Published in Arch Dis Child Fetal Neonatal Ed on June 28, 2010
An official American Thoracic Society clinical practice guideline: classification, evaluation, and management of childhood interstitial lung disease in infancy. Am J Respir Crit Care Med (2013) 1.84
Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1. Chest (2013) 1.83
Surfactant dysfunction. Paediatr Respir Rev (2011) 1.16
Diseases of pulmonary surfactant homeostasis. Annu Rev Pathol (2015) 1.01
Benign Hereditary Chorea: An Update. Tremor Other Hyperkinet Mov (N Y) (2015) 1.00
A mutation in TTF1/NKX2.1 is associated with familial neuroendocrine cell hyperplasia of infancy. Chest (2013) 1.00
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum. J Med Genet (2014) 0.94
Surfactant lipidomics in healthy children and childhood interstitial lung disease. PLoS One (2015) 0.78
Surfactant proteins in pediatric interstitial lung disease. Pediatr Res (2015) 0.76
Altered surfactant homeostasis and recurrent respiratory failure secondary to TTF-1 nuclear targeting defect. Respir Res (2011) 0.76
Interstitial lung disease of infancy caused by a new NKX2-1 mutation. Clin Case Rep (2017) 0.75
A Video Report of Brain-Lung-Thyroid Syndrome in a Japanese Female With a Novel Frameshift Mutation of the NKX2-1 Gene. Child Neurol Open (2016) 0.75
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. N Engl J Med (2011) 8.73
Lipid extraction by methyl-tert-butyl ether for high-throughput lipidomics. J Lipid Res (2008) 3.96
Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups. PLoS Genet (2010) 3.21
Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. Lancet (2004) 2.98
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Am J Respir Crit Care Med (2006) 2.92
Cleavage of CXCR1 on neutrophils disables bacterial killing in cystic fibrosis lung disease. Nat Med (2007) 2.63
Leukocyte ABCA1 controls susceptibility to atherosclerosis and macrophage recruitment into tissues. Proc Natl Acad Sci U S A (2002) 2.55
Loss of detoxification in inflammatory bowel disease: dysregulation of pregnane X receptor target genes. Gastroenterology (2004) 2.43
Expression of therapeutic proteins after delivery of chemically modified mRNA in mice. Nat Biotechnol (2011) 2.43
Childhood obesity. J Clin Endocrinol Metab (2004) 2.29
High throughput quantification of cholesterol and cholesteryl ester by electrospray ionization tandem mass spectrometry (ESI-MS/MS). Biochim Biophys Acta (2006) 2.26
Retracted CXCR2 mediates NADPH oxidase-independent neutrophil extracellular trap formation in cystic fibrosis airway inflammation. Nat Med (2010) 2.17
Differential gene expression of Eph receptors and ephrins in benign human tissues and cancers. Clin Chem (2004) 2.17
High-throughput quantification of phosphatidylcholine and sphingomyelin by electrospray ionization tandem mass spectrometry coupled with isotope correction algorithm. Biochim Biophys Acta (2004) 2.14
Quantitative and functional impairment of pulmonary CD4+CD25hi regulatory T cells in pediatric asthma. J Allergy Clin Immunol (2007) 2.10
Skeletal scintigraphy indicates disease severity of cardiac involvement in patients with senile systemic amyloidosis. Int J Cardiol (2011) 2.10
Antihistamine-resistant angioedema in women with negative family history: estrogens and F12 gene mutations. Am J Med (2013) 1.97
Role of the novel Th17 cytokine IL-17F in inflammatory bowel disease (IBD): upregulated colonic IL-17F expression in active Crohn's disease and analysis of the IL17F p.His161Arg polymorphism in IBD. Inflamm Bowel Dis (2008) 1.96
Novel genetic risk markers for ulcerative colitis in the IL2/IL21 region are in epistasis with IL23R and suggest a common genetic background for ulcerative colitis and celiac disease. Am J Gastroenterol (2009) 1.96
Automatic model-based segmentation of the heart in CT images. IEEE Trans Med Imaging (2008) 1.90
Lipid profiling of FPLC-separated lipoprotein fractions by electrospray ionization tandem mass spectrometry. J Lipid Res (2008) 1.84
Shorthand notation for lipid structures derived from mass spectrometry. J Lipid Res (2013) 1.80
Epistasis between Toll-like receptor-9 polymorphisms and variants in NOD2 and IL23R modulates susceptibility to Crohn's disease. Am J Gastroenterol (2009) 1.80
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. PLoS Genet (2012) 1.79
Genetic determinants of circulating sphingolipid concentrations in European populations. PLoS Genet (2009) 1.77
Mice with targeted disruption of the fatty acid transport protein 4 (Fatp 4, Slc27a4) gene show features of lethal restrictive dermopathy. J Cell Biol (2003) 1.73
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. Am J Hum Genet (2011) 1.70
Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet (2002) 1.69
Plasma ceramide and lysophosphatidylcholine inversely correlate with mortality in sepsis patients. J Lipid Res (2003) 1.67
Differences in taste sensitivity between obese and non-obese children and adolescents. Arch Dis Child (2012) 1.65
Linking genetic susceptibility to Crohn's disease with Th17 cell function: IL-22 serum levels are increased in Crohn's disease and correlate with disease activity and IL23R genotype status. Inflamm Bowel Dis (2008) 1.64
Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and "apparent" thyroid dysgenesis. J Clin Endocrinol Metab (2013) 1.61
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. Neurology (2013) 1.61
Real-time reverse transcription-PCR expression profiling of the complete human ATP-binding cassette transporter superfamily in various tissues. Clin Chem (2003) 1.57
Systemic chemerin is related to inflammation rather than obesity in type 2 diabetes. Clin Endocrinol (Oxf) (2009) 1.57
Infiltrated neutrophils acquire novel chemokine receptor expression and chemokine responsiveness in chronic inflammatory lung diseases. J Immunol (2008) 1.56
Parenteral fat emulsions based on olive and soybean oils: a randomized clinical trial in preterm infants. J Pediatr Gastroenterol Nutr (2003) 1.56
Pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH)--a new autoinflammatory syndrome distinct from PAPA syndrome. J Am Acad Dermatol (2011) 1.55
Treating patients not numbers: the benefit and burden of lowering TSH newborn screening cut-offs. Arch Dis Child (2010) 1.53
rs1004819 is the main disease-associated IL23R variant in German Crohn's disease patients: combined analysis of IL23R, CARD15, and OCTN1/2 variants. PLoS One (2007) 1.48
Metformin and placebo therapy both improve weight management and fasting insulin in obese insulin-resistant adolescents: a prospective, placebo-controlled, randomized study. Eur J Endocrinol (2010) 1.48
Screening for osteoporosis in patients with inflammatory bowel disease by using urinary N-telopeptides. Eur J Gastroenterol Hepatol (2002) 1.48
A role for beta-melanocyte-stimulating hormone in human body-weight regulation. Cell Metab (2006) 1.46
Eosinophils are a major intravascular location for tissue factor storage and exposure. Blood (2006) 1.45
Altered skeletal muscle lipase expression and activity contribute to insulin resistance in humans. Diabetes (2011) 1.45
DYX1C1 is required for axonemal dynein assembly and ciliary motility. Nat Genet (2013) 1.44
Gender identity disorders in childhood and adolescence: currently debated concepts and treatment strategies. Dtsch Arztebl Int (2008) 1.43
The VP1 unique region of parvovirus B19 and its constituent phospholipase A2-like activity. J Virol (2002) 1.42
Choline-releasing glycerophosphodiesterase EDI3 drives tumor cell migration and metastasis. Proc Natl Acad Sci U S A (2012) 1.41
Knowledge Discovery and interactive Data Mining in Bioinformatics--State-of-the-Art, future challenges and research directions. BMC Bioinformatics (2014) 1.41
Light, temperature, and desiccation effects on photosynthetic activity, and drought-induced ultrastructural changes in the green alga Klebsormidium dissectum (Streptophyta) from a high alpine soil crust. Microb Ecol (2011) 1.40
An official American Thoracic Society research statement: noninfectious lung injury after hematopoietic stem cell transplantation: idiopathic pneumonia syndrome. Am J Respir Crit Care Med (2011) 1.40
Effects of duration and amount of lung stretch at biophysical, biochemical, histological, and transcriptional levels in an in vivo rabbit model of mild lung injury. Am J Perinatol (2007) 1.39
Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease. Am J Med Genet A (2004) 1.39
Pulmonary alveolar proteinosis: new insights from a single-center cohort of 70 patients. Respir Med (2011) 1.38
Pulmonary T(H)2 response in Pseudomonas aeruginosa-infected patients with cystic fibrosis. J Allergy Clin Immunol (2005) 1.37
Plasmalogens the neglected regulatory and scavenging lipid species. Chem Phys Lipids (2011) 1.37
Ultrastructural characterization of cystic fibrosis sputum using atomic force and scanning electron microscopy. J Cyst Fibros (2011) 1.36
Induction of fatty acid synthesis is a key requirement for phagocytic differentiation of human monocytes. Proc Natl Acad Sci U S A (2010) 1.35
Plasmolysis effects and osmotic potential of two phylogenetically distinct alpine strains of Klebsormidium (Streptophyta). Protoplasma (2011) 1.34
Fluorescent chlorophyll catabolites in bananas light up blue halos of cell death. Proc Natl Acad Sci U S A (2009) 1.32
Aberrant intestinal expression and allelic variants of mucin genes associated with inflammatory bowel disease. J Mol Med (Berl) (2006) 1.32
12R-lipoxygenase deficiency disrupts epidermal barrier function. J Cell Biol (2007) 1.32
Shotgun lipidomics by tandem mass spectrometry under data-dependent acquisition control. Methods Enzymol (2007) 1.32
Influence of gender, obesity, and muscle lipase activity on intramyocellular lipids in sedentary individuals. J Clin Endocrinol Metab (2009) 1.32
Immunohistochemistry in the classification of systemic forms of amyloidosis: a systematic investigation of 117 patients. Blood (2011) 1.30
Tumor-specific Hsp70 plasma membrane localization is enabled by the glycosphingolipid Gb3. PLoS One (2008) 1.30
Alteration of the pulmonary surfactant system in full-term infants with hereditary ABCA3 deficiency. Am J Respir Crit Care Med (2006) 1.30
Long-range DNA looping and gene expression analyses identify DEXI as an autoimmune disease candidate gene. Hum Mol Genet (2011) 1.29
Some ABCA3 mutations elevate ER stress and initiate apoptosis of lung epithelial cells. Respir Res (2011) 1.28
Incidence and classification of pediatric diffuse parenchymal lung diseases in Germany. Orphanet J Rare Dis (2009) 1.27
Approaching clinical proteomics: current state and future fields of application in fluid proteomics. Clin Chem Lab Med (2009) 1.27
European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism. J Clin Endocrinol Metab (2014) 1.26
Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism. Eur J Endocrinol (2007) 1.26
The role of Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms and CARD15/NOD2 mutations in the susceptibility and phenotype of Crohn's disease. Inflamm Bowel Dis (2005) 1.26
Effect of treatment with dornase alpha on airway inflammation in patients with cystic fibrosis. Am J Respir Crit Care Med (2003) 1.24
Innate immunity and adipocyte function: ligand-specific activation of multiple Toll-like receptors modulates cytokine, adipokine, and chemokine secretion in adipocytes. Obesity (Silver Spring) (2009) 1.24
Efficacy and safety of anakinra therapy in pediatric and adult patients with the autoinflammatory Muckle-Wells syndrome. Arthritis Rheum (2011) 1.22
High-throughput analysis of sphingosine 1-phosphate, sphinganine 1-phosphate, and lysophosphatidic acid in plasma samples by liquid chromatography-tandem mass spectrometry. Clin Chem (2009) 1.22
Biochemical and structural characterization of apolipoprotein A-I binding protein, a novel phosphoprotein with a potential role in sperm capacitation. Endocrinology (2008) 1.20
Disease activity, ANCA, and IL23R genotype status determine early response to infliximab in patients with ulcerative colitis. Am J Gastroenterol (2010) 1.20