Results 41 to 50 of about 3,580 (214)

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Validation of a New Test for Measuring the Contrast Sensitivity Function (Optopad-CSF) at Near Vision

Diagnostics
Our purpose is to develop and validate a new iPad-based contrast sensitivity (CS) test for measuring the contrast sensitivity function at near vision (Optopad-CSF).
Dolores de Fez, Celia García, Maria Josefa Luque-Cobija, Kevin J. Mena-Guevara, Paula Daudén, David P. Piñero   +5 more
doaj   +1 more source

Cataract extraction surgery in patients with uveitis in Taiwan: Risk factors and outcomes

Journal of the Formosan Medical Association, 2014
To analyze the preoperative conditions and postoperative outcomes of phacoemulsification and intraocular lens implantation in Taiwanese patients with uveitis.
Chang-Pin Lin, Po-Ting Yeh, Ping-Fang Chen, Chung-May Yang, Fung-Rong Hu   +4 more
doaj   +1 more source

Cerebrotendinous xanthomatosis and infertility: A case report

Clinical Case Reports, 2022
Cerebrotendinous xanthomatosis (CTX) is a lipid storage disorder that causes neurological, ophthalmic, vascular, and musculoskeletal disorders due to the deposition of cholesterol in the tissues.
Narges Karimi, Zahra Amiri, Sima Naeini, Ali Asghar Okhovat   +3 more
doaj   +1 more source

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

Association between inflammatory biomarkers and cataracts: validation from the NHANES database and clinical studies

Frontiers in Nutrition
IntroductionCataract-associated blindness has increasingly emerged as a major public health issue. Although inflammatory and nutritional status are well-established contributors to various systemic diseases, their associations with cataracts remain ...
Jingjing Ding, Ning Bao, Shengzhen Liu, Liming Tao, Jinsong Zhang   +4 more
doaj   +1 more source

The regulatory role of microRNAs in common eye diseases: A brief review

Frontiers in Genetics, 2023
MicroRNAs (miRNAs) are highly conserved, small non-coding RNA molecules (∼21 nucleotides) that regulate numerous biological processes, including developmental timing, hematopoiesis, organogenesis, apoptosis, cell differentiation, and proliferation either
Javier A. Benavides-Aguilar, Jonathan I. Morales-Rodríguez, Héctor Ambriz-González, Luis M. Ruiz-Manriquez, Luis M. Ruiz-Manriquez, Antara Banerjee, Surajit Pathak, Asim K. Duttaroy, Sujay Paul   +8 more
doaj   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source