Published in Hum Mutat on October 01, 2006
Subtype-specific genomic alterations define new targets for soft-tissue sarcoma therapy. Nat Genet (2010) 6.10
Neurofibromatosis type 1. J Am Acad Dermatol (2009) 2.41
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet (2006) 2.23
How does the Schwann cell lineage form tumors in NF1? Glia (2008) 1.63
Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex. Hum Genet (2010) 1.34
Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1. Am J Hum Genet (2007) 1.33
The pathoetiology of neurofibromatosis 1. Am J Pathol (2011) 1.13
The development of cutaneous neurofibromas. Am J Pathol (2011) 1.04
Nonredundant functions for Ras GTPase-activating proteins in tissue homeostasis. Sci Signal (2013) 1.03
Neurofibroma-associated macrophages play roles in tumor growth and response to pharmacological inhibition. Acta Neuropathol (2012) 1.03
The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas. Neurogenetics (2009) 1.02
Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH. Hum Mutat (2011) 1.01
What's new in the neuro-cardio-facial-cutaneous syndromes? Eur J Pediatr (2007) 0.99
Perinatal or adult Nf1 inactivation using tamoxifen-inducible PlpCre each cause neurofibroma formation. Cancer Res (2011) 0.98
PTEN and NF1 inactivation in Schwann cells produces a severe phenotype in the peripheral nervous system that promotes the development and malignant progression of peripheral nerve sheath tumors. Cancer Res (2012) 0.94
Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden. Neurogenetics (2010) 0.91
Pathogenesis of plexiform neurofibroma: tumor-stromal/hematopoietic interactions in tumor progression. Annu Rev Pathol (2011) 0.91
Conditional Inactivation of Pten with EGFR Overexpression in Schwann Cells Models Sporadic MPNST. Sarcoma (2012) 0.90
Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas. Eur J Hum Genet (2011) 0.86
Somatic alterations of the NF1 gene in an NF1 individual with multiple benign tumours (internal and external) and malignant tumour types. Fam Cancer (2007) 0.86
Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients. Eur J Hum Genet (2010) 0.85
Phenotypic variability among café-au-lait macules in neurofibromatosis type 1. J Am Acad Dermatol (2010) 0.82
Mutation screening in a Norwegian cohort with pheochromocytoma. Fam Cancer (2013) 0.78
Neurofibromatosis type 1 and pregnancy: The transformation of a nodular to cystic neurofibroma in the cervical region. Surg Neurol Int (2015) 0.75
Statins, bone, and neurofibromatosis type 1. BMC Med (2008) 0.75
Skin-derived precursor cells as an in vitro modelling tool for the study of type 1 neurofibromatosis. Stem Cells Int (2012) 0.75
The primacy of NF1 loss as the driver of tumorigenesis in neurofibromatosis type 1-associated plexiform neurofibromas. Oncogene (2017) 0.75
Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes. Genome Biol (2002) 82.19
The MIQE guidelines: minimum information for publication of quantitative real-time PCR experiments. Clin Chem (2009) 40.90
qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data. Genome Biol (2007) 16.15
Promoting coherent minimum reporting guidelines for biological and biomedical investigations: the MIBBI project. Nat Biotechnol (2008) 12.96
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Identification of ALK as a major familial neuroblastoma predisposition gene. Nature (2008) 7.38
miR-9, a MYC/MYCN-activated microRNA, regulates E-cadherin and cancer metastasis. Nat Cell Biol (2010) 6.67
A novel and universal method for microRNA RT-qPCR data normalization. Genome Biol (2009) 6.25
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet (2010) 5.72
Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer. Nat Genet (2012) 5.28
Elimination of primer-dimer artifacts and genomic coamplification using a two-step SYBR green I real-time RT-PCR. Anal Biochem (2002) 4.54
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet (2003) 4.44
Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A (2011) 4.27
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat Genet (2004) 4.09
How to do successful gene expression analysis using real-time PCR. Methods (2009) 3.99
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat (2007) 3.93
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet (2005) 3.55
The NF1 tumor suppressor critically regulates TSC2 and mTOR. Proc Natl Acad Sci U S A (2005) 3.49
Duplication of the MYB oncogene in T cell acute lymphoblastic leukemia. Nat Genet (2007) 3.48
The digital MIQE guidelines: Minimum Information for Publication of Quantitative Digital PCR Experiments. Clin Chem (2013) 3.38
Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial. Lancet (2010) 3.36
An oncogene-tumor suppressor cascade drives metastatic prostate cancer by coordinately activating Ras and nuclear factor-kappaB. Nat Med (2010) 3.09
Predicting outcomes for children with neuroblastoma using a multigene-expression signature: a retrospective SIOPEN/COG/GPOH study. Lancet Oncol (2009) 3.07
RTPrimerDB: the real-time PCR primer and probe database. Nucleic Acids Res (2003) 3.06
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet (2004) 2.97
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet (2006) 2.94
Amphiregulin and epiregulin mRNA expression in primary tumors predicts outcome in metastatic colorectal cancer treated with cetuximab. J Clin Oncol (2009) 2.92
Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity. J Invest Dermatol (2006) 2.76
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet (2007) 2.74
Proteasomal and genetic inactivation of the NF1 tumor suppressor in gliomagenesis. Cancer Cell (2009) 2.73
Selection and validation of a set of reliable reference genes for quantitative sod gene expression analysis in C. elegans. BMC Mol Biol (2008) 2.73
RDML: structured language and reporting guidelines for real-time quantitative PCR data. Nucleic Acids Res (2009) 2.72
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. JAMA (2009) 2.72
High-throughput stem-loop RT-qPCR miRNA expression profiling using minute amounts of input RNA. Nucleic Acids Res (2008) 2.71
PHF6 mutations in T-cell acute lymphoblastic leukemia. Nat Genet (2010) 2.66
Rapid detection of VHL exon deletions using real-time quantitative PCR. Lab Invest (2005) 2.61
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet (2007) 2.55
Standardization of real-time PCR gene expression data from independent biological replicates. Anal Biochem (2008) 2.46
Accurate and objective copy number profiling using real-time quantitative PCR. Methods (2010) 2.43
LNCipedia: a database for annotated human lncRNA transcript sequences and structures. Nucleic Acids Res (2012) 2.40
The miR-17-92 microRNA cluster regulates multiple components of the TGF-β pathway in neuroblastoma. Mol Cell (2010) 2.38
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet (2005) 2.37
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat Genet (2012) 2.34
Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. J Med Genet (2007) 2.32
Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. Lancet Oncol (2009) 2.32
Overall genomic pattern is a predictor of outcome in neuroblastoma. J Clin Oncol (2009) 2.21
Selection of reference genes for quantitative real-time PCR in bovine preimplantation embryos. BMC Dev Biol (2005) 2.14
Expression analyses identify MLL as a prominent target of 11q23 amplification and support an etiologic role for MLL gain of function in myeloid malignancies. Blood (2003) 2.13
RTPrimerDB: the real-time PCR primer and probe database, major update 2006. Nucleic Acids Res (2006) 2.11
Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion. Nat Genet (2006) 2.11
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat (2003) 2.10
MicroRNA expression profiling to identify and validate reference genes for relative quantification in colorectal cancer. BMC Cancer (2010) 2.10
Antitumor activity of the selective MDM2 antagonist nutlin-3 against chemoresistant neuroblastoma with wild-type p53. J Natl Cancer Inst (2009) 2.09
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. Hum Mol Genet (2002) 2.07
Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis. J Histochem Cytochem (2005) 2.05
Muscle mass, muscle strength, functional performance, and physical impairment in women with the hypermobility type of Ehlers-Danlos syndrome. Arthritis Care Res (Hoboken) (2012) 2.01
Compound heterozygous mutations of the TNXB gene cause primary myopathy. Neuromuscul Disord (2013) 2.01
Ophthalmological assessment of children with neurofibromatosis type 1. Eur J Pediatr (2013) 1.99
A cooperative microRNA-tumor suppressor gene network in acute T-cell lymphoblastic leukemia (T-ALL). Nat Genet (2011) 1.99
Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants. J Am Coll Cardiol (2012) 1.98
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nat Genet (2002) 1.96
LIN28B induces neuroblastoma and enhances MYCN levels via let-7 suppression. Nat Genet (2012) 1.96
RTPrimerDB: the portal for real-time PCR primers and probes. Nucleic Acids Res (2008) 1.95
Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. Genet Med (2010) 1.94
The TLX1 oncogene drives aneuploidy in T cell transformation. Nat Med (2010) 1.93