Results 151 to 160 of about 539,380 (315)

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

Alterations in Macular and Peripapillary Vessel Density Following Implantable Collamer Lens Surgery in Highly Myopic Eyes and Their Potential Association with 2-Year Axial Length Changes

Clinical Ophthalmology
Lihui Meng,1– 3,* Xinyu Liu,1– 4,* Youxin Chen,1– 3 Yan Luo,1– 3 Zhikun Yang,1– 3 Huan Chen1– 3 1Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, People’s Republic of China;
Meng L, Liu X, Chen Y, Luo Y, Yang Z, Chen H   +5 more
doaj  

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

Occult Fronto-Orbital Fracture Presenting as Traumatic Pseudomeningocele in a 4-Month-Old Infant: Successful Surgical Management in a Resource-Limited Setting

International Medical Case Reports Journal
Abdirasak Ali Abukar,1 Ahmed Adam Osman,2 Hamdi Mohamed Isse,2 Hassan Muhumed Mohamed,3 Cihan Çelik,2 Mohamed Osman Dahir,2 Ismail Gedi Ibrahim2 1Department of Neurosurgery, Mogadishu Somali Türkiye Training and Research Hospital, Mogadishu, Somalia ...
Abukar AA, Osman AA, Mohamed Isse H, Mohamed HM, Çelik C, Dahir MO, Ibrahim IG   +6 more
doaj  

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan, Jessica A. Kraker, Denise J. Morgan, Lisa A. Schimmenti, M. Elizabeth Hartnett, Eileen S. Hwang   +5 more
wiley   +1 more source

A Historical Review of Encircling Laser Retinopexy as a Prophylaxis for Rhegmatogenous Retinal Detachment; and a Commentary on Recent Progress in Stickler Syndrome

Clinical Ophthalmology
Robert E Morris,1– 3 Ferenc Kuhn,1,4 Matthew H Oltmanns,1– 3 Matthew R West,1– 3 Cary R Baxter,1– 3 Mathew R Sapp,1– 3 Harshvardhan Chawla1– 3 1Helen Keller Eye Research Foundation, Birmingham, AL, USA; 2Retina Specialists of Alabama, Birmingham, AL, USA;
Morris RE, Kuhn F, Oltmanns MH, West MR, Baxter CR, Sapp MR, Chawla H   +6 more
doaj  

ARABIAN OPHTHALMOLOGY [PDF]

British Journal of Ophthalmology, 1946
openaire   +3 more sources

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source

Postoperative Contrast Sensitivity and Its Association with Lenticule Surface Regularity After KLEx with the VisuMax 800

Clinical Ophthalmology
Jiayi Hu,1– 5,* Yongle Bao,1– 6,* Zhanying Wang,1– 5 Yiyang Wang,1– 5 Junjie Yu,1– 5 Haipeng Xu,1– 5 Yishan Qian,1– 5 Xiaoying Wang,1– 5 Xingtao Zhou,1– 5 Jing Zhao1– 51Eye Institute and Department of Ophthalmology, Eye & ENT Hospital,
Hu J, Bao Y, Wang Z, Wang Y, Yu J, Xu H, Qian Y, Wang X, Zhou X, Zhao J   +9 more
doaj  

Medicine Through A Humanistic Lens

Delhi Journal of Ophthalmology, 2022
Dr Dhaliwal Upreet, MBBS, MS (Ophthalmology) CMCL-FAIMER 2015
doaj   +1 more source