Results 211 to 220 of about 22,467,747 (285)

Feasibility of Functional Near‐Infrared Spectroscopy in Assessing Prefrontal Cortical Activation During Behaviour Inhibition in Williams Syndrome

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Williams syndrome (WS) is a genetic condition associated with neurodevelopmental disorders including intellectual disability and executive functioning (EF) deficits. Although neuroimaging methods may clarify the neural basis of these impairments, participant burden and frequent exclusion of individuals with lower cognitive abilities
Emma E. Condy, Maeve Sargeant, Audrey Thurm, Mark Levin, Amir Gandjbakhche, Beth A. Kozel   +5 more
wiley   +1 more source

Suspected burned-out ovarian germ cell tumor in Turner mosaicism: a diagnostic challenge-what is your diagnosis? [PDF]

J Turk Ger Gynecol Assoc
Setty A, Kumar N, Srirambhatla A, Palo S, Aparna J, Gurram D.   +5 more
europepmc   +1 more source

Expanding the Clinical Spectrum of DHX30‐Related Neurodevelopmental Disorder: A Case Report and a Scoping Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Whole exome sequencing (WES) has improved diagnostic rates for neurodevelopmental disorders (NDDs) while introducing challenges in novel variant interpretation. DHX30‐related NDD (DHX30‐NDD) is a recently described condition with an evolving phenotypic spectrum.
Nattaporn Tassanakijpanich, Areerat Hnoonual, Oradawan Plong‐On, Pornprot Limprasert   +3 more
wiley   +1 more source

Two Unrelated Families With Noncoding Duplications Upstream of MSX2 Refine the Critical Regulatory Region Likely Involved in Cranial Bone Development and a Cleidocranial Dysplasia-Like Phenotype. [PDF]

Hum Mutat
Yamada M, Cleghorn M, Krishnamurthy P, French T, Francis D, Kosaki K, Tan TY.   +6 more
europepmc   +1 more source

Transcriptomic profiling of subpopulations of mouse embryonic subplate neurons

Journal of Anatomy, EarlyView.
To study gene expression in subpopulations of cortical subplate neurons (Lpar1‐EGFP‐positive and D1B‐positive SpN clusters), we applied gene expression profiling, including bulk microarray analysis, single‐cell RNA sequencing (scRNA‐seq), and Visium spatial transcriptomics, and identified both overlapping and unique gene expression signatures ...
Hitomi Achiwa, Yuichiro Hara, Hideya Kawaji, Minori Oshima, Noe Kaneko, Ayumu Morioka, Anna Hoerder‐Suabedissen, Zoltán Molnár, Chiaki Ohtaka‐Maruyama   +8 more
wiley   +1 more source

Conundrum resolved by optical genome mapping in a 46,XY girl with difference in sex development and skeletal anomalies. [PDF]

JCEM Case Rep
Daghsni M, Guo F, Forsyth R, Reyes-Múgica M, Yatsenko SA, Witchel SF.   +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

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

Unmasking Mucopolysaccharidosis Type I in a Patient With Wolf-Hirschhorn Syndrome: Diagnostic Overshadowing. [PDF]

JIMD Rep
Cifuentes-Uribe K, Girard S, Froissart R, Pettazzoni M, Guffon N.   +4 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