Yield of array‐CGH analysis in Tunisian children with autism spectrum disorder

F Chehbani, P Tomaiuolo, C Picinelli… - Molecular genetics & …, 2022 - Wiley Online Library
Background Autism spectrum disorder (ASD) is a neurodevelopmental disorder with strong
genetic underpinnings. Microarray‐based comparative genomic hybridization (aCGH) …

Mice with mutations in Trpm1, a gene in the locus of 15q13.3 microdeletion syndrome, display pronounced hyperactivity and decreased anxiety-like behavior

T Hori, S Ikuta, S Hattori, K Takao, T Miyakawa, C Koike - Molecular brain, 2021 - Springer
Abstract The 15q13. 3 microdeletion syndrome is a genetic disorder characterized by a wide
spectrum of psychiatric disorders that is caused by the deletion of a region containing 7 …

Синдром Прадера–Вилли с атипичной делецией 15q вследствие несбалансированной транслокации между хромосомами 13 и 15

НВ Шилова, МЕ Миньженкова… - Российский вестник …, 2024 - ped-perinatology.ru
Аннотация Синдром Прадера–Вилли (OMIM# 176270)—мультисистемное
заболевание, обусловленное различными генетическими механизмами: либо …

Mice with mutations in Trpm1, a gene within the locus of 15q13. 3 microdeletion syndrome, display pronounced hyperactivity and decreased anxiety-like behavior.

T Hori, S Ikuta, S Hattori, K Takao, T Miyakawa, C Koike - 2021 - researchsquare.com
Abstract 15q13. 3 microdeletion syndrome is a genetic disorder caused by a deletion of a
region containing seven genes on chromosome 15, MTMR10, FAN1, TRPM1, MIR211 …

[PDF][PDF] A Case Report of Angelman Syndrome

C Maragoto-Rizo, I González-González… - interventions, 2020 - researchgate.net
We describe a case of a female pediatric patient showing recurrent seizures, socialization
problems and speech development delay. She was born preterm, due to fetal heart rate …