MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature
出版年份 2019 全文链接
标题
MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature
作者
关键词
-
出版物
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
Volume 32, Issue 4, Pages 409-413
出版商
Walter de Gruyter GmbH
发表日期
2019-04-07
DOI
10.1515/jpem-2018-0505
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity
- (2018) Carla Sustek D’Angelo et al. Molecular Cytogenetics
- A novel MYT1L mutation in a patient with severe early-onset obesity and intellectual disability
- (2018) Petra Loid et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus
- (2017) Patricia Blanchet et al. PLoS Genetics
- Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder
- (2015) Sonia Mayo et al. GENETICS IN MEDICINE
- Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity
- (2014) Nina De Rocker et al. GENETICS IN MEDICINE
- A new patient with a terminal de novo 2p25.3 deletion of 1.9 Mb associated with early-onset of obesity, intellectual disabilities and hyperkinetic disorder
- (2014) Maria Bonaglia et al. Molecular Cytogenetics
- Spatiotemporal expression pattern of Myt/NZF family zinc finger transcription factors during mouse nervous system development
- (2013) Fumio Matsushita et al. DEVELOPMENTAL DYNAMICS
- Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes
- (2013) Martine Doco-Fenzy et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Rare variants in single-minded 1 (SIM1) are associated with severe obesity
- (2013) Shwetha Ramachandrappa et al. JOURNAL OF CLINICAL INVESTIGATION
- Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH
- (2012) M Rio et al. CLINICAL GENETICS
- Microduplications disrupting the MYT1L gene (2p25.3) are associated with schizophrenia
- (2012) Yohan Lee et al. PSYCHIATRIC GENETICS
- The obesity gene, TMEM18, is of ancient origin, found in majority of neuronal cells in all major brain regions and associated with obesity in severely obese children
- (2010) Markus Sällman Almén et al. BMC Medical Genetics
- A novel presentation of a rare chromosome 2p25.2 deletion
- (2010) Kristin Becker et al. CLINICAL DYSMORPHOLOGY
- Direct conversion of fibroblasts to functional neurons by defined factors
- (2010) Thomas Vierbuchen et al. NATURE
- Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
- (2010) Elizabeth K Speliotes et al. NATURE GENETICS
- Common SNPs in Myelin Transcription Factor 1-Like (MYT1L): Association with Major Depressive Disorder in the Chinese Han Population
- (2010) Ti Wang et al. PLoS One
- The genetic contribution to non-syndromic human obesity
- (2009) Andrew J. Walley et al. NATURE REVIEWS GENETICS
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