Published in J Drug Educ on January 01, 2004
Distance education for tobacco reduction with Inuit frontline health workers. Int J Circumpolar Health (2013) 0.75
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. Nat Genet (2005) 2.83
A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. Am J Hum Genet (2005) 1.95
Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency. J Clin Endocrinol Metab (2009) 1.68
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain (2007) 1.35
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood. Hum Mutat (2010) 1.34
Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients. Brain (2007) 1.25
Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients. Hum Mutat (2012) 1.23
Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype. Diabetes Care (2011) 1.19
Morphologic and immunophenotypic properties of neoplastic cells in a case of mast cell sarcoma. Am J Surg Pathol (2003) 1.14
Inherited ACTH insensitivity illuminates the mechanisms of ACTH action. Trends Endocrinol Metab (2005) 1.13
Development of an abstract category representation for the spatial relation between in 6- to 10-month-old infants. Dev Psychol (2003) 1.11
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
Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus. J Neurol Sci (2010) 0.95
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
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
Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant. Pediatr Nephrol (2004) 0.89
Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H. Hum Mutat (2009) 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
Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase. Neuromuscul Disord (2003) 0.85
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
Variable reduction of caveolin-3 in patients with LGMD2B/MM. J Neurol (2003) 0.84
Late-onset triple A syndrome: a risk of overlooked or delayed diagnosis and management. Horm Res (2008) 0.84
Triple A syndrome: 32 years experience of a single centre (1977-2008). Eur J Pediatr (2010) 0.83
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
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
Clinical and molecular genetic findings in a 6-year-old Bosnian boy with triple A syndrome. Eur J Pediatr (2008) 0.78
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
Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy. Eur J Pediatr (2010) 0.77
Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe. Eur J Hum Genet (2008) 0.77
Factors associated with former smokers among female adolescents in rural Virginia. Addict Behav (2005) 0.76
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
Genetic separation of the human lacritin gene ("LACRT") and triple A (Allgrove) syndrome on 12q13. Adv Exp Med Biol (2002) 0.76
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
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
Editorial note: a new section on professional development and greater access to journal content. J Marital Fam Ther (2013) 0.75
Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty. J Pediatr Endocrinol Metab (2015) 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
Novel Mutations in a Patient with Triple A Syndrome. Indian Pediatr (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
New ophthalmic features in a family with triple A syndrome. Int Ophthalmol (2011) 0.75
Youths as partners in a community participatory project for substance use prevention. Fam Community Health (2014) 0.75
Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes. Clin Endocrinol (Oxf) (2007) 0.75