Published in Eur J Pediatr on June 13, 2008
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High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis. Eur J Endocrinol (2007) 1.14
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Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome. Mol Cell Biol (2006) 0.99
Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism. Mol Endocrinol (2009) 0.96
Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation. Orphanet J Rare Dis (2013) 0.96
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Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome. Eur J Pediatr (2012) 0.94
The pathomechanism of filaminopathy: altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy. Hum Mol Genet (2007) 0.92
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Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities. Muscle Nerve (2007) 0.90
Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures. Hum Mutat (2005) 0.90
CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn. Brain (2006) 0.90
Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity. Hum Genet (2002) 0.89
Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H. Hum Mutat (2009) 0.89
Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant. Pediatr Nephrol (2004) 0.89
A randomized, double-blind study to assess the efficacy and safety of valtropin, a biosimilar growth hormone, in children with growth hormone deficiency. Horm Res (2007) 0.89
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. Am J Hum Genet (2013) 0.88
Three siblings with triple A syndrome with a novel frameshift mutation in the AAAS gene and a review of 17 independent patients with the frequent p.Ser263Pro mutation. Eur J Pediatr (2008) 0.88
Chromosomal fragility in patients with triple A syndrome. Am J Med Genet A (2003) 0.88
Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy. Neuromuscul Disord (2011) 0.87
The nuclear pore complex protein ALADIN is anchored via NDC1 but not via POM121 and GP210 in the nuclear envelope. Biochem Biophys Res Commun (2009) 0.87
Transient neonatal diabetes mellitus in an infant with paternal uniparental disomy of chromosome 6 including heterodisomy for 6q24. J Pediatr Endocrinol Metab (2006) 0.85
Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase. Neuromuscul Disord (2003) 0.85
Biological effects of epicuticular flavonoids from Primula denticulata on human leukemia cells. J Agric Food Chem (2004) 0.84
Variable reduction of caveolin-3 in patients with LGMD2B/MM. J Neurol (2003) 0.84
CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease. J Clin Endocrinol Metab (2008) 0.84
Late-onset triple A syndrome: a risk of overlooked or delayed diagnosis and management. Horm Res (2008) 0.84
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A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome. Neuromuscul Disord (2004) 0.83
Triple A syndrome mimicking ALS. Amyotroph Lateral Scler (2008) 0.83
Intracellular ROS level is increased in fibroblasts of triple A syndrome patients. J Mol Med (Berl) (2010) 0.83
A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome. Horm Res (2006) 0.83
Tert expression and telomerase activity in gonads and somatic cells of the Japanese medaka (Oryzias latipes). Dev Growth Differ (2008) 0.82
Is there a difference in pregnancy and glycemic outcome in patients with type 1 diabetes on insulin pump with constant or intermittent glucose monitoring? A pilot study. Diabetes Technol Ther (2011) 0.82
Association of chronic symptomatic neutropenia with the triple A syndrome. J Pediatr Hematol Oncol (2005) 0.82
Triple A (Allgrove) syndrome: an unusual association with syringomyelia. Ital J Pediatr (2013) 0.79
Familial glucocorticoid deficiency type 1 due to a novel compound heterozygous MC2R mutation. Horm Res (2008) 0.79
Specific interactions of quercetin and other flavonoids with target proteins are revealed by elicited fluorescence. Biochem Biophys Res Commun (2004) 0.79
Progressive muscle atrophy with hypokalemic periodic paralysis and calcium channel mutation. Muscle Nerve (2008) 0.78
Three children with triple A syndrome due to a mutation (R478X) in the AAAS gene. Horm Res (2003) 0.78
Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe. Eur J Hum Genet (2008) 0.77
Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy. Eur J Pediatr (2010) 0.77
The triple "a" syndrome confirmed by molecular analysis: a case report of 7-year-old boy. J Pediatr Gastroenterol Nutr (2005) 0.76
Mutations in a novel gene, encoding a single transmembrane domain protein are associated with familial glucocorticoid deficiency type 2. Endocr Res (2004) 0.76
Metabolic syndrome in obese children and adolescents in Serbia: prevalence and risk factors. J Pediatr Endocrinol Metab (2015) 0.76
Female adolescent smoking: a Delphi study on best prevention practices. J Drug Educ (2004) 0.76
Genetic separation of the human lacritin gene ("LACRT") and triple A (Allgrove) syndrome on 12q13. Adv Exp Med Biol (2002) 0.76
Early Presentation of Hyperinsulinism/Hyperammonemia Syndrome in Three Serbian Patients. J Clin Res Pediatr Endocrinol (2015) 0.75
Triple A syndrome: two novel mutations in the AAAS gene. BMJ Case Rep (2009) 0.75
Mutations of the AAAS gene in an Indian family with Allgrove's syndrome. World J Gastroenterol (2006) 0.75
Diagnostics of common microdeletion syndromes using fluorescence in situ hybridization: single center experience in a developing country. Bosn J Basic Med Sci (2016) 0.75
Adrenal crisis provoked by dental infection: case report and review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod (2010) 0.75
Congenital hypothyroidism associated with neonatal tooth, Pierre-Robin syndrome and congenital heart defects. J Pediatr Endocrinol Metab (2009) 0.75
New ophthalmic features in a family with triple A syndrome. Int Ophthalmol (2011) 0.75
Novel Mutations in a Patient with Triple A Syndrome. Indian Pediatr (2015) 0.75
Comment on Publications from OpT2mise Study. Diabetes Technol Ther (2016) 0.75
Pre-operative differentiation of pediatric ovarian tumors: morphological scoring system and tumor markers. J Pediatr Endocrinol Metab (2006) 0.75
Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty. J Pediatr Endocrinol Metab (2015) 0.75
Effects of adolescence-onset hypogonadism on metabolism, bone mineral density and quality of life in adulthood. J Pediatr Endocrinol Metab (2015) 0.75
Transient neonatal hypothyroidism manifested at birth. J Pediatr Endocrinol Metab (2009) 0.75
Long-Term Outcomes, Genetics, and Pituitary Morphology in Patients with Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiencies: A Single-Centre Experience of Four Decades of Growth Hormone Replacement. Horm Res Paediatr (2016) 0.75
Limb girdle muscular dystrophy type 2I caused by a novel missense mutation in the FKRP gene presenting as acute virus-associated myositis in infancy. Eur J Pediatr (2005) 0.75
What Is the Optimal Target Convective Volume in On-Line Hemodiafiltration Therapy? Contrib Nephrol (2016) 0.75
Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes. Clin Endocrinol (Oxf) (2007) 0.75
Thyroid volume and urinary iodine excretion in schoolchildren in North-Eastern Bosnia. Eur J Pediatr (2004) 0.75
Postprandial hyperinsulinemic hypoglycemia in a child as a late complication of esophageal reconstruction. J Pediatr Endocrinol Metab (2017) 0.75
Health-related quality of life in children and adolescents with type 1 diabetes mellitus from Montenegro: relationship to metabolic control. J Pediatr Endocrinol Metab (2016) 0.75