Published in Pediatr Pulmonol on June 01, 2009
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Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implications. Arthritis Rheum (2006) 1.13
Differentiating PFAPA syndrome from monogenic periodic fevers. Pediatrics (2009) 1.12
Fibroblast phenotype in male carriers of FMR1 premutation alleles. Hum Mol Genet (2009) 1.11
Hirschsprung disease and congenital anomalies of the kidney and urinary tract (CAKUT): a novel syndromic association. Medicine (Baltimore) (2009) 1.09
Multiple endocrine neoplasia type 2 syndromes (MEN 2): results from the ItaMEN network analysis on the prevalence of different genotypes and phenotypes. Eur J Endocrinol (2010) 1.04
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Molecular mechanisms of RET-induced Hirschsprung pathogenesis. Ann Med (2006) 1.01
A common haplotype at the 5' end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression. Hum Mutat (2005) 0.98
Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers. Diagn Mol Pathol (2010) 0.98
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CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome. Gastroenterology (2011) 0.97
Genetic and clinical determinants influencing warfarin dosing in children with heart disease. Pediatr Cardiol (2012) 0.97
Incorporating prior biological information in linkage studies increases power and limits multiple testing. BMC Proc (2007) 0.97
Pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (PAPASH): a new autoinflammatory syndrome associated with a novel mutation of the PSTPIP1 gene. JAMA Dermatol (2013) 0.97
Viral delivery of glial cell line-derived neurotrophic factor improves behavior and protects striatal neurons in a mouse model of Huntington's disease. Proc Natl Acad Sci U S A (2006) 0.96
Association of the serotonin transporter gene with sudden infant death syndrome: a haplotype analysis. Am J Med Genet A (2003) 0.95
Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHS. Am J Respir Crit Care Med (2005) 0.95
MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever. Eur J Hum Genet (2005) 0.95
Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association. Hum Mutat (2009) 0.94
Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome. Hum Mol Genet (2005) 0.94
Adult-onset Alexander disease : report on a family. J Neurol (2007) 0.93
Clinical impact of MEFV mutations in children with periodic fever in a prevalent western European Caucasian population. Ann Rheum Dis (2012) 0.93
In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome. Respir Physiol Neurobiol (2005) 0.92
Cell-line specific chromatin acetylation at the Sox10-Pax3 enhancer site modulates the RET proto-oncogene expression. FEBS Lett (2002) 0.91
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Pathways systematically associated to Hirschsprung's disease. Orphanet J Rare Dis (2013) 0.90
A common variant located in the 3'UTR of the RET gene is associated with protection from Hirschsprung disease. Hum Mutat (2007) 0.90
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Intrastriatal CERE-120 (AAV-Neurturin) protects striatal and cortical neurons and delays motor deficits in a transgenic mouse model of Huntington's disease. Neurobiol Dis (2008) 0.89
Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2. Eur J Hum Genet (2004) 0.89
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Monozygotic twins discordant for ROHHAD phenotype. Pediatrics (2011) 0.88
Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene. Acta Paediatr (2008) 0.88
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Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease. PLoS One (2013) 0.86
The TLX2 homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cells. Biochem J (2006) 0.86
An in vitro approach to test the possible role of candidate factors in the transcriptional regulation of the RET proto-oncogene. Gene Expr (2005) 0.86
A population-based twin study on sleep duration and body composition. Obesity (Silver Spring) (2011) 0.86
Variable human phenotype associated with novel deletions of the PHOX2B gene. Pediatr Pulmonol (2011) 0.86
Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology. Pediatr Res (2005) 0.85
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PHOX2B-mediated regulation of ALK expression: in vitro identification of a functional relationship between two genes involved in neuroblastoma. PLoS One (2010) 0.85
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Brainstem signs with progressing atrophy of medulla oblongata and upper cervical spinal cord. Lancet Neurol (2007) 0.85
HOX11L1: a promoter study to evaluate possible expression defects in intestinal motility disorders. Int J Mol Med (2002) 0.85
Candidate genes in patients with autoinflammatory syndrome resembling tumor necrosis factor receptor-associated periodic syndrome without mutations in the TNFRSF1A gene. J Rheumatol (2011) 0.84
CDKL5 and ARX mutations in males with early-onset epilepsy. Pediatr Neurol (2013) 0.84
The involvement of the RET variant G691S in medullary thyroid carcinoma enlightened by a meta-analysis study. Int J Cancer (2012) 0.83
A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease. Am J Hum Genet (2002) 0.83
Magnetic resonance imaging "tigroid pattern" in Alexander disease. Neuropediatrics (2012) 0.82
Nuclear factor Y drives basal transcription of the human TLX3, a gene overexpressed in T-cell acute lymphocytic leukemia. Mol Cancer Res (2006) 0.82
In vitro treatments with ceftriaxone promote elimination of mutant glial fibrillary acidic protein and transcription down-regulation. Exp Cell Res (2010) 0.82
Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome. J Mol Med (Berl) (2011) 0.82
Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11). Eur J Hum Genet (2008) 0.82
Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome. Am J Respir Crit Care Med (2006) 0.82
Pupillometry in congenital central hypoventilation syndrome (CCHS): quantitative evidence of autonomic nervous system dysregulation. Pediatr Res (2012) 0.81
Glomerulocystic kidney disease in a family. Nephrol Dial Transplant (2002) 0.81
Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease. Eur J Hum Genet (2008) 0.81
PHOX2B mutations and genetic predisposition to neuroblastoma. Oncogene (2005) 0.81
Gender-specific association of sleep duration with blood pressure in rural Chinese adults. Sleep Med (2011) 0.81
Congenital central hypoventilation syndrome: neurocognitive functioning in school age children. Pediatr Pulmonol (2010) 0.80
A prospective observational study of associated anomalies in Hirschsprung's disease. Orphanet J Rare Dis (2013) 0.80
Ceftriaxone has a therapeutic role in Alexander disease. Prog Neuropsychopharmacol Biol Psychiatry (2009) 0.80
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Nicotine metabolizing genes GSTT1 and CYP1A1 in sudden infant death syndrome. Am J Med Genet A (2006) 0.80
Effect of Anticoagulants on Amyloid β-Protein Precursor and Amyloid Beta Levels in Plasma. J Alzheimers Dis Parkinsonism (2011) 0.80
3' UTR polymorphism of the serotonin transporter gene and sudden infant death syndrome: haplotype analysis. Am J Med Genet A (2006) 0.79