Published in Pediatr Dermatol on June 11, 2010
Granuloma annulare, autoimmune thyroiditis, and lichen sclerosus in a woman: randomness or significant association? Case Rep Dermatol Med (2013) 0.81
The skin landscape in diabetes mellitus. Focus on dermocosmetic management. Clin Cosmet Investig Dermatol (2013) 0.77
Granuloma annulare and necrobiosis lipoidica with sequential occurrence in a patient: report and review of literature. Dermatol Pract Concept (2015) 0.75
Granuloma annulare: relationship to diabetes mellitus, thyroid disorders and tuberculin skin test. Clin Cosmet Investig Dermatol (2017) 0.75
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res (2013) 5.66
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet (2006) 4.23
Randomised controlled study of early pulsed dye laser treatment of uncomplicated childhood haemangiomas: results of a 1-year analysis. Lancet (2002) 3.07
The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia. Nat Genet (2006) 2.81
Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. J Clin Invest (2006) 2.27
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet (2005) 1.97
Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome. J Invest Dermatol (2004) 1.95
Deletion of the SLUG (SNAI2) gene results in human piebaldism. Am J Med Genet A (2003) 1.72
Roles of GPR41 and GPR43 in leptin secretory responses of murine adipocytes to short chain fatty acids. FEBS Lett (2010) 1.65
Revertant mosaicism in Kindler syndrome. J Invest Dermatol (2011) 1.47
Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa. Acta Derm Venereol (2011) 1.46
Trichoepithelioma, not Basal cell carcinoma, in an 8-year-old child. Pediatr Dermatol (2013) 1.32
Two new XPD patients compound heterozygous for the same mutation demonstrate diverse clinical features. J Invest Dermatol (2005) 1.21
Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases. Arch Dermatol (2011) 1.18
A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene. Am J Hum Genet (2008) 1.16
Phenotypic variability in 17beta-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls. Clin Endocrinol (Oxf) (2007) 1.00
Impact of disordered puberty on bone density in beta-thalassaemia major. Br J Haematol (2003) 0.96
Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis. Hum Mutat (2006) 0.95
Septo-optic dysplasia: antenatal risk factors and clinical features in a regional study. Horm Res Paediatr (2012) 0.93
Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotype. Neuromuscul Disord (2013) 0.89
Maternal undernutrition programs tissue-specific epigenetic changes in the glucocorticoid receptor in adult offspring. Endocrinology (2013) 0.86
Reductions in basal metabolic rate and physical activity contribute to hypothalamic obesity. J Clin Endocrinol Metab (2008) 0.86
Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1. J Invest Dermatol (2005) 0.86
A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. J Invest Dermatol (2004) 0.85
Hyperleptinaemia rather than fasting hyperinsulinaemia is associated with obesity following hypothalamic damage in children. Eur J Endocrinol (2008) 0.80
Macrocephaly-cutis marmorata telangiectatica congenita: A case report and review of salient features. J Am Acad Dermatol (2008) 0.80
Multiple cerebral abscesses in Papillon-Lefèvre syndrome. Childs Nerv Syst (2013) 0.80
End-stage renal failure in adolescence with Sjögren's syndrome autoantibodies SSA and SSB. Pediatr Nephrol (2007) 0.78
Australian general practice and pandemic influenza: models of clinical practice in an established pandemic. Med J Aust (2007) 0.78
EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation? Am J Med Genet A (2007) 0.78
Two families with Greither's syndrome caused by a keratin 1 mutation. J Am Acad Dermatol (2005) 0.78
Clinical characteristics and management of cranial diabetes insipidus in infants. J Pediatr Endocrinol Metab (2013) 0.78
The relationship between bone mass and body composition in children with hypothalamic and simple obesity. Clin Endocrinol (Oxf) (2013) 0.78
Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases. J Invest Dermatol (2012) 0.78
Diarrhea associated with propranolol treatment for hemangioma of infancy (HOI). Pediatr Dermatol (2010) 0.78
Abnormal growth in noonan syndrome: the challenge of optimal therapy. Pediatr Endocrinol Rev (2009) 0.77
Acute fatty liver disease after suprasellar tumor resection. J Pediatr Gastroenterol Nutr (2004) 0.77
An association of craniopharyngioma in Turner syndrome. Pediatr Blood Cancer (2012) 0.77
Informing patients about tardive dyskinesia: A survey of clinicians' attitudes in three countries. Int J Law Psychiatry (2004) 0.76
Even easier griseofulvin dosing--why not weigh children in kilograms? Pediatr Dermatol (2009) 0.75
Dilated cardiomyopathy in epidermolysis bullosa: a retrospective, multicenter study-response. Pediatr Dermatol (2010) 0.75
Cutaneous telangiectasia and cauda equina syndrome: a presentation of diffuse large B-cell lymphoma. Am J Dermatopathol (2013) 0.75
Meeting the needs of four generations of nurses. Nurs Times (2016) 0.75
Use of a novel laparoscopic gastrostomy technique in children with severe epidermolysis bullosa. J Pediatr Gastroenterol Nutr (2014) 0.75
Thyroxine: cause and cure for headache. Acta Paediatr (2006) 0.75
Co-expression of protein phosphatases in insect cells affects phosphorylation status and expression levels of proteins. Protein Expr Purif (2012) 0.75
Epidermolysis bullosa pruriginosa: a case with prominent histopathologic inflammation. JAMA Dermatol (2013) 0.75
Hereditary vitamin D-resistant rickets presenting as alopecia. Pediatr Dermatol (2014) 0.75