A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome
Published 2015 View Full Article
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Title
A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome
Authors
Keywords
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Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 24, Issue 6, Pages 889-894
Publisher
Springer Nature
Online
2015-10-07
DOI
10.1038/ejhg.2015.209
References
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Related references
Note: Only part of the references are listed.- Treg cells require the phosphatase PTEN to restrain TH1 and TFH cell responses
- (2015) Sharad Shrestha et al. NATURE IMMUNOLOGY
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- (2014) Hui Liang et al. Cell Metabolism
- Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy
- (2014) Yoshiko Murakami et al. PLoS Genetics
- Subcellular targeting and dynamic regulation of PTEN: implications for neuronal cells and neurological disorders
- (2014) Patricia Kreis et al. Frontiers in Molecular Neuroscience
- When Overgrowth Bumps Into Cancer: The PTEN-Opathies
- (2013) JESSICA MESTER et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Phosphatase and Tensin Homolog Deleted on Chromosome 10 (PTEN) Signaling Regulates Mitochondrial Biogenesis and Respiration via Estrogen-related Receptor α (ERRα)
- (2013) Yang Li et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- PTEN Inhibition to Facilitate Intrinsic Regenerative Outgrowth of Adult Peripheral Axons
- (2013) K. J. Christie et al. JOURNAL OF NEUROSCIENCE
- Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria
- (2013) R. Pilarski et al. JNCI-Journal of the National Cancer Institute
- Functional analysis of the protein phosphatase activity of PTEN
- (2012) Xiaoqun Catherine Zhang et al. BIOCHEMICAL JOURNAL
- Autoimmunity, Intestinal Lymphoid Hyperplasia, and Defects in Mucosal B-Cell Homeostasis in Patients With PTEN Hamartoma Tumor Syndrome
- (2012) Mario Heindl et al. GASTROENTEROLOGY
- Novel PTEN germline mutation in a family with mild phenotype: Difficulties in genetic counseling
- (2012) Tiffany Busa et al. GENE
- Pretreatment with phosphatase and tensin homolog deleted on chromosome 10 (PTEN) inhibitor SF1670 augments the efficacy of granulocyte transfusion in a clinically relevant mouse model
- (2011) Y. Li et al. BLOOD
- Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity
- (2011) R Abou Jamra et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- A Clinical Scoring System for Selection of Patients for PTEN Mutation Testing Is Proposed on the Basis of a Prospective Study of 3042 Probands
- (2010) Min-Han Tan et al. AMERICAN JOURNAL OF HUMAN GENETICS
- DISC1 Regulates New Neuron Development in the Adult Brain via Modulation of AKT-mTOR Signaling through KIAA1212
- (2009) Ju Young Kim et al. NEURON
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