Published in Genet Med on August 15, 2002
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Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. Am J Hum Genet (2009) 2.50
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Spontaneous rupture of a dissecting aneurysm in the superior rectal artery of a patient with neurofibromatosis type 1: a case report. J Med Case Rep (2013) 0.75
Stent-assisted Coil Embolization of Petrous ICA in a Teenager with Neurofibromatosis. J Cerebrovasc Endovasc Neurosurg (2015) 0.75
Fatal retroperitoneal bleeding caused by neurofibromatosis: a case report and review of the literature. Case Rep Med (2015) 0.75
Rupture of the Left External Iliac Artery and Right Groin Pseudoaneurysm Formation following Angioplasty in a Patient with Neurofibromatosis Type 1 and Undiagnosed Bilateral Phaeochromocytoma. Case Rep Radiol (2013) 0.75
Pulmonary arterial hypertension associated with neurofibromatosis type 1. BMJ Case Rep (2010) 0.75
Nf1+/- monocytes/macrophages induce neointima formation via CCR2 activation. Hum Mol Genet (2016) 0.75
Neurofibromatosis type 1-associated hypertension secondary to coarctation of the thoracic aorta. Clin Kidney J (2014) 0.75
Spontaneous Renal Artery Dissection in a Patient with Neurofibromatosis Type I. Case Rep Cardiol (2016) 0.75
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Subtypes of medulloblastoma have distinct developmental origins. Nature (2010) 5.94
Astrocytes as determinants of disease progression in inherited amyotrophic lateral sclerosis. Nat Neurosci (2008) 5.89
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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet (2012) 4.51
International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis. Cancer Res (2002) 4.27
First-trimester use of selective serotonin-reuptake inhibitors and the risk of birth defects. N Engl J Med (2007) 4.25
Interconversion between intestinal stem cell populations in distinct niches. Science (2011) 4.23
Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med (2012) 4.04
Guidelines for case classification for the National Birth Defects Prevention Study. Birth Defects Res A Clin Mol Teratol (2003) 3.75
Hdac2 regulates the cardiac hypertrophic response by modulating Gsk3 beta activity. Nat Med (2007) 3.61
Medicine residents' understanding of the biostatistics and results in the medical literature. JAMA (2007) 3.61
Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation. Nat Med (2004) 3.55
Neurofibromatosis 2. Curr Opin Neurol (2003) 3.46
Transfers of patient care between house staff on internal medicine wards: a national survey. Arch Intern Med (2006) 3.43
Astrocyte-specific TSC1 conditional knockout mice exhibit abnormal neuronal organization and seizures. Ann Neurol (2002) 3.37
PlexinD1 and semaphorin signaling are required in endothelial cells for cardiovascular development. Dev Cell (2004) 3.24
Neurofibromatosis type 1 revisited. Pediatrics (2009) 3.06
Distinct genetic signatures among pilocytic astrocytomas relate to their brain region origin. Cancer Res (2007) 3.05
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
Sex Is a major determinant of neuronal dysfunction in neurofibromatosis type 1. Ann Neurol (2014) 3.01
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Smooth muscle cells, but not myocytes, of host origin in transplanted human hearts. Circulation (2002) 2.93
Cardiac hypertrophy and histone deacetylase-dependent transcriptional repression mediated by the atypical homeodomain protein Hop. J Clin Invest (2003) 2.76
Optic pathway gliomas in neurofibromatosis-1: controversies and recommendations. Ann Neurol (2007) 2.75
Pten loss causes hypertrophy and increased proliferation of astrocytes in vivo. Cancer Res (2004) 2.75
Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies. Birth Defects Res A Clin Mol Teratol (2007) 2.69
Astrocyte-specific inactivation of the neurofibromatosis 1 gene (NF1) is insufficient for astrocytoma formation. Mol Cell Biol (2002) 2.65
Neurofibromin regulation of ERK signaling modulates GABA release and learning. Cell (2008) 2.65
Nf1 has an essential role in endothelial cells. Nat Genet (2002) 2.63
Semaphorin-plexin signaling guides patterning of the developing vasculature. Dev Cell (2004) 2.62
Hepatic HIF-2 regulates erythropoietic responses to hypoxia in renal anemia. Blood (2010) 2.57
Oncogenic BRAF mutation with CDKN2A inactivation is characteristic of a subset of pediatric malignant astrocytomas. Cancer Res (2010) 2.56
Endothelial expression of the Notch ligand Jagged1 is required for vascular smooth muscle development. Proc Natl Acad Sci U S A (2008) 2.55
Hop is an unusual homeobox gene that modulates cardiac development. Cell (2002) 2.52
Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol. Am J Med Genet (2002) 2.50
Insertion of Cre into the Pax3 locus creates a new allele of Splotch and identifies unexpected Pax3 derivatives. Dev Biol (2005) 2.49
Getting your Pax straight: Pax proteins in development and disease. Trends Genet (2002) 2.48
Psychiatric genetics: a survey of psychiatrists' knowledge, opinions, and practice patterns. J Clin Psychiatry (2005) 2.46
Inhibition of histone deacetylation blocks cardiac hypertrophy induced by angiotensin II infusion and aortic banding. Circulation (2005) 2.44
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Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet (2005) 2.40
Pax3 functions at a nodal point in melanocyte stem cell differentiation. Nature (2005) 2.37
The multifaceted role of Notch in cardiac development and disease. Nat Rev Genet (2008) 2.32
Biomarker system for studying muscle, stem cells, and cancer in vivo. FASEB J (2009) 2.31
Optic nerve glioma in mice requires astrocyte Nf1 gene inactivation and Nf1 brain heterozygosity. Cancer Res (2003) 2.30
Semaphorin-PlexinD1 signaling limits angiogenic potential via the VEGF decoy receptor sFlt1. Dev Cell (2011) 2.23
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet (2005) 2.22
An essential role for Notch in neural crest during cardiovascular development and smooth muscle differentiation. J Clin Invest (2007) 2.09
Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet (2008) 2.06
Distinct compartments of the proepicardial organ give rise to coronary vascular endothelial cells. Dev Cell (2012) 2.06
Proteomic analysis reveals hyperactivation of the mammalian target of rapamycin pathway in neurofibromatosis 1-associated human and mouse brain tumors. Cancer Res (2005) 2.02
Somitic origin of limb muscle satellite and side population cells. Proc Natl Acad Sci U S A (2006) 2.01
Transcriptional genomics associates FOX transcription factors with human heart failure. Circulation (2006) 2.00
Cardiac outflow tract defects in mice lacking ALK2 in neural crest cells. Development (2004) 1.99
Future health applications of genomics: priorities for communication, behavioral, and social sciences research. Am J Prev Med (2010) 1.98
Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage. Hum Mol Genet (2004) 1.95
Calcineurin is required in urinary tract mesenchyme for the development of the pyeloureteral peristaltic machinery. J Clin Invest (2004) 1.95
A microfabricated platform to measure and manipulate the mechanics of engineered cardiac microtissues. Tissue Eng Part A (2012) 1.95
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. Am J Med Genet A (2006) 1.94
Rapid 3D phenotyping of cardiovascular development in mouse embryos by micro-CT with iodine staining. Circ Cardiovasc Imaging (2010) 1.94
Homeobox protein Hop functions in the adult cardiac conduction system. Circ Res (2005) 1.93
Neurofibromatosis-1 regulates neuronal and glial cell differentiation from neuroglial progenitors in vivo by both cAMP- and Ras-dependent mechanisms. Cell Stem Cell (2007) 1.92
Histone-deacetylase inhibition reverses atrial arrhythmia inducibility and fibrosis in cardiac hypertrophy independent of angiotensin. J Mol Cell Cardiol (2008) 1.90
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat (2010) 1.88
Inactivation of NF1 in CNS causes increased glial progenitor proliferation and optic glioma formation. Development (2005) 1.85
Pathophysiology of neurofibromatosis type 1. Ann Intern Med (2006) 1.81
Neurofibromatosis-1 (Nf1) heterozygous brain microglia elaborate paracrine factors that promote Nf1-deficient astrocyte and glioma growth. Hum Mol Genet (2007) 1.80
Large-scale molecular comparison of human schwann cells to malignant peripheral nerve sheath tumor cell lines and tissues. Cancer Res (2006) 1.80
TFAP2A mutations result in branchio-oculo-facial syndrome. Am J Hum Genet (2008) 1.79
RBP-J (Rbpsuh) is essential to maintain muscle progenitor cells and to generate satellite cells. Proc Natl Acad Sci U S A (2007) 1.78
Cardiac neural crest. Semin Cell Dev Biol (2005) 1.77
Essential role of Sox9 in the pathway that controls formation of cardiac valves and septa. Proc Natl Acad Sci U S A (2004) 1.77
Deletion of GSK-3beta in mice leads to hypertrophic cardiomyopathy secondary to cardiomyoblast hyperproliferation. J Clin Invest (2008) 1.76
Histone deacetylase inhibition reduces myocardial ischemia-reperfusion injury in mice. FASEB J (2008) 1.76
Hdac1 and Hdac2 act redundantly to control p63 and p53 functions in epidermal progenitor cells. Dev Cell (2010) 1.75
Deletion of the SLUG (SNAI2) gene results in human piebaldism. Am J Med Genet A (2003) 1.72
Impaired glial glutamate transport in a mouse tuberous sclerosis epilepsy model. Ann Neurol (2003) 1.72
Myocardin-related transcription factor B is required in cardiac neural crest for smooth muscle differentiation and cardiovascular development. Proc Natl Acad Sci U S A (2005) 1.70
Fog2 is required for normal diaphragm and lung development in mice and humans. PLoS Genet (2005) 1.69
Spatiotemporal differences in CXCL12 expression and cyclic AMP underlie the unique pattern of optic glioma growth in neurofibromatosis type 1. Cancer Res (2007) 1.69
Atrioventricular cushion transformation is mediated by ALK2 in the developing mouse heart. Dev Biol (2005) 1.69
Myocardial Notch signaling reprograms cardiomyocytes to a conduction-like phenotype. Circulation (2012) 1.66
Nucleophosmin mediates mammalian target of rapamycin-dependent actin cytoskeleton dynamics and proliferation in neurofibromin-deficient astrocytes. Cancer Res (2007) 1.65
Retrotransposons and their recognition of pol II promoters: a comprehensive survey of the transposable elements from the complete genome sequence of Schizosaccharomyces pombe. Genome Res (2003) 1.63
Nectin-like proteins mediate axon Schwann cell interactions along the internode and are essential for myelination. J Cell Biol (2007) 1.63
Integrative genomic analysis identifies NDRG2 as a candidate tumor suppressor gene frequently inactivated in clinically aggressive meningioma. Cancer Res (2005) 1.63
Myocardin regulates expression of contractile genes in smooth muscle cells and is required for closure of the ductus arteriosus in mice. J Clin Invest (2008) 1.63
Lack of extracellular signal-regulated kinase mitogen-activated protein kinase signaling shows a new type of melanoma. Cancer Res (2007) 1.62
Optimization of direct fibroblast reprogramming to cardiomyocytes using calcium activity as a functional measure of success. J Mol Cell Cardiol (2013) 1.61
Serine 518 phosphorylation modulates merlin intramolecular association and binding to critical effectors important for NF2 growth suppression. Oncogene (2004) 1.61
MDQC: a new quality assessment method for microarrays based on quality control reports. Bioinformatics (2007) 1.61
Protein 4.1 tumor suppressors: getting a FERM grip on growth regulation. J Cell Sci (2002) 1.59
Pax3 regulation of FGF signaling affects the progression of embryonic progenitor cells into the myogenic program. Genes Dev (2008) 1.59
Immunohistochemical analysis supports a role for INI1/SMARCB1 in hereditary forms of schwannomas, but not in solitary, sporadic schwannomas. Brain Pathol (2008) 1.59
Lymphatic endothelial progenitors bud from the cardinal vein and intersomitic vessels in mammalian embryos. Blood (2012) 1.56