Results 111 to 120 of about 665,391 (260)

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

Longitudinal Echocardiographic Surveillance of Aortic Dilation in a Phenotype‐Enriched Turner Syndrome Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome (TS) is associated with thoracic aortopathy and increased risk for aortic dissection, yet the natural history of aortic dilation is not well understood. We performed a retrospective longitudinal study of individuals with TS who participated in the TS Society of the United States Healthy Heart Project between 2003 and 2023 ...
Dylan Doerner, Matthew R. Johnson, Sara Mansoorshahi, Rakesh Kathiresan, Katelyn Abel, Jonathan G. You, Emilio Quezada, Siddharth K. Prakash   +7 more
wiley   +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

A Feasibility Study of Clinical and Non-clinical Data Sources Used in Influenza Syndromic Surveillance: Application of Correlation Analysis Approach

مجله اپیدمیولوژی ایران, 2016
Background and Objectives: Syndromic surveillance systems are used to early detection of outbreaks. The purpose of this study was to determine the feasibility of clinical and non-clinical data sources used in influenza syndromic surveillance in Zanjan ...
K Jafari, M Karami, A Soltanian, N Esmailnasab   +3 more
doaj  

Syndromic Surveillance System for MERS-CoV as New Early Warning and Identification Approach

Risk Management and Healthcare Policy, 2020
Maryam Salamatbakhsh,1 Kazhal Mobaraki,2 Jamal Ahmadzadeh2 1Critical Care Nursing, Urmia University of Medical Sciences, Urmia, Iran; 2Epidemiologist in Social Determinants of Health Research Center, Urmia University of Medical Sciences, Urmia ...
Salamatbakhsh M, Mobaraki K, Ahmadzadeh J   +2 more
doaj  

Atypical X‐Linked Severe Combined Immunodeficiency in a Patient With Early‐Onset Inflammatory Bowel Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Primary immunodeficiency disorders may present with gastrointestinal inflammation resembling inflammatory bowel disease (IBD), particularly in patients with pediatric or very‐early‐onset disease. We report a 24‐year‐old male with lifelong immune dysregulation and early‐onset IBD who was ultimately found to carry a hemizygous intronic IL2RG ...
Agustina Fainguersch, Jennah Foltz, Theodore E. Wilson, Sydney A. Lau, Xiaonan Zhao, Casey A. Thornton, Morgan Driver, Jay Jun‐Hong Jin, Jean P. Molleston, Xiaoyi Zhang   +9 more
wiley   +1 more source

Monitoring COVID-19 in Belgian general practice: A tool for syndromic surveillance based on electronic health records

European Journal of General Practice
Background COVID-19 may initially manifest as flu-like symptoms. As such, general practitioners (GPs) will likely to play an important role in monitoring the pandemic through syndromic surveillance.Objectives To present a COVID-19 syndromic surveillance ...
Bénédicte Vos, Laura Debouverie, Kris Doggen, Nicolas Delvaux, Bert Aertgeerts, Robrecht De Schreye, Bert Vaes   +6 more
doaj   +1 more source

National and International Monitoring of Student Literacy and Numeracy Attainment: The Case for Rigorous Macro and Micro Analysis

Australian Journal of Social Issues, EarlyView.
ABSTRACT In her 2024 paper Are Australian students' academic skills declining? Interrogating 25 years of national and international standardised assessment data, Larsen compiled an impressive summary of major international (PISA, PIRLS and TIMSS) and national (NAPLAN) standardised assessments pertaining to literacy and numeracy.
Pamela C. Snow, Tanya A. Serry, Jennifer Buckingham, Lorraine S. Hammond, Stephen Dinham, Eamon Charles, Tessa A. Weadman, Nathanial R. Swain, Susan Hiland, Tessa Daffern   +9 more
wiley   +1 more source

Enhancing Surveillance for Mass Gatherings: The Role of Syndromic Surveillance [PDF]

Public Health Reports®, 2017
Aaron T, Fleischauer, Joanna, Gaines
openaire   +2 more sources