Results 151 to 160 of about 68,068 (256)

Novel LAMA1 Mutations in a Pedigree With Poretti‐Boltshauser Syndrome: Implications for Hypomyelination

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
This study reports novel compound heterozygous LAMA1 variants in two siblings with Poretti‐Boltshauser syndrome presenting with cerebral hypomyelination. It provides the first clinical evidence linking LAMA1 to CNS dysmyelination, expanding the phenotypic spectrum and offering mechanistic insights into this rare association. ABSTRACT Background Poretti‐
Si Huang, Yiyang Li, Jing Xin, Wenhui Mo, Xiuwen Lin, Bingbin Mai, Junbin He, Xiaoli Zhong, Jiaxin Xu   +8 more
wiley   +1 more source

Homozygous Pathogenic Variant in Elongation Factor‐Like 1 (EFL1) as a Causal Factor in Shwachman‐Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
We report a Palestinian female infant with a homozygous pathogenic EFL1 variant (c.3284G>A; p.Arg1095Gln) causing Shwachman–Diamond syndrome type 2 (SDS2). Beyond the classical features of pancytopenia, exocrine pancreatic insufficiency, and growth failure, the patient showed previously unreported ocular manifestations—stage 2–3 retinopathy of ...
Ibrahim Taha, Antonella Minelli, Cesare Danesino, Abdelrahman Swalmeh, Khalil Huraibat, Liana Al‐Labadi, Rema Obar, Khaled R. Beshtawi, Lubna Abu Samrah, Yousef Awlad Mohammad, Aya Farah, Abdulrahman Obar, Mutasem Khalaf, Orwa Nasser   +13 more
wiley   +1 more source

A clinical prediction tool for ocular hypertension following silicone oil tamponade in rhegmatogenous retinal detachment. [PDF]

BMC Ophthalmol
Ju H, Qin X, Wang X, Jin L, Wu Y, Luo Q, Zhou H, Zhang N, Peng H.   +8 more
europepmc   +1 more source

Developmental retinal detachment.

Journal of the All-India Ophthalmological Society, 1967
Mehra K, Nema H, Rajyashree K, Singh R
openaire   +2 more sources

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Scleral Buckle Surgery for Retinal Detachment: Long-Term Rates of Operative Success, Redetachment, and Proliferative Vitreoretinopathy. [PDF]

J Vitreoretin Dis
Meshkin RS, Pandiri S, Patel P, Chaaya C, Hoyek S, Miller JB, Patel NA.   +6 more
europepmc   +1 more source

Soluble fms‐like tyrosine kinase‐1 and placental growth factor as predictors of adverse maternal events in women with a confirmed diagnosis of preeclampsia

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Objective Soluble fms‐like tyrosine kinase‐1 (sFlt‐1) and placental growth factor (PlGF) have been identified as predictors for preeclampsia and time to birth in women with suspected preeclampsia. This study aims to investigate these markers as predictors of adverse maternal events in women with confirmed preeclampsia.
Niclas Carlberg, Camilla Hesse, Sven‐Egron Thörn, Tor Damén, Henrik Imberg, Nicole Wallin, Malin Andersson, Verena Sengpiel, Lina Bergman   +8 more
wiley   +1 more source

A Standardized 10-Step Algorithm for Vitrectomy in Diabetic Tractional Retinal Detachment. [PDF]

Cureus
Pérez González D.
europepmc   +1 more source

Through Parents' Eyes: Reframing Neonatal Pain Assessment Through Lived Experience

Paediatric and Neonatal Pain, Volume 8, Issue 2, June 2026.
Linda Ng, Rob Eley, Priya Govindaswamy, Emre Ilhan, Ahmed Moustafa   +4 more
wiley   +1 more source

Decellularized Aged Bruch's Membrane Confers Unique Biochemical Cues to Retinal Pigment Epithelium for In Vitro Modeling of Age‐Related Macular Degeneration

Aging Cell, Volume 25, Issue 5, May 2026.
A Bruchs membrane (BrM) mimic based on aged decellularized BrM was developed and differentially expressed proteins in aged dECM‐BrM that may provide specific biochemical cues fundamental to model AMD in vitro were identified. RPE culture on aged dECM‐BrM developed certain AMD‐like features including reduced TEER and expression of drusen components ...
Blanca Molins, Mercedes Soledad Nabaes Jodar, Eliandre de Oliveira, Josep Maria Estanyol, Esther Peña, Jaione Bezunartea, María Hernández, Marc Figueras‐Roca, Alfredo Adan   +8 more
wiley   +1 more source