Published in Eur J Med Genet on March 19, 2009
Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome. Am J Hum Genet (2010) 1.18
Anterior segment dysgenesis and early-onset glaucoma in nee mice with mutation of Sh3pxd2b. Invest Ophthalmol Vis Sci (2011) 0.98
Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure. BMC Med Genet (2012) 0.89
Congenital glaucoma as an ophthalmic manifestation of Frank-Ter Haar syndrome. Int Ophthalmol (2013) 0.80
Localization of SH3PXD2B in human eyes and detection of rare variants in patients with anterior segment diseases and glaucoma. Mol Vis (2012) 0.77
Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO. Science (2013) 3.45
Increased aortic intima-media thickness is related to lipid profile in newborns with intrauterine growth restriction. Horm Res (2006) 1.02
Iodine status remains critical in mother and infant in Central Anatolia (Kayseri) of Turkey. Eur J Nutr (2004) 1.02
Natural exposure to cutaneous anthrax gives long-lasting T cell immunity encompassing infection-specific epitopes. J Immunol (2010) 1.02
TRMA syndrome (thiamine-responsive megaloblastic anemia): a case report and review of the literature. Pediatr Diabetes (2002) 0.99
Influence of maternal smoking on neonatal aortic intima-media thickness, serum IGF-I and IGFBP-3 levels. Eur J Pediatr (2007) 0.98
Septic arthritis in patients followed-up in neonatal intensive care unit. Pediatr Int (2002) 0.97
Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. Am J Hum Genet (2013) 0.95
Harlequin baby with ecthyma gangrenosum. Pediatr Dermatol (2003) 0.95
Asymmetric crying facies associated with congenital hypoparathyroidism and 22q11 deletion. Turk J Pediatr (2004) 0.94
Hyperintense globus pallidus on T1-weighted MR imaging in acute kernicterus: is it common or rare? Eur Radiol (2004) 0.93
Intima-media thickness of the abdominal aorta of neonate with different gestational ages. J Clin Ultrasound (2007) 0.90
Prevalence of cutaneous findings in hospitalized neonates: a prospective observational study. Pediatr Dermatol (2009) 0.89
Combined occurrence of Alström syndrome and bronchiectasis. Pediatrics (2014) 0.87
Unbalanced 3;22 translocation with 22q11 and 3p deletion syndrome. Am J Med Genet A (2010) 0.87
Complete penoscrotal transposition associated with aortic stenosis in a newborn. J Pediatr Endocrinol Metab (2007) 0.87
Post-operative subcutaneous fat necrosis in a newborn: a case report. Fetal Pediatr Pathol (2011) 0.86
Thiamine withdrawal can lead to diabetic ketoacidosis in thiamine responsive megaloblastic anemia: report of two siblings. J Pediatr Endocrinol Metab (2008) 0.86
Arrhythmogenic right ventricular cardiomyopathy (Naxos disease): report of a Turkish boy. Pacing Clin Electrophysiol (2003) 0.85
Cutis laxa associated with central hypothyroidism owing to isolated thyrotropin deficiency in a newborn. Pediatr Dermatol (2007) 0.85
Aortic intima-media thickness and lipid profile in macrosomic newborns. Eur J Pediatr (2006) 0.84
Aortic intima-media thickness, serum IGF-I, IGFBP-3, and leptin levels in intrauterine growth-restricted newborns of healthy mothers. Pediatr Res (2007) 0.84
Blueberry muffin syndrome owing to congenital rubella: case report. Ann Trop Paediatr (2006) 0.84
Is increased intima-media thickness associated with preatherosclerotic changes in intrauterine growth restricted newborns? Acta Paediatr (2007) 0.83
An epitope of Bacillus anthracis protective antigen that is cryptic in rabbits may be immunodominant in humans. Infect Immun (2010) 0.83
Apolipoprotein E3/E3 genotype decreases the risk of pituitary dysfunction after traumatic brain injury due to various causes: preliminary data. J Neurotrauma (2008) 0.82
Holt-Oram syndrome in two generations with translocation t(9;15)(p12;q11.2). Ann Saudi Med (2008) 0.82
Rubella-associated hemophagocytic syndrome in an infant. J Pediatr Hematol Oncol (2005) 0.81
Association of TNF-α -308 G > A and ACE I/D gene polymorphisms in hemodialysis patients with arteriovenous fistula thrombosis. Int Urol Nephrol (2013) 0.80
Gastroenteric duplication cysts in a newborn: unusual clinical and radiologic presentations. Pediatr Dev Pathol (2008) 0.80
Can we safely administer the recommended dose of phenobarbital in very low birth weight infants? Childs Nerv Syst (2013) 0.80
Methylation status of CpG islands at sites -59 to +96 in exon 1 of the BRCA2 gene varies in mammary tissue among women with sporadic breast cancer. J Genet (2008) 0.80
Relationship between cord blood levels of IGF-I and ferritin in healthy term neonates. J Pediatr Endocrinol Metab (2004) 0.80
Congenital hypothyroidism associated with Rubinstein-Taybi syndrome. J Pediatr Endocrinol Metab (2003) 0.80
Severe hyperinsulinaemic hypoglycaemia in a baby born to a mother taking oral ritodrine therapy for preterm labour. Horm Res (2005) 0.79
Thyroid functions of neonates with Down syndrome. Ital J Pediatr (2012) 0.79
A molecular analysis of familial Mediterranean fever disease in a cohort of Turkish patients. Ann Saudi Med (2012) 0.79
The effects of intraperitoneal pentoxifylline treatment in rat pups with hypoxic-ischemic encephalopathy. Pediatr Neurol (2013) 0.78
Serum insulin-like growth factor-I (IGF-I) IGF binding protein-3 (IGFBP-3) and leptin levels are related to abdominal aortic intima-media thickness in macrosomic newborns. Growth Horm IGF Res (2006) 0.78
The relationship between slow coronary flow and angiotensin converting enzyme and ATIIR1 gene polymorphisms. J Natl Med Assoc (2009) 0.78
Femoral hypoplasia in two newborns associated with maternal diabetes mellitus. J Pediatr Endocrinol Metab (2007) 0.78
Association of endothelial nitric oxide synthase gene polymorphisms (894G/T, -786T/C, G10T) and clinical findings in patients with migraine. Neuromolecular Med (2014) 0.78
GnRH-II mRNA expression in tumor tissue and peripheral blood mononuclear cells (PBMCs) in patients with malignant and benign ovarian tumors. Eur J Obstet Gynecol Reprod Biol (2009) 0.77
The effect of maras powder on DNA methylation and micronucleus formation in human buccal tissue. J Toxicol Environ Health A (2008) 0.77
A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever. BMC Med Genet (2014) 0.77
Evaluation of the nucleolar organizer regions in Alzheimer's disease. Gerontology (2005) 0.77
The relationship between birth weight, oxidative stress and bone mineral status in newborn infants. J Paediatr Child Health (2007) 0.77
Antimeasles antibodies in preterm infants during early infancy in Turkey. Ann Trop Paediatr (2007) 0.77
Age-dependent decreases in mitogen-stimulation level and RNA content in peripheral blood mononuclear cells of Down syndrome patients. Cytometry B Clin Cytom (2007) 0.77
Do thrombophilic gene mutations have a role on thromboembolic events in cancer patients? Asia Pac J Clin Oncol (2012) 0.77
Investigation of the serum glucocorticoid kinase 1 gene in patients with transient tachypnea of the newborn. J Matern Fetal Neonatal Med (2013) 0.77
Poland anomaly and hydranencephaly: An unusual association. Am J Med Genet A (2010) 0.76
Detection of p16 promotor hypermethylation in "Maras powder" and tobacco users. Cancer Epidemiol (2009) 0.76
Inherited prothrombotic risk factors in Turkish children with acute lymphoblastic leukemia: significance of concomitant genetic mutation. Clin Appl Thromb Hemost (2011) 0.76
Magnetic resonance spectroscopy in two siblings with chorea-acanthocytosis. Mov Disord (2010) 0.76
The role of VEGF and its soluble receptor VEGFR-1 in preterm newborns of preeclamptic mothers with RDS. J Matern Fetal Neonatal Med (2013) 0.75
Comment on "Frequency of epitope-specific naive CD4+ T cells correlates with immunodominance in the human memory repertoire". J Immunol (2012) 0.75
Alpha-fetoprotein levels in the neonatal period. Eur J Pediatr (2007) 0.75
Cerebellar hemangioblastoma associated with diffuse neonatal hemangiomatosis in an infant. Childs Nerv Syst (2012) 0.75
Serum leptin levels in patients with childhood immune thrombocytopenic purpura. J Pediatr Hematol Oncol (2007) 0.75
Down syndrome like appearance with a novel de novo translocation t(6;21)(q21;q13). Indian J Med Res (2008) 0.75
Adrenal haemorrhage with cholestasis and adrenal crisis in a newborn of a diabetic mother. J Pediatr Endocrinol Metab (2007) 0.75
Transient proteinuria in an infant born to a mother with HELLP syndrome. Eur J Pediatr (2002) 0.75
Anticarcinogenic and antimitotic effects of Turkish propolis and mitomycin-C on tissue cultures of bladder cancer. Nat Prod Res (2008) 0.75
The effect of folic acid, vitamin B6 and vitamin B12 on the homocysteine levels in rabbits fed by methionine-enriched diets. Tohoku J Exp Med (2002) 0.75
Congenital goiter in premature twins due to propylthiouracil treatment. J Pediatr Endocrinol Metab (2007) 0.75
A Turner patient with a 45,X,t(1;2) (q41;p11.2) karyotype. Ann Genet (2003) 0.75
Primary gangrenous cutaneous mucormycosis of the scalp in a child: a case report. Pediatr Emerg Care (2008) 0.75
Brucellosis with pulmonary involvement in a premature infant. Ann Trop Paediatr (2006) 0.75
Congenital neuroblastoma with cutaneous metastases. Indian Pediatr (2002) 0.75
Expression of WT1 gene in multiple myeloma patients at diagnosis: is WT1 gene expression a useful marker in multiple myeloma? Hematology (2010) 0.75
Is the strength of direct antiglobulin test important for the duration of phototherapy? J Matern Fetal Neonatal Med (2013) 0.75
Does the level of WT1 expression predict the outcome in Philadelphia-negative myeloproliferative neoplasms? Genet Test Mol Biomarkers (2015) 0.75
Idiopathic hirsutism: local and peripheral expression of aromatase (CYP19A) and 5α-reductase genes (SRD5A1 and SRD5A2). Fertil Steril (2011) 0.75
How the I1307K adenomatous polyposis coli gene variant contributes in the assessment of risk of colorectal cancer, but not stomach cancer, in a Turkish population. Cancer Genet Cytogenet (2007) 0.75
Phenytoin therapy in a neonate diagnosed with epidermolysis bullosa. Int J Dermatol (2013) 0.75
Triple-x syndrome accompanied by congenital adrenal hyperplasia: case report. Turk J Pediatr (2005) 0.75
Werdnig-Hoffmann disease with congenital hypothyroidism. Ann Trop Paediatr (2003) 0.75
Holoprosencephaly: ZIC2 mutation in a case with panhypopituitarism. J Pediatr Endocrinol Metab (2014) 0.75
Serum insulin-like growth factor-I (IGF-I), IGF-binding protein-3, and growth hormone levels in collodion babies: a case-control study. J Pediatr Endocrinol Metab (2008) 0.75