A novel variant in BCL11B in an individual with neurodevelopmental delay: A case report
Sign Up to like & getrecommendations! Published in 2023 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2132
Abstract: B‐Cell CLL/Lymphoma 11B (BCL11B) is a C2H2 zinc finger transcription factor that has broad biological functions and is essential for the development of the immune system, neural system, cardiovascular system, dermis, and dentition. Variants of… read more here.
Keywords: novel variant; bcl11b individual; neurodevelopmental delay; individual neurodevelopmental ... See more keywords
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy
Sign Up to like & getrecommendations! Published in 2022 at "American Journal of Human Genetics"
DOI: 10.1016/j.ajhg.2022.02.007
Abstract: Ambrin Fatima, Jan Hoeber, Jens Schuster, Eriko Koshimizu, Carolina Maya-Gonzalez, Boris Keren, Cyril Mignot, Talia Akram, Zafar Ali, Satoko Miyatake, Junpei Tanigawa, Takayoshi Koike, Mitsuhiro Kato, Yoshiko Murakami, Uzma Abdullah, Muhammad Akhtar Ali, Rein Fadoul,… read more here.
Keywords: monoallelic allelic; neurodevelopmental delay; cause neurodevelopmental; ncdn cause ... See more keywords
Altered maternal immune networks are associated with adverse child neurodevelopment: Impact of alcohol consumption during pregnancy
Sign Up to like & getrecommendations! Published in 2018 at "Brain, Behavior, and Immunity"
DOI: 10.1016/j.bbi.2018.05.004
Abstract: Cytokines and chemokines are potent modulators of brain development and as such, dysregulation of the maternal immune system can result in deviations in the fetal cytokine balance, altering the course of typical brain development, and… read more here.
Keywords: maternal immune; child; alcohol; neurodevelopmental delay ... See more keywords
Association of whole blood essential metals with neurodevelopment among preschool children
Sign Up to like & getrecommendations! Published in 2024 at "Pediatric Research"
DOI: 10.1038/s41390-024-03729-9
Abstract: Essential metals may play roles in neurodevelopment. The aim was to evaluate the associations of magnesium (Mg), iron (Fe), copper (Cu), and zinc (Zn) levels with neurodevelopment among preschool children. The medical records of eligible… read more here.
Keywords: neurodevelopmental delay; essential metals; association; delay ... See more keywords
A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting
Sign Up to like & getrecommendations! Published in 2021 at "Human Genome Variation"
DOI: 10.1038/s41439-021-00148-8
Abstract: A recurrent ZSWIM6 variant, NM_020928.2:c.2737C>T [p.Arg913*], was identified in a Japanese male patient with severe neurodevelopmental delay, epilepsy, distinctive facial features, microcephaly, growth deficiency, abnormal behavior, and frequent vomiting but without frontonasal or limb malformations.… read more here.
Keywords: severe neurodevelopmental; zswim6 variant; patient severe; neurodevelopmental delay ... See more keywords
De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in drosophila.
Sign Up to like & getrecommendations! Published in 2022 at "Human molecular genetics"
DOI: 10.1093/hmg/ddac053
Abstract: BACKGROUND The endoplasmic reticulum (ER)-membrane protein complex (EMC) is a multi-protein transmembrane complex composed of 10 subunits that functions as a membrane-protein chaperone. Variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration. Multiple families… read more here.
Keywords: emc1 lead; neurodevelopmental delay; drosophila; variants emc1 ... See more keywords
BCKDK gene mutations as a rare condition responsible for comorbid neurodevelopmental delay, autism, and epilepsy: a case series of four patients
Sign Up to like & getrecommendations! Published in 2025 at "Annals of Medicine and Surgery"
DOI: 10.1097/ms9.0000000000003460
Abstract: Introduction: Mutations in the branched-chain keto-acid dehydrogenase kinase gene (BCKDK), leading to low plasma branched-chain amino acids (BCAAs) levels, have been reported as a contributor to comorbid intellectual disability, autism, epilepsy, and neurodevelopmental delay (NDD).… read more here.
Keywords: autism epilepsy; case series; autism; neurodevelopmental delay ... See more keywords
Association between birth weight and neurodevelopment at age 1–6 months: results from the Wuhan Healthy Baby Cohort
Sign Up to like & getrecommendations! Published in 2020 at "BMJ Open"
DOI: 10.1136/bmjopen-2019-031916
Abstract: Objective The association between birth weight and infants’ neurodevelopment is not well understood. We aimed to examine the impact of birth weight on neurodevelopment of infants at age 1–6 months using data from the Wuhan… read more here.
Keywords: birth; birth weight; cohort; motor ... See more keywords
Novel Unbalanced Translocations Affecting the Long Arms of Chromosomes 10 and 22 Cause Complex Syndromes with Very Severe Neurodevelopmental Delay, Speech Impairment, Autistic Behavior, and Epilepsy
Sign Up to like & getrecommendations! Published in 2017 at "Cytogenetic and Genome Research"
DOI: 10.1159/000471501
Abstract: Isolated abnormalities in terminal regions of chromosomes 10q and 22q were formerly described in patients affected by neuropsychological impairment, abnormal facies, and heterogeneous structural abnormalities of the body. Chromosomes 10q and 22q harbor important genes… read more here.
Keywords: severe neurodevelopmental; arms chromosomes; long arms; affecting long ... See more keywords
Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay.
Sign Up to like & getrecommendations! Published in 2023 at "Cytogenetic and genome research"
DOI: 10.1159/000528468
Abstract: Neurodevelopmental syndromes due to copy number variation are well-known clinical entities. While the numerical variation of gene-harboring regions has been widely investigated at both molecular and clinical levels, much less is understood about unbalanced expression… read more here.
Keywords: deletion; neurodevelopmental delay; long noncoding; heterozygous deletion ... See more keywords
15q24 Duplication: A Case Report of Neurodevelopmental Delay
Sign Up to like & getrecommendations! Published in 2024 at "Clinical Pediatrics"
DOI: 10.1177/00099228241296235
Abstract: Chromosomal rearrangements are structural anomalies that affect chromosomal architecture and can impact gene expression, genomic imprinting, or even generate de novo gene fusions, as seen in hematological chromosomal aberrations. Chromosomal rearrangements can be associated with… read more here.
Keywords: neurodevelopmental delay; case report; duplication case; 15q24 duplication ... See more keywords