Results 191 to 200 of about 522,726 (295)

Time-Driven, Activity-Based Cost Analysis of Secondary Intraocular Lens Implantation. [PDF]

J Vitreoretin Dis
Meshkin RS, Hoffman SE, Chaaya Md C, Pandiri S, Yannuzzi NA, Al-Khersan H, Ghorayeb G, Leung EH, Busquets MA, Gong DA, Kolomeyer AM, Niles PI, Lai MM, Grewal DS, Patel NA, American Society of Retina Specialists Health Economic Committee.   +15 more
europepmc   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Ocular Transmission of Red and Violet Light: Insights into Light-Based Myopia Therapies. [PDF]

Transl Vis Sci Technol
Priscilla JJ, Beach KM, Maldoddi R, Schill AW, Ostrin LA.   +4 more
europepmc   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Indentation and internal visualization: A novel technique for posterior cannula placement in eyes with high myopia. [PDF]

Indian J Ophthalmol
Shettigar MP, Dave VP.
europepmc   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Vitreoretinal Myeloid Cell Heterogeneity: Diverse Roles in Homeostasis, Immune Surveillance, and Pathophysiology. [PDF]

J Immunol
Lemire CA, Lavine JA.
europepmc   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Central Serous Chorioretinopathy Deteriorated With Everolimus Administration in Advanced Renal Cell Carcinoma: A Case Report

Case Reports in Ophthalmological Medicine
Mahdi Nemati, Mohammadreza Niyousha, Banafshe Kharazi, Narges Hassanpoor   +3 more
doaj   +1 more source

Role of Growth Hormone (GH) and Other Somatotropic Axis Elements in Retinal Neuroprotection. [PDF]

Curr Issues Mol Biol
Epardo D, Arámburo C, Martínez-Moreno CG.   +2 more
europepmc   +1 more source