Published in N Engl J Med on June 14, 2001
Systemic hypertension in two patients with ASL deficiency: a result of nitric oxide deficiency? Mol Genet Metab (2009) 1.96
Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study. Circ Cardiovasc Genet (2009) 1.71
Requirement of argininosuccinate lyase for systemic nitric oxide production. Nat Med (2011) 1.54
Plasma asymmetric dimethylarginine levels are increased in neonates with bronchopulmonary dysplasia-associated pulmonary hypertension. J Pediatr (2014) 1.53
Incidental medical information in whole-exome sequencing. Pediatrics (2012) 1.48
Neonatal pulmonary hypertension. Pediatr Crit Care Med (2010) 1.40
Advances in the diagnosis and management of persistent pulmonary hypertension of the newborn. Pediatr Clin North Am (2009) 1.31
Hypoxic repression of endothelial nitric-oxide synthase transcription is coupled with eviction of promoter histones. J Biol Chem (2009) 1.20
Arginase and pulmonary diseases. Naunyn Schmiedebergs Arch Pharmacol (2008) 1.16
Quantitative RT-PCR comparison of the urea and nitric oxide cycle gene transcripts in adult human tissues. Mol Genet Metab (2009) 1.07
Update on PPHN: mechanisms and treatment. Semin Perinatol (2014) 1.06
L-citrulline attenuates arrested alveolar growth and pulmonary hypertension in oxygen-induced lung injury in newborn rats. Pediatr Res (2010) 0.95
Genetic variation in the mitochondrial enzyme carbamyl-phosphate synthetase I predisposes children to increased pulmonary artery pressure following surgical repair of congenital heart defects: a validated genetic association study. Mitochondrion (2006) 0.92
Down syndrome patients with pulmonary hypertension have elevated plasma levels of asymmetric dimethylarginine. Eur J Pediatr (2010) 0.91
Persistent pulmonary hypertension of the newborn. Matern Health Neonatol Perinatol (2015) 0.90
Human carbamoyl-phosphate synthetase: insight into N-acetylglutamate interaction and the functional effects of a common single nucleotide polymorphism. J Inherit Metab Dis (2008) 0.88
Diagnosis and treatment of pulmonary hypertension in infancy. Early Hum Dev (2013) 0.88
Variations in CRHR1 are associated with persistent pulmonary hypertension of the newborn. Pediatr Res (2011) 0.87
Personalized genomic medicine: lessons from the exome. Mol Genet Metab (2011) 0.87
Persistent pulmonary hypertension of the newborn. J Formos Med Assoc (2013) 0.86
Arginase I gene single-nucleotide polymorphism is associated with decreased risk of pulmonary hypertension in bronchopulmonary dysplasia. Acta Paediatr (2014) 0.84
Alterations in lung arginine metabolism in lambs with pulmonary hypertension associated with increased pulmonary blood flow. Vascul Pharmacol (2009) 0.84
The T1405N carbamoyl phosphate synthetase polymorphism does not affect plasma arginine concentrations in preterm infants. PLoS One (2010) 0.84
Inhaled nitric oxide therapy increases blood nitrite, nitrate, and s-nitrosohemoglobin concentrations in infants with pulmonary hypertension. J Pediatr (2011) 0.83
Polar bears exhibit genome-wide signatures of bioenergetic adaptation to life in the arctic environment. Genome Biol Evol (2014) 0.82
Understanding the role of NOS-3 in ventilator-induced lung injury: don't take NO for an answer. Am J Physiol Lung Cell Mol Physiol (2010) 0.80
Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis. Am J Hum Genet (2016) 0.80
Therapeutic approaches using nitric oxide in infants and children. Free Radic Biol Med (2011) 0.79
Properties of local interactions and their potential value in complementing genome-wide association studies. PLoS One (2013) 0.78
Pharmacotherapy for pulmonary hypertension. Pediatr Clin North Am (2012) 0.78
Plasma Proteomic Study in Pulmonary Arterial Hypertension Associated with Congenital Heart Diseases. Sci Rep (2016) 0.78
Overexpression of cationic amino acid transporter-1 increases nitric oxide production in hypoxic human pulmonary microvascular endothelial cells. Clin Exp Pharmacol Physiol (2011) 0.77
L-citrulline provides a novel strategy for treating chronic pulmonary hypertension in newborn infants. Acta Paediatr (2014) 0.77
EDN1 Gene Variant is Associated with Neonatal Persistent Pulmonary Hypertension. Sci Rep (2016) 0.77
Delineation of 2q32q35 deletion phenotypes: two apparent "proximal" and "distal" syndromes. Case Rep Genet (2013) 0.76
Increased Occurrence of Valproic Acid-Induced Hyperammonemia in Carriers of T1405N Polymorphism in Carbamoyl Phosphate Synthetase 1 Gene. ISRN Neurol (2013) 0.75
Molecular physiopathogenetic mechanisms and development of new potential therapeutic strategies in persistent pulmonary hypertension of the newborn. Ital J Pediatr (2015) 0.75
Persistent pulmonary hypertension of the newborn. N Engl J Med (2002) 0.75
Association between the p.Thr1406Asn polymorphism of the carbamoyl-phosphate synthetase 1 gene and necrotizing enterocolitis: A prospective multicenter study. Sci Rep (2016) 0.75
A single nucleotide polymorphism in the dimethylarginine dimethylaminohydrolase gene is associated with lower risk of pulmonary hypertension in bronchopulmonary dysplasia. Acta Paediatr (2016) 0.75
Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science (1993) 33.32
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature (1995) 13.80
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science (2009) 13.45
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nat Genet (2013) 9.46
Toxicity and deaths from 3,4-methylenedioxymethamphetamine ("ecstasy") Lancet (1992) 7.01
Role of circumferential margin involvement in the local recurrence of rectal cancer. Lancet (1994) 5.86
The effects of ibuprofen on the physiology and survival of patients with sepsis. The Ibuprofen in Sepsis Study Group. N Engl J Med (1997) 4.98
Complete genomic screen in late-onset familial Alzheimer disease. Evidence for a new locus on chromosome 12. JAMA (1997) 4.00
A highly polymorphic locus very tightly linked to the Huntington's disease gene. Nature (1988) 3.90
The genetic defect causing familial Alzheimer's disease maps on chromosome 21. Science (1987) 3.59
Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity. N Engl J Med (1991) 3.45
Localization of the Huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere. Cell (1987) 3.11
Cost-effectiveness of a 12-dose regimen for treating latent tuberculous infection in the United States. Int J Tuberc Lung Dis (2013) 3.08
An autosomal genomic screen for autism. Collaborative linkage study of autism. Am J Med Genet (1999) 3.07
ApoE-4 and age at onset of Alzheimer's disease: the NIMH genetics initiative. Neurology (1997) 3.04
A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group. Nat Genet (1996) 2.98
Gradual withdrawal of diazepam after long-term therapy. Lancet (1983) 2.95
Inhaled nitric oxide in premature neonates with severe hypoxaemic respiratory failure: a randomised controlled trial. Lancet (1999) 2.95
Exclusion of atrial thrombus by transesophageal echocardiography does not preclude embolism after cardioversion of atrial fibrillation. A multicenter study. Circulation (1994) 2.80
Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder. Nature (1990) 2.80
Complete genomic screen in Parkinson disease: evidence for multiple genes. JAMA (2001) 2.79
A gene responsible for the pigment dispersion syndrome maps to chromosome 7q35-q36. Arch Ophthalmol (1997) 2.64
A DNA segment encoding two genes very tightly linked to Huntington's disease. Science (1987) 2.63
Effects of ibuprofen on the physiology and survival of hypothermic sepsis. Ibuprofen in Sepsis Study Group. Crit Care Med (1999) 2.60
Clinical characteristics of African Americans vs Caucasian Americans with multiple sclerosis. Neurology (2004) 2.50
Paraoxonase cluster polymorphisms are associated with sporadic ALS. Neurology (2006) 2.38
Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease. JAMA (2001) 2.36
Head injury and the risk of AD in the MIRAGE study. Neurology (2000) 2.34
Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature (1987) 2.32
Clustering of multiallele DNA markers near the Huntington's disease gene. J Clin Invest (1989) 2.25
Health effects of organophosphate sheep dips. BMJ (1992) 2.22
Hypoproteinemia predicts acute respiratory distress syndrome development, weight gain, and death in patients with sepsis. Ibuprofen in Sepsis Study Group. Crit Care Med (2000) 2.10
Prognostic implications of left atrial spontaneous echo contrast in nonvalvular atrial fibrillation. J Am Coll Cardiol (1994) 2.10
Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. JAMA (2000) 2.08
Cytochrome P450 1B1 (CYP1B1) pharmacogenetics: association of polymorphisms with functional differences in estrogen hydroxylation activity. Cancer Res (2000) 2.08
Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature. Hum Genet (1986) 2.07
HLA-DR2 dose effect on susceptibility to multiple sclerosis and influence on disease course. Am J Hum Genet (2003) 2.02
An alpha-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease. Nat Genet (1999) 2.01
Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene. Science (1990) 1.99
In vivo antioxidant treatment suppresses nuclear factor-kappa B activation and neutrophilic lung inflammation. J Immunol (1996) 1.96
Genome-wide association study of Alzheimer's disease. Transl Psychiatry (2012) 1.88
The decreasing incidence and severity of retinopathy of prematurity. J AAPOS (1999) 1.87
Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. Nat Genet (1992) 1.84
Genome-wide scan for adult onset primary open angle glaucoma. Hum Mol Genet (2000) 1.82
Systematic review of the effectiveness and cost-effectiveness, and economic evaluation, of myocardial perfusion scintigraphy for the diagnosis and management of angina and myocardial infarction. Health Technol Assess (2004) 1.82
Recombination events suggest potential sites for the Huntington's disease gene. Neuron (1989) 1.82
Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell (1992) 1.80
Genetic linkage map of human chromosome 21. Genomics (1988) 1.79
Identification of novel genes in late-onset Alzheimer's disease. Exp Gerontol (2000) 1.74
Fetal surgery for myelomeningocele and the incidence of shunt-dependent hydrocephalus. JAMA (1999) 1.73
Huntington disease: no evidence for locus heterogeneity. Genomics (1989) 1.70
Randomized, multicenter trial of inhaled nitric oxide and high-frequency oscillatory ventilation in severe, persistent pulmonary hypertension of the newborn. J Pediatr (1997) 1.68
Left atrial spontaneous echo contrast: a clinical and echocardiographic analysis. J Am Coll Cardiol (1991) 1.66
A survey of diagnostic practices and the use of epoprostenol in patients with primary pulmonary hypertension. Chest (1998) 1.65
Are differences in stage at presentation a credible explanation for reported differences in the survival of patients with colorectal cancer in Europe? Br J Cancer (2001) 1.58
The genetic defect in familial Alzheimer's disease is not tightly linked to the amyloid beta-protein gene. Nature (1987) 1.57
Genetic linkage studies in Alzheimer's disease families. Exp Neurol (1988) 1.57
Multifactor dimensionality reduction reveals gene-gene interactions associated with multiple sclerosis susceptibility in African Americans. Genes Immun (2006) 1.56
Linkage and association analysis at the serotonin transporter (SLC6A4) locus in a rigid-compulsive subset of autism. Am J Med Genet B Neuropsychiatr Genet (2004) 1.56
A second locus for Rieger syndrome maps to chromosome 13q14. Am J Hum Genet (1996) 1.55
Oxygen free radicals and congestive heart failure. Br Heart J (1991) 1.55
Mapping of D4S98/S114/S113 confines the Huntington's defect to a reduced physical region at the telomere of chromosome 4. Nucleic Acids Res (1988) 1.51
Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. Neurology (2001) 1.51
Further evidence of increased polymorphonuclear cell activity in patients with Raynaud's phenomenon. Br J Rheumatol (1992) 1.50
Genetic linkage of autosomal dominant juvenile glaucoma to 1q21-q31 in three affected pedigrees. Genomics (1994) 1.50
Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group. Neurology (1996) 1.50
Immunohistochemical detection of the anti-apoptosis protein, survivin, predicts survival after curative resection of stage II colorectal carcinomas. Ann Surg Oncol (2001) 1.48
Prognostic value of p53 overexpression and c-Ki-ras gene mutations in colorectal cancer. Gastroenterology (1993) 1.45
Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma. Am J Hum Genet (1998) 1.44
Genetic basis for clinical expression in multiple sclerosis. Brain (2002) 1.43
Localization of cyclooxygenase-2 in human sporadic colorectal adenomas. Am J Pathol (2000) 1.42
Radiotherapy and rectal cancer. J Pathol (2002) 1.40
Presenilin-1 polymorphism and Alzheimer's disease. Lancet (1996) 1.38
Assessment of amyloid beta-protein precursor gene mutations in a large set of familial and sporadic Alzheimer disease cases. Am J Hum Genet (1992) 1.37
A genetic linkage map of the long arm of human chromosome 22. Genomics (1989) 1.37
A genetic linkage map of human chromosome 21: analysis of recombination as a function of sex and age. Am J Hum Genet (1992) 1.36
Analysis of the RELN gene as a genetic risk factor for autism. Mol Psychiatry (2005) 1.36
Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis. Nat Genet (1993) 1.36
Association of the apolipoprotein E gene with age-related macular degeneration: possible effect modification by family history, age, and gender. Mol Vis (2000) 1.31
Simplified method for monitoring tricyclic antidepressant therapy using gas--liquid chromatography with nitrogen detection. J Chromatogr (1978) 1.30
Apolipoprotein E controls the risk and age at onset of Parkinson disease. Neurology (2004) 1.28
DNA linkage analysis of X chromosome-linked chronic granulomatous disease. Proc Natl Acad Sci U S A (1986) 1.27
Fine mapping of the chromosome 12 late-onset Alzheimer disease locus: potential genetic and phenotypic heterogeneity. Am J Hum Genet (2000) 1.26
A genomewide scan identifies novel early-onset primary open-angle glaucoma loci on 9q22 and 20p12. Am J Hum Genet (2004) 1.24
Report and abstracts of the Third International Workshop on Chromosome 9. Cambridge, United Kingdom, 9-11 April, 1994. Ann Hum Genet (1994) 1.23
Spinocerebellar ataxia in a large kindred: age at onset, reproduction, and genetic linkage studies. Neurology (1984) 1.22
Cyclooxygenase 2 is up-regulated and localized to macrophages in the intestine of Min mice. Br J Cancer (1999) 1.22
Sudden, unexpected cardiac or unexplained death in England: a national survey. QJM (2003) 1.21
Identification of VAV2 on 9q34 and its exclusion as the tuberous sclerosis gene TSC1. Ann Hum Genet (1995) 1.21
Genetic analysis of complex diseases. Science (1997) 1.21
What factors affect lymph node yield in surgery for rectal cancer? Colorectal Dis (2004) 1.21
Nomifensine overdose and plasma drug concentration. Lancet (1979) 1.20
Serial changes of cerebral glucose metabolism and caudate size in persons at risk for Huntington's disease. Arch Neurol (1992) 1.18
Neurofibromatosis 2: clinical and DNA linkage studies of a large kindred. N Engl J Med (1988) 1.18
Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families. Genomics (2001) 1.17
Evidence supporting WNT2 as an autism susceptibility gene. Am J Med Genet (2001) 1.16
Exhaled breath condensate isoprostanes are elevated in patients with acute lung injury or ARDS. Chest (1998) 1.16