2 citations
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January 2019 in “Medizinische Genetik” Among families with pediatric brain disease, this study identified over 200 novel genetic causes, revealing potential treatment points using drug repurposing or nutritional supplementation.
2 citations
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January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
2 citations
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May 2020 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” This study identified different skin disease profiles in primary versus secondary care in Florianopolis from 2016 to 2017, highlighting the primary care role in managing less complex conditions and referring complex cases for specialized dermatology care.
2 citations
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December 2004 in “Medicine” This review discusses various causes of hair loss, emphasizing the importance of a structured diagnostic approach, and reports no new clinical findings.
1 citations
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August 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study explores ear pinna development in mice and reports that elastic cartilage formation is disrupted in a short ear mutant, correlating with increased adult adipocytes and impaired chondrogenesis.
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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November 2016 in “Congenital Anomalies” This review examines the impact of biotin, vitamin B12, and zinc on male reproduction, emphasizing their role in spermatogenic failure, but reports no new clinical results.
1 citations
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February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
1 citations
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September 2025 in “Dermatology and Therapy” This review suggests that glucagon-like peptide 1 receptor agonists (GLP-1 RAs) have potential benefits for dermatologic conditions but may also cause adverse skin reactions and impact surgical outcomes.
1 citations
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July 2016 in “Elsevier eBooks” Understanding skin structure and development helps diagnose and treat skin disorders.
1 citations
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January 2013 in “Elsevier eBooks” The document reviews various hair and nail disorders, their causes, and treatments, emphasizing the need for proper diagnosis and the link between nail changes and systemic diseases.
This case study suggests that obstructive sleep apnea syndrome may be hereditary in patients with connective tissue disorders due to a variant in the COL1A2 gene.
March 2026 in “Folia Histochemica et Cytobiologica” This review highlights LTBP1 as a critical integrator in disease processes, showing its dual role in cancer progression and suppression, its pathological influence in fibrosis, and its contribution to various disorders, suggesting its potential as a biomarker and therapeutic target.
This study found that non-bleeding adverse events associated with NOACs affect multiple organ systems, emphasizing the importance of clinical vigilance. Specific NOACs like dabigatran, apixaban, edoxaban, and rivaroxaban were linked to distinct adverse reactions, including metabolic imbalances, thyroid disorders, and menstrual irregularities.
June 2025 in “Journal of Endocrinological Investigation” This review identifies and discusses various endocrine-related causes of hypertension in children and adolescents, emphasizing the role of genetic predispositions and highlighting the need for systematic diagnostic guidelines and genetic sequencing referrals to improve diagnosis and treatment strategies.
October 2024 in “Irish Journal of Medical Science (1971 -)” In this study, TENS of the T6 dermatome over a longer term was explored for its effects on weight, blood pressure, heart rate, and appetite-regulating hormones in obese subjects with moderate obstructive sleep apnea; however, results are not reported in the abstract.
September 2024 in “Egyptian Journal of Medical Human Genetics” This case report adds to the understanding of neurofibromatosis type 1 by documenting an Egyptian child with the condition alongside multiple unusual congenital anomalies, highlighting the importance of considering NF1 when these features are present.
This case report highlights the diagnosis of Parry Romberg syndrome in a 52-year-old man within a primary care setting, emphasizing the importance of awareness and team discussion among family physicians for rare conditions.
September 2023 in “medRxiv (Cold Spring Harbor Laboratory)” This study found that many conditions in patients with COVID-19 were significantly increased compared to controls, with specific phenotypes identified across different demographic and diagnostic attributes.
January 2022 in “Dermatology Review” This study found that patients with chronic kidney disease-associated pruritus had elevated serum levels of interleukin 31, suggesting a possible role of this cytokine in the condition.
September 2021 in “Research Square (Research Square)” This study found that measuring specific steroid hormone levels can aid in diagnosing P450 oxidoreductase deficiency, a subtype of congenital adrenal hyperplasia, by distinguishing affected patients from healthy individuals.
This genetic study identified a potential interval for the Marie Unna hypotrichosis gene but found no mutations in the nearby hr gene, suggesting its involvement remains unconfirmed.
January 2020 in “Research Portal Denmark” This study concludes that anti-androgenic chemicals causing short anogenital distance in male fetuses also induce a feminized transcriptional profile in the perineum, implicating Wnt and estrogen signaling in the process.
November 2019 in “Harper's Textbook of Pediatric Dermatology” This review discusses potential causes of alopecia and hair overgrowth in pediatric patients, detailing diagnostic techniques and treatments, but presents no new research findings.
November 2019 in “Harper's Textbook of Pediatric Dermatology” This index of Harper's Textbook of Pediatric Dermatology, Fourth Edition, provides no clinical results or new findings.
This handbook of dermatology provides a comprehensive practical manual for dermatologists, but reports no new research findings.
December 2018 in “Neuroradiology” MRI helps distinguish between pituitary adenomas and craniopharyngiomas, guides treatment for pediatric CNS tumors, and assesses rhinocerebral mucormycosis with a high mortality rate in transplanted patients.
This reference list, part of a book by Alex Gough, Alison Thomas, and Dan O'Neill, compiles citations from veterinary journals on various canine and feline health issues, but reports no new research findings.
February 2010 in “ePrints Soton (University of Southampton)” This research found that androgen bioactivity plays a role in normal female sexual differentiation, suggesting females develop within a significant androgenic environment, with implications for understanding conditions like congenital adrenal hyperplasia.
May 2026 in “International Research Journal of Ayurveda & Yoga” This review explores the Charaka samhita's concept of Ashtanindita purusha, identifying eight physical constitutions traditionally regarded as undesirable due to their association with various diseases, and aims to correlate these with contemporary genetic, endocrinological, and metabolic disorders.