Published in Pediatr Int on April 01, 2008
Changes in frontal-parietal activation and math skills performance following adaptive number sense training: preliminary results from a pilot study. Neuropsychol Rehabil (2011) 0.91
Parent of origin effects on age at colorectal cancer diagnosis. Int J Cancer (2010) 0.80
Genomic imprinting effects on cognitive and social abilities in prepubertal girls with Turner syndrome. J Clin Endocrinol Metab (2012) 0.80
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med (2014) 4.70
Mannan-binding lectin-associated serine protease (MASP)-1 is crucial for lectin pathway activation in human serum, whereas neither MASP-1 nor MASP-3 is required for alternative pathway function. J Immunol (2012) 3.86
GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet (2005) 2.63
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. Nat Genet (2012) 2.43
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet (2008) 2.33
GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis. Hum Mutat (2013) 2.23
Passive smoking increases pain perception in children undergoing venous catheterization. Acta Paediatr (2013) 2.02
Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency. Genes Dev (2003) 1.93
A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis. Nat Genet (2006) 1.90
Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss. PLoS One (2012) 1.83
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Hum Genet (2002) 1.80
Modulation of Fgf3 dosage in mouse and men mirrors evolution of mammalian dentition. Proc Natl Acad Sci U S A (2009) 1.76
Phylogeographic analysis of haplogroup E3b (E-M215) y chromosomes reveals multiple migratory events within and out of Africa. Am J Hum Genet (2004) 1.76
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. Am J Hum Genet (2011) 1.64
Carbon monoxide poisoning associated with water pipe smoking. Clin Toxicol (Phila) (2011) 1.63
MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. Am J Hum Genet (2010) 1.51
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet (2010) 1.49
Polymorphisms of 5,10-methylenetetrahydrofolate reductase and cystathionine beta-synthase genes as a risk factor for neural tube defects in Sétif, Algeria. Pediatr Neurosurg (2010) 1.48
Methylenetetrahydrofolate reductase 677 C-T and homocysteine levels in Turkish patients with pseudoexfoliation. Clin Experiment Ophthalmol (2005) 1.47
Assessment of ventricular repolarization in a large group of children with early onset deafness. Pacing Clin Electrophysiol (2004) 1.46
Functional ovarian hyperandrogenism and polycystic ovary syndrome in prepubertal girls with obesity and/or premature pubarche. J Pediatr Endocrinol Metab (2007) 1.43
Thrombophilia and avascular necrosis of femoral head in kidney allograft recipients. Nephrol Dial Transplant (2006) 1.41
Report of the first case of precocious puberty in Rett syndrome. J Pediatr Endocrinol Metab (2013) 1.41
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Hum Mol Genet (2009) 1.40
Hypophosphatasia associated with pseudotumor cerebri and respiratory insufficiency. Indian J Pediatr (2008) 1.40
Thrombophilic risk factors in epileptic children treated with valproic Acid. Pediatr Neurol (2009) 1.40
A case report of neonatal diabetes due to neonatal hemochromatosis. J Pediatr Endocrinol Metab (2010) 1.39
Autosomal recessive nonsyndromic deafness genes: a review. Front Biosci (Landmark Ed) (2012) 1.39
Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations. J Clin Endocrinol Metab (2004) 1.29
Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia. Am J Hum Genet (2006) 1.27
Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients. J Clin Endocrinol Metab (2010) 1.21
Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey. Genet Test Mol Biomarkers (2010) 1.20
MLL2 and KDM6A mutations in patients with Kabuki syndrome. Am J Med Genet A (2013) 1.19
Challenges in whole exome sequencing: an example from hereditary deafness. PLoS One (2012) 1.17
Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations. Int J Pediatr Otorhinolaryngol (2009) 1.17
Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss. Am J Hum Genet (2012) 1.15
Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation. Am J Hum Genet (2012) 1.14
DNASE1L3 mutations in hypocomplementemic urticarial vasculitis syndrome. Arthritis Rheum (2013) 1.13
Mutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noise. Proc Natl Acad Sci U S A (2013) 1.12
A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss. Am J Hum Genet (2010) 1.11
Recurrent and private MYO15A mutations are associated with deafness in the Turkish population. Genet Test Mol Biomarkers (2010) 1.11
Risk of venous thromboembolism associated with single and combined effects of Factor V Leiden, Prothrombin 20210A and Methylenetethraydrofolate reductase C677T: a meta-analysis involving over 11,000 cases and 21,000 controls. Eur J Epidemiol (2013) 1.09
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome. Am J Hum Genet (2012) 1.08
De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis. Hum Genet (2013) 1.07
Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population. Hum Genomics (2006) 1.06
Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b. J Clin Endocrinol Metab (2005) 1.05
Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community. Clin Endocrinol (Oxf) (2013) 1.05
Insulin oedema in newly diagnosed type 1 diabetes mellitus. J Clin Res Pediatr Endocrinol (2010) 1.04
Single nucleotide polymorphisms that affect homocysteine levels in Turkish population. Clin Appl Thromb Hemost (2008) 1.04
Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome. Am J Med Genet A (2012) 1.03
Testis sparing surgery for steroid unresponsive testicular tumors of the congenital adrenal hyperplasia. Pediatr Surg Int (2005) 1.02
Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism. Clin Endocrinol (Oxf) (2010) 1.00
The c.IVS1+1G>A mutation in the GJB2 gene is prevalent and large deletions involving the GJB6 gene are not present in the Turkish population. J Genet (2006) 0.99
Effect of twice weekly versus daily iron treatment in Turkish children with iron deficiency anemia. Pediatr Hematol Oncol (2003) 0.99
Reversible protease-activated receptor 1 downregulation mediated by Ankaferd blood stopper inducible with lipopolysaccharides inside the human umbilical vein endothelial cells. Clin Appl Thromb Hemost (2011) 0.97
High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects. Genet Test Mol Biomarkers (2010) 0.96
Genome-wide transcriptional reorganization associated with senescence-to-immortality switch during human hepatocellular carcinogenesis. PLoS One (2013) 0.95
The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype. Am J Med Genet A (2004) 0.95
A truncating DUOX2 mutation (R434X) causes severe congenital hypothyroidism. J Pediatr Endocrinol Metab (2014) 0.95
A comparative analysis of the genetic epidemiology of deafness in the United States in two sets of pedigrees collected more than a century apart. Am J Hum Genet (2008) 0.95
Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: roles of parental consanguinity and assortative mating. Hum Mutat (2003) 0.94
Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy. Eur J Pediatr (2014) 0.93
Tumor necrosis factor alpha-308 gene polymorphism and pseudoexfoliation glaucoma. Mol Vis (2008) 0.93
Next-generation sequencing in genetic hearing loss. Genet Test Mol Biomarkers (2013) 0.93
Factor VIII levels in children with thrombosis. Pediatr Int (2003) 0.93
Restriction endonuclease analysis as a solution for determining rifampin resistance mutations by automated DNA sequencing in heteroresistant Mycobacterium tuberculosis strains. Microb Drug Resist (2005) 0.92
The relationship between pediatric nonalcoholic fatty liver disease and cardiovascular risk factors and increased risk of atherosclerosis in obese children. Pediatr Cardiol (2012) 0.92
Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy. Rheumatol Int (2009) 0.92
The prevalence of methylenetetrahydrofolate reductase 677 C-T, factor V 1691 G-A, and prothrombin 20210 G-A mutations in healthy populations in Setif, Algeria. Clin Appl Thromb Hemost (2008) 0.92
Experience with long-term glucocorticoid treatment in congenital adrenal hyperplasia: growth pattern compared with genetic height potential. J Pediatr Endocrinol Metab (2006) 0.91
Endothelial cell protein C receptor (EPCR) gene exon III, 23 bp insertion mutation in the Turkish pediatric thrombotic patients. Thromb Haemost (2002) 0.91
Screening of OTOF mutations in Iran: a novel mutation and review. Int J Pediatr Otorhinolaryngol (2012) 0.91
Keratin 8 sequence variants in patients with pancreatitis and pancreatic cancer. J Mol Med (Berl) (2006) 0.91
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene. Eur J Hum Genet (2008) 0.91
Diabetes care, glycemic control, complications, and concomitant autoimmune diseases in children with type 1 diabetes in Turkey: a multicenter study. J Clin Res Pediatr Endocrinol (2013) 0.91
The effects of Ankaferd® Blood Stopper on transcription factors in HUVEC and the erythrocyte protein profile. Turk J Haematol (2011) 0.91
Iatrogenic Cushing syndrome due to nasal steroid drops. Eur J Pediatr (2011) 0.90
Chudley-McCullough syndrome: expanded phenotype and review of the literature. Am J Med Genet A (2003) 0.89
Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray. Mol Cytogenet (2013) 0.89
Prothrombin gene 20209 C >T along with the first description of a homozygous polymorphism at the 3' downstream region +4 C >T in the Turkish population. Lab Hematol (2006) 0.89
Early and severe presentation of vitamin D deficiency and nutritional rickets among hospitalized infants and the effective factors. Turk J Pediatr (2009) 0.89
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. Hum Genet (2014) 0.89
Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss. Genet Test Mol Biomarkers (2014) 0.89
Prevalence of the MEFV gene mutations in childhood polyarteritis nodosa. J Pediatr (2007) 0.89
Relationship between susceptibility to antimicrobials and virulence factors in paediatric Escherichia coli isolates. Int J Antimicrob Agents (2007) 0.88
EPCR gene A3 haplotype and elevated soluble endothelial protein C receptor (sEPCR) levels in Turkish pediatric stroke patients. Thromb Res (2006) 0.88
TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis. J Pediatr Endocrinol Metab (2012) 0.88
Blood group genotyping in multi-transfused patients. Transfus Apher Sci (2013) 0.88
The endocrine spectrum of intracranial cysts in childhood and review of the literature. J Pediatr Endocrinol Metab (2011) 0.88
A common thyroid peroxidase gene mutation (G319R) in Turkish patients with congenital hypothyroidism could be due to a founder effect. J Pediatr Endocrinol Metab (2014) 0.88
Relationship between intraocular pressure and obesity in children. J Glaucoma (2007) 0.88
A note on mutation analysis in familial Mediterranean fever. Pediatr Nephrol (2003) 0.87