Published in Eur J Pediatr on November 01, 2014
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am J Hum Genet (2011) 2.02
Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. Circ Cardiovasc Genet (2008) 1.93
A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. Am J Hum Genet (2001) 1.73
An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. Am J Med Genet A (2010) 1.35
Pseudoxanthoma elasticum: progress in diagnostics and research towards treatment : Summary of the 2010 PXE International Research Meeting. Am J Med Genet A (2011) 1.31
Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene. Br J Dermatol (2012) 1.27
Idiopathic infantile arterial calcification in siblings: radiologic diagnosis and successful treatment. J Pediatr (1978) 1.22
Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coin. Front Genet (2012) 1.21
Idiopathic infantile arterial calcification: two case reports, a review of the literature and a role for cardiac transplantation. Pediatr Transplant (2006) 1.18
Generalized arterial calcification of infancy: three case reports, including spontaneous regression with long-term survival. J Pediatr (1984) 1.10
Efficacy and safety of 2-year etidronate treatment in a child with generalized arterial calcification of infancy. Eur J Pediatr (2011) 1.06
Idiopathic infantile arterial calcification with survival to adult life. Pediatr Cardiol (1984) 1.01
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet (2010) 3.66
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat Genet (2009) 2.72
Epigenetic silencing of the myelopoiesis regulator microRNA-223 by the AML1/ETO oncoprotein. Cancer Cell (2007) 2.55
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet (2007) 1.82
Polycombs and microRNA-223 regulate human granulopoiesis by transcriptional control of target gene expression. Blood (2012) 1.78
Preemptive liver transplantation in a child with familial hypercholesterolemia. Pediatr Transplant (2010) 1.71
Obstructive sleep apnea syndrome affects liver histology and inflammatory cell activation in pediatric nonalcoholic fatty liver disease, regardless of obesity/insulin resistance. Am J Respir Crit Care Med (2014) 1.60
Mechanical assist device as a bridge to heart transplantation in children less than 10 kilograms. Ann Thorac Surg (2010) 1.57
Proteolytic activation cascade of the Netherton syndrome-defective protein, LEKTI, in the epidermis: implications for skin homeostasis. J Invest Dermatol (2011) 1.51
Fibrinogen storage disease caused by Aguadilla mutation presenting with hypobeta-lipoproteinemia and considerable liver disease. J Pediatr Gastroenterol Nutr (2009) 1.50
Double-blind comparison of hepatitis C histological recurrence Rate in HCV+ Liver transplant recipients given basiliximab + steroids or basiliximab + placebo, in addition to cyclosporine and azathioprine. Transplantation (2004) 1.49
Heterochromatic gene repression of the retinoic acid pathway in acute myeloid leukemia. Blood (2007) 1.48
Role of renospermatic basal reflow and age on semen quality improvement after sclerotization of varicocele. Urology (2010) 1.46
Noninvasive ventilation in children with spinal muscular atrophy types 1 and 2. Am J Phys Med Rehabil (2007) 1.44
Transannular patching is a valid alternative for tetralogy of Fallot and complete atrioventricular septal defect repair. J Thorac Cardiovasc Surg (2008) 1.44
Whole blood assessment of neutrophil gelatinase-associated lipocalin versus pediatricRIFLE for acute kidney injury diagnosis and prognosis after pediatric cardiac surgery: cross-sectional study*. Pediatr Crit Care Med (2012) 1.44
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. Hum Mutat (2009) 1.43
Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa. J Invest Dermatol (2004) 1.42
A Cross-Sectional Survey of Near-Infrared Spectroscopy Use in Pediatric Cardiac ICUs in the United Kingdom, Ireland, Italy, and Germany. Pediatr Crit Care Med (2016) 1.39
CD44-v6 expression in smooth muscle cells in the postnatal remodeling process of ductus arteriosus. Am J Cardiol (2006) 1.38
Retinoic acid targets DNA-methyltransferases and histone deacetylases during APL blast differentiation in vitro and in vivo. Oncogene (2005) 1.36
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Hum Mutat (2010) 1.32
Severe hepatotoxicity during combination antiretroviral treatment: incidence, liver histology, and outcome. J Acquir Immune Defic Syndr (2003) 1.28
Clinical outcome of 193 extracardiac Fontan patients: the first 15 years. J Am Coll Cardiol (2006) 1.27
Costello syndrome: clinical diagnosis in the first year of life. Eur J Pediatr (2007) 1.21
Pressure recording analytical method and bioreactance for stroke volume index monitoring during pediatric cardiac surgery. Paediatr Anaesth (2014) 1.19
Sequential valproic acid/all-trans retinoic acid treatment reprograms differentiation in refractory and high-risk acute myeloid leukemia. Cancer Res (2006) 1.18
Autoimmune thyroid diseases in children. J Thyroid Res (2010) 1.14
Unresectable multifocal omental and peritoneal inflammatory myofibroblastic tumor in a child: revisiting the role of adjuvant therapy. J Pediatr Surg (2011) 1.14
Production of profibrotic cytokines by invariant NKT cells characterizes cirrhosis progression in chronic viral hepatitis. J Immunol (2004) 1.12
Genotype-phenotype relationship in human ATP6i-dependent autosomal recessive osteopetrosis. Am J Pathol (2003) 1.09
MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy. Brain (2013) 1.07
Results of early reevaluation of growth hormone secretion in short children with apparent growth hormone deficiency. J Pediatr (2002) 1.07
Preoperative use of steroids in pediatric cardiac surgery: new directions for future research? Ann Thorac Surg (2013) 1.07
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions. Orphanet J Rare Dis (2013) 1.06
Exposure of normal and transformed cells to nevirapine, a reverse transcriptase inhibitor, reduces cell growth and promotes differentiation. Oncogene (2003) 1.05
Co-expression and modulation of neuronal and endothelial nitric oxide synthase in human endothelial cells. J Mol Cell Cardiol (2004) 1.05
Targeting of the N-terminal coiled coil oligomerization interface by a helix-2 peptide inhibits unmutated and imatinib-resistant BCR/ABL. Int J Cancer (2008) 1.02
Survival of patients with spinal muscular atrophy type 1. Pediatrics (2013) 1.02
Differential detection of PAS-positive inclusions formed by the Z, Siiyama, and Mmalton variants of alpha1-antitrypsin. Hepatology (2004) 1.01
Treatment of Wilson's disease with zinc from the time of diagnosis in pediatric patients: a single-hospital, 10-year follow-up study. J Lab Clin Med (2005) 1.00
Beta-catenin accumulates in intercalated disks of hypertrophic cardiomyopathic hearts. Cardiovasc Res (2003) 1.00
The expression of CD90/Thy-1 in hepatocellular carcinoma: an in vivo and in vitro study. PLoS One (2013) 0.97
High-dose fenoldopam reduces postoperative neutrophil gelatinase-associated lipocaline and cystatin C levels in pediatric cardiac surgery. Crit Care (2011) 0.97
Autoimmune thyroiditis associated with autoimmune hepatitis. Thyroid (2005) 0.95
Cystitis glandularis in children. BJU Int (2005) 0.94
Double-outlet right atrium: anatomic and clinical considerations. Ann Thorac Surg (2007) 0.94
Extracorporeal membrane oxygenation in pediatric recipients of hematopoietic stem cell transplantation: an updated analysis of the Extracorporeal Life Support Organization experience. Intensive Care Med (2014) 0.94
Cystic dysplasia of the rete testis: report of two cases and review of the literature. Pediatr Dev Pathol (2002) 0.93
Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance. J Pediatr (2004) 0.93
Impact of severe sepsis on serum and urinary biomarkers of acute kidney injury in critically ill children: an observational study. Blood Purif (2013) 0.93
Peliosis hepatis as an early histological finding in idiopathic portal hypertension: A case report. World J Gastroenterol (2006) 0.92
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene. BMC Med Genet (2014) 0.92
Usefulness of a program of hospital-supervised physical training in patients with cystic fibrosis. Pediatr Pulmonol (2004) 0.92
Clinical significance of CXC chemokine receptor-4 and c-Met in childhood rhabdomyosarcoma. Clin Cancer Res (2008) 0.92
The 420K LEKTI variant alters LEKTI proteolytic activation and results in protease deregulation: implications for atopic dermatitis. Hum Mol Genet (2012) 0.92
Nephroblastoma: multidrug-resistance P-glycoprotein expression in tumor cells and intratumoral capillary endothelial cells. Am J Clin Pathol (2002) 0.91
Fat-soluble vitamin deficiency in children with intestinal failure receiving home parenteral nutrition. J Pediatr Gastroenterol Nutr (2014) 0.91
Sensenbrenner syndrome: a new member of the hepatorenal fibrocystic family. Am J Med Genet A (2006) 0.90
Early and late failure of tissue-engineered pulmonary valve conduits used for right ventricular outflow tract reconstruction in patients with congenital heart disease. Eur J Cardiothorac Surg (2012) 0.90
Acute necrotizing encephalopathy: combined therapy and favorable outcome in a new case. Childs Nerv Syst (2006) 0.90
Intractable haematuria: long-term results after selective embolization of the internal iliac arteries. BJU Int (2010) 0.89
Mechanisms of interleukin-6 protection against ischemia-reperfusion injury in rat liver. Cytokine (2006) 0.89
Gene and functional up-regulation of the BCRP/ABCG2 transporter in hepatocellular carcinoma. BMC Gastroenterol (2012) 0.89
Albumin and fibrinogen synthesis and insulin effect in type 2 diabetic patients with normoalbuminuria. Diabetes Care (2006) 0.89
Ventricular assist device in univentricular heart physiology. Interact Cardiovasc Thorac Surg (2013) 0.88
Secretory phospholipase A₂ pathway during pediatric acute respiratory distress syndrome: a preliminary study. Pediatr Crit Care Med (2011) 0.88
A new ABCB11 mutation in two Italian children with familial intrahepatic cholestasis. J Gastroenterol (2006) 0.88
Aberrant left innominate artery from the left descending aorta in right aortic arch: echocardiographic diagnosis. J Am Soc Echocardiogr (2009) 0.87
Severe liver disease in early childhood due to fibrinogen storage and de novo gamma375Arg-->Trp gene mutation. J Pediatr (2006) 0.87
Dynamic and reversibility of heterochromatic gene silencing in human disease. Cell Res (2005) 0.87
Pediatric RIFLE for acute kidney injury diagnosis and prognosis for children undergoing cardiac surgery: a single-center prospective observational study. Pediatr Cardiol (2013) 0.87
Pleuropulmonary blastoma, a distinctive neoplasm of childhood: report of three cases. Pediatr Radiol (2007) 0.87
Adrenoleukodystrophy. Endocr Dev (2010) 0.86
Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABHD5 mutation. J Hepatol (2008) 0.86
Pulmonary blastomas of childhood: histologic, immunohistochemical, ultrastructural aspects and therapeutic considerations. Ultrastruct Pathol (2005) 0.86
A novel closed-chest porcine model of chronic ischemic heart failure suitable for experimental research in cardiovascular disease. Biomed Res Int (2013) 0.86
Horseshoe lung associated with unique left pulmonary vein: an unreported association. Pediatr Cardiol (2010) 0.85
Frataxin deficiency leads to reduced expression and impaired translocation of NF-E2-related factor (Nrf2) in cultured motor neurons. Int J Mol Sci (2013) 0.84
Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy. Neuromuscul Disord (2007) 0.84
Melanoma in a 5-year-old child with a giant congenital melanocytic naevus. Acta Derm Venereol (2012) 0.84
Buschke-Ollendorff syndrome: sparing unnecessary investigations. Cutis (2014) 0.84
Pathology of the liver sinusoids. Histopathology (2014) 0.83
How does long-term parenteral nutrition impact the bone mineral status of children with intestinal failure? J Bone Miner Metab (2009) 0.83
Adoptive immunotherapy with antigen-specific T cells during extracorporeal membrane oxygenation (ECMO) for adenovirus-related respiratory failure in a child given haploidentical stem cell transplantation. Pediatr Blood Cancer (2013) 0.83
Ultrastructural characterization of genetic diffuse lung diseases in infants and children: a cohort study and review. Ultrastruct Pathol (2013) 0.83
The Gly972-->Arg IRS-1 variant is associated with type 1 diabetes in continental Italy. Diabetes (2003) 0.83
Menarche in type 1 diabetes is still delayed despite good metabolic control. Fertil Steril (2008) 0.83
Left ventricular assist device in Duchenne cardiomyopathy: can we change the natural history of cardiac disease? Int J Cardiol (2012) 0.82
FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion. Neurogenetics (2011) 0.82
Neurological complications during pulsatile ventricular assistance with the Berlin Heart EXCOR in children: incidence and risk factors. Artif Organs (2013) 0.82
Late diagnosis of double aortic arch: consequences on long-term follow-up. Pediatr Pulmonol (2013) 0.82
Preliminary evidences on mitochondrial injury and impaired oxidative metabolism in breast cancer. Mitochondrion (2012) 0.81
Expression of the lipogenic enzyme fatty acid synthase (FAS) as a predictor of poor outcome in nephroblastoma: an interinstitutional study. Med Pediatr Oncol (2003) 0.81
Power dissipation associated with surgical operations' hemodynamics: critical issues and application to the total cavopulmonary connection. J Biomech (2006) 0.81