Results 101 to 110 of about 48,299 (209)

Otolaryngologic Manifestations of Trisomy 13 and Trisomy 18 in Pediatric Patients. [PDF]

Laryngoscope, 2023
Benson J, Stewart C, Kenna MA, Shearer AE.   +3 more
europepmc   +1 more source

Trisomy 13 [PDF]

, 2020
openaire   +2 more sources

Functional Independence Related to Oral Hygiene and Periodontal Status in Patients With Down Syndrome

International Journal of Dental Hygiene, EarlyView.
ABSTRACT Objectives This study aimed to investigate the relationship between functional independence, oral hygiene habits and periodontal status in patients with Down syndrome (DS). Methods A cross‐sectional observational study was conducted with 49 patients with Down Syndrome. Sociodemographic data, oral hygiene habits and functional independence were
Joana Albuquerque Bastos de Sousa, Kátia Maria Martins Veloso, Monique Maria Melo Mouchrek, Mayra Moura Franco, Cecilia Claudia Costa Ribeiro, Vandilson Pinheiro Rodrigues, Bruno Braga Benatti   +6 more
wiley   +1 more source

Ruptured Sinus of Valsalva Aneurysm Diagnosed on Coronary Computed Tomography Angiography in a Patient With Trisomy 13 Syndrome. [PDF]

Tex Heart Inst J, 2023
Barforoshi S, Sheker C, Ullal AV, Manubolu V, Budoff MJ, Roy SK.   +5 more
europepmc   +1 more source

The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley, Gary F. Sholler, Janine Smith, Gillian M. Blue   +3 more
wiley   +1 more source

COVID-19 in a mosaic trisomy 13 patient with polycystic kidney disease. [PDF]

SAGE Open Med Case Rep, 2022
Ost NK, Minchew HM, Garcia A, Ganatra HA.   +3 more
europepmc   +1 more source

Identification of trisomy 18, trisomy 13, and Down syndrome from maternal plasma

The Application of Clinical Genetics, 2014
Jean Gekas,1,2 Sylvie Langlois,3 Vardit Ravitsky,4 François Audibert,5 David-Gradus van den Berg,6 Hazar Haidar,4 François Rousseau2,71Prenatal Diagnosis Unit, Department of Medical Genetics and Pediatrics, Faculty of Medicine, Laval ...
Gekas J, Langlois S, Ravitsky V, Audibert F, van den Berg D, Haidar H, Rousseau F   +6 more
doaj  

A Practical Guide to Chromosome Microarray Interpretation for Paediatricians

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson, Margit Shah, Sarah Josephi‐Taylor, Brieana Dance, Benjamin Nash, Luke St Heaps, Dale Wright, Janette Hayward, Christopher Elliot, Joshua Steadson, Alan Ma   +10 more
wiley   +1 more source

Misdiagnosis of trisomy 13 and trisomy 18 is more common than anticipated. [PDF]

Am J Med Genet A, 2022
Geddes GC, Hafezi N, Gray BW.
europepmc   +1 more source

trisomy 13

Citation: 'trisomy 13' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.11323 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
openaire   +1 more source