标题
A specific mutation inTBL1XR1causes Pierpont syndrome
作者
关键词
-
出版物
JOURNAL OF MEDICAL GENETICS
Volume 53, Issue 5, Pages 330-337
出版商
BMJ
发表日期
2016-01-15
DOI
10.1136/jmedgenet-2015-103233
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。- De novo deletion ofTBL1XR1in a child with non-specific developmental delay supports its implication in intellectual disability
- (2014) Anne-Claude Tabet et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- A new syndrome of intellectual disability with dysmorphism due toTBL1XR1deletion
- (2014) Linda Pons et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Novel TBL1XR1, EPHA7 and SLFN12 mutations in a Sezary syndrome patient discovered by whole exome sequencing
- (2014) Emma Andersson et al. EXPERIMENTAL DERMATOLOGY
- TBL1XR1 promotes lymphangiogenesis and lymphatic metastasis in esophageal squamous cell carcinoma
- (2014) Liping Liu et al. GUT
- A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation
- (2014) Hirotomo Saitsu et al. JOURNAL OF HUMAN GENETICS
- Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency
- (2014) Joe C H Sim et al. Orphanet Journal of Rare Diseases
- Expression of 11β-Hydroxysteroid Dehydrogenase Type 1 in the Human Hypothalamus
- (2013) P. H. Bisschop et al. JOURNAL OF NEUROENDOCRINOLOGY
- Recurrent Mutations of MYD88 and TBL1XR1 in Primary Central Nervous System Lymphomas
- (2012) A. Gonzalez-Aguilar et al. CLINICAL CANCER RESEARCH
- Choroid plexus papilloma and Pierpont syndrome
- (2012) Sudhakar Vadivelu et al. Journal of Neurosurgery-Pediatrics
- Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
- (2012) Brian J. O’Roak et al. NATURE
- A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases
- (2012) Miao-Xin Li et al. NUCLEIC ACIDS RESEARCH
- Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
- (2012) B. J. O'Roak et al. SCIENCE
- Chromosomal loss of 3q26.3-3q26.32, involving a partial neuroligin 1 deletion, identified by genomic microarray in a child with microcephaly, seizure disorder, and severe intellectual disability
- (2011) Alison Millson et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Pierpont syndrome: A collaborative study
- (2011) Emma M.M. Burkitt Wright et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Primary Central Nervous System Lymphomas: A Validation Study of Array-Based Comparative Genomic Hybridization in Formalin-Fixed Paraffin-Embedded Tumor Specimens
- (2011) E. Braggio et al. CLINICAL CANCER RESEARCH
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- Structural basis for the assembly of the SMRT/NCoR core transcriptional repression machinery
- (2011) Jasmeen Oberoi et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- Identification of Novel Gene Amplifications in Breast Cancer and Coexistence of Gene Amplification with an Activating Mutation of PIK3CA
- (2009) M. Kadota et al. CANCER RESEARCH
- The complex genomic profile ofETV6-RUNX1positive acute lymphoblastic leukemia highlights a recurrent deletion ofTBL1XR1
- (2008) Helen Parker et al. GENES CHROMOSOMES & CANCER
- TBL1–TBLR1 and β-catenin recruit each other to Wnt target-gene promoter for transcription activation and oncogenesis
- (2008) Jiong Li et al. NATURE CELL BIOLOGY
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started