The Turkish Journal of Pediatrics
Smilar Issues: 101 Record Found
Mutation analysis of TSC2 gene in 33 Turkish familial cases with tuberous sclerosis Abstract Similar Articles Mail to Editor Alpha-mannosidosis and mutational analysis in a Turkish patient Abstract Similar Articles Mail to Editor Trauma as a risk factor for thrombosis in children: A report of three cases Abstract Similar Articles Mail to Editor Defective anti-polysaccharide antibody response in patients with ataxia-telangiectasia Abstract Similar Articles Mail to Editor A new concept of skeletal dysplasias Abstract Similar Articles Mail to Editor Hypercalciuria and nephrocalcinosis in cystic fibrosis patients Abstract Similar Articles Mail to Editor Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy Abstract Similar Articles Mail to Editor Using computer based data acquisition and analysis system for nasal potential difference measurement in cystic fibrosis Abstract Similar Articles Mail to Editor Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations Abstract Similar Articles Mail to Editor Chronic hereditary pancreatitis with N29I mutation in a Turkish child Abstract Similar Articles Mail to Editor Catheter-associated recurrent intracardiac thrombosis and factor V Leiden mutation in a child with non-Hodgkin’s lymphoma Abstract Similar Articles Mail to Editor A novel mutation leading to a deletion in the SH3 domain of Bruton’s tyrosine kinase Abstract Similar Articles Mail to Editor Modified oral rehydration therapy in a case with cystic fibrosis Abstract Similar Articles Mail to Editor A rare cause of neonatal seizure: incontinentia pigmenti Abstract Similar Articles Mail to Editor Mutational analysis of the human MBX gene in four Korean families demonstrating microphthalmia with congenital cataract 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 Long-Term Clarithromycin in Cystic Fibrosis: Effects on Inflammatory Markers in BAL and Clinical Status Abstract Similar Articles Mail to Editor Cystic fibrosis with acute myelogenous leukemia 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 Resistance to thyroid hormone in a Turkish child with A317T mutation in the thyroid hormone receptor-beta gene Abstract Similar Articles Mail to Editor Screening for liver disease in cystic fibrosis: analysis of clinical and genetic risk factors for its development Abstract Similar Articles Mail to Editor Cystic fibrosis in a boy with meconium ileus and mild clinical phenotype associated with 2183AA-G/D1152H genotype Abstract Similar Articles Mail to Editor HAX1 mutation in an infant with severe congenital neutropenia Abstract Similar Articles Mail to Editor The Clinical and Laboratory Manifestations of Iranian Patients with Cystic Fibrosis Abstract Similar Articles Mail to Editor Anti-neutrophil cytoplasmic antibodies (ANCA) in serum and bronchoalveolar lavage fluids of cystic fibrosis patients and patients with idiopathic bronchiectasis Abstract Similar Articles Mail to Editor Hypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family Abstract Similar Articles Mail to Editor A Rare Case of 2q37 Microdeletion with Albright Hereditary Osteodystrophy-Like Phenotype Abstract Similar Articles Mail to Editor Two Cases of LEOPARD Syndrome – RAF1 Mutations Firstly Described in Children Abstract Similar Articles Mail to Editor Sweat Conductivity Test: Can It Replace Chloride Titration for Cystic Fibrosis Diagnosis? Abstract Similar Articles Mail to Editor Joubert Syndrome: Report of 11 Cases Abstract Similar Articles Mail to Editor The Role of Serum Pseudomonas aeruginosa Antibodies in the Diagnosis and Follow-Up of Cystic Fibrosis Abstract Similar Articles Mail to Editor A Novel OCRL1 Gene Mutation in a Turkish Child with Lowe Syndrome Abstract Similar Articles Mail to Editor Selective Proximal Renal Tubular Involvement and Dyslipidemia in Two Cousins with Oculocerebrorenal Syndrome of Lowe Abstract Similar Articles Mail to Editor Effect of Supplementary Zinc on Body Mass Index, Pulmonary Function and Hospitalization in Children with Cystic Fibrosis Abstract Similar Articles Mail to Editor Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4) Abstract Similar Articles Mail to Editor Relation between microalbuminuria and gene mutations in familial Mediterranean fever 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 Association between genotype, clinical presentation, and severity of congenital adrenal hyperplasia: a review Abstract Similar Articles Mail to Editor The effect of probiotics on fecal calprotectin in patients with cystic fibrosis Abstract Similar Articles Mail to Editor Chronic kidney disease in an adolescent with hyperuricemia: familial juvenile hyperuricemic nephropathy Abstract Similar Articles Mail to Editor Polymorphisms in FAS and CASP8 Genes May Contribute to the Development of ALPS Phenotype: a Study in 25 Patients with Probable ALPS Abstract Similar Articles Mail to Editor Chanarin–Dorfman Syndrome: A Novel Mutation in a Turkish Girl Abstract Similar Articles Mail to Editor Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey Abstract Similar Articles Mail to Editor “Silent” β-thalassemia mutation (promoter nt-101 C > T) with increased hemoglobin A2 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 Long term azithromycin therapy in patients with cystic fibrosis Abstract Similar Articles Mail to Editor Diagnosis of cystic fibrosis with chloride meter (Sherwood M926S chloride analyzer®) and sweat test analysis system (CFΔ collection system®) compared to the Gibson Cooke method Abstract Similar Articles Mail to Editor Changing epidemiology of non-cystic fibrosis bronchiectasis Abstract Similar Articles Mail to Editor Familial mutation in Caffey disease with reduced penetrance: A case report Abstract Similar Articles Mail to Editor A Turkish BCS1L mutation causes GRACILE-like disorder Abstract Similar Articles Mail to Editor Normal sweat chloride test does not rule out cystic fibrosis Abstract Similar Articles Mail to Editor p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency Abstract Similar Articles Mail to Editor Conventional insulin pump therapy in two neonatal diabetes patients harboring the homozygous PTF1A enhancer mutation: Need for a novel approach for the management of neonatal diabetes Abstract Similar Articles Mail to Editor Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis Abstract Similar Articles Mail to Editor Child with RET proto-oncogene codon 634 mutation Abstract Similar Articles Mail to Editor A Fanconi-Bickel syndrome patient with a novel mutation and accompanying situs inversus totalis Abstract Similar Articles Mail to Editor Clinical and molecular evaluation of 16 patients with Rett syndrome Abstract Similar Articles Mail to Editor Psychiatric morbidity and quality of life in children and adolescents with cystic fibrosis Abstract Similar Articles Mail to Editor GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyria Abstract Similar Articles Mail to Editor A novel Y160C mutation of Keratin 10 gene in a Chinese male infant with epidermolytic hyperkeratosis Abstract Similar Articles Mail to Editor Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome Abstract Similar Articles Mail to Editor Investigation of antiviral resistance and escape mutations in children with naive chronic hepatitis B patients and their parents Abstract Similar Articles Mail to Editor A novel mutation of interleukin-1 receptor antagonist (IL1RN) in a DIRA patient from Turkey: Diagnosis and treatment Abstract Similar Articles Mail to Editor Meconium periorchitis: An incidentally diagnosed rare entity during inguinal herniorraphy Abstract Similar Articles Mail to Editor A patient heterozygous for R92Q mutation with periodic fever and aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome-like phenotype Abstract Similar Articles Mail to Editor Nasal nitric oxide levels in primary ciliary dyskinesia, cystic fibrosis and healthy children Abstract Similar Articles Mail to Editor A rare clinical association: Barth syndrome and cystic fibrosis Abstract Similar Articles Mail to Editor Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations Abstract Similar Articles Mail to Editor A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome Abstract Similar Articles Mail to Editor A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome Abstract Similar Articles Mail to Editor A novel de novo KCNQ2 mutation in a child with treatmentresistant early-onset epileptic encephalopathy Abstract Similar Articles Mail to Editor Two years of newborn screening for cystic fibrosis in Turkey: Çukurova experience Abstract Similar Articles Mail to Editor Unusual and early onset IPEX syndrome: a case report Abstract Similar Articles Mail to Editor Long-term follow-up results of patients with ADCK4 mutations who have been diagnosed in the asymptomatic period: effects of early initiation of CoQ10 supplementation Abstract Similar Articles Mail to Editor A rare cause of epileptic encephalopathy: a beta-propeller protein associated neurodegeneration case with a new mutation and literature review Abstract Similar Articles Mail to Editor Novel mutation and severe respiratory failure in congenital disorders of glycosylation Type Ix Abstract Similar Articles Mail to Editor A rare cause of epileptic encephalopathy: a beta-propeller protein associated neurodegeneration case with a new mutation and literature review Abstract Similar Articles Mail to Editor A rare case of syndromic severe congenital neutropenia: JAGN1 mutation Abstract Similar Articles Mail to Editor Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay Abstract Similar Articles Mail to Editor Diverse clinical characteristics of Aspergillus growth in patients with cystic fibrosis Abstract Similar Articles Mail to Editor Two patients with glutaric aciduria type 3: a novel mutation and brain magnetic resonance imaging findings Abstract Similar Articles Mail to Editor Giant ethmoidal mucocele leading to proptosis and hypertelorism in a pediatric patient with cystic fibrosis: a case report Abstract Similar Articles Mail to Editor SCN1A mutation spectrum in a cohort of Bulgarian patients with GEFS+ phenotype Abstract Similar Articles Mail to Editor Burkholderia cepacia complex bacteremia outbreaks among non-cystic fibrosis patients in the pediatric unit of a university hospital Abstract Similar Articles Mail to Editor Neonatal diabetes mellitus due to a new KCNJ11 mutation - 10 years of the patient`s follow-up Abstract Similar Articles Mail to Editor Cancer and constitutional Mismatch Repair Deficiency syndrome due to homozygous MSH 6 mutation in children with Café au Lait Spots and review of literature Abstract Similar Articles Mail to Editor Evaluation of nutritional status and related factors in children with cystic fibrosis Abstract Similar Articles Mail to Editor Identification of candidate genes in a family with cancer overload by whole-exome sequencing Abstract Similar Articles Mail to Editor Is there a role of viral infection in cystic fibrosis exacerbation in children? Abstract Similar Articles Mail to Editor Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene Abstract Similar Articles Mail to Editor A pediatric bithalamic high grade glioma with concomitant H3K27M and EGFR mutations Abstract Similar Articles Mail to Editor Sirolimus treatment of a PTEN hamartoma tumor syndrome presenting with melena Abstract Similar Articles Mail to Editor Phenotypic and genotypic characteristics of children with Bartter syndrome Abstract Similar Articles Mail to Editor Clinical findings of methicillin-resistant Staphylococcus aureus in cystic fibrosis Abstract Similar Articles Mail to Editor The coexistence of two rare diseases thought to use the same pathologic pathway: cystic fibrosis and Niemann-Pick disease Abstract Similar Articles Mail to Editor Expanding the clinical and molecular features of trichorhino- phalangeal syndrome with a novel variant Abstract Similar Articles Mail to Editor Clinical characteristics of patients requiring lung transplantation referral in national cystic fibrosis registry data Abstract Similar Articles Mail to Editor The first case of combined oxidative phosphorylation deficiency-1 due to a GFM1 mutation in the Serbian population: a case report and literature review Abstract Similar Articles Mail to Editor
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