Results 181 to 190 of about 2,789,483 (285)

Protective role of methylcobalamin (Vit B12) and pyridoxine (Vit B6) combination against teratogenic effects induced by lead in chick embryo. [PDF]

Toxicol Rep
Idrees R, Kanwal MA, Ahmad SN, Ahmad KR, Ahmad W, Ghazanfar N, Inayat I, Khalid M, Suleman S.   +8 more
europepmc   +1 more source

Visual impairment and eye abnormalities in Oklahoma Indians.

A M A Archives of Ophthalmology, 2005
Elisa Lee, D. Russell, T. Morris, A. Warn, R. Kingsley, G. Ogola   +5 more
semanticscholar   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Case Report: Acute keratoconus as the presenting feature in undiagnosed Norrie disease: hypothesis from a novel NDP mutation. [PDF]

Front Med (Lausanne)
Cao X, Kuang L, Lv J, Mei S, Su J, Wang Y, Zhan Q, Guo P.   +7 more
europepmc   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Radial Peripapillary Capillary Density Involved in Nasal Optic Disc Thinning and Visual Field Abnormalities Using Optical Coherence Tomography Angiography. [PDF]

Tomography
Yoshimura M, Hashimoto Y, Kodama Y, Hatanaka A, Yakushiji R, Ikeda S, Inoue N, Wakabayashi M, Kawazu I, Yoshitomi T.   +9 more
europepmc   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Advances in Pharmacotherapy and Physiotherapy for Dry Eye Disease: Molecular Mechanisms and Future Directions-A Narrative Literature Review. [PDF]

Int J Mol Sci
Liu J, Zheng H, Shi J, Hao M, Yang Q, Luo H, Zhang X.   +6 more
europepmc   +1 more source

Abnormal Eye Movements

Practica oto-rhino-laryngologica. Suppl., 1992
openaire   +2 more sources