Published in Eur J Pediatr on May 30, 2012
Disorders of sex development: effect of molecular diagnostics. Nat Rev Endocrinol (2015) 0.90
45,X mosaicism in northeast China: a clinical report and review of the literature. J Assist Reprod Genet (2013) 0.76
Disorders of sexual differentiation: I. Genetics and pathology. Arab J Urol (2013) 0.75
A Newborn with Genital Ambiguity, 45,X/46,XY Mosaicism, a Jumping Chromosome Y, and Congenital Adrenal Hyperplasia. Case Rep Endocrinol (2013) 0.75
Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics (2006) 4.40
Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr Rev (1995) 4.22
Changing the nomenclature/taxonomy for intersex: a scientific and clinical rationale. J Pediatr Endocrinol Metab (2005) 2.05
Disorders of sex differentiation: a pediatric urologist's perspective of new terminology and recommendations. J Urol (2010) 1.58
The phenotype of 45,X/46,XY mosaicism: an analysis of 92 prenatally diagnosed cases. Am J Hum Genet (1990) 1.35
45,X/46,XY mosaicism: report of 27 cases. Pediatrics (1999) 1.32
The role of a clinical score in the assessment of ambiguous genitalia. BJU Int (2000) 1.08
A clinical and cytogenetic study of fifteen patients with 45,X/46XY gonadal dysgenesis. Fertil Steril (1980) 1.04
Early manifestations of testicular dysgenesis in children: pathological phenotypes, karyotype correlations and precursor stages of tumour development. APMIS (2003) 0.94
Psychosocial and psychosexual aspects of disorders of sex development. Best Pract Res Clin Endocrinol Metab (2010) 0.92
45,X/46,XY mosaicism. A clinical review and report of ten cases. Eur J Pediatr (1987) 0.91
Mixed gonadal dysgenesis and dysgenetic male pseudohermaphroditism--a critical analysis. Indian J Pediatr (1992) 0.89
Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases. Hum Genet (2002) 0.88
Gender identity reversal in an adolescent with mixed gonadal dysgenesis. J Pediatr Endocrinol Metab (2000) 0.87
True hermaphroditism and mixed gonadal dysgenesis in young children: a clinicopathologic study of 10 cases. Mod Pathol (2002) 0.86
Phenotypic spectrum of 45,X/46,XY males with a ring Y chromosome and bilaterally descended testes. Fertil Steril (2008) 0.84
Etiological classification and clinical assessment of children and adolescents with disorders of sex development. J Clin Res Pediatr Endocrinol (2011) 0.83
Children with 45,X/46,XY karyotype from birth to adult height. Horm Res Paediatr (2010) 0.83
High incidence of Y-chromosome microdeletions in gonadal tissues from patients with 45,X/46,XY gonadal dysgenesis. Fertil Steril (2007) 0.82
46,XY and 45,X/46,XY testicular dysgenesis: similar gonadal and genital phenotype, different prognosis. Arq Bras Endocrinol Metabol (2010) 0.79
Factors contributing to sex assignment and reassignment decisions in Turkish children with 46,XY disorders of sex development. J Pediatr Endocrinol Metab (2007) 0.79
Disorders of gonadal development: a broad clinical, cytogenetic and histopathologic spectrum. Pediatr Endocrinol Rev (2007) 0.78
Limitations of G-banding Karyotype Analysis with Peripheral Lymphocytes in Diagnosing Mixed Gonadal Dysgenesis. Clin Pediatr Endocrinol (2006) 0.78
Consensus statement on terminology and management: disorders of sex development. Sex Dev (2008) 0.78
Terminology for disorders of sex development: clarity or confusion? J Urol (2010) 0.77
Disorders of sexual development: an overview of 18 years experience in the pediatric Endocrinology Department of Ankara University. J Pediatr Endocrinol Metab (2010) 0.77
Gender dysphoria and gender change in an adolescent with 45,X/46,XY mixed gonadal dysgenesis. Exp Clin Endocrinol Diabetes (2008) 0.76
Medical and psychosexual outcome in women affected by complete gonadal dysgenesis. J Pediatr Endocrinol Metab (2006) 0.76
Screening for mutations in the SRY gene in patients with mixed gonadal dysgenesis or with Turner syndrome and Y mosaicism. Eur J Obstet Gynecol Reprod Biol (2004) 0.75
[Diagnosis and management of 46,XY mixed gonadal dysgenesis and disorder of sexual differentiation]. Medicina (Kaunas) (2009) 0.75
Ambiguous genitalia in a newborn with 45,X/46,X,idic(Y) ovotesticular disorder of sex development. Endocr Pract (2010) 0.75
Mixed gonadal dysgenesis in a 45,X neonate with chromosome Y material in the dysgenetic gonad. J Pediatr Endocrinol Metab (2009) 0.75
Functional ovarian hyperandrogenism and polycystic ovary syndrome in prepubertal girls with obesity and/or premature pubarche. J Pediatr Endocrinol Metab (2007) 1.43
Pathophysiology of critical illness hyperglycemia in children. J Pediatr Endocrinol Metab (2013) 1.39
Unusual cause of respiratory distress: Chilaiditi syndrome. Pediatr Int (2004) 1.26
ROHHAD Syndrome: Reasons for Diagnostic Difficulties in Obesity. J Clin Res Pediatr Endocrinol (2014) 1.10
Vitamin D deficiency in Turkish mothers and their neonates and in women of reproductive age. J Clin Res Pediatr Endocrinol (2009) 1.08
Neonatal suppurative submandibular sialadenitis. Turk J Pediatr (2009) 1.07
Syndromic disorders with short stature. J Clin Res Pediatr Endocrinol (2014) 0.99
Behçet's disease with right ventricle thrombus and bilateral pulmonary artery aneurysms--a case report. Angiology (2004) 0.99
The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype. Am J Med Genet A (2004) 0.95
Is telomere length one of the determinants of reproductive life span? Arch Gynecol Obstet (2005) 0.92
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
Serum IGF-1 and IGFBP-3 levels in healthy children between 0 and 6 years of age. J Clin Res Pediatr Endocrinol (2011) 0.90
Hashimoto encephalopathy causing drug-resistant status epilepticus treated with plasmapheresis. Pediatr Neurol (2012) 0.89
Translocation (13;17)(q14;q25) as a novel chromosomal abnormality in acute myeloid leukemia-M4. Leuk Res (2006) 0.88
Acute neonatal suppurative parotitis: a case report and review of the literature. Int J Infect Dis (2011) 0.88
Relationships between osteocalcin, glucose metabolism, and adiponectin in obese children: Is there crosstalk between bone tissue and glucose metabolism? J Clin Res Pediatr Endocrinol (2012) 0.87
Gonadal malignancy risk and prophylactic gonadectomy in disorders of sexual development. J Pediatr Endocrinol Metab (2015) 0.87
DNA copy number changes in gastric adenocarcinomas: high resolution-comparative genomic hybridization study in Turkey. Arch Med Res (2009) 0.87
Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism. J Clin Res Pediatr Endocrinol (2012) 0.87
The influence of interferon-alpha and combination interferon-alpha and lamivudine therapy on height and weight in children with chronic hepatitis B infection. J Pediatr Endocrinol Metab (2007) 0.87
An unusual case of neurobrucellosis presenting as demyelination disorder. Turk J Pediatr (2013) 0.86
En-bloc stapling of the splenic hilum in laparoscopic splenectomy. Minim Invasive Ther Allied Technol (2007) 0.84
Common fragile sites associated with the breakpoints of chromosomal aberrations in hematologic neoplasms. Cancer Genet Cytogenet (2002) 0.84
Cardiovascular findings in a boy with arterial tortuosity syndrome: case report and review of the literature. Turk J Pediatr (2011) 0.84
Celiac disease and autoimmune thyroid disease in children with type 1 diabetes mellitus: clinical and HLA-genotyping results. J Clin Res Pediatr Endocrinol (2010) 0.83
Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study. Endocrine (2014) 0.83
Evaluation of hypercoagulability in obese children with thrombin generation test and microparticle release: effect of metabolic parameters. Clin Appl Thromb Hemost (2011) 0.82
The Frequency of A1298C and C677T Polymorphisms of the Methylentetrahydrofolate Gene in Turkish Patients with Rheumatoid Arthritis: Relationship with Methotrexate Toxicity. Open Rheumatol J (2011) 0.82
Infertility in a man with oligoasthenoteratozoospermia associated with nonrobertsonian translocation t(9;15)(p10;q10). Fertil Steril (2006) 0.82
Effects on bone mineral density of gonadotropin releasing hormone analogs used in the treatment of central precocious puberty. J Pediatr Endocrinol Metab (2003) 0.82
Transient neonatal diabetes with two novel mutations in the KCNJ11 gene and response to sulfonylurea treatment in a preterm infant. J Pediatr Endocrinol Metab (2011) 0.81
Clinical characteristics of recessive and dominant congenital hyperinsulinism due to mutation(s) in the ABCC8/KCNJ11 genes encoding the ATP-sensitive potasium channel in the pancreatic beta cell. J Pediatr Endocrinol Metab (2011) 0.81
Exaggerated TSH responses to TRH in patients with goiter and 'normal' basal TSH levels. Horm Res (2005) 0.81
Endothelial nitric oxide synthase gene polymorphism in gastric cancer. Turk J Gastroenterol (2010) 0.81
Coexistence of Hodgkin lymphoma and cyst hydatic disease of the liver. Pediatr Hematol Oncol (2004) 0.80
[Biopsychosocial variables associated with gender of rearing in children with male pseudohermaphroditism]. Turk Psikiyatri Derg (2007) 0.80
Evaluation and outcome of antenatal hydronephrosis: a prospective study. Ren Fail (2012) 0.80
The exon 3-deleted/full-length growth hormone receptor polymorphism and response to growth hormone therapy in growth hormone deficiency and Turner syndrome: a multicenter study. Horm Res Paediatr (2012) 0.80
Nutcracker syndrome with urolithiasis. J Pediatr Urol (2010) 0.80
Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene. Eur J Paediatr Neurol (2007) 0.80
Current practice in diagnosis and treatment of growth hormone deficiency in childhood: a survey from Turkey. J Clin Res Pediatr Endocrinol (2015) 0.80
Long-term follow-up of a pseudohypoparathyroidism type 1A patient with missense mutation (Pro115Ser) in exon 5. J Clin Res Pediatr Endocrinol (2010) 0.79
Does long-term use of valproate cause weight gain in prepubertal epileptic children? Int J Neurosci (2002) 0.79
Evaluation of thyroid functions with respect to iodine status and TRH test in chronic autoimmune thyroiditis. J Clin Res Pediatr Endocrinol (2011) 0.79
Gastric carcinoid tumor in a 14-year old girl. Scand J Gastroenterol (2014) 0.79
ACE gene deletion/deletion polymorphism may be a protective factor for respiratory distress in preterm infants. Turk J Pediatr (2007) 0.79
Gonadotropin-Releasing Hormone Analogue Treatment in Females with Moderately Early Puberty: No Effect on Final Height. J Clin Res Pediatr Endocrinol (2015) 0.79
The effect of colchicine on physical growth in children with familial mediterranean fever. Eur J Pediatr (2009) 0.78
Transverse testicular ectopia associated with persistent Müllerian duct syndrome: another entity in which magnetic resonance imaging is unreliable. Urology (2010) 0.78
Hyperinsulinemic hypoglycemia: experience in a series of 17 cases. J Clin Res Pediatr Endocrinol (2013) 0.78
Disorders of gonadal development: a broad clinical, cytogenetic and histopathologic spectrum. Pediatr Endocrinol Rev (2007) 0.78
Nutcracker syndrome manifesting with severe proteinuria: a challenging scenario in a single-kidney patient. Pediatr Nephrol (2011) 0.78
A child with myelodysplastic syndrome with hypocellular fibrosis. J Pediatr Hematol Oncol (2010) 0.78
Late neonatal hypocalcemic tetany as a manifestation of unrecognized maternal primary hyperparathyroidism. Turk J Pediatr (2013) 0.78
Chronic eosinophilic leukemia with monosomy 8 in a five-year-old girl: a rare case. Turk J Pediatr (2015) 0.78
Encapsulating peritoneal sclerosis in paediatric peritoneal dialysis patients. Nephrology (Carlton) (2005) 0.78
Evaluation of glucose homeostasis in transfusion-dependent thalassemic patients. Pediatr Hematol Oncol (2008) 0.78
Relationship between plasma leptin, insulin and tumor necrosis factor alpha in obese children. J Pediatr Endocrinol Metab (2005) 0.77
Metastatic lung cancer: presenting with ocular symptoms. Tuberk Toraks (2005) 0.77
A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course. J Clin Res Pediatr Endocrinol (2015) 0.77
Serum leptin levels in children receiving long-term carbamazepine. Acta Paediatr Taiwan (2003) 0.77
Systemic vascular calcification with retinal calcification in an adolescent treated with long-term peritoneal dialysis. Pediatr Nephrol (2006) 0.77
Hypocalcemic seizure due to congenital rickets in the first day of life. Turk J Pediatr (2007) 0.77
Two siblings with isolated GH deficiency due to loss-of-function mutation in the GHRHR gene: successful treatment with growth hormone despite late admission and severe growth retardation. J Clin Res Pediatr Endocrinol (2010) 0.77
Effects of genomic imbalances on telomerase activity in gastric cancer: clues to telomerase regulation. Oncol Res (2009) 0.77
Evaluation of insulin resistance in Turkish girls with premature pubarche using the homeostasis assessment (HOMA) model. Turk J Pediatr (2007) 0.76
Case report: two patients with partial DiGeorge syndrome presenting with attention disorder and learning difficulties. J Clin Res Pediatr Endocrinol (2011) 0.76
Magnetic resonance angiographic and three-dimensional computerized tomographic identification of scimitar syndrome in an 8-month-old infant. Turk J Pediatr (2005) 0.76
TBX1 gene mutation screening in patients with non-syndromic Fallot tetralogy. Turk J Pediatr (2007) 0.76
Permanent central diabetes insipidus with complete regression of pituitary stalk enlargement after 4 years of follow-up. J Clin Res Pediatr Endocrinol (2008) 0.75
Recurrent Kawasaki disease in a child with retropharyngeal involvement: a case report and literature review. Medicine (Baltimore) (2014) 0.75
Regulatory T Cells and Vitamin D Status in Children with Chronic Autoimmune Thyroiditis. J Clin Res Pediatr Endocrinol (2016) 0.75
Renal involvement in childhood vasculitis. Nephron Clin Pract (2008) 0.75
Synchronous occurrence of papillary carcinoma in the thyroid gland and thyroglossal duct in an adolescent with congenital hypothyroidism. J Clin Res Pediatr Endocrinol (2012) 0.75
Evaluation of permanent growth hormone deficiency (GHD) in young adults with childhood onset GHD: a multicenter study. J Clin Res Pediatr Endocrinol (2008) 0.75
Comment on evaluation of neonates with esophageal atresia using chest CT scan. Pediatr Surg Int (2005) 0.75
Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3. J Clin Res Pediatr Endocrinol (2012) 0.75
Genoa syndrome and central diabetes insipidus: a case report. J Clin Res Pediatr Endocrinol (2010) 0.75
Association Between N363S and BclI Polymorphisms of the Glucocorticoid Receptor Gene (NR3C1) and Glucocorticoid Side Effects During Childhood Acute Lymphoblastic Leukemia Treatment. Turk J Haematol (2017) 0.75
Efficiency of fluid treatments with different sodium concentration in children with type 1 diabetic ketoacidosis. J Clin Res Pediatr Endocrinol (2011) 0.75
The Growth Characteristics of Patients with Noonan Syndrome: Results of Three Years of Growth Hormone Treatment: A Nationwide Multicenter Study. J Clin Res Pediatr Endocrinol (2016) 0.75
Investigation of SHOX Gene Mutations in Turkish Patients with Idiopathic Short Stature. J Clin Res Pediatr Endocrinol (2015) 0.75