Results 51 to 60 of about 2,978 (164)

Observation of a unique case of metastatic basal cell carcinoma found by radiographic evaluation in a patient with oculocutaneous albinism [v1; ref status: indexed, http://f1000r.es/2lw]

F1000Research, 2014
Background: Basal cell carcinoma is one of the more common cancers worldwide; 2.8 million are diagnosed annually in the USA.  However, the rate at which it metastasizes is considered very low, between 0.0028 and 0.5%.
Mickaila Johnston, Whitney Winham, Nicole Massoll, Jerad M. Gardner   +3 more
doaj   +1 more source

Pigments, Chromatophore Structure, and Gene Expression Underlying Colour Polytypy of a Panamanian Poison Frog

Molecular Ecology, Volume 35, Issue 1, January 2026.
ABSTRACT Colour polytypism represents an example of phenotypic diversification shaped by genetic divergence and ecological pressures. Poison frogs of the genus Oophaga (Dendrobatidae) are highly polytypic in coloration, making them an ideal system for investigating the genetic and physiological basis of colour variation.
Vasiliki Mantzana‐Oikonomaki, Giselle Tamayo‐Castillo, Víctor Vásquez‐Cháves, Abel Mora‐Machado, William J. Zamora Ramirez, Roberto Ibáñez, Heike Pröhl, Ariel Rodríguez   +7 more
wiley   +1 more source

Refractive errors in Cameroonians diagnosed with complete oculocutaneous albinism

Clinical Ophthalmology, 2013
André Omgbwa Eballé1,3, Côme Ebana Mvogo2, Christelle Noche4, Marie Evodie Akono Zoua2, Andin Viola Dohvoma21Faculty of Medicine and Pharmaceutical Sciences, University of Douala, Douala, Cameroon, 2Faculty of Medicine and Biomedical ...
Eballé AO, Mvogo CE, Noche C, Zoua ME, Dohvoma AV   +4 more
doaj  

Novel Generation‐Skipping Inheritance Pattern of Marfan Syndrome Due to FBN1 Insertional Translocation: Diagnostic Utility of FISH and Implications for Genetic Counseling

Case Reports in Genetics, Volume 2026, Issue 1, 2026.
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in the fibrillin‐1 (FBN1) gene on Chromosome 15q21.1. A 3‐year‐old female presented to the clinic with MFS and a family history of an affected maternal uncle and maternal great‐aunt.
Breanna Beers, Hamilton Wexler, Gretchen MacCarrick, Aneek Das Bhowmik   +3 more
wiley   +1 more source

Oculocutaneous Albinism associated with Axenfeld’s Anomaly : Three case reports

Sultan Qaboos University Medical Journal, 2010
Oculocutaneous albinism and anterior mesodermal dysgenesis are well-known heritable conditions, but their occurrence in association has only been rarely reported.
B R Keshav, Mahmood J Mohammed, Nasir Mahmood   +2 more
doaj  

Oculocutaneous albinism: an African perspective

British and Irish Orthoptic Journal, 2014
Aim:  To describe the genetics behind oculocutaneous albinism (OCA), and explore OCA in an African context in terms of the effects on the health and education of individuals with OCA.
Geraldine R. Mcbride
doaj   +1 more source

Management of Mixed Mechanism Glaucoma Secondary to NewColorIris Implant Using an Ab Externo Xen Gel Stent

Case Reports in Ophthalmological Medicine, Volume 2026, Issue 1, 2026.
Background and Aims We present a case of mixed mechanism glaucoma following NewColorIris implant that was successfully treated using an off‐label use of Xen Gel Stent. Methods A retrospective review of the patient′s medical records was conducted following the acquisition of informed consent.
Roshun Sangani, Param Shukla, Miriam M. Habiel, Karuna Sharma   +3 more
wiley   +1 more source

Retinopathy of prematurity in oculocutaneous albinism

Indian Journal of Ophthalmology, 2019
We report a case of retinopathy of prematurity (ROP) in an infant with oculocutaneous albinism (OCA), with the challenges faced in diagnosis, and subsequent management. Poor fundus contrast and blanching of retinal vessels on indentation caused significant visualization problems in detection of ridge and extraretinal vessel proliferation.
Parijat Chandra, Nitesh Salunkhe, Vinod Kumar, Devesh Kumawat, Ruchir Tewari   +4 more
openaire   +3 more sources

Structural Variant and Repeat Expansion Findings Identified by Optical Genome Mapping in Complex Autism Spectrum Disorder With Concomitant Neurodevelopmental Disorders

Human Mutation, Volume 2026, Issue 1, 2026.
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by persistent deficits in social communication and interaction, along with restricted, repetitive patterns of behavior, interests, or activities. Single‐nucleotide variants (SNVs) and structural variants (SVs), including copy‐number variants (CNVs), have been reported as ...
Mehmet Burak Mutlu, Özge Beyza Gündoğdu Öğütlü, Özlem Öz, Fahrettin Duymuş, Serhat Seyhan, Ayşe Gül Bayrak Tokaç, Esad Tezcan, Hakan Öğütlü, Fatma Demiryılmaz, Nurcan Silahtarlıoğlu, Kader Bilgil, Sümeyye Elma, Murat Erdoğan, Hakan Gümüş, Sefer Kumandaş, Fethiye Kılıçaslan, Baisakhi Banerjee   +16 more
wiley   +1 more source

Albinism – symptomatology, aetiology, and therapy

Pediatria Polska
Albinism is a rare, genetically determined disorder of melanogenesis resulting in a reduction or complete absence of melanin in tissues of ectodermal origin, especially skin, hair, and irises of the eyes.
Beata Chałupczyńska, Elżbieta Ciara, Krystyna H. Chrzanowska, Agnieszka Madej-Pilarczyk   +3 more
doaj   +1 more source