Results 191 to 200 of about 69,903 (252)

Phenotyping Overactive Bladder—Part 1: Are There Different Types of Urgency and Can They be Translated to Clinical, Urodynamic and Radiological Phenotyping? ICI‐RS 2025

Neurourology and Urodynamics, EarlyView.
ABSTRACT Introduction Overactive bladder (OAB) is defined as urinary urgency, usually accompanied by increased daytime frequency and/or nocturia, with urgency urinary incontinence (OAB‐wet) or without (OAB‐dry), in the absence of urinary tract infection or other detectable disease.
John E. Speich, D. Carolina Ochoa, Pradeep Tyagi, Apostolos Apostolidis, Sanjay Sinha, Claire Hentzen, Marcus Drake, Paul Abrams, Alan J. Wein, Michel Wyndaele   +9 more
wiley   +1 more source

Asymmetric Parietal Cortical Atrophy in a Patient with RAB39B‐Associated Parkinsonism

Movement Disorders Clinical Practice, EarlyView.
Luca Gallo, Emna Ben Mansour, Silvia Nicolosi, Anna Pichiecchio, Simone Gana, Samia Ben Sassi, Silvano Cristina, Micol Avenali, Enza Maria Valente   +8 more
wiley   +1 more source

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Corpus callosum in maltreated children with posttraumatic stress disorder: A diffusion tensor imaging study

, 2008
Andrea Parolin Jackowski, Heather Douglas-Palumberi, Marcel P. Jackowski, Lawrence Win, Robert T. Schultz, Lawrence H. Staib, John H. Krystal, Joan Kaufman   +7 more
openalex   +2 more sources

Measuring Fractional Anisotropy of the Corpus Callosum Using Diffusion Tensor Imaging: Mid-Sagittal versus Axial Imaging Planes [PDF]

, 2008
Eung Yeop Kim, Hae‐Jeong Park, Dong‐Hyun Kim, Seung‐Koo Lee, Jinna Kim   +4 more
openalex   +1 more source

An Unusual Motor OFF in Parkinson's Disease

Movement Disorders Clinical Practice, EarlyView.
Shreyashi Jha, Mandar S. Jog
wiley   +1 more source

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

Diffusion basis spectrum imaging provides insights into MS pathology [PDF]

, 2019
Cross, Anne H., George, Ajit, Naismith, Robert T., Perantie, Dana C., Song, Sheng-Kwei, Sun, Peng, Trinkaus, Kathryn, Ye, Zezhong   +7 more
core   +1 more source

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 more
wiley   +1 more source