Results 211 to 220 of about 317,190 (282)

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

Results of Chromosomal Microarray Need to Always Be Checked by (Molecular) Cytogenetics-Even If They Seem to Be Simple Deletions. [PDF]

Genes (Basel)
Liehr T, Singer S, Mau-Holzmann U, Kankel S, Padutsch N, Person L, Daumiller E, Kornak U.   +7 more
europepmc   +1 more source

Shared Decision‐Making for Genetic Tests With Children and Young People With Intellectual Disability: Considerations for Inclusive, Person‐Centred, and Respectful Approaches

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT With over 1000 genetic causes for neurodevelopmental conditions, genetic testing (including exome sequencing) is recommended for people with intellectual disability to guide clinical care, as well as improve empowerment, connection to peer supports, and access to funded therapies.
Manjekah Dunn, Iva Strnadová, Michelle Tso, Claudia Pantoja Mardones, Jackie Boyle, Erica Longhurst, Julie Loblinzk Refalo, Skie Sarfaraz, Bronwyn Terrill, Elizabeth Emma Palmer   +9 more
wiley   +1 more source

CHARGE Syndrome: A Narrative Review and Update on Diagnosis, Assessment and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Background CHARGE syndrome (CS) is a rare multisystemic genetic condition caused by a pathogenic variant in the DNA‐binding protein‐7 CHD7 gene. The condition affects the development of neural crest cells, which give rise to craniofacial structures, cranial nerves, ears, eyes and the heart, resulting in diverse and complex clinical features ...
Eleni M. van Gelder, Suzanna E. L. Temple, Niall Jefferson, David Brown, Kasee Stratton‐Gadke, Madelene Rich, Steve Rose, Kim Blake   +7 more
wiley   +1 more source

A retrospective study for the diagnostic value of chromosomal microarray analysis in fetuses with high-risk prenatal indications. [PDF]

Front Genet
Xiao H, Xiao J, Zhang H, Huang S, Lu Q, Yuan H, Zou Y, Yang B, Liu Y.   +8 more
europepmc   +1 more source

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

Etiological diagnosis of miscarriage by combining use of chromosomal microarray analysis and whole-exome sequencing. [PDF]

Eur J Med Res
Zhuang J, Fu W, Gu L, Ye X, Wang J, Chen C.   +5 more
europepmc   +1 more source

Epigenetic Regulation in the Pathogenesis of Periodontitis

Journal of Periodontal Research, EarlyView.
The aim of this narrative literature review was to identify epigenetic marks associated with periodontitis and to place them in a biological context. The literature was reviewed based on pre‐defined criteria. Cell type specific chromatin and mRNA modifications were included.
Henrik Dommisch, Arne Sönke Schäfer, Denica Kuzmanova, Dominique S. Michaud   +3 more
wiley   +1 more source

Regions of Homozygosity Identified with a Chromosomal Microarray in a Korean Population: Distribution, Frequency, and Clinical Interpretation. [PDF]

Ann Lab Med
Kim J, Min S, Seol CA, Seo EJ.
europepmc   +1 more source

Saliva Liquid Biopsy for Detection of Oral and Systemic Diseases

Journal of Periodontal Research, EarlyView.
This Review summarizes and discusses the biological foundations and major classes of salivary biomarkers, outlines collection methods and analytical protocols for saliva‐based liquid biopsy, and technological convergences driven by multi‐omics approaches, artificial intelligence, and point‐of‐care devices in the application of oral and systemic ...
Irene Choi, Aaron Zander, Bradley Chan, Leila Syedmoradi, Dev Trivedi, Karolina Elżbieta Kaczor‐Urbanowicz, Fang Wei, Neeti Swarup, Trinity Chan, Mario Romandini, David T. W. Wong   +10 more
wiley   +1 more source