Results 91 to 100 of about 7,292 (198)

A Developmental Model of Infantile Nystagmus [PDF]

, 2006
The possibility that infantile nystagmus (IN) may reflect a failure in early sensorimotor integration has been proposed for more than a century, but is only recently being borne out in animal studies.
Berry, David L., Harris, Christopher M.
core   +1 more source

A Practical Guide to Genetic Eye Conditions for Paediatricians

Journal of Paediatrics and Child Health, Volume 61, Issue 10, Page 1538-1548, October 2025.
ABSTRACT Introduction Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders.
Richard Lin, Alan Ma, Benjamin M. Nash, Zachary McPherson, John R. Grigg, Robyn V. Jamieson   +5 more
wiley   +1 more source

Cirurgia de catarata congênita com implante de lente intraocular em olhos microftálmicos: resultados visuais e complicações [PDF]

, 2013
PURPOSE: To report the visual outcomes and complications of congenital cataract surgery with primary intraocular lens implantation in microphthalmic eyes of children younger than 4 years of age.
Nosé, Walton, Sampaio, Virgínia Vilar, Ventura, Bruna Vieira, Ventura, Liana Oliveira, Ventura, Marcelo Carvalho   +4 more
core   +2 more sources

Data set for reporting paediatric renal tumours: recommendations from the international collaboration on cancer reporting (ICCR)

Histopathology, Volume 87, Issue 2, Page 183-196, August 2025.
This is the first international data set, to our knowledge, produced by the International Collaboration on Cancer Reporting (ICCR) for the reporting of resection specimens of paediatric renal tumours with the aim of standardising pathology reports, facilitating international data comparisons and improving patient management globally.
E J Perlman, F Webster, K T E Chang, A Coulomb, L Galluzzo, N S Graf, E A Mullen, H Okita, M J O'Sullivan, G R Somers, A Treece, M Cohen, M Reyes‐Múgica   +12 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

Sequencing of Pax6 loci from the elephant shark reveals a family of Pax6 genes in vertebrate genomes, forged by ancient duplications and divergences [PDF]

, 2013
Pax6 is a developmental control gene essential for eye development throughout the animal kingdom. In addition, Pax6 plays key roles in other parts of the CNS, olfactory system, and pancreas.
A Christoffels, A Force, A Schedl, Alice Tay, B Ewing, B Kammandel, B Prud'homme, B Venkatesh, B Venkatesh, Boon-Hui Tay, Byrappa Venkatesh, C Griffin, C Miles, C Thisse, CB Kimmel, CC Ton, D Gordon, DA Kleinjan, DA Kleinjan, DA Kleinjan, DA Kleinjan, DA Kleinjan, DE Bamiou, Dirk A. Kleinjan, DM McGaughey, DO Robinson, E Birney, Emma Murdoch, F Loosli, Felix Loosli, G Elgar, G Halder, GK McEwen, H Kikuta, Harmit S. Malik, HN Cinar, I Mikkola, I Tzoulaki, J Fantes, J Graw, J Kim, J Kim, J Lakowski, J Postlethwait, J Sharpe, J Wang, JA Crolla, JA Epstein, JD Lauderdale, JS Taylor, K Kawakami, K Tamura, KA Frazer, LZ Holland, M Brudno, M Dominguez, M Lynch, M Nei, MA Larkin, N Haubst, N Osumi, N Saitou, O Kohany, P Blader, P Callaerts, P Dehal, P Navratilova, P Rice, Pedro Coutinho, Philippe Gautier, PX Xu, R Quiring, RD Page, RE Hill, S Fisher, S Fisher, S Hoegg, S Nornes, S Plaza, S Schwartz, SA Chanas, SB Carroll, SF Altschul, Shipra Bhatia, SM Sisodiya, Sydney Brenner, T Czerny, T Glaser, T Matsuo, T Yasuda, TI Simpson, TS Mikkelsen, VE Prince, Veronica van Heyningen, Vydianathan Ravi, WJ Gehring, WJ Gehring   +96 more
core   +3 more sources

Gene Dosage Sensitivity and Human Genetic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Here we review the historical background and contemporary insights into genetic dominance, focusing on haploinsufficiency (HI), that is, when the function of only one allele of a gene is not enough to ensure a normal phenotype in a diploid organism.
Reiner A. Veitia, Johannes Zschocke, James A. Birchler   +2 more
wiley   +1 more source

Origins of Congenital Defects: Epidemiologic Approach [PDF]

, 1967
This presentation consists of several short stories from personal experience to illustrate the complementary nature of epidemiologic and laboratory research in the study of congenital ...
Miller, Robert W.
core   +1 more source

Congenital cataract associated with persistent fetal vasculature: findings from IoLunder2 [PDF]

, 2016
PURPOSE: To describe the frequency, characteristics, and treatment outcome of persistent fetal vasculature (PFV) in children undergoing surgery for congenital and infantile cataract in the first 2 years of life.
British Isles Congenital Cataract Interest Group, ., Cumberland, P, Rahi, JS, Russell-Eggitt, I, Solebo, AL   +4 more
core   +1 more source

CORONIS symposium 2023: Scientific and clinical frontiers in ocular surface innervation

Acta Ophthalmologica, Volume 103, Issue 4, Page e240-e255, June 2025.
Abstract The 5th CORONIS Symposium, held during the 2023 Congress of the European Association for Vision and Eye Research (EVER), highlighted the growing importance of ocular surface innervation in eye surface disorders. This article summarises the insights and perspectives shared during the symposium, which focused on the clinical relevance of ocular ...
Anat Galor, Juana Gallar, M. Carmen Acosta, Víctor Meseguer, José Manuel Benítez‐Del‐Castillo, Oliver Stachs, Nóra Szentmáry, Piera Versura, Wolfgang G. K. Müller‐Lierheim, Carlos Belmonte, Jesús Pujol‐Martí   +10 more
wiley   +1 more source