The Turkish Journal of Pediatrics
Smilar Issues: 110 Record Found
Mutation analysis of TSC2 gene in 33 Turkish familial cases with tuberous sclerosis Abstract Similar Articles Mail to Editor Byler's disease and anesthetic consideration Abstract Similar Articles Mail to Editor Neonatal screening Abstract Similar Articles Mail to Editor The effect of mannose-binding protein gene polymorphisms in recurrent respiratory system infections in children and lung tuberculosis Abstract Similar Articles Mail to Editor Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene Abstract Similar Articles Mail to Editor Analysis of the modifying effects of SAA1, SAA2 and TNF-alpha gene polymorphisms on development of amyloidosis in FMF patients Abstract Similar Articles Mail to Editor Inherited disorders of neonatal lung diseases Abstract Similar Articles Mail to Editor Maternal vitamin D deficiency and vitamin D supplementation in healthy infants Abstract Similar Articles Mail to Editor Wegener's granulomatosis in a 15-year-old boy Abstract Similar Articles Mail to Editor A new concept of skeletal dysplasias Abstract Similar Articles Mail to Editor The incidence and risk factors of neural tube defects in Izmir, Turkey: a nested case-control study Abstract Similar Articles Mail to Editor Alternative prognostic factors in pediatric embryonal rhabdomyosarcoma: Nm23 expression, proliferative activity and angiogenesis Abstract Similar Articles Mail to Editor The clinical and radiological assessment of cyclic intravenous pamidronate administration in children with osteogenesis imperfecta Abstract Similar Articles Mail to Editor Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy Abstract Similar Articles Mail to Editor Renal tubular dysgenesis-a case presentation Abstract Similar Articles Mail to Editor Meckel-Gruber syndrome associated with gastrointestinal tractus anomaly Abstract Similar Articles Mail to Editor Encopresis: long-term clinical outcome of 67 cases Abstract Similar Articles Mail to Editor An anencephalic monocephalus diprosopus “headed twin”: postmortem and CT findings with emphasis on the cranial bones Abstract Similar Articles Mail to Editor Familial ureteroceles: an evidence for genetic background? Abstract Similar Articles Mail to Editor Unilateral pulmonary agenesis associated with colloidal goiter in a newborn: a case report Abstract Similar Articles Mail to Editor Analysis of MTHFR 1298A>C in addition to MTHFR 677C>T polymorphism as a risk factor for neural tube defects in the Turkish population Abstract Similar Articles Mail to Editor Pediatric obstructive sleep apnea syndrome and anesthetic management Abstract Similar Articles Mail to Editor Variable expressivity of congenital longitudinal radial deficiency and spinal dysraphism in monozygotic twins Abstract Similar Articles Mail to Editor A case of Wiskott-Aldrich syndrome with de novo mutation at exon 4 Abstract Similar Articles Mail to Editor Low-dose intravenous pamidronate treatment in osteogenesis imperfecta Abstract Similar Articles Mail to Editor A case with proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H) associated with urogenital anomalies Abstract Similar Articles Mail to Editor ACE gene deletion/deletion polymorphism may be a protective factor for respiratory distress in preterm infants Abstract Similar Articles Mail to Editor Genetic factors in neonatal hyperbilirubinemia and kernicterus Abstract Similar Articles Mail to Editor Association between mannose binding lectin polymorphisms and predisposition to bacterial meningitis Abstract Similar Articles Mail to Editor A rare cause of neonatal seizure: incontinentia pigmenti Abstract Similar Articles Mail to Editor Application of medical genetics in Turkey Abstract Similar Articles Mail to Editor Correlation between vascular endothelial growth factor and leptin in children with cyanotic congenital heart disease Abstract Similar Articles Mail to Editor A novel missense mutation (N258S) in the KCNQ2 gene in a Turkish family afflicted with benign familial neonatal convulsions (BFNC) Abstract Similar Articles Mail to Editor What next in necrotizing enterocolitis? Abstract Similar Articles Mail to Editor Vitamin D receptor gene polymorphisms in Turkish children with vitamin D deficient rickets Abstract Similar Articles Mail to Editor Genetic dilemma: eNOS gene intron 4a/b VNTR polymorphism in sepsis and its clinical features in Turkish children Abstract Similar Articles Mail to Editor Mild Clinical Phenotype and Subtle Radiographic Findings in an Infant with Cartilage-Hair Hypoplasia Abstract Similar Articles Mail to Editor Pregnancy and Delivery Complications and Treatment Approach in Attention Deficit Hyperactivity Disorder Abstract Similar Articles Mail to Editor Kabuki make-up syndrome with unilateral renal agenesis Abstract Similar Articles Mail to Editor A novel mutation of the GLUT2 gene in a Turkish patient with Fanconi-Bickel syndrome Abstract Similar Articles Mail to Editor Pantothenate kinase-associated neurodegeneration (PKAN): molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene Abstract Similar Articles Mail to Editor Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: a case report Abstract Similar Articles Mail to Editor Tumor necrosis factor alpha -308 gene polymorphism in patients with anorexia nervosa Abstract Similar Articles Mail to Editor Abetalipoproteinemia in an infant with severe clinical phenotype and a novel mutation Abstract Similar Articles Mail to Editor Association Between the Glu298Asp and T(-786)C Polymorphisms of the Endothelial Nitric Oxide Synthase Gene and Respiratory Distress in Preterm Neonates Abstract Similar Articles Mail to Editor Two Cases with Megalencephalic Leukoencephalopathy with Subcortical Cysts and MLC1 Mutations in the Turkish Population Abstract Similar Articles Mail to Editor Clinical Course of Primary Focal Segmental Glomerulosclerosis (FSGS) in Turkish Children:A Report from the Turkish Pediatric Nephrology FSGS Study Group Abstract Similar Articles Mail to Editor Home Mechanical Ventilation: Outcomes According to Remoteness from Health Center and Different Family Education Levels Abstract Similar Articles Mail to Editor Meningococcal Disease in Children: A Clinical Review Abstract Similar Articles Mail to Editor Pediatric Tracheotomy: 3-Year Experience at a Tertiary Care Center with 54 Children Abstract Similar Articles Mail to Editor Isolated Pericardial Agenesis Revealed by Bradycardia and Heart MRI in a Healthy 5-Year-Old Child Abstract Similar Articles Mail to Editor Transforming Growth Factor-Beta1 (509 C/T, 915 G/C, 869 T/C) Polymorphisms Are Not Related to Obesity in Turkish Children Abstract Similar Articles Mail to Editor Leptin Receptor Gene Gln223Arg Polymorphism is not Associated with Obesity and Metabolic Syndrome in Turkish Children Abstract Similar Articles Mail to Editor Sjögren-Larsson Syndrome: Report of Monozygote Twins and a Case with a Novel Mutation Abstract Similar Articles Mail to Editor Ganglioneuroma in a Child with Hereditary Spherocytosis Abstract Similar Articles Mail to Editor Rubella Vaccination during the Preconception Period or in Pregnancy and Perinatal and Fetal Outcomes Abstract Similar Articles Mail to Editor A Case of Mowat-Wilson Syndrome Caused by a Truncating Mutation within Exon 8 of the ZEB2 Gene Abstract Similar Articles Mail to Editor The MEFV gene and clonal myeloid disorders Abstract Similar Articles Mail to Editor Association between C677T and A1298C MTHFR Gene Polymorphism and Nonsyndromic Orofacial Clefts in the Turkish Population: A Case-Parent Study Abstract Similar Articles Mail to Editor A Novel OCRL1 Gene Mutation in a Turkish Child with Lowe Syndrome Abstract Similar Articles Mail to Editor Thyroid Hormone Resistance: A Novel Mutation in Thyroid Hormone Receptor Beta (THRB) Gene - Case Report Abstract Similar Articles Mail to Editor Short- and Long-Term Effects of Individualized Enteral Protein Supplementation in Preterm Newborns Abstract Similar Articles Mail to Editor Late Neonatal Hypocalcemic Tetany as a Manifestation of Unrecognized Maternal Primary Hyperparathyroidism Abstract Similar Articles Mail to Editor Renal outcome of children with unilateral renal agenesis Abstract Similar Articles Mail to Editor Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation Abstract Similar Articles Mail to Editor The first case of Bruck syndrome associated with gastroschisis Abstract Similar Articles Mail to Editor An Uncommon Disorder with Multiple Skeletal Anomalies: Gorlin-Goltz Syndrome Abstract Similar Articles Mail to Editor Jervell and Lange-Nielsen Syndrome with Homozygous Missense Mutation of the KCNQ1 Gene Abstract Similar Articles Mail to Editor Mannose-Binding Lectin May Affect Pregnancy Outcome Abstract Similar Articles Mail to Editor Neonates with Inborn Errors of Metabolism: Spectrum and Short-Term Outcomes at a Tertiary Care Hospital Abstract Similar Articles Mail to Editor Childhood Epilepsy with Occipital Paroxysm: Classification, Atypical Evolution and Long-Term Prognosis in 35 Patients Abstract Similar Articles Mail to Editor Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia Abstract Similar Articles Mail to Editor Relation between microalbuminuria and gene mutations in familial Mediterranean fever Abstract Similar Articles Mail to Editor Ataxia with vitamin E deficiency associated with deafness Abstract Similar Articles Mail to Editor A causal relationship between UDP-glucuronosyltransferase 1A1 promoter polymorphism and idiopathic hyperbilirubinemia in Turkish newborns Abstract Similar Articles Mail to Editor Enzyme Replacement Therapy with Galsulfase for Mucopolysaccharidosis VI: Clinical Facts and Figures Abstract Similar Articles Mail to Editor Propranolol for Infantile Hemangiomas: A Preliminary Report on Efficacy and Safety in Very Low Weight Infants Abstract Similar Articles Mail to Editor Novel Nonsense Mutation of GPC3 Gene in a Patient with Simpson-Golabi-Behmel Syndrome Abstract Similar Articles Mail to Editor The EEC Syndrome and SHFM: Report of Two Cases and Mutation Analysis of p63 Gene Abstract Similar Articles Mail to Editor An Extremely Rare Cause of Generalized Lymphadenopathy in Children: Kimura's Disease Abstract Similar Articles Mail to Editor Assessment of "General Movements" in High-Risk Infants by Prechtl Analysis During Early Intervention Period in the First Year of Life Abstract Similar Articles Mail to Editor Meconium Aspiration Syndrome: Do We Know? Abstract Similar Articles Mail to Editor Three Cases of a Rare Disease, Congenital Chloride Diarrhea, Summons Up the Variation in the Clinical Course and Significance of Early Diagnosis and Adequate Treatment in the Prevention of Intellectual Disability Abstract Similar Articles Mail to Editor Localized Acute Generalized Exanthematous Pustulosis with Amoxicillin and Clavulanic Acid Abstract Similar Articles Mail to Editor Outcome of Enzyme Replacement Therapy in Turkish Patients with Gaucher Disease: Does Late Intervention Affect the Response Abstract Similar Articles Mail to Editor Association between genotype, clinical presentation, and severity of congenital adrenal hyperplasia: a review Abstract Similar Articles Mail to Editor Chronic kidney disease in an adolescent with hyperuricemia: familial juvenile hyperuricemic nephropathy Abstract Similar Articles Mail to Editor Myopia, Visual Acuity and Strabismus in the Long Term Following Treatment of Retinopathy of Prematurity Abstract Similar Articles Mail to Editor Comparison of the BD GeneOhm VanR Assay and a Chromogenic Agar-Based Culture Method in Screening for Vancomycin-Resistant Enterococci in Rectal Specimens of Pediatric Hematology-Oncology Patients Abstract Similar Articles Mail to Editor Turkish Cases of Early Infantile Epileptic Encephalopathy: Two Novel Mutations in the Cyclin-Dependent Kinase-Like 5 (CDKL5) Gene Abstract Similar Articles Mail to Editor An Easily Missed Diagnosis: 17-Alpha-Hydroxylase/17,20-Lyase Deficiency Abstract Similar Articles Mail to Editor Molecular Diagnosis of Fanconi Anemia with Next-Generation Sequencing in a Case with Subtle Signs and a Negative Chromosomal Breakage Test Abstract Similar Articles Mail to Editor TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 Presenting with Exaggerated Startle Response: Report of Two Cases in a Family Abstract Similar Articles Mail to Editor Surgical and clinical strategies in the management of thyroid medullary carcinoma in children with and without ret proto-oncogene mutations Abstract Similar Articles Mail to Editor Two newborn babies with generalized arterial calcification of infancy, two new mutations Abstract Similar Articles Mail to Editor Are the methylenetetrahydrofolate reductase 1298 and 677 gene polymorphisms related to optic glioma and hamartoma risk in neurofibromatosis type 1 patients? Abstract Similar Articles Mail to Editor Recessive congenital methemoglobinemia in immediate generations Abstract Similar Articles Mail to Editor A novel mutation in a case of pseudohypoparathyroidism type Ia Abstract Similar Articles Mail to Editor A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures Abstract Similar Articles Mail to Editor The comparison of general movements assessment and neurological examination during early infancy Abstract Similar Articles Mail to Editor Gonadoblastoma in a patient with 46, XY complete gonadal dysgenesis Abstract Similar Articles Mail to Editor Congenital insensitivity to pain: How should anesthesia be managed? Abstract Similar Articles Mail to Editor An infant with glutaric aciduria type IIc diagnosed with a novel mutation Abstract Similar Articles Mail to Editor Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation Abstract Similar Articles Mail to Editor Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2 Abstract Similar Articles Mail to Editor Systems-level analysis of genome wide association study results for a pilot juvenile idiopathic arthritis family study Abstract Similar Articles Mail to Editor Hemolytic uremic syndrome with multiple organ involvement secondary to complement factor H p.Arg1215X mutation Abstract Similar Articles Mail to Editor Child with RET proto-oncogene codon 634 mutation Abstract Similar Articles Mail to Editor Epidemiological features and risks of hemangiomas Abstract Similar Articles Mail to Editor Frequency of thiopurine S-methyltransferase gene variations in Turkish children with acute leukemia Abstract Similar Articles Mail to Editor
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