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。Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib
Gabriel Morin et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2022)
Non-beta blocker enantiomers of propranolol and atenolol inhibit vasculogenesis in infantile hemangioma
Caroline T. Seebauer et al.
JOURNAL OF CLINICAL INVESTIGATION (2022)
Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum
Victoria E. R. Parker et al.
GENETICS IN MEDICINE (2019)
Overgrowth syndromes - clinical and molecular aspects and tumour risk
Frederic Brioude et al.
NATURE REVIEWS ENDOCRINOLOGY (2019)
Molecular diagnosis of somatic overgrowth conditions: A single-center experience
Emilie Lalonde et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2019)
Alpelisib Treatment for Genital Vascular Malformation in a Patient with Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Spinal/Skeletal Anomalies and/or Scoliosis (CLOVES) Syndrome
Juan Carlos Lopez Gutierrez et al.
JOURNAL OF PEDIATRIC AND ADOLESCENT GYNECOLOGY (2019)
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay
Marcella Zollino et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2019)
Approach to overgrowth syndromes in the genome era
Deepika D. Burkardt et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2019)
COSMIC: the Catalogue Of Somatic Mutations In Cancer
John G. Tate et al.
NUCLEIC ACIDS RESEARCH (2019)
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy
Lara Al-Olabi et al.
JOURNAL OF CLINICAL INVESTIGATION (2018)
Targeted therapy in patients with PIK3CA-related overgrowth syndrome
Quitterie Venot et al.
NATURE (2018)
Propranolol inhibits the activity of PI3K, AKT, and HIF-1 alpha in infantile hemangiomas
Zhenying Lin et al.
PEDIATRIC SURGERY INTERNATIONAL (2018)
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing
Paul Kuentz et al.
GENETICS IN MEDICINE (2017)
Downregulation of miR-382 by propranolol inhibits the progression of infantile hemangioma via the PTEN-mediated AKT/mTOR pathway
Dongfan Li et al.
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE (2017)
Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations
Julie Soblet et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2017)
Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies
Kim M. Keppler-Noreuil et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2016)
AS160 controls eukaryotic cell cycle and proliferation by regulating the CDK inhibitor p21
Pianchou Gongpan et al.
CELL CYCLE (2016)
Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing
Lan Qin et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2016)
Initial Experience With Propranolol Treatment of Lymphatic Anomalies: A Case Series
June K. Wu et al.
PEDIATRICS (2016)
Endothelial Cells from Capillary Malformations Are Enriched for Somatic GNAQ Mutations
Javier A. Couto et al.
PLASTIC AND RECONSTRUCTIVE SURGERY (2016)
Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma
Marios Giannakis et al.
CELL REPORTS (2016)
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution
Ghayda Mirzaa et al.
JCI INSIGHT (2016)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene
Elisa Contini et al.
PLOS ONE (2015)
Targeting MKK3 as a novel anticancer strategy: molecular mechanisms and therapeutical implications
S. Baldari et al.
CELL DEATH & DISEASE (2015)
PIK3CA-Related Overgrowth Spectrum (PROS): Diagnostic and Testing Eligibility Criteria, Differential Diagnosis, and Evaluation
Kim M. Keppler-Noreuil et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)
Successful treatment of a congenital extra-truncal vascular malformation by orally administered propranolol
Claudia Pfoehler et al.
JOURNAL OF DERMATOLOGICAL TREATMENT (2015)
The somatic GNAQ mutation c.548G > A (p.R183Q) is consistently found in Sturge-Weber syndrome
Mitsuko Nakashima et al.
JOURNAL OF HUMAN GENETICS (2014)
Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
Matthew D. Shirley et al.
NEW ENGLAND JOURNAL OF MEDICINE (2013)
Variable Somatic TIE2 Mutations in Half of Sporadic Venous Malformations
J. Soblet et al.
MOLECULAR SYNDROMOLOGY (2013)
Treatment of infantile haemangioma with captopril
S. T. Tan et al.
BRITISH JOURNAL OF DERMATOLOGY (2012)
A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome
Marjorie J. Lindhurst et al.
NEW ENGLAND JOURNAL OF MEDICINE (2011)
Frequent hyperphosphorylation of AS160 in breast cancer
Xiao-Hua Jiang et al.
CANCER BIOLOGY & THERAPY (2010)
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna et al.
GENOME RESEARCH (2010)
Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations
Nisha Limaye et al.
NATURE GENETICS (2009)
Rab GTPase-activating protein AS160 is a major downstream effector of protein kinase B/Akt signaling in pancreatic β-cells
Karim Bouzakri et al.
DIABETES (2008)
Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation
A. Loffeld et al.
BRITISH JOURNAL OF DERMATOLOGY (2006)
分享论文
