标题
Prospective investigation of FOXP1 syndrome
作者
关键词
-
出版物
Molecular Autism
Volume 8, Issue 1, Pages -
出版商
Springer Nature
发表日期
2017-10-24
DOI
10.1186/s13229-017-0172-6
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。- Foxp1 expression is essential for sex-specific murine neonatal ultrasonic vocalization
- (2017) Henning Fröhlich et al. HUMAN MOLECULAR GENETICS
- Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
- (2017) Ryan K C Yuen et al. NATURE NEUROSCIENCE
- Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia
- (2017) Molecular Autism
- SUMOylation of FOXP1 regulates transcriptional repression via CtBP1 to drive dendritic morphogenesis
- (2017) Daniel L. Rocca et al. Scientific Reports
- Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene
- (2016) Mir Reza Bekheirnia et al. GENETICS IN MEDICINE
- HGVS Recommendations for the Description of Sequence Variants: 2016 Update
- (2016) Johan T. den Dunnen et al. HUMAN MUTATION
- FOXP2variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum
- (2016) Miriam S Reuter et al. JOURNAL OF MEDICAL GENETICS
- denovo-db: a compendium of humande novovariants
- (2016) Tychele N. Turner et al. NUCLEIC ACIDS RESEARCH
- 3p14 deletion is a rare contiguous gene syndrome: Report of 2 new patients and an overview of 14 patients
- (2015) B. I. Dimitrov et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Fenotipo clínico de una paciente con deleción de FOXP1
- (2015) T. Blanco Sánchez et al. ANALES DE PEDIATRIA
- Intrachromosomal 3p Insertion as a Cause of Reciprocal Pure Interstitial Deletion and Duplication in Two Siblings: Further Delineation of the Emerging Proximal 3p Deletion Syndrome
- (2015) Elisabet Lloveras et al. CYTOGENETIC AND GENOME RESEARCH
- A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment
- (2015) Reymundo Lozano et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Identification and functional characterization ofde novo FOXP1variants provides novel insights into the etiology of neurodevelopmental disorder
- (2015) Elliot Sollis et al. HUMAN MOLECULAR GENETICS
- Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability
- (2015) Detelina Grozeva et al. HUMAN MUTATION
- De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
- (2015) J. Homsy et al. SCIENCE
- Foxp1 Regulates Cortical Radial Migration and Neuronal Morphogenesis in Developing Cerebral Cortex
- (2015) Xue Li et al. PLoS One
- Clinical whole exome sequencing in child neurology practice
- (2014) Siddharth Srivastava et al. ANNALS OF NEUROLOGY
- Brain-specific Foxp1 deletion impairs neuronal development and causes autistic-like behaviour
- (2014) C Bacon et al. MOLECULAR PSYCHIATRY
- The contribution of de novo coding mutations to autism spectrum disorder
- (2014) Ivan Iossifov et al. NATURE
- FOXP1mutations cause intellectual disability and a recognizable phenotype
- (2013) Anna K. Le Fevre et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- 3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination
- (2013) Orazio Palumbo et al. GENE
- Genetic Abnormalities inFOXP1Are Associated with Congenital Heart Defects
- (2013) Sheng-Wei Chang et al. HUMAN MUTATION
- FoxP2 Regulates Neurogenesis during Embryonic Cortical Development
- (2013) D. Tsui et al. JOURNAL OF NEUROSCIENCE
- 3p Interstitial Deletion
- (2012) Andreea Cristina Ţuţulan-Cuniţă et al. JOURNAL OF CHILD NEUROLOGY
- Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
- (2011) Brian J O'Roak et al. NATURE GENETICS
- Solution structure and backbone dynamics of the DNA-binding domain of FOXP1: Insight into its domain swapping and DNA binding
- (2011) Yuan-Ping Chu et al. PROTEIN SCIENCE
- De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment
- (2010) Fadi F. Hamdan et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Chiari I malformation, delayed gross motor skills, severe speech delay and epileptiform discharges in a child with FOXP1 haploinsufficiency
- (2010) Christopher W Carr et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits
- (2010) Denise Horn et al. HUMAN MUTATION
- A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis
- (2009) Mitchel J. Pariani et al. European Journal of Medical Genetics
- Ultrasonic vocalization impairment of Foxp2 (R552H) knockin mice related to speech-language disorder and abnormality of Purkinje cells
- (2008) E. Fujita et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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