3 citations
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December 2011 in “Journal of Gynecologic Surgery” In this study, laparoscopic ovarian diathermy with three to five punctures per ovary improved reproductive outcomes for women with clomiphene-resistant polycystic ovary syndrome, while more than six punctures may cause excessive ovarian damage.
January 2026 in “MDPI (MDPI AG)” This study revealed that heterozygous mice with the hairy ear mutation exhibited significant gene expression changes related to hair growth, such as upregulation of hair keratin and keratin-associated proteins, shedding light on the Hoxc gene cluster's role in this phenotype.
21 citations
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October 1980 in “Gastroenterology” This report is the first to associate Cronkhite-Canada syndrome with multiple myeloma, describing regenerative pseudopolyps in a 58-year-old woman rather than true adenomatous polyps.
2 citations
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May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study describes a family where a TP63 mutation was linked with prominent alopecia and mild ectodermal dysplasia features.
29 citations
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January 2021 in “G3 Genes Genomes Genetics” This study identified a 195 bp duplication in crested chickens that causes large crest feathers and can be associated with cerebral hernia in some breeds, but not all.
December 2022 in “The Aging Male” This study found that in male patients, a lower right-handed 2D:4D digit ratio combined with older age correlated with increased severity risk of androgenetic alopecia.
April 2017 in “Turkish Journal of Pediatric Disease” This study found that 20% of children initially diagnosed with premature pubarche were later identified with other conditions like central puberty precox or congenital adrenal hyperplasia during follow-up, emphasizing the importance of ongoing differential diagnosis.
1 citations
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December 2025 in “Selçuk tıp dergisi/Selçuk Üniversitesi Tıp Fakültesi dergisi” In this cross-sectional study, researchers observed that patients with hidradenitis suppurativa, particularly women, had lower 2D:4D finger length ratios compared to healthy controls, suggesting a potential link to prenatal androgen exposure and disease severity, though further prospective research is needed to confirm this hormonal impact.
October 2022 in “Medičnì perspektivi” This article discusses two cases of follicular dyskeratosis (Darier-White disease), highlighting its rare occurrence, genetic basis, and the challenges in diagnosis and treatment; it presents no new experimental results.
1 citations
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October 2024 in “JCEM Case Reports” In this case report, a patient with pseudovaginal perineoscrotal hypospadias due to 5α-reductase deficiency presented gender dysphoria, and after genomic sequencing confirmation, injectable testosterone undecanoate treatment successfully developed desired male secondary sexual characteristics.
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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March 1997 in “Veterinary Dermatology” This case report describes multiple skin tumors in an 11-year-old Doberman Pinscher with color dilution alopecia, but it remains unclear if the condition increases risk for such tumors.
1 citations
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January 1992 in “DNA sequence” This study found that a cuticle keratin gene in sheep is a pseudogene due to gene duplication and mutations, lacking expression in vivo.
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.
8 citations
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November 2015 in “The American journal of dermatopathology/American journal of dermatopathology” The authors present a case of punctate follicular porokeratosis, suggesting it as a distinct clinical entity distinguished by keratotic lesions originating specifically from hair follicles.
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that Prss53-mutated rabbits exhibited curved hair and skeletal dyskinesia, suggesting a link between Prss53 loss and these traits, potentially involving disrupted calcium metabolism.
49 citations
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January 2006 in “Developmental Dynamics” This research observed that the skeletal abnormalities in Noggin null mice varied based on genetic background, and identified haploinsufficiency leading to joint fusions, similar to human conditions associated with NOGGIN deficiency.
33 citations
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June 2017 in “Developmental Biology” This study found that local refinement of hair follicles into higher order patterns can occur without the core planar cell polarity system, but global alignment with body axes requires its function throughout development and regeneration.
20 citations
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September 2018 in “Journal of cutaneous pathology” This study found that adnexal acantholysis does not reliably distinguish pemphigus vulgaris from pemphigus foliaceus, but the level of acantholysis and degree of dyskeratosis serve as distinguishing features among acantholytic disorders.
5 citations
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December 1964 in “Australasian journal of dermatology” This article discusses congenital atrichia and presents no new clinical findings.
7 citations
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April 2000 in “Mammalian Genome” This study identified a new mutation in SELH/Bc mice causing distinctive whisker and body hair abnormalities, mapped near the type I keratin cluster on chromosome 11.
115 citations
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” In this study, researchers identified novel LMNA mutations in patients with atypical progeroid syndrome, revealing clinical features distinct from other similar disorders, but unrelated to mutant prelamin A accumulation.
18 citations
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February 2001 in “Der Hautarzt” This case study of a 50-year-old woman with myotonic dystrophy and multiple basal cell carcinomas suggests there could be a genetic predisposition for certain cutaneous tumors in such patients.
22 citations
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July 2006 in “Annals of The Royal College of Surgeons of England” This case report aims to raise physician awareness about 'toe-tourniquet' syndrome, which can lead to digit loss if not promptly treated, and to prevent its misdiagnosis as child abuse.
February 2021 in “PubMed” This case report presents a 2-year-old girl with type B loose anagen syndrome diagnosed through a painless hair pull test, avoiding unnecessary further tests or referrals.
3 citations
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January 2021 in “Veterinary dermatology” This study describes a rare form of congenital alopecia in domestic short hair cats, characterized by hair shaft defects and follicular dystrophy similar to those seen in certain mutant mouse strains.
March 2024 in “Middle East Fertility Society Journal/Middle East Fertility Society Journal ” In this study, the researchers used dual-energy X-ray absorptiometry and found that women with polycystic ovary syndrome exhibit a central fat distribution pattern despite not having increased overall fat compared to controls, suggesting this method's potential utility in diagnosing and monitoring PCOS.
49 citations
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August 1999 in “Journal of Investigative Dermatology” In this study, transgenic mice expressing Msx-2 developed flaky skin with hyperproliferation and misalignment in epidermal cells, suggesting Msx-2 plays a role in skin and appendage growth control.
12 citations
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July 2004 in “Molecular genetics and genomics” This study identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.
September 2023 in “International journal of science and healthcare research” In this report, a preterm neonate was found to have total irreversible hair loss due to congenital atrichia, confirmed by a mutation in the human hairless gene on chromosome 8p22, illustrating this rare autosomal recessive disorder.