Ophthalmic manifestations of NAA10-related and NAA15-related neurodevelopmental syndromes: Analysis of cortical visual impairment and refractive errors.

Autor: Patel R; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA., Park AY; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA., Marchi E; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA., Gropman AL; Department of Neurology, George Washington University, Washington, DC, USA.; Division of Neuroradiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Whitehead MT; Department of Radiology Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Neurogenetics and Developmental Pediatrics, Children's National Health System, Washington, DC, USA., Lyon GJ; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.; George A. Jervis Clinic, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.; Biology PhD Program, The Graduate Center, The City University of New York, New York, New York, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Dec; Vol. 194 (12), pp. e63821. Date of Electronic Publication: 2024 Jul 16.

Creating a Path for Systematic Investigation of Children With Cortical Visual Impairment Who Use Augmentative and Alternative Communication.

Autor: Boster, Jamie B.¹ jamie.boster@nationwidechildrens.org, McCarthy, John W.², Brown, Kathryn¹, Spitzley, Alyson M.², Blackstone, Sarah W.³

Publikováno v: American Journal of Speech-Language Pathology. Jul2021, Vol. 30, p1880-1893. 14p.

Retinal detachment.

Autor: Lin JB; Massachusetts Eye and Ear and Harvard Medical School, Boston, MA, USA., Narayanan R; Anant Bajaj Retina Institute, LV Prasad Eye Institute, Hyderabad, India., Philippakis E; Université de Paris, Ophthalmology Department, AP-HP, Hôpital Lariboisière, Paris, France., Yonekawa Y; Wills Eye Hospital, Mid Atlantic Retina, Thomas Jefferson University, Philadelphia, PA, USA., Apte RS; John F. Hardesty, MD, Department of Ophthalmology and Visual Sciences, Washington University School of Medicine in St. Louis, St. Louis, MO, USA. apte@wustl.edu.; Department of Medicine, Washington University School of Medicine in St. Louis, St. Louis, MO, USA. apte@wustl.edu.; Department of Developmental, Regenerative, and Stem Cell Biology, Washington University School of Medicine in St. Louis, St. Louis, MO, USA. apte@wustl.edu.

Publikováno v: Nature reviews. Disease primers [Nat Rev Dis Primers] 2024 Mar 14; Vol. 10 (1), pp. 18. Date of Electronic Publication: 2024 Mar 14.

Overlooking: a sign of bilateral central scotomata in children.

Autor: Good, William V., Crain, Lucy S., Quint, Richard D., Koch, Thomas K., Good, W V, Crain, L S, Quint, R D, Koch, T K

Publikováno v: Developmental Medicine & Child Neurology; 1992, Vol. 34 Issue 1, p69-73, 5p

血清 STAT3、HIF-3α 的表达对早产儿视网膜病变病情严重程度的预测价值.

Autor: 蒋 晨¹ jc33116308@163.com, 王绍飞¹, 宋 艳¹, 刘 琪¹, 王晓虹¹, 丁 琳¹ jc33116308@163.com

Publikováno v: Progress in Modern Biomedicine. 2024, Vol. 24 Issue 2, p280-284. 5p.