Results 111 to 120 of about 25,639 (292)

Germ cell and other tumors in individuals with differences in sex development

CA: A Cancer Journal for Clinicians, Volume 75, Issue 6, Page 587-601, November/December 2025.
Abstract Approximately one in 3500 to one in 5100 live‐born infants have atypical external genital development, known as differences in sex development (DSD). In 2005, an expert consensus conference thoroughly reviewed aspects of health care for individuals with DSD.
Selma Feldman Witchel, Miguel Reyes‐Múgica   +1 more
wiley   +1 more source

Protecting Pax6 3′ UTR from MicroRNA-7 Partially Restores PAX6 in Islets from an Aniridia Mouse Model

Molecular Therapy: Nucleic Acids, 2018
Aniridia is a rare congenital syndrome that is associated with reduced visual acuity and progressive loss of vision. Aniridia patients may also develop systemic health issues associated with defects in the pancreas, digestive, and central nervous systems.
Kevin Yongblah, Spencer C. Alford, Bridget C. Ryan, Robert L. Chow, Perry L. Howard   +4 more
doaj   +1 more source

HEREDITARY ANIRIDIA [PDF]

Journal of the American Medical Association, 1915
The case history here presented, together with the striking family history of heredity, is regarded of sufficient interest for publication. George McI., aged 27, was referred to my Wills Hospital service, Nov. 2, 1914. The right eye had been lost from some unknown cause in childhood and presented a shrunken stump.
openaire   +1 more source

Adaptación de lente de contacto cosmética en un caso de midriasis máxima irrefléxica y estrabismo tras cirugía complicada de cataratas [PDF]

, 2014
Se presenta un caso clínico con solución de lente de contacto cosmética para una paciente con midriasis máxima irrefléxica provocada por una complicación en cirugía de cataratas. El caso se complica al tener la paciente, además, una endo e hipertropía en
Castejón García, Raquel, Piñero, David P., Pérez Cambrodí, Rafael J., Ruiz Fortes, Pedro   +3 more
core   +1 more source

Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort

Clinical Genetics, Volume 108, Issue 5, Page 532-552, November 2025.
This study analyzes 94 IRD patients from a Turkish cohort using a 141‐gene NGS panel, achieving a 74% diagnostic yield. The identification of 28 novel variants highlights the genetic diversity of IRDs in Türkiye and underscores the value of population‐specific molecular testing.
Şenol Demir, Esra Arslan Ateş, Orkun Sevik, Bengisu Sözer, Tuğba Köse, Özlem Şahin, Ahmet Arman, Bilgen Bilge Geçkinli   +7 more
wiley   +1 more source

Aniridia congénita

Revista Repertorio de Medicina y Cirugía, 2011
Objetivo: presentar un caso de aniridia congénita bilateral asociada con catarata e hipoplasia foveal y revisar la literatura existente. Métodos: revisión de la literatura y de la historia clínica de un paciente que consultó al Hospital de San José de Bogotá DC.
Adriana Solano, Juan Díaz Granados, Ángela Castillo   +2 more
openaire   +3 more sources

Fluctuations in angle lambda with the pupil diameter and correlations with biometric values in a healthy population

Ophthalmic and Physiological Optics, Volume 45, Issue 7, Page 1837-1844, November 2025.
Abstract Purpose Angle lambda (λ) is defined as the angle between the line of sight and the pupillary axis at the entrance pupil. We previously developed a child‐friendly and portable method to measure this angle in daily practice. In a given population, angle λ fluctuates according to age or refractive error.
Maxence Rateaux, Alienor Vienne‐Jumeau, Dominique Bremond‐Gignac, Matthieu P. Robert   +3 more
wiley   +1 more source

Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia

Frontiers in Genetics, 2018
Mutations in PAX6 are involved in several developmental eye disorders. These disorders have considerable phenotypic variability, ranging from panocular forms of congenital aniridia and microphthalmia to isolated anomalies of the anterior or posterior ...
María Tarilonte, Matías Morín, Matías Morín, Patricia Ramos, Marta Galdós, Fiona Blanco-Kelly, Fiona Blanco-Kelly, Cristina Villaverde, Cristina Villaverde, Dolores Rey-Zamora, Gema Rebolleda, Francisco J. Muñoz-Negrete, Saoud Tahsin-Swafiri, Saoud Tahsin-Swafiri, Blanca Gener, Blanca Gener, Miguel-Angel Moreno-Pelayo, Miguel-Angel Moreno-Pelayo, Carmen Ayuso, Carmen Ayuso, Manuela Villamar, Manuela Villamar, Marta Corton, Marta Corton   +23 more
doaj   +1 more source

Contact-mediated control of radial migration of corneal epithelial cells [PDF]

, 2016
We thank Darrin Sheppard and other staff at the University of Aberdeen Medical Research Facility for specialist technical assistance. We thank Patsy D. Goast for overnight microscope monitoring.
Collinson, J Martin, Rajnicek, Ann M, Walczysko, Petr   +2 more
core   +1 more source

Identification of Genetic Variants Causing Paediatric Cataract in Myanmar

Clinical Genetics, Volume 108, Issue 4, Page 457-462, October 2025.
Up to 60% of children with cataract in Myanmar have a causative variant in a known cataract gene. This is a similar rate to other populations screened to date, but highlights that there are more cataract genes left to identify. ABSTRACT Genetic testing for paediatric cataract detects a cause in 50%–70% of affected children but is as low as 20% in some ...
Johanna L. Jones, Daisy Boardman, Khine Nweni, Franoli Edo, Isabelly M. Barros de Lima, Pakdhipat Lertsinpakdee, Soe Hlaing, Robert Casson, Ashwin Mallipatna, Ye Win, Bennet McComish, Naing Lin, James Muecke, Andy Griffiths, Martin Holmes, Than Htun Aung, Kathryn P. Burdon   +16 more
wiley   +1 more source