Results 241 to 250 of about 498,360 (318)

SGLT2 inhibitor short-term efficacy and SYNTAX score association in coronary heart disease retinopathy: a propensity score matching study. [PDF]

Front Cardiovasc Med
Zhang Q, Wu Z, Jiang X, Wang Y, Xin Y, Guo X, Guo C.   +6 more
europepmc   +1 more source

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Integrating Human Expertise With Artificial Intelligence (AI) Models for Optical Coherence Tomography (OCT) Retinal Fluid and Pathology Quantification: A Systematic Review. [PDF]

Cureus
Awan B, Elsaigh M, Hesham Gamal M, Elbahnasawy SE, Badee M.   +4 more
europepmc   +1 more source

Low‐Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra‐deep sequencing approach in multiple tissues and review the literature about this topic in ...
Irene Ambrosetti, Carlotta Pia Cristalli, Francesca Montanari, Luca Caramanna, Francesco Modestino, Irene Capelli, Valeria Aiello, Sarah Lerario, Cecilia Evangelisti, Iria Neri, Eugenio Brunocilla, Cesare Rossi, Marco Seri, Daniela Turchetti, Giovanni Innella   +14 more
wiley   +1 more source

FoxO1, together with Notch1, promotes microglial activation to induce pathological changes in the retinal vasculature under hypoxia. [PDF]

Cell Mol Life Sci
Wu X, Liu J, Zhu H, Wu G, Chen X, Guo T, Fang X, Meng Q.   +7 more
europepmc   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Risk factors for postoperative blindness in primary rhegmatogenous retinal detachment: insights from first presentation to a tertiary center in China. [PDF]

Int J Ophthalmol
Zhu HQ, Rao HM, Xiao C, Pan QT, Zhang ZL, Zhang ZD, Wang Y, Hu XT.   +7 more
europepmc   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Deficiency disrupts photoreceptor viability and synaptic integrity in a choroideremia mouse model. [PDF]

Cell Death Dis
Yan J, Zhang T, Du Y, Pu Z, Ma Y, Wu Y, Shen Y.   +6 more
europepmc   +1 more source