Published in Genet Med on March 01, 2006
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Alternative splicing and tumor progression. Curr Genomics (2008) 1.43
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PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine. Neurology (2012) 1.32
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Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. Hum Mutat (2002) 1.13
Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia. Nat Commun (2012) 1.13
Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations. Liver Int (2006) 1.13
The incidence of Rett syndrome in France. Pediatr Neurol (2006) 1.09
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Different endoscopic surgical strategies in the management of inverted papilloma of the sinonasal tract: experience with 47 patients. Laryngoscope (2004) 1.05
Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations. Blood (2010) 1.04
Italian consensus guidelines for chronic pancreatitis. Dig Liver Dis (2010) 1.02
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Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia. Br J Haematol (2009) 0.96
Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers. Epilepsia (2013) 0.95
Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome. Eur J Pediatr (2002) 0.95
Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies. Genes Chromosomes Cancer (2006) 0.95
Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II. J Inherit Metab Dis (2010) 0.95
Hyoidthyroidpexia as a treatment in multilevel surgery for obstructive sleep apnea. Acta Otolaryngol (2008) 0.94
Cutaneous metaplastic synovial cyst in Ehlers-Danlos syndrome: report of a second case. Am J Dermatopathol (2008) 0.93
High prevalence of hepatic focal nodular hyperplasia in subjects with hereditary hemorrhagic telangiectasia. Ultrasound Med Biol (2004) 0.93
Muscle MRI in adult-onset acid maltase deficiency. Neuromuscul Disord (2004) 0.92
Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective Fas function. Blood (2006) 0.92
Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies. J Hum Genet (2007) 0.91
Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A. Hum Mutat (2014) 0.90
TGF-β1 induces endothelial cell apoptosis by shifting VEGF activation of p38(MAPK) from the prosurvival p38β to proapoptotic p38α. Mol Cancer Res (2012) 0.90
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Adenotonsillectomy in obstructive sleep apnea syndrome. Proposal of a surgical decision-taking algorithm. Int J Pediatr Otorhinolaryngol (2007) 0.90
A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2. Epilepsia (2013) 0.89
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. Hum Mutat (2011) 0.89
Clinical, genetic and immunologic analysis of a family affected by ozena. Eur Arch Otorhinolaryngol (2003) 0.89
Brain structure in asymptomatic FMR1 premutation carriers at risk for fragile X-associated tremor/ataxia syndrome. Neurobiol Aging (2013) 0.89
Role of adenoids and adenoiditis in children with allergy and otitis media. Curr Allergy Asthma Rep (2009) 0.88
Tubacin prevents neuronal migration defects and epileptic activity caused by rat Srpx2 silencing in utero. Brain (2013) 0.88
Pancreatic involvement in von Hippel-Lindau disease: report of two cases and review of the literature. Am J Gastroenterol (2006) 0.87
Haemophagocytic lymphohistiocytosis: proposal of a diagnostic algorithm based on perforin expression. Br J Haematol (2002) 0.87
Specific polymorphisms of cytokine genes are associated with different risks to develop single-system or multi-system childhood Langerhans cell histiocytosis. Br J Haematol (2006) 0.86
Hemorrhagic hereditary telangiectasia (Rendu-Osler disease) and infectious diseases: an underestimated association. Clin Infect Dis (2007) 0.86
Functional variants of POC5 identified in patients with idiopathic scoliosis. J Clin Invest (2015) 0.85
Confocal endomicroscopic aspects in Whipple's disease. Gastrointest Endosc (2008) 0.85
Changes in skeletal muscle qualities during enzyme replacement therapy in late-onset type II glycogenosis: temporal and spatial pattern of mass vs. strength response. J Inherit Metab Dis (2010) 0.85
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features. Neurology (2016) 0.85
The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease. Genet Med (2010) 0.84
A novel three base-pair LGI1 deletion leading to loss of function in a family with autosomal dominant lateral temporal epilepsy and migraine-like episodes. Epilepsy Res (2009) 0.83
A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion. Am J Med Genet A (2014) 0.83
Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene. Eur J Hum Genet (2006) 0.82
Right ventricular pump function after cardiac resynchronization therapy: a strain imaging study. Arch Cardiovasc Dis (2008) 0.82
Ptosis in Pompe disease: common genetic background in infantile and adult series. J Neuroophthalmol (2010) 0.82
Interobserver agreement in staging gastric malt lymphoma by EUS. Gastrointest Endosc (2002) 0.81
Genotype-phenotype correlation in Pompe disease, a step forward. Orphanet J Rare Dis (2014) 0.81
Can genes influencing muscle function affect the therapeutic response to enzyme replacement therapy (ERT) in late-onset type II glycogenosis? Mol Genet Metab (2012) 0.81
An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) current. Epilepsia (2013) 0.81
Passive exposure to smoke results in defective interferon-gamma production by adenoids in children with recurrent respiratory infections. J Interferon Cytokine Res (2009) 0.81
The 10-day mark is a good way to diagnose not only acute rhinosinusitis but also adenoiditis, as confirmed by endoscopy. Int J Pediatr Otorhinolaryngol (2007) 0.80
Bioinformatic analysis of pathogenic missense mutations of activin receptor like kinase 1 ectodomain. PLoS One (2011) 0.80
Adenoids in children: Advances in immunology, diagnosis, and surgery. Clin Anat (2014) 0.80
Endoscopic treatment of ethmoidal hemangioendothelioma: case report and review of the literature. Am J Otolaryngol (2006) 0.80
Endoscopic ultrasonography findings in autoimmune pancreatitis: be aware of the ambiguous features and look for the pivotal ones. JOP (2010) 0.80
Advanced magnetic resonance imaging in benign hereditary chorea: study of two familial cases. Mov Disord (2010) 0.80
Detection of gastric precancerous conditions in daily clinical practice: a nationwide survey. Helicobacter (2014) 0.80
Endoscopic resection of nasal haemangiopericytoma. Eur Arch Otorhinolaryngol (2002) 0.80
Ptosis as a feature of late-onset glycogenosis type II. Neurology (2007) 0.80