Zobrazeno 1 - 10
of 2 440
pro vyhledávání: '"Global developmental delay"'
Autor:
Sorina-Mihaela Papuc, Adelina Glangher, Alina Erbescu, Oana Tarta Arsene, Aurora Arghir, Magdalena Budisteanu
Publikováno v:
Italian Journal of Pediatrics, Vol 50, Iss 1, Pp 1-8 (2024)
Abstract Background The Coiled-Coil Domain-Containing Protein 88 A (CCDC88A) gene encodes the actin-binding protein Girdin, which plays important roles in maintaining the actin cytoskeleton and in cell migration and was recently associated with a spe
Externí odkaz:
https://doaj.org/article/49a781ad69ec41869fe96efee47f0355
Publikováno v:
Pediatric Investigation, Vol 8, Iss 3, Pp 201-208 (2024)
ABSTRACT Importance Understanding the significance of motor skills in promoting physical fitness (PF) can offer valuable insights for devising comprehensive intervention and clinical rehabilitation programs for children with global developmental dela
Externí odkaz:
https://doaj.org/article/c1d3f37aa198458092a13252ad8c8004
Autor:
Liena Elbaghir Omer Elsayed, Norah Ayed AlHarbi, Ashwaq Mohammed Alqarni, Huda Hussein Elwasila Eltayeb, Noura Mostafa Mohamed Mostafa, Maha Mohammed Abdulrahim, Hadeel Ibrahim Bin Zaid, Latifah Mansour Alanzi, Sarah Abdullah Ababtain, Khawlah Aldulaijan, Sheka Yagub Aloyouni, Moneeb Abdullah Kassem Othman, Mohammad Abdullah Alkheilewi, Adel Mohammed Binduraihem, Hadeel Abdollah Alrukban, Hiba Yousif Ahmed, Faten Abdullah AlRadini, Hadil Mohammad Alahdal, Aziza Mufareh Mushiba, Omaima Abdulazeem Alzaher
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-10 (2024)
Abstract Background Chromosome 16p11.2 deletions and duplications were found to be the second most common copy number variation (CNV) reported in cases with clinical presentation suggestive of chromosomal syndromes. Chromosome 16p11.2 deletion syndro
Externí odkaz:
https://doaj.org/article/c35507dced82439484a71711a4834fd0
Publikováno v:
罕见病研究, Vol 3, Iss 3, Pp 363-367 (2024)
Hiatt-Neu-Cooper neurodevelopmental syndrome(HINCONS), a rare neurodevelopmental disorder closely associated with a heterozygous mutation in the RALA gene on 7p14, is characterized by prominent intellectual disability or global developmental delay. C
Externí odkaz:
https://doaj.org/article/084f841710474a2c8e629b679aea045b
Autor:
Ruofei Lian, Gongao Wu, Falin Xu, Shichao Zhao, Mengchun Li, Haiyan Wang, Tianming Jia, Yan Dong
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-16 (2024)
Abstract Background Lamb-Shaffer syndrome (LAMSHF, OMIM: 616803) is a rare neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, which is attributed to haploinsufficiency by heterozy
Externí odkaz:
https://doaj.org/article/d42ed656e2144b70990d7d2cfe79fec2
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Objective: To investigate a case of neurodevelopmental disorder caused by mutation of FBXW7.Methods: Clinical data were collected from the patient, trio-WES (whole-exome sequencing) was performed on the patient and his parents (trio), and the results
Externí odkaz:
https://doaj.org/article/c3727d7b114b421eb12aff8138841bf9
Autor:
Gongao Wu, Ruofei Lian, Mengchun Li, Liang Jin, Tianming Jia, Lijun Wang, Ling Gan, Shichao Zhao, Ruirui Liang, Yan Dong
Publikováno v:
Heliyon, Vol 10, Iss 17, Pp e37258- (2024)
Background: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia (NEDSCAC), induced by MED27 gene, is an autosomal recessive rare disorder characterized by widespread developmental delay with varying degrees of intellectu
Externí odkaz:
https://doaj.org/article/d291989567bd4f2d9b93f3a2d618b019
Publikováno v:
Xin yixue, Vol 55, Iss 4, Pp 292-297 (2024)
Objective To analyze the clinical and genetic characteristics of three children with congenital heart defects, dysmorphic facial features and intellectual developmental disorders(CHDFIDD). Methods Three children presenting with CHDFIDD were enr
Externí odkaz:
https://doaj.org/article/b9a22e79884e4a1b85b1bd8c7b5b6dad
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children
Autor:
Khrystyna Shchubelka, Liudmyla Turova, Walter Wolfsberger, Kelly Kalanquin, Krista Williston, Oleksii Kurutsa, Anastasiia Makovetska, Yaroslava Hasynets, Violeta Mirutenko, Mykhailo Vakerych, Taras K Oleksyk
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-10 (2024)
Abstract Background Global developmental delay or intellectual disability usually accompanies various genetic disorders as a part of the syndrome, which may include seizures, autism spectrum disorder and multiple congenital abnormalities. Next-genera
Externí odkaz:
https://doaj.org/article/dadaca41394c4705b2a016f4565f2554
Autor:
Nuo Yang, Limin Chen, Yanfeng Zhang, Xuemei Wu, Yunpeng Hao, Fan Yang, Zuozhen Yang, Jianmin Liang
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-14 (2024)
Abstract Background NARS2 as a member of aminoacyl-tRNA synthetases was necessary to covalently join a specific tRNA to its cognate amino acid. Biallelic variants in NARS2 were reported with disorders such as Leigh syndrome, deafness, epilepsy, and s
Externí odkaz:
https://doaj.org/article/2f1dd24bad744bdd8695763bb9e76d51