Phenotypic variability among café-au-lait macules in neurofibromatosis type 1.

PubWeight™: 0.82‹?›

🔗 View Article (PMC 2922676)

Published in J Am Acad Dermatol on June 03, 2010

Authors

Kevin P Boyd1, Liyan Gao, Rui Feng, Mark Beasley, Ludwine Messiaen, Bruce R Korf, Amy Theos

Author Affiliations

1: Department of Dermatology, University of Alabama at Birmingham, Birmingham, Alabama, USA.

Articles cited by this

Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol (1988) 8.61

The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA (1997) 8.30

NF1 tumor suppressor gene function: narrowing the GAP. Cell (2001) 4.11

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat (2000) 3.87

Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics (2000) 1.79

Skin color measurements: comparison between three instruments: the Chromameter(R), the DermaSpectrometer(R) and the Mexameter(R). Skin Res Technol (2000) 1.62

Noninvasive techniques for the evaluation of skin color. J Am Acad Dermatol (2006) 1.43

Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1. Am J Hum Genet (2007) 1.33

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas. Hum Mutat (2006) 1.29

Genetic and cellular defects contributing to benign tumor formation in neurofibromatosis type 1. Hum Mol Genet (2000) 1.27

Neurofibromatosis 1: clinical manifestations and diagnostic criteria. J Child Neurol (2002) 1.24

Non-invasive measurements of skin pigmentation in situ. Pigment Cell Res (2004) 1.22

Melanotic macules in Albright's syndrome and in neurofibromatosis. JAMA (1968) 1.20

Café au lait spot in neurofibromatosis and in normal individuals. Arch Dermatol (1970) 1.12

The diagnostic value of café-au-lait macules. J Am Acad Dermatol (1999) 1.11

Neurofibromin as a regulator of melanocyte development and differentiation. J Cell Sci (2007) 0.97

Somatic mutation analysis in NF1 café au lait spots reveals two NF1 hits in the melanocytes. J Invest Dermatol (2007) 0.96

Neurofibromatosis of von Recklinghausen: a quantitative study of the epidermal keratinocyte and melanocyte populations. J Invest Dermatol (1984) 0.91

Café-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: hyperpigmentation of a different kind? Arch Dermatol Res (2006) 0.90

Clinical features and pathobiology of neurofibromatosis 1. J Child Neurol (2002) 0.88

Studies on café au lait spots in neurofibromatosis and pigmented macules of nevus spilus. Tohoku J Exp Med (1976) 0.85

Analysis of neurofibromatosis 1 (NF1) lesions by body segment. Am J Med Genet A (2004) 0.78

Articles by these authors

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med (2013) 22.73

Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med (2012) 4.04

Human chromosome 7: DNA sequence and biology. Science (2003) 3.02

Detection of gene x gene interactions in genome-wide association studies of human population data. Hum Hered (2007) 2.97

Proteasomal and genetic inactivation of the NF1 tumor suppressor in gliomagenesis. Cancer Cell (2009) 2.73

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet (2007) 2.55

Psychiatric genetics: a survey of psychiatrists' knowledge, opinions, and practice patterns. J Clin Psychiatry (2005) 2.46

Neurofibromatosis type 1. J Am Acad Dermatol (2009) 2.41

Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force. Genet Med (2002) 2.39

Preoperative anxiety and emergence delirium and postoperative maladaptive behaviors. Anesth Analg (2004) 2.37

Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion. Nat Genet (2006) 2.11

Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet (2008) 2.06

Antibiotic exposure and IBD development among children: a population-based cohort study. Pediatrics (2012) 2.04

Future health applications of genomics: priorities for communication, behavioral, and social sciences research. Am J Prev Med (2010) 1.98

NF1 is a tumor suppressor in neuroblastoma that determines retinoic acid response and disease outcome. Cell (2010) 1.81

Pathophysiology of neurofibromatosis type 1. Ann Intern Med (2006) 1.81

Cardiovascular risk factors in CKD associate with both ESRD and mortality. J Am Soc Nephrol (2013) 1.78

Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria. Am J Med Genet A (2013) 1.72

Deletion of the SLUG (SNAI2) gene results in human piebaldism. Am J Med Genet A (2003) 1.72

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am J Hum Genet (2003) 1.70

Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients. Hum Mol Genet (2006) 1.68

Phase 2 randomized, flexible crossover, double-blinded, placebo-controlled trial of the farnesyltransferase inhibitor tipifarnib in children and young adults with neurofibromatosis type 1 and progressive plexiform neurofibromas. Neuro Oncol (2014) 1.66

Variation in PTX3 is associated with primary graft dysfunction after lung transplantation. Am J Respir Crit Care Med (2012) 1.66

ANGPT2 genetic variant is associated with trauma-associated acute lung injury and altered plasma angiopoietin-2 isoform ratio. Am J Respir Crit Care Med (2011) 1.62

A new technique of vaginal reconstruction with the deep inferior epigastric perforator flap: a preliminary report. Plast Reconstr Surg (2007) 1.55

Elucidating distinct roles for NF1 in melanomagenesis. Cancer Discov (2012) 1.53

A functional synonymous coding variant in the IL1RN gene is associated with survival in septic shock. Am J Respir Crit Care Med (2014) 1.53

Neurofibromatosis type 1 protein and amyloid precursor protein interact in normal human melanocytes and colocalize with melanosomes. J Invest Dermatol (2006) 1.53

Genetic variation in the prostaglandin E2 pathway is associated with primary graft dysfunction. Am J Respir Crit Care Med (2014) 1.51

Testosterone suppresses hepcidin in men: a potential mechanism for testosterone-induced erythrocytosis. J Clin Endocrinol Metab (2010) 1.50

Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders. Am J Med Genet A (2011) 1.46

Regional admixture mapping and structured association testing: conceptual unification and an extensible general linear model. PLoS Genet (2006) 1.44

Endovascular management of pararenal aortic aneurysms with multiple overlapping uncovered stents. J Vasc Surg (2013) 1.44

Multiple overlapping bare stents for endovascular visceral aneurysm repair: a potential alternative endovascular strategy to multilayer stents. Ann Vasc Surg (2013) 1.41

Gastric Acid Suppressant Prophylaxis in Pediatric Intensive Care: Current Practice as Reflected in a Large Administrative Database. Pediatr Crit Care Med (2015) 1.41

Ambulatory visit rates and antibiotic prescribing for children with pneumonia, 1994-2007. Pediatrics (2011) 1.37

Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back. Am J Med Genet A (2010) 1.36

Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1. Hum Mutat (2004) 1.35

Genetic susceptibility to retinopathy of prematurity. Pediatrics (2006) 1.35

Quality of life in dermatomyositis. J Am Acad Dermatol (2011) 1.34

Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1. Am J Hum Genet (2007) 1.33

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas. Hum Mutat (2006) 1.29

Age-specific association of reduced estimated glomerular filtration rate and albuminuria with all-cause mortality. Clin J Am Soc Nephrol (2011) 1.26

Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2. Genes Chromosomes Cancer (2003) 1.26

The case for strategic international alliances to harness nutritional genomics for public and personal health. Br J Nutr (2005) 1.24

Bax expression is a candidate prognostic and predictive marker of colorectal cancer. J Gastrointest Oncol (2010) 1.24

Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2. Am J Med Genet A (2011) 1.24

Association of functional polymorphisms in CYP19A1 with aromatase inhibitor associated arthralgia in breast cancer survivors. Breast Cancer Res (2011) 1.23

The NF1 gene contains hotspots for L1 endonuclease-dependent de novo insertion. PLoS Genet (2011) 1.23

Competencies for the physician medical geneticist in the 21st century. Genet Med (2011) 1.21

Phosphorylation-coupled proteolysis of the transcription factor MYC2 is important for jasmonate-signaled plant immunity. PLoS Genet (2013) 1.19

Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. Am J Med Genet A (2005) 1.19

A methodological, systematic review of evidence-based independent risk factors for surgical site infections after spinal surgery. Eur Spine J (2012) 1.17

Review and update of SPRED1 mutations causing Legius syndrome. Hum Mutat (2012) 1.13

Genome wide association identifies PPFIA1 as a candidate gene for acute lung injury risk following major trauma. PLoS One (2012) 1.11

Genetic testing in cardiovascular disease. J Am Coll Cardiol (2007) 1.10

Low income and albuminuria among REGARDS (Reasons for Geographic and Racial Differences in Stroke) study participants. Am J Kidney Dis (2012) 1.09

Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice. Am J Hum Genet (2007) 1.06

The development of cutaneous neurofibromas. Am J Pathol (2011) 1.04

IL1RN coding variant is associated with lower risk of acute respiratory distress syndrome and increased plasma IL-1 receptor antagonist. Am J Respir Crit Care Med (2013) 1.03

Skin cancer incidence is highly associated with ultraviolet-B radiation history. Int J Hyg Environ Health (2010) 1.03

Pigment cell-related manifestations in neurofibromatosis type 1: an overview. Pigment Cell Res (2005) 1.01

A shift from nuclear to cytoplasmic breast cancer metastasis suppressor 1 expression is associated with highly proliferative estrogen receptor-negative breast cancers. Tumour Biol (2009) 1.01

Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association. Cancer Res (2009) 1.01

Impact of neurofibromatosis 1 on Quality of Life: a cross-sectional study of 176 American cases. Am J Med Genet A (2006) 1.00

Systematic Review and Meta-Analysis of Carotid Artery Stenting Versus Endarterectomy for Carotid Stenosis: A Chronological and Worldwide Study. Medicine (Baltimore) (2015) 1.00

Pathological splice mutations outside the invariant AG/GT splice sites of BRCA1 exon 5 increase alternative transcript levels in the 5' end of the BRCA1 gene. Oncogene (2002) 0.99

Single nucleotide polymorphisms affect both cis- and trans-eQTLs. Genomics (2009) 0.98

Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients. Genes Chromosomes Cancer (2006) 0.97

Distinct and replicable genetic risk factors for acute respiratory distress syndrome of pulmonary or extrapulmonary origin. J Med Genet (2012) 0.97

Impact of smoking in cutaneous lupus erythematosus. Arch Dermatol (2011) 0.97

Rib defects in patterns of multiple malformations: a retrospective review and phenotypic analysis of 47 cases. Am J Med Genet A (2003) 0.96

Somatic mutation analysis in NF1 café au lait spots reveals two NF1 hits in the melanocytes. J Invest Dermatol (2007) 0.96

Aberrant splicing in several human tumors in the tumor suppressor genes neurofibromatosis type 1, neurofibromatosis type 2, and tuberous sclerosis 2. Cancer Res (2002) 0.96

Evaluation of reliability, validity, and responsiveness of the CDASI and the CAT-BM. J Invest Dermatol (2012) 0.96

Developing a national collaborative study system for rare genetic diseases. Genet Med (2008) 0.95

Endoaortic stent grafting of a giant infected hepatic-celiac pseudoaneurysm. J Vasc Surg (2005) 0.95

Identification of PKHD1 multiexon deletions using multiplex ligation-dependent probe amplification and quantitative polymerase chain reaction. Genet Test Mol Biomarkers (2010) 0.94

Radiation-induced rhabdomyosarcoma of the brainstem in a patient with neurofibromatosis type 2. J Neurosurg (2010) 0.94

Curcumin induces mitochondria pathway mediated cell apoptosis in A549 lung adenocarcinoma cells. Oncol Rep (2010) 0.93

A bioinspired, reusable, paper-based system for high-performance large-scale evaporation. Adv Mater (2015) 0.92

Endovascular repair of ascending aortic dissection: a novel treatment option for patients judged unfit for direct surgical repair. J Am Coll Cardiol (2012) 0.92

Recommendations for imaging tumor response in neurofibromatosis clinical trials. Neurology (2013) 0.92

The human FOXL2 mutation database. Hum Mutat (2004) 0.91

Complex splicing pattern generates great diversity in human NF1 transcripts. BMC Genomics (2002) 0.91

A proteomic study of the aortic media in human thoracic aortic dissection: implication for oxidative stress. J Thorac Cardiovasc Surg (2008) 0.91

Congenital pseudarthrosis of neurofibromatosis type 1: impaired osteoblast differentiation and function and altered NF1 gene expression. Bone (2008) 0.90

Glaucoma medication adherence among African Americans: program development. Optom Vis Sci (2013) 0.90

Prognostic value of serial [18F]fluorodeoxyglucose PET-CT uptake in stage III patients with non-small cell lung cancer treated by concurrent chemoradiotherapy. Eur J Radiol (2009) 0.90

Café-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: hyperpigmentation of a different kind? Arch Dermatol Res (2006) 0.90

The use of murine-derived fundic organoids in studies of gastric physiology. J Physiol (2015) 0.90

Unconjugated bilirubin contributes to early inflammation and edema after intracerebral hemorrhage. J Cereb Blood Flow Metab (2010) 0.90

Quantification of NF1 transcripts reveals novel highly expressed splice variants. FEBS Lett (2002) 0.89

Associations of blood pressure with common factors among left-behind farmers in rural China: a cross-sectional study using quantile regression analysis. Medicine (Baltimore) (2015) 0.89

Stevens-Johnson syndrome in a boy with macrolide-resistant Mycoplasma pneumoniae pneumonia. Pediatrics (2011) 0.88

Optimizing biologically targeted clinical trials for neurofibromatosis. Expert Opin Investig Drugs (2013) 0.88

An interstitial deletion of chromosome 7 at band q21: a case report and review. Am J Med Genet A (2005) 0.87

Helicobacter pylori-induced Sonic Hedgehog expression is regulated by NFκB pathway activation: the use of a novel in vitro model to study epithelial response to infection. Helicobacter (2014) 0.87

Neurofibromin binds to caveolin-1 and regulates ras, FAK, and Akt. Biochem Biophys Res Commun (2006) 0.87