Results 51 to 60 of about 13,537 (162)

Síndrome de Lowe: relato de cinco casos Lowe syndrome: report of five cases

Brazilian Journal of Nephrology, 2010
INTRODUÇÃO: A síndrome de Lowe, ou distrofia oculocerebrorrenal (OCRL), tem herança recessiva ligada ao cromossomo X. Apresenta-se com catarata, glaucoma, atraso no desenvolvimento neuropsicomotor (DNPM), déficit cognitivo e síndrome de Fanconi. OBJETIVO:
Marta Liliane de Almeida Maia, Maria Luiza Dautro Moreira do Val, Camila Penteado Genzani, Fernanda Alves Thomaz Fernandes, Maria Cristina de Andrade, João Tomás de Abreu Carvalhaes   +5 more
doaj   +1 more source

Multimodel Diffusion MRI Signatures in Atypical Parkinsonian Disorders

Human Brain Mapping, Volume 47, Issue 11, 01 August 2026.
We implemented a diffusion MRI framework to analyze clinically compatible multishell data across 123 participants, including controls, Parkinson's disease (PD), corticobasal syndrome (CBS), and progressive supranuclear palsy Richardson's syndrome (PSP‐RS). Diffusion models included DTI, free‐water elimination (FWE), NODDI, and fixel‐based analysis (FBA)
Yuqi Tian, Farwa Ali, Mary M. Machulda, Val. J. Lowe, Keith A. Josephs, Jennifer L. Whitwell   +5 more
wiley   +1 more source

Muscle Hypotonia in Lowe’s Syndrome

Pediatric Neurology Briefs, 1991
As part of a comprehensive evaluation of 23 patients with the oculocerebrorenal syndrome of Lowe at the Section on Human Biochemical Genetics, National Institutes of Health, Bethesda, MD, concentrations of muscle enzymes and carnitine metabolism were ...
J Gordon Millichap
doaj   +1 more source

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, Volume 104, Issue 5, Page 510-516, August 2026.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source

dOCRL maintains immune cell quiescence by regulating endosomal traffic.

PLoS Genetics, 2017
Lowe Syndrome is a developmental disorder characterized by eye, kidney, and neurological pathologies, and is caused by mutations in the phosphatidylinositol-5-phosphatase OCRL.
Steven J Del Signore, Sarah A Biber, Katherine S Lehmann, Stephanie R Heimler, Benjamin H Rosenfeld, Tania L Eskin, Sean T Sweeney, Avital A Rodal   +7 more
doaj   +1 more source

A novel index to measure pre‐planning in the Tower of London task: Test–retest reliability and known‐group validity

British Journal of Psychology, Volume 117, Issue 3, Page 1007-1025, August 2026.
Abstract The Tower of London (TOL) is a planning task frequently used in clinical settings and research. Planning and execution times are the most common outcome variables despite yielding lower effect sizes in clinical group comparisons and lower test–retest reliability than planning accuracy. Here, it is proposed that planning time be analysed not in
Lena V. Schumacher, Benjamin Rahm, Christoph P. Kaller, Valentin Schyle, Cornelius Weiller, Josef M. Unterrainer   +5 more
wiley   +1 more source

S3‐Leitlinie Diagnostik und Therapie der Alopecia areata – Teil 2: Therapie, psychosoziale und kosmetische Unterstützung

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 8, Page 1155-1179, August 2026.
Zusammenfassung In diesem zweiten Teil der S3‐Leitlinie zur Diagnostik und Therapie der Alopecia areata (AA) stellen wir die zentralen Inhalte und Empfehlungen zur topischen und systemischen Therapie, zur Lebensqualität und zu Unterstützungsangeboten vor.
Ulrike Blume‐Peytavi, Andria Constantinou, Tsenka Tomova‐Simitchieva, Adrian Tanew, Michael Sticherling, Hermann Girschick, Annika Vogt, Uwe Schwichtenberg, Uwe Gieler, André Märtens, Kerstin Zienert, Claudia Stenders, Ricardo Niklas Werner, Doris Wilborn   +13 more
wiley   +1 more source

First person – Bilal Akhtar

Biology Open, 2022
First Person is a series of interviews with the first authors of a selection of papers published in Biology Open, helping early-career researchers promote themselves alongside their papers.
doaj   +1 more source

Does Local Excision Without Salvage Surgery Affect the Prognostic Outcome of Patients With Malignant Colorectal Polyp? A Long‐Term Survival Analysis

Journal of Gastroenterology and Hepatology, Volume 41, Issue 8, Page 2427-2439, August 2026.
ABSTRACT Background and Aim Management of malignant colorectal polyp has been a treatment dilemma for clinicians. This study aims to evaluate the long‐term survival outcome of patients with and without salvage surgery after local excision. Methods From January 2000 to December 2022, patients with T1 malignant colorectal polyp diagnosed after local ...
Vienna Man Wah Ng, Simon Chu, Anson Huen Yan Chan, Sok Fei Hon, Simon Siu Man Ng   +4 more
wiley   +1 more source

Comprehensive Splice Pattern Analysis for Previously Reported OCRL Splicing Variants and Their Phenotypic Contributions

Kidney International Reports
Introduction: Two distinct phenotypes of Dent disease-2 and Lowe syndrome are caused by oculocerebrorenal syndrome of Lowe (OCRL) abnormality. Previous genetic studies demonstrated that truncating variants in exons 1 to 7 results in Dent disease-2 and in
Rini Rossanti, Eri Okada, Nana Sakakibara, Ryota Suzuki, Yuta Inoki, Yuta Ichikawa, Yu Tanaka, Hideaki Kitakado, Chika Ueda, Atsushi Kondo, Yuya Aoto, China Nagano, Tomoko Horinouchi, Tomohiko Yamamura, Shingo Ishimori, Kandai Nozu   +15 more
doaj   +1 more source