Results 201 to 210 of about 570,903 (309)

Choriocapillaris Flow Deficits and Outer Retinal Biomarkers in Early Macular Telangiectasia Type 2: A Multimodal Imaging Study. [PDF]

Biomedicines
Menna F, Meduri A, De Luca L, Baldascino A, Vingolo EM, Lupo S.   +5 more
europepmc   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Macular Retinal Layer Thickness in Mild-to-Moderate Parkinson's Disease. [PDF]

Diagnostics (Basel)
Zhu MY, Patel SD, Daniels N, Hsu J, D'Cunha R, Choi A, Haystead A, Chiu SJ, Scott B, Grewal DS, Fekrat S.   +10 more
europepmc   +1 more source

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source

Retinal layer structure on optical coherence tomography in post-traumatic stress disorder. [PDF]

PLoS One
Patel SD, Karthik N, Justin GA, Haystead A, Chiu SJ, Stinnett SS, Johnson KG, Grewal DS, Fekrat S.   +8 more
europepmc   +1 more source

TTC21B: From Modifier to Causative Gene in Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri, Fulvio D'Abrusco, Anna Pichiecchio, Thouraya Ben Younes, Ichraf Kraoua, Enza Maria Valente   +5 more
wiley   +1 more source

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source

Cerebrospinal Fluid Cytokine Expression and Relationships With Neurological Measures in Virologically Controlled People With HIV

Annals of Neurology, EarlyView.
Objective Quantify cytokines in cerebrospinal fluid (CSF) of virologically suppressed people with HIV (PWH) and people without HIV (PWoH) and correlate these with neuroimaging, neuropsychometric (NP), and neurodegenerative measurements. Methods CSF samples were collected from virologically suppressed PWH and demographically matched PWoH under a natural
Jack Peterson, Clarissa Xia, Govind Nair, Joseph Snow, Julia Stone, Gina Norato, Brandon Do, Samuel Darko, Kory Johnson, Swati Shah, Amanda Wiebold, Melina Jones, Avindra Nath, Darshan Pandya   +13 more
wiley   +1 more source

Understanding the spacing of placodes in the eye: A comparative study across age and species

The Anatomical Record, EarlyView.
Abstract The conjunctival placodes of the avian eye form in an intriguing and conserved sequence in a circular annulus around the cornea. These 13–16 placodes develop into papillae that are essential for inducing underlying intramembranous flat bones, known as scleral ossicles, which form an important part of the ocular skeleton.
Florence Joseph, Tamara A. Franz‐Odendaal   +1 more
wiley   +1 more source