Results 81 to 90 of about 53,967 (228)

Performing Large‐Scale Genetic Analysis in the Bleeding Disorders Community

Haemophilia, EarlyView.
ABSTRACT Inherited bleeding disorders encompass a diverse group of conditions caused by genetic defects affecting coagulation factors, fibrinogen, von Willebrand factor, or platelet function. Despite major advances in quantitative and functional laboratory assays, a substantial diagnostic gap remains, particularly in patients with mild or atypical ...
Anna R. Blankstein, Sterre P. E. Willems, Saskia E. M. Schols, Rosanna Asselta, Gillian Lowe, Neil V. Morgan, Paula D. James   +6 more
wiley   +1 more source

Photobiomodulation therapy as a new hope therapy for retinitis pigmentosa: a systematic review

Revista Brasileira de Oftalmologia
Retinitis pigmentosa is one of the leading causes of hereditary blindness in developed countries and unfortunately there is currently no cure. Photobiomodulation therapy can penetrate the retina and optic nerve and restore the function of damaged ...
Ivana Beatrice Alberta, Yufilia Suci Amelia, Airina Stefanie   +2 more
doaj   +1 more source

Dysflective cones: Visual function and cone reflectivity in long-term follow-up of acute bilateral foveolitis. [PDF]

, 2017
PURPOSE:Confocal adaptive optics scanning laser ophthalmoscope (AOSLO) images provide a sensitive measure of cone structure. However, the relationship between structural findings of diminished cone reflectivity and visual function is unclear.
Cunningham, Emmett T, Duncan, Jacque L, Foote, Katharina G, Gorin, Michael B, Lujan, Brandon J, Qin, Jia, Ratnam, Kavitha, Roorda, Austin, Tu, Joanna H, Tuten, William S   +9 more
core   +1 more source

Mutation in RNF170 Causes Unsteady Gait with Hypertrophic Olivary Degeneration

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Hypertrophic olivary degeneration (HOD) is a rare form of transsynaptic degeneration resulting from disruption of the Guillain–Mollaret triangle, typically presenting with palatal tremor, ataxia, and nystagmus. Mutations in the Ring Finger Protein 170 (RNF170) gene have been associated with autosomal dominant sensory ataxia.
Change Wang
wiley   +1 more source

Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers. [PDF]

, 2016
PurposeWe determined the phenotypic variation, disease progression, and potential modifiers of autosomal dominant retinal dystrophies caused by a splice site founder mutation, c.828+3A>T, in the PRPH2 gene.MethodsA total of 62 individuals (19 families)
Birch, David G, Bowne, Sara J, Conneely, Karen N, Daiger, Stephen P, Hughbanks-Wheaton, Dianna K, Shankar, Suma P, Stone, Edwin M, Sullivan, Lori S   +7 more
core  

Deep Learning Integration in Optical Microscopy: Advancements and Applications

Microscopy Research and Technique, Volume 89, Issue 5, Page 791-814, May 2026.
It explores the integration of DL into optical microscopy, focusing on key applications including image classification, segmentation, and computational reconstruction. ABSTRACT Optical microscopy is a cornerstone imaging technique in biomedical research, enabling visualization of subcellular structures beyond the resolution limit of the human eye ...
Pottumarthy Venkata Lahari, Sagnika Dutta, H. Deeksha, Samreen A. Patel, Budheswar Dehury, Nirmal Mazumder   +5 more
wiley   +1 more source

Syndromic retinitis pigmentosa

Progress in Retinal and Eye Research
Retinitis pigmentosa (RP) is a progressive inherited retinal dystrophy, characterized by the degeneration of photoreceptors, presenting as a rod-cone dystrophy. Approximately 20-30% of patients with RP also exhibit extra-ocular manifestations in the context of a syndrome.
Jessica S. Karuntu, Hind Almushattat, Xuan-Thanh-An Nguyen, Astrid S. Plomp, Ronald J.A. Wanders, Carel B. Hoyng, Mary J. van Schooneveld, Nicoline E. Schalij-Delfos, Marion M. Brands, Bart P. Leroy, Clara D.M. van Karnebeek, Arthur A. Bergen, Maria M. van Genderen, Camiel J.F. Boon   +13 more
openaire   +3 more sources

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

Intraretinal hyperreflective foci on spectral-domain optical coherence tomographic images of patients with retinitis pigmentosa

Clinical Ophthalmology, 2014
Masako Kuroda,1 Yasuhiko Hirami,1–3 Masayuki Hata,4 Michiko Mandai,1–3 Masayo Takahashi,1–3 Yasuo Kurimoto1–3 1Department of Ophthalmology, Kobe City Medical Center General Hospital, 2Department of Ophthalmology, Institute of ...
Kuroda M, Hirami Y, Hata M, Mandai M, Takahashi M, Kurimoto Y   +5 more
doaj  

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