetic testing in ambiguous cases.
September 2009 in “Hair transplant forum international” This article provides an interview with Felix Brockschmidt about his award-winning work on the genetics of male pattern androgenetic alopecia, focusing on the androgen receptor and findings on chromosome 20p11, and reports no new experimental results.
January 2026 in “International Journal of Molecular Sciences” This study found that eyebrow follicles, as opposed to buccal swabs or nails, are the most reliable tissue for post-HSCT germline genetic testing due to lower donor DNA contamination.
20 citations
,
March 2021 in “Cancers” This study found that rare germline pathogenic variants in BRCA2, BRCA1, and ATM are associated with increased risk of aggressive prostate cancer.
157 citations
,
May 2021 in “Endocrine Reviews” This review discusses recent advancements in understanding and managing congenital adrenal hyperplasia, including improvements in screening, diagnostics, and potential genetic and cell-based treatments, but reports no new clinical findings.
78 citations
,
April 1994 in “Archives of dermatology” This study suggests genetic and clinical heterogeneity in keratosis pilaris atrophicans, with variations in inheritance patterns, severity, and response to treatment among 21 individuals observed.
69 citations
,
May 2002 in “Journal of Investigative Dermatology” This study suggests that congenital atrichia with papular lesions may be more common than previously thought and proposes diagnostic criteria including the observation of hypopigmented whitish streaks on the scalp.
42 citations
,
May 2013 in “Oral Diseases” Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.
39 citations
,
October 2012 in “Familial cancer” This review covers the molecular basis of Birt–Hogg–Dubé syndrome and its implications for potential therapeutic targets, but it does not report new experimental results.
30 citations
,
June 2019 in “Frontiers in Endocrinology” This article discusses the challenges in diagnosing non-classical congenital adrenal hyperplasia and emphasizes personalized treatment approaches, reporting no new clinical results.
25 citations
,
September 2015 in “Clinical Endocrinology” This study found that diagnosing nonclassic congenital adrenal hyperplasia in women based solely on serum 17OHP measurements can lead to false positives, suggesting the need for urinary steroid profiles and genetic testing for confirmation.
23 citations
,
January 2017 in “BMC Medical Genetics” This study presents the first reported Spanish case of Hypotrichosis with Juvenile Macular Dystrophy, identifying a new CDH3 mutation and highlighting the importance of clinical and genetic evaluation for accurate diagnosis.
23 citations
,
July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
18 citations
,
November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
17 citations
,
June 2017 in “Gene” This is the first report of the FOXN1 p.R255X mutation from India, demonstrating the global spread of this genetic mutation previously found only in an Italian community.
13 citations
,
February 2012 in “International Journal of Dermatology” This case report identifies a novel nonsense mutation in the CDH3 gene associated with hypotrichosis and juvenile macular dystrophy.
11 citations
,
February 2019 in “Research and reports in forensic medical science” This article discusses the use of forensic DNA phenotyping to infer physical characteristics from biological samples without a reference sample, aiding investigations but raising ethical and legal concerns.
10 citations
,
March 2019 in “Human Genetics” This study identified a genetic variant in the SGK3 gene related to hairlessness in Scottish Deerhounds, suggesting a similar role for androgen-independent hair loss in humans.