Relations between selective mutism and speech sound disorder in children with 7q11. 23 duplication syndrome

SL Velleman, VN Guimaraes… - Journal of Speech …, 2024 - pubs.asha.org
Purpose: The aim of this study was to explore relations between speech sound disorder
severity and selective mutism in a group of children with 7q11. 23 duplication syndrome …

Extensive characterization of a Williams syndrome murine model shows Gtf2ird1‐mediated rescue of select sensorimotor tasks, but no effect on enhanced social …

KR Nygaard, SE Maloney, RG Swift… - Genes, Brain and …, 2023 - Wiley Online Library
Williams syndrome is a rare neurodevelopmental disorder exhibiting cognitive and
behavioral abnormalities, including increased social motivation, risk of anxiety and specific …

Early diagnostic indicators of childhood apraxia of speech in young children with 7q11. 23 duplication syndrome: preliminary findings

CI Abbiati, SL Velleman, MS Overby… - Clinical linguistics & …, 2023 - Taylor & Francis
Limited evidence for early indicators of childhood apraxia of speech (CAS) precludes
reliable diagnosis before 36 months, although a few prior studies have identified several …

Prenatal diagnosis, ultrasound findings and pregnancy outcome of 7q11. 23 deletion and duplication syndromes: what are the fetal features?

X Luo, H Niu, F Zhou, X Chen, Y Pei, W Liu… - BMC Pregnancy and …, 2024 - Springer
Objective Analyze the ultrasound findings, single nucleotide polymorphism array (SNP-
array) results, and pregnancy outcomes of fetuses with 7q11. 23 deletions and duplications …

Fetal congenital talipes equinovarus: genomic abnormalities and obstetric follow-up results

M Cai, J Lin, Y Que, L Xu, N Lin… - The Journal of Maternal …, 2024 - Taylor & Francis
Objective The etiology of congenital talipes equinovarus (CTEV) is unknown, and the
relationship between chromosome microdeletion/microduplication and fetal CTEV is rarely …

Extensive Behavioral Phenotyping of Williams Syndrome Locus Relevant Mouse Models to Assess Contributions of Oxytocin and Gtf2ird1

KR Nygaard - 2022 - search.proquest.com
Abstract The Williams Syndrome Critical Region (WSCR) at chromosome 7q11. 23 provides
a unique opportunity to untangle the relationship between genotype and phenotype in …