Results 61 to 70 of about 682,435 (246)

Systematic Review of Females With Intellectual Disability and MECP2 Duplication

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MECP2 Duplication Syndrome (MDS) is a rare, X‐linked neurodevelopmental disorder typically affecting males. Females with MDS have been reported and are compiled here. We conducted a systematic review (PROSPERO CRD420250652426) of PubMed, EMBASE, and Google Scholar extracting individual participant data.
Paul Malik, Davut Pehlivan, Cary Fu, Antonio F. Martinez‐Monseny, Mar O'Callaghan, Judith Armstrong, Sarika U. Peters, Steven T. Lee, Timothy J. Feyma, Paola Mian, Christine Coquery   +10 more
wiley   +1 more source

Trends and Clinical Characteristics of Pediatric Patients Presenting to an Ophthalmology Emergency Department with an Initial Diagnosis of Optic Nerve Head Elevation

Clinical Ophthalmology, 2022
Kara M Cavuoto, Zahra Markatia, Annika Patel, Carla J Osigian Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USACorrespondence: Kara M Cavuoto, Department of Ophthalmology, Bascom ...
Cavuoto KM, Markatia Z, Patel A, Osigian CJ   +3 more
doaj  

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

Evaluation of Ophthalmology Residency Program Web Sites

, 2019
Evaluation of Ophthalmology Residency Program Web ...
Whittaker, Thomas J., Shaath, Deena S.
core   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

North American Delphi Consensus Study on Sinonasal Malignancy Survivorship Care

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Survival for patients with sinonasal cancers has improved over the past decades, but there are no dedicated survivorship guidelines for this cohort. Objective To understand experts’ priorities and perspectives on key survivorship tenets (surveillance, second tumor screening, toxicity, and symptom management).
Matheus Sewastjanow‐Silva, Samagra Jain, Rita Snyder, Erin L. McKean, Ralph Abi Hachem, Nithin D. Adappa, J. Ken Byrd, Ricardo L. Carrau, Marc A. Cohen, Ivan H. El‐Sayed, Mathew N. Geltzeiler, Ehab Y. Hanna, Edward C. Kuan, Nyall R. London Jr., Zoukaa B. Sargi, Carl H. Snyderman, Marilene B. Wang, Ian J. Witterick, Shirley Y. Su   +18 more
wiley   +1 more source

Female Representation in Pediatric Ophthalmology at the American Academy of Ophthalmology Annual Meeting From 2018 to 2022

Purpose:To identify trends in female pediatric ophthalmologist authorship and representation at the American Academy of Ophthalmology (AAO) Annual Meeting from 2018 to 2022.Methods: Participant data from 2018 to 2022 were collected from the AAO website ...
Pajek, Sarah, Cavuoto, Kara M., Robles-Holmes, Hailey, Sridhar, Jayanth, Hucko, Lauren, Watane, Arjun   +5 more
core   +1 more source

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, EarlyView.
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz, Seza Ozen, Hacer Neslihan Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet Emin Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet Orhan Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +1 more source

National Pediatric Ophthalmology Survey: Workforce Shortages, Telemedicine, and Advocacy Priorities

International Journal of Medical Students
Background: Pediatric ophthalmology faces ongoing workforce shortages, reimbursement concerns, geographic disparities in care access, and increasing advocacy demands.1,2 This study aimed to assess pediatric ophthalmologists’ perspectives regarding ...
Julia Moore, Ryan Shean, Zaid Ali, Amna Ali, Munib Far, Jacob Larsen, Emily McCourt   +6 more
doaj  

Handbook of Pediatric Ophthalmology

, 1979
The purpose of this book is to give the reader a broad overview on the field of pediatric ophthalmology. It is written primarily for the medical student.
Scott, William, W. Scott
core   +1 more source