March 2023 in “International journal of trichology” This review discusses genetic conditions linked to complete scalp alopecia in children, identifying six genetic causes, but reports no new clinical results.
January 2023 in “Revista Paulista de Pediatria” This case study reported the first diagnosis of IFAP syndrome in Brazil with molecular investigation, identifying a rare MBTPS2 gene variant and expanding the known mutational spectrum associated with the condition.
July 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” This source reports findings from a case study detailing hair loss in two female patients, published in the JDDG: Journal der Deutschen Dermatologischen Gesellschaft, emphasizing that specific diagnostic outcomes or treatment results are not included in the summary.
October 2017 in “Springer eBooks” A thorough initial check-up is essential before sperm banking to ensure the best chance of preserving good quality sperm.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
May 2014 in “Journal of The American Academy of Dermatology” The project aimed to understand how genetic test results affect patients' actions and feelings in dermatology.
January 2013 in “International Journal of Trichology” This case report highlights the discovery of a novel TRPS1 gene mutation in a 17-year-old with TRPS type I, underscoring the diagnostic importance of hair symptoms in congenital hair diseases.
March 2009 in “Prenatal Diagnosis” This paper discusses the management of pregnancy in a carrier of the Donohue mutation and reports no new clinical findings.
February 2023 in “Journal of Aesthetic Nursing” This source reviewed various methods for hair restoration in men and women, emphasizing clinical approaches and treatment options but did not report specific outcomes.
3 citations
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December 2003 in “Micron” This review discusses recent advancements in hair loss treatments, focusing on androgenetic alopecia, alopecia areata, frontal fibrosing alopecia, and hair transplant technologies, without presenting new research findings.
August 2025 in “Cosmetics” This review discusses the possible link between cosmeceuticals and frontal fibrosing alopecia but reports no conclusive findings; the authors stress further research on environmental triggers is needed.
October 2020 in “Veterinary Dermatology” This review discusses autoimmune blistering diseases across species and highlights new treatment efficacy findings and ongoing trials, but it reports no new clinical results.
10 citations
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November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This case report identifies a mutation in the TRPS1 gene, leading to the diagnosis of trichorhinophalangeal syndrome type I in a young girl and her family, highlighting the importance of detailed clinical and family history for proper diagnosis.
35 citations
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January 2014 in “BioMed Research International” This review examines the epidemiology, pathogenesis, clinical manifestations, and diagnosis of female pattern hair loss and reports no new results.
December 2024 in “Pediatrics in Review” This case report concluded that undiagnosed Menkes disease, an X-linked disorder causing copper deficiency, contributed to a 7-month-old's illness and death, complicating his presentation with viral septic shock and methamphetamine exposure.
104 citations
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May 2019 in “F1000Research” This review discusses recent research on male infertility causes and treatments, emphasizing the need for further understanding of idiopathic sperm abnormalities and molecular factors to improve patient outcomes; it reports no new clinical results.
6 citations
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December 2015 in “International journal of immunopathology and pharmacology” A novel mutation in the SLC39A4 gene was identified in an infant with mild, incomplete acrodermatitis enteropathic symptoms, suggesting genetic testing is beneficial even without the full symptom triad.
October 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” In this case study, a 10-month-old minority infant from Xinjiang, China, with acrodermatitis enteropathy caused by an SLC39A4 gene mutation showed clinical improvement and increased zinc levels following zinc supplementation, highlighting the importance of early genetic testing and customized treatment in managing the disorder.
1 citations
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November 2017 in “Expert opinion on orphan drugs” This review discusses the genetic basis of ectodermal dysplasia, highlighting that identification of gene pathologies enhances diagnosis and supports prenatal DNA testing, but it reports no new clinical results.
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.
2 citations
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January 2002 in “Hormone Research in Paediatrics” This review discusses molecular testing for endocrine diseases, highlighting its diagnostic benefits and potential for prevention, particularly in conditions like multiple endocrine neoplasia type 2 and adrenogenital syndrome, but reports no new clinical results.
December 2021 in “Folia veterinaria” This review provides an overview of identified gene variants responsible for congenital skin diseases in dogs and highlights the role of genetic testing in veterinary diagnostics and breeding.
April 2025 in “Cermin Dunia Kedokteran” This review on Graves' disease explains its major role in causing hyperthyroidism, details genetic, environmental, and immunological risk factors, diagnoses, treatment options like anti-thyroid medications, and highlights potential complications such as ophthalmopathy and cardiovascular issues, noting prognosis varies by age.
5 citations
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May 2018 in “Therapeutic advances in drug safety” This review discusses the role of androgen therapy and neurosteroids in cerebrovascular health, highlighting the potential risks and benefits and the importance of pharmacogenetic testing, but reports no new experimental results.
February 2024 in “Pediatric Dermatology” In this case report, the researchers identified pathogenic compound heterozygous mutations in a young girl with lipoid proteinosis, noting her relatively mild symptoms and recommending genetic testing for early diagnosis and management of this rare condition.
210 citations
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May 2006 in “The FASEB journal” This study found that oxidative stress in hair follicle melanocytes contributes to premature aging and apoptosis, providing insights into graying as a model for studying aging and testing antiaging therapies.
87 citations
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February 2009 in “PubMed” This review discusses the potential causes and treatments for alopecia in nonhuman primates, emphasizing the need for comprehensive testing before attributing hair loss to stress.
13 citations
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October 2006 in “Pediatrics in review” This review discusses the complexities and factors influencing the management of precocious puberty in children, concluding that genetic influences are more significant than environmental ones. It reports no new research findings.
October 2024 in “Journal of the Endocrine Society” This case report highlights a patient with Ayme-Gripp syndrome, revealing an association between the syndrome and hypothyroidism, and underscores the importance of considering rare genetic conditions in differential diagnoses of endocrinopathies.
35 citations
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June 2011 in “British Journal of Dermatology” This study found that in an Italian population, the HLA-DQB1*03 allele was associated with increased susceptibility to alopecia areata, particularly in cases with more than 50% hair loss.