Published in Am J Med Genet A on January 01, 2005
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet (2006) 4.23
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
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. Hum Mutat (2015) 1.61
Familial syndromes associated with intracranial tumours: a review. Childs Nerv Syst (2013) 1.38
Mortality associated with neurofibromatosis 1: a cohort study of 1895 patients in 1980-2006 in France. Orphanet J Rare Dis (2011) 1.16
Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1. Neuro Oncol (2008) 1.12
Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations? Hum Genomics (2012) 1.02
Assessment of pain and itch behavior in a mouse model of neurofibromatosis type 1. J Pain (2013) 0.81
At-risk phenotype of neurofibromatose-1 patients: a multicentre case-control study. Orphanet J Rare Dis (2011) 0.79
Clinical characteristics predicting internal neurofibromas in 357 children with neurofibromatosis-1: results from a cross-selectional study. Orphanet J Rare Dis (2012) 0.75
Prospect and progress of oncolytic viruses for treating peripheral nerve sheath tumors. Expert Opin Orphan Drugs (2015) 0.75
Validity and interexaminer reliability of a new method to quantify skin neurofibromas of neurofibromatosis 1 using paper frames. Orphanet J Rare Dis (2014) 0.75
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet (2010) 13.70
Paresis acquired in the intensive care unit: a prospective multicenter study. JAMA (2002) 7.04
Maternal treatment with opioid analgesics and risk for birth defects. Am J Obstet Gynecol (2011) 4.14
Use of selective serotonin-reuptake inhibitors in pregnancy and the risk of birth defects. N Engl J Med (2007) 3.79
Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am J Hum Genet (2006) 3.29
Intermittent subglottic secretion drainage and ventilator-associated pneumonia: a multicenter trial. Am J Respir Crit Care Med (2010) 3.25
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
Massively parallel sequencing: the next big thing in genetic medicine. Am J Hum Genet (2009) 3.01
Respiratory weakness is associated with limb weakness and delayed weaning in critical illness. Crit Care Med (2007) 2.96
Clinical and genetic aspects of neurofibromatosis 1. Genet Med (2010) 2.77
Does ICU-acquired paresis lengthen weaning from mechanical ventilation? Intensive Care Med (2004) 2.35
Toxic epidermal necrolysis: effector cells are drug-specific cytotoxic T cells. J Allergy Clin Immunol (2004) 2.33
Presence and severity of intensive care unit-acquired paresis at time of awakening are associated with increased intensive care unit and hospital mortality. Crit Care Med (2009) 2.31
Genetics professionals' perspectives on reporting incidental findings from clinical genome-wide sequencing. Am J Med Genet A (2013) 2.30
Prevalence and factors associated with hidradenitis suppurativa: results from two case-control studies. J Am Acad Dermatol (2008) 2.29
NF-1Score: a prediction score for internal neurofibromas in neurofibromatosis-1. J Invest Dermatol (2010) 2.25
Prevalence of neurofibromatosis 1 in German children at elementary school enrollment. Arch Dermatol (2005) 2.23
Facial aesthetic unit remodeling procedure for neurofibromatosis type 1 hemifacial hypertrophy: report on 33 consecutive adult patients. Plast Reconstr Surg (2010) 2.09
Perceptions of genetic discrimination among people at risk for Huntington's disease: a cross sectional survey. BMJ (2009) 2.02
"I want to know what's in Pandora's Box": comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing. Am J Med Genet A (2012) 2.00
Prognostic factors of CNS tumours in Neurofibromatosis 1 (NF1): a retrospective study of 104 patients. Brain (2003) 1.85
Prehospital standardization of medical airway management: incidence and risk factors of difficult airway. Acad Emerg Med (2006) 1.76
Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data. BMC Bioinformatics (2007) 1.75
Adverse cutaneous reactions to imatinib (STI571) in Philadelphia chromosome-positive leukemias: a prospective study of 54 patients. J Am Acad Dermatol (2003) 1.74
Repair of the lower and middle parts of the face by composite tissue allotransplantation in a patient with massive plexiform neurofibroma: a 1-year follow-up study. Lancet (2008) 1.73
Incidence of new-onset and flare of preexisting psoriasis during rituximab therapy for rheumatoid arthritis: data from the French AIR registry. J Rheumatol (2012) 1.69
Clinical characteristics of a series of 302 French patients with hidradenitis suppurativa, with an analysis of factors associated with disease severity. J Am Acad Dermatol (2009) 1.68
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet (2012) 1.60
Identification of three hidradenitis suppurativa phenotypes: latent class analysis of a cross-sectional study. J Invest Dermatol (2012) 1.59
Shortened telomeres in circulating leukocytes of patients with chronic obstructive pulmonary disease. Am J Respir Crit Care Med (2009) 1.57
The sensitivity of massively parallel sequencing for detecting candidate infectious agents associated with human tissue. PLoS One (2011) 1.53
Medications as risk factors of Stevens-Johnson syndrome and toxic epidermal necrolysis in children: a pooled analysis. Pediatrics (2009) 1.53
Paternalism and the ACMG recommendations on genomic incidental findings: patients seen but not heard. Genet Med (2013) 1.48
Value for money? Array genomic hybridization for diagnostic testing for genetic causes of intellectual disability. Am J Hum Genet (2010) 1.47
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Hum Mutat (2010) 1.47
Acute respiratory failure in patients with toxic epidermal necrolysis: clinical features and factors associated with mechanical ventilation. Crit Care Med (2014) 1.46
Comprehensive geriatric assessment in the decision-making process in elderly patients with cancer: ELCAPA study. J Clin Oncol (2011) 1.45
Risk factors for Gram-negative bacterial infections in febrile neutropenia. Haematologica (2005) 1.44
Back and face involvement in hidradenitis suppurativa. Dermatology (2010) 1.41
Neurofibromatosis 1-associated neuropathies: a reappraisal. Brain (2004) 1.40
Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up. PLoS One (2009) 1.36
Decreased bone mineral density in patients with neurofibromatosis 1. Osteoporos Int (2005) 1.33
Toxic epidermal necrolysis, DRESS, AGEP: do overlap cases exist? Orphanet J Rare Dis (2012) 1.32
Sedation algorithm in critically ill patients without acute brain injury. Crit Care Med (2005) 1.30
Patterns of antidepressant medication use among pregnant women in a United States population. J Clin Pharmacol (2010) 1.28
Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children. J Med Genet (2007) 1.28
Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population. Hum Mutat (2008) 1.26
Medications in the first trimester of pregnancy: most common exposures and critical gaps in understanding fetal risk. Pharmacoepidemiol Drug Saf (2013) 1.25
Typology of the primary outcome construction in dermatology: a systematic review of published randomized controlled trials. J Invest Dermatol (2012) 1.23
Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1. Hum Mol Genet (2009) 1.21
Molecular profiling of malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1, based on large-scale real-time RT-PCR. Mol Cancer (2004) 1.19
NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. Hum Mutat (2013) 1.17
Growth dynamics of plexiform neurofibromas: a retrospective cohort study of 201 patients with neurofibromatosis 1. Orphanet J Rare Dis (2012) 1.17
Role of noncoding RNA ANRIL in genesis of plexiform neurofibromas in neurofibromatosis type 1. J Natl Cancer Inst (2011) 1.16
Selective serotonin-reuptake inhibitors and persistent pulmonary hypertension of the newborn. N Engl J Med (2006) 1.16
Mortality associated with neurofibromatosis 1: a cohort study of 1895 patients in 1980-2006 in France. Orphanet J Rare Dis (2011) 1.16
Prognostic value of EGF receptor and tumor cell proliferation in bladder cancer: therapeutic implications. Urol Oncol (2004) 1.15
Neurofibromatosis type 1: from genotype to phenotype. J Med Genet (2012) 1.13
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. Orphanet J Rare Dis (2014) 1.12
Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1. Neuro Oncol (2008) 1.12
French people and skin diseases: results of a survey using a representative sample. Arch Dermatol (2003) 1.11
Mortality of patients with heatstroke admitted to intensive care units during the 2003 heat wave in France: a national multiple-center risk-factor study. Crit Care Med (2006) 1.07
Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14. J Med Genet (2007) 1.06
Intravitreal ranibizumab for choroidal neovascularization complicating pathologic myopia. Retina (2010) 1.05
Genetic diagnosis through whole-exome sequencing. N Engl J Med (2014) 1.05
Performance of the SCORTEN during the first five days of hospitalization to predict the prognosis of epidermal necrolysis. J Invest Dermatol (2006) 1.04
Beyond the patient: the broader impact of genetic discrimination among individuals at risk of Huntington disease. Am J Med Genet B Neuropsychiatr Genet (2012) 1.03
Use of Affymetrix mapping arrays in the diagnosis of gene copy number variation. Curr Protoc Hum Genet (2008) 1.03
Identification of genes potentially involved in the increased risk of malignancy in NF1-microdeleted patients. Mol Med (2010) 1.03
Genotypic influences on severity of exudative age-related macular degeneration. Invest Ophthalmol Vis Sci (2009) 1.03
Reliability of the histopathologic diagnosis of malignant melanoma in childhood. Arch Dermatol (2002) 1.02
Hormonal status in protracted critical illness and in-hospital mortality. Crit Care (2011) 1.01
Motor cortex stimulation for the treatment of refractory peripheral neuropathic pain. Brain (2009) 1.00
Impact of neurofibromatosis 1 on Quality of Life: a cross-sectional study of 176 American cases. Am J Med Genet A (2006) 1.00
Epidemiology and risk factors for gram-positive coccal infections in neutropenia: toward a more targeted antibiotic strategy. Clin Infect Dis (2003) 1.00
Pemphigus in elderly adults: clinical presentation, treatment, and prognosis. J Am Geriatr Soc (2012) 1.00
Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options. Am J Med Genet A (2009) 1.00
Detection and characterization of NF1 microdeletions by custom high resolution array CGH. J Mol Diagn (2009) 0.99
Genital tract and plasma human immunodeficiency virus viral load throughout the menstrual cycle in women who are infected with ovulatory human immunodeficiency virus. Am J Obstet Gynecol (2003) 0.99
A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7. Eur J Med Genet (2009) 0.99
Impact of BRCA mutations on female fertility and offspring sex ratio. Am J Hum Biol (2010) 0.99
Chemotherapy for the treatment of malignant peripheral nerve sheath tumors in neurofibromatosis 1: a 10-year institutional review. Orphanet J Rare Dis (2013) 0.98
Failure to achieve glycemic control despite intensive insulin therapy in a medical ICU: incidence and influence on ICU mortality. Intensive Care Med (2007) 0.98
The kinetics of the visible growth of a primary melanoma reflects the tumor aggressiveness and is an independent prognostic marker: a prospective study. Int J Cancer (2002) 0.96
Maternal use of bupropion and risk for congenital heart defects. Am J Obstet Gynecol (2010) 0.96
Impact of invasive fungal disease on the chemotherapy schedule and event-free survival in acute leukemia patients who survived fungal disease: a case-control study. Haematologica (2010) 0.95
Clinical risk factors for mortality in patients with neurofibromatosis 1: a cohort study of 378 patients. Arch Dermatol (2003) 0.95
Parental perceived value of a diagnosis for intellectual disability (ID): a qualitative comparison of families with and without a diagnosis for their child's ID. Am J Med Genet A (2009) 0.95
Prospective study of methylenetetrahydrofolate reductase (MTHFR) variant C677T and risk of all-cause and cardiovascular disease mortality among 6000 US adults. Am J Clin Nutr (2012) 0.94
Molecular profiles of neurofibromatosis type 1-associated plexiform neurofibromas: identification of a gene expression signature of poor prognosis. Clin Cancer Res (2004) 0.94
Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization. BMC Genomics (2009) 0.94