22 citations
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April 2012 in “The American journal of pathology” This study found that the loss of Msx2 in knockout mice led to phenotypes similar to Peters anomaly and microphthalmia, suggesting that MSX2 plays a critical role in anterior segment development of the eye.
197 citations
,
June 2009 in “American journal of human genetics” This study found that previously undescribed WNT10A mutations are a prominent cause of various forms of ectodermal dysplasia, including OODD and Schöpf-Schulz-Passarge syndrome, with gender-specific phenotypic effects noted.
7 citations
,
May 2019 in “European Journal of Human Genetics” This study describes three new cases of MCOPS6 with BMP4 variants, noting expanded phenotypic variability but no clinically apparent microphthalmia in these individuals, which is commonly reported in the disorder.
7 citations
,
October 2020 in “Wiener medizinische Wochenschrift” This paper presents a case study of a 21-year-old male with thyroid hemiagenesis, where the left thyroid lobe and isthmus are absent, and discusses the anomaly's potential clinical consequences based on existing literature.
November 2014 in “Elsevier eBooks” This article reviews the clinical and biochemical features of genetic mutations affecting dihydrotestosterone production and their potential role in male pseudo-hermaphroditism, but presents no new clinical results.
119 citations
,
November 2016 in “American journal of human genetics” This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern.
1 citations
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June 2021 in “Computer methods and programs in biomedicine” This study found that children with cancer showed more deviation from typical facial morphology compared to healthy controls, although the differences were not enough to distinguish patients from controls based on facial asymmetry alone.
68 citations
,
August 2009 in “American Journal of Medical Genetics Part A” This study systematically reviewed clinical findings in trichothiodystrophy patients and suggested a new clinico-genetic classification to help better understand the ichthyotic phenotype and its management.
January 2024 in “Saudi pharmaceutical journal” In this study, the researchers developed and optimized a bilayer tablet containing Tamsulosin and Finasteride, achieving sustained and immediate drug release with favorable release kinetics, including first-order and anomalous diffusion mechanisms, through in vitro testing.
December 2025 in “Italian Journal of Anatomy and Embryology” This narrative literature review examined how linking embryonic development with non-genetic skin anomalies can improve diagnostic accuracy, guide prenatal counseling, and enrich dermatology education by revealing specific vulnerabilities in skin morphogenesis and supporting advances in regenerative medicine.
19 citations
,
December 2015 in “European Journal of Human Genetics” This study found that a novel rare variant in ITGB6 may cause intellectual disability, alopecia, and dentogingival anomalies in a specific Pakistani family, highlighting a potential role for ITGB6 beyond enamel formation.
May 2014 in “Annals of Plastic Surgery” The book is highly praised as an essential resource for plastic surgeons, despite minor gaps.
53 citations
,
October 2003 in “Developmental Biology” This study in mice found that overexpressing Sonic Hedgehog in basal cells caused skin anomalies and a lack of certain hair fibers, underscoring its key role in hair follicle development.
31 citations
,
February 2016 in “American Journal of Men's Health” This study found that nearly half of men using finasteride reported clinically significant depression, highlighting the need for psychiatric screening and careful risk assessment by prescribing clinicians.
This study utilized polarized light microscopy to examine hair shafts in ten children with rare genetic disorders, such as Netherton syndrome and ectodermal dysplasia, providing valuable diagnostic insights into hair thickness, composition, and structural irregularities associated with these conditions.
September 2009 in “Pediatric Dermatology” This meeting abstract volume for the Society for Pediatric Dermatology reports no new clinical results.
March 2021 in “The British Journal of Psychiatry” The abstract for this research is not provided, so results or conclusions from this study are not available.
2 citations
,
May 2024 in “European Journal of Investigation in Health Psychology and Education” In this study, a high prevalence of anabolic-androgenic steroid use was observed among bodybuilding athletes in Sergipe, Brazil, regardless of their socioeconomic backgrounds, highlighting the need for increased awareness about the associated health risks.
19 citations
,
October 1985 in “British Journal of Dermatology” This review proposes a new approach for categorizing and diagnosing unruly hair forms, building on previous literature and clinical experience, without presenting new clinical results.
33 citations
,
August 1985 in “Archives of Dermatology” This study suggests that acquired progressive kinking of hair, which typically appears at or after puberty, may be androgen dependent and could progress to male pattern baldness.
44 citations
,
January 2005 in “Dermatology” This article reviews the clinical and diagnostic features of hair shaft disorders, emphasizing the role of structured patient assessments and the avoidance of hair trauma, but reports no new results.
36 citations
,
October 2000 in “British Journal of Dermatology” This study identified a distinct gene near the hairless locus on chromosome 8p that is responsible for hereditary Marie Unna type hypotrichosis in a German family.
April 1999 in “Therapeutische Umschau” This review discusses androgenic alopecia and related hair disorders, focusing on their pathogenesis and treatment strategies, and reports no new clinical findings.
42 citations
,
November 2018 in “Archives of dermatological research” Apremilast was not effective in treating moderate-to-severe alopecia areata.
30 citations
,
January 2021 in “Journal of Clinical Immunology” This study describes various clinical phenotypes associated with FOXN1 mutations, finding that affected individuals may develop different severities of immunodeficiency based on their genetic mutations.
6 citations
,
October 2024 in “npj Digital Medicine” This study observed that patients with COVID-19 had many conditions and phenotypes that increased post-infection, varying by demographics and infection wave, which could enhance understanding and diagnostics of Long-COVID.
January 2024 in “GeroScience” This review explores how radiation-induced hair graying can be used as a model to study the mechanisms behind hair graying, focusing on cellular senescence and potential therapeutic targets to address age-related changes. Results are not provided.
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.
271 citations
,
September 2008 in “Nutrition reviews” This study identified new dietary ligands for the human vitamin D receptor, including curcumin and gamma-tocotrienol, which may influence its biological functions.
260 citations
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July 2010 in “Cell” This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.