5 citations
,
August 2014 in “Archivos Argentinos de Pediatria” This report presents a 6-year-old girl with Turner syndrome, suggesting a possible association between Turner syndrome, psoriasis, alopecia areata, and trachyonychia.
2 citations
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August 2014 in “Archivos argentinos de pediatría” This report describes a 6-year-old girl with Turner syndrome and coexisting psoriasis, alopecia areata, and trachyonychia, suggesting a potential link between these conditions.
2 citations
,
July 2016 in “Pharmacopsychiatry” This case report describes a non-mosaic Turner-Syndrome individual with global cerebral atrophy, significant cognitive impairment, and severe treatment-resistant schizophrenia.
8 citations
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July 2015 in “Molecular cytogenetics” This case study describes a patient with Turner syndrome who, despite lacking many classic features, presented with multiple autoimmune diseases, suggesting a link between complex X chromosome rearrangements and increased autoimmune risk.
13 citations
,
October 2000 in “International Journal of Dermatology” This case report describes a 6-year-old boy with Bloom syndrome characterized by distinct facial skin changes, delayed development, and a high frequency of sister chromatid exchanges.
26 citations
,
August 2008 in “Clinical endocrinology” This paper summarizes proceedings from a PCOS Special Interest Group, reporting recent advances in the understanding of PCOS follicular abnormalities, associated cardiovascular risks, and dermatological issues, but does not present new clinical findings.
37 citations
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June 2000 in “Experimental dermatology” This study investigated a spontaneous mutation in mice resulting in hair abnormalities and elevated IgE levels, which resembles human Netherton's syndrome and monilethrix.
3 citations
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November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” This case study reports a rare instance of RC11 associated with precocious puberty, severe hyperandrogenism, insulin resistance, and type 2 diabetes, suggesting a possible link to 11q-syndrome.
January 2026 in “Immunological Reviews” This review discusses sex differences in immune responses and highlights mechanisms involving sex hormones, X-linked genes, and X-Chromosome Inactivation, but reports no new clinical findings.
January 1995 in “Adolescent and pediatric gynecology” This article reviews genetic and phenotypic aspects of androgen insensitivity syndromes, emphasizing the diversity of mutations that complicates molecular screening and the importance of genotype-phenotype correlations.
46 citations
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February 2016 in “Experimental Dermatology” This review discusses the genetic research developments in androgenetic alopecia, reporting no new clinical results, and highlights the potential for discovering novel therapeutic targets.
July 2011 in “British Journal of Dermatology” Dermatologists give better information on pathology forms, hypersensitivity vasculitis is a common skin issue, misdiagnoses can occur, and various skin conditions are linked to loss of elastin or genetic factors.
June 2008 in “Springer eBooks” The document concludes that permanent hair loss conditions are complex, require early specific treatments, and "secondary permanent alopecias" might be a more accurate term than "secondary cicatricial alopecia."
9 citations
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March 2015 in “International reviews of immunology” This review discusses the relationship between ectodermal alterations and immunodeficiencies, particularly the roles of hyper-IgE syndrome, ectodermal dysplasia, and FOXN1 gene mutations, but it presents no new research findings.
4 citations
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January 2014 in “International Journal of Trichology” This report presents a 12-year-old male with symptoms indicative of Marie-Unna type hereditary hypotrichosis, characterized by a specific pattern of hair loss evolving with age.
April 2024 in “International Journal of Advanced Multidisciplinary Research and Studies” This study outlines a multidisciplinary approach to investigate primary amenorrhea, emphasizing the necessity to consider medical history, physical examination, and potential hormonal or anatomical causes, and recommends early referral in cases of chromosomal abnormalities or persistent amenorrhea following the development of secondary sexual characteristics.
12 citations
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September 2021 in “Stem Cell Reviews and Reports” This study suggests that StemMACS MSC Expansion Media is more suitable than PowerStem MSC1 media for expanding therapeutic adipose-derived mesenchymal stem cells, with less expression of negative markers and better chromosomal stability.
August 2021 in “Research Square (Research Square)” In this study of clinical-grade ADMSCs, researchers found that cells expanded in PowerStem MSC1 media exhibited increased negative marker expression, chromosomal abnormalities, and signs of senescence compared to those cultured in StemMACS MSC Expansion Media, suggesting that the latter is more suitable for therapeutic applications.
November 1966 in “British Journal of Dermatology” This conference proceeding abstract provides no new research results, focusing only on event details from the British Association of Dermatology's Forty-Sixth Annual Meeting held in Oxford in 1966.
19 citations
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October 1971 in “The BMJ” Anticonvulsant drugs may cause temporary chromosomal abnormalities.
1 citations
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November 2025 in “Aging Cell” This review discusses the role of the ectodysplasin A2 receptor as a biomarker and driver of ageing related to inflammation, and its potential therapeutic implications, but reports no new clinical findings.
13 citations
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June 2006 in “Pituitary” This article reports on a case where a 26-year-old woman with acromegaloidism was found to have X-tetrasomy, suggesting it should be considered in differential diagnoses due to its potential impact on growth-related genes.
87 citations
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March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” This paper discusses X-linked ichthyosis and its genetic causes, focusing on biochemical pathways and their role in epidermal differentiation and barrier function, but it presents no new clinical findings.
This study identified a missense variant in the EDA gene of a male cat, which likely caused hypohidrotic ectodermal dysplasia, characterized by hair and teeth abnormalities; this represents the first report of such a genetic condition in cats.
31 citations
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April 2004 in “Journal of Investigative Dermatology” This study found that a newly identified gene, mK17n, may explain the lack of nail issues in mK17 null mice by compensating for mK17's function in the nail bed.
January 2000 in “The Mouseion at the JAXlibrary (Jackson Laboratory)” This study identified a new mouse mutation associated with noninflammatory proliferative skin disease and hair abnormalities, drawing parallels to human conditions like Netherton's syndrome and monilethrix.
7 citations
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May 2010 in “Journal of Cutaneous Pathology” This study identified a novel locus for hereditary hypotrichosis simplex on chromosome 13q12.12~12.3 in a four-generation Chinese family.
This chapter reviews various skin disorders classified as Mendelian disorders of cornification and reports no new clinical findings, highlighting the complexity of genetics involved in inherited ichthyoses.
86 citations
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December 2001 in “Experimental dermatology” This review classifies mutant mice with hair abnormalities into six categories, providing an annotated table that serves as a reference for understanding the molecular controls of hair growth.
7 citations
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May 2005 in “Experimental Dermatology” This study reports that two mouse models of scarring alopecia exhibit similar patterns of hair loss progression despite histological differences in inflammatory cell localization and MHC class I expression.