Published in Pediatr Dermatol on March 04, 2010
A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1. Mol Vis (2013) 0.89
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A Case of Woolly Hair Nevus Associated with Pigmentary Demarcation Lines and Heterochromia Iridis: Coincidence or a New Association? Int J Trichology (2015) 0.75
Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family. Hum Genome Var (2017) 0.75
Lyme borreliosis. Lancet Infect Dis (2003) 4.58
CCL27-CCR10 interactions regulate T cell-mediated skin inflammation. Nat Med (2002) 4.02
Proapoptotic signaling induced by RIG-I and MDA-5 results in type I interferon-independent apoptosis in human melanoma cells. J Clin Invest (2009) 2.85
Adverse effects of topical glucocorticosteroids. J Am Acad Dermatol (2006) 2.80
Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics (2003) 2.66
NMDA receptor activation and respiratory chain complex V inhibition contribute to neurodegeneration in d-2-hydroxyglutaric aciduria. Eur J Neurosci (2002) 2.54
Hypertrophic scarring and keloids: pathomechanisms and current and emerging treatment strategies. Mol Med (2010) 2.51
IL-31: a new link between T cells and pruritus in atopic skin inflammation. J Allergy Clin Immunol (2006) 2.39
Comparison of HemoCue method with cyanmethemoglobin method for estimation of hemoglobin. Indian Pediatr (2002) 2.30
Cytokines and chemokines orchestrate atopic skin inflammation. J Allergy Clin Immunol (2006) 2.08
Fanconi syndrome caused by antiepileptic therapy with valproic Acid. Epilepsia (2004) 1.87
Fabry disease-often seen, rarely diagnosed. Dtsch Arztebl Int (2009) 1.85
Accumulation of apoptotic cells in the epidermis of patients with cutaneous lupus erythematosus after ultraviolet irradiation. Arthritis Rheum (2006) 1.83
Update on Kaposi's sarcoma and other HHV8 associated diseases. Part 1: epidemiology, environmental predispositions, clinical manifestations, and therapy. Lancet Infect Dis (2002) 1.80
Susceptibility variants for male-pattern baldness on chromosome 20p11. Nat Genet (2008) 1.80
Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease. Am J Hum Genet (2006) 1.78
Treatment of cutaneous leishmaniasis by photodynamic therapy. J Am Acad Dermatol (2003) 1.75
Cytosolic DNA triggers inflammasome activation in keratinocytes in psoriatic lesions. Sci Transl Med (2011) 1.74
Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. Brain (2009) 1.71
Efficacy and safety of tacrolimus ointment compared with that of hydrocortisone acetate ointment in children with atopic dermatitis. J Allergy Clin Immunol (2002) 1.71
Early clinical experiences with the new influenza A (H1N1/09). Dtsch Arztebl Int (2009) 1.65
Elimination of iodine deficiency disorders in Delhi. Indian J Pediatr (2004) 1.64
Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells. Am J Hum Genet (2007) 1.62
Prevalence of obesity amongst affluent adolescent school children in delhi. Indian Pediatr (2002) 1.60
Therapy for severe necrotizing vasculitis with infliximab. J Am Acad Dermatol (2004) 1.59
A comparison of oral methylprednisolone plus azathioprine or mycophenolate mofetil for the treatment of bullous pemphigoid. Arch Dermatol (2007) 1.59
Tumor immune escape by the loss of homeostatic chemokine expression. Proc Natl Acad Sci U S A (2007) 1.58
Epigenetic silencing of the PTEN gene in melanoma. Cancer Res (2006) 1.58
Pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH)--a new autoinflammatory syndrome distinct from PAPA syndrome. J Am Acad Dermatol (2011) 1.55
The mouse S100A15 ortholog parallels genomic organization, structure, gene expression, and protein-processing pattern of the human S100A7/A15 subfamily during epidermal maturation. J Invest Dermatol (2006) 1.53
Frequent alterations of Ras signaling pathway genes in sporadic malignant melanomas. Int J Cancer (2004) 1.50
Loss of DNA mismatch repair proteins in skin tumors from patients with Muir-Torre syndrome and MSH2 or MLH1 germline mutations: establishment of immunohistochemical analysis as a screening test. Am J Surg Pathol (2002) 1.48
Pseudotumor cerebri as an important differential diagnosis of papilledema in children. Brain Dev (2005) 1.46
Rituximab as a highly effective treatment in a female adolescent with severe multiple sclerosis. Dev Med Child Neurol (2009) 1.42
Baby-walkers: an avoidable source of hazard. Lancet (2008) 1.41
Management of diabetes mellitus in infants. Nat Rev Endocrinol (2011) 1.40
"Borrelia-associated early-onset morphea": a particular type of scleroderma in childhood and adolescence with high titer antinuclear antibodies? Results of a cohort analysis and presentation of three cases. J Am Acad Dermatol (2008) 1.40
Lupus erythematosus tumidus in childhood. Report of 3 patients. Dermatology (2003) 1.40
Crossed cerebellar diaschisis after status epilepticus in a young child. Neuropediatrics (2012) 1.40
Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels. Pediatrics (2006) 1.38
Hunter disease before and during enzyme replacement therapy. Pediatr Neurol (2011) 1.38
CCL1-CCR8 interactions: an axis mediating the recruitment of T cells and Langerhans-type dendritic cells to sites of atopic skin inflammation. J Immunol (2005) 1.37
Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia. Am J Hum Genet (2005) 1.35
Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release. Diabetes (2003) 1.33
Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry. J Pediatr (2006) 1.33
Prevalence of multiple micronutrient deficiencies amongst pregnant women in a rural area of Haryana. Indian J Pediatr (2004) 1.32
A guide to diagnosis and treatment of Leigh syndrome. J Neurol Neurosurg Psychiatry (2013) 1.31
Update on Kaposi's sarcoma and other HHV8 associated diseases. Part 2: pathogenesis, Castleman's disease, and pleural effusion lymphoma. Lancet Infect Dis (2002) 1.31
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. Nat Genet (2009) 1.31
IL-17A enhances vitamin D3-induced expression of cathelicidin antimicrobial peptide in human keratinocytes. J Immunol (2008) 1.31
Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity. J Biol Chem (2002) 1.27
Iodine status and goiter prevalence after 40 years of salt iodisation in the Kangra District, India. Indian J Pediatr (2007) 1.25
Ultraviolet radiation-induced injury, chemokines, and leukocyte recruitment: An amplification cycle triggering cutaneous lupus erythematosus. Arthritis Rheum (2005) 1.24
Arginase 1 overexpression in psoriasis: limitation of inducible nitric oxide synthase activity as a molecular mechanism for keratinocyte hyperproliferation. Am J Pathol (2003) 1.23
Crosstalk between keratinocytes and adaptive immune cells in an IkappaBalpha protein-mediated inflammatory disease of the skin. Immunity (2007) 1.21
The Munich outbreak of cutaneous cowpox infection: transmission by infected pet rats. Acta Derm Venereol (2012) 1.21
Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. Int J Cancer (2005) 1.20
Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype. Diabetes Care (2011) 1.19
Efficacy and safety of tacrolimus ointment compared with that of hydrocortisone butyrate ointment in adult patients with atopic dermatitis. J Allergy Clin Immunol (2002) 1.18
Histopathologic findings in lupus erythematosus tumidus: review of 80 patients. J Am Acad Dermatol (2003) 1.18
Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany. Pediatr Res (2007) 1.18
CC chemokine ligand 18, an atopic dermatitis-associated and dendritic cell-derived chemokine, is regulated by staphylococcal products and allergen exposure. J Immunol (2004) 1.18
Vitamin D analogs differentially control antimicrobial peptide/"alarmin" expression in psoriasis. PLoS One (2009) 1.17
Nestin and SOX9 and SOX10 transcription factors are coexpressed in melanoma. Exp Dermatol (2010) 1.14
Epigenetic inactivation of tumor suppressor genes in serum of patients with cutaneous melanoma. J Invest Dermatol (2006) 1.13
Long-term follow-up of 114 patients with congenital hyperinsulinism. Eur J Endocrinol (2003) 1.12
Molecular genetic analysis of malignant melanomas for aberrations of the WNT signaling pathway genes CTNNB1, APC, ICAT and BTRC. Int J Cancer (2002) 1.11
Life cell quantification of mitochondrial membrane potential at the single organelle level. Cytometry A (2008) 1.09
Characterisation and functional properties of watermelon (Citrullus lanatus) seed proteins. J Sci Food Agric (2010) 1.09
Prevalence of iron, vitamin A, and iodine deficiencies amongst adolescent pregnant mothers. Indian J Pediatr (2003) 1.09
beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. Hum Mol Genet (2004) 1.08
Genome-wide association study for colorectal cancer identifies risk polymorphisms in German familial cases and implicates MAPK signalling pathways in disease susceptibility. Carcinogenesis (2010) 1.08
S100A15, an antimicrobial protein of the skin: regulation by E. coli through Toll-like receptor 4. J Invest Dermatol (2007) 1.08
Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum. Pediatrics (2003) 1.07
Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. Hum Mol Genet (2004) 1.07
Chemokine receptors in head and neck cancer: association with metastatic spread and regulation during chemotherapy. Int J Cancer (2006) 1.07
Public, expert and patients' opinions on preimplantation genetic diagnosis (PGD) in Germany. Reprod Biomed Online (2005) 1.07
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. Nat Genet (2003) 1.07
Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC. J Inherit Metab Dis (2011) 1.06
Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. Am J Hum Genet (2012) 1.06
Rosacea - S1 guideline. J Dtsch Dermatol Ges (2013) 1.06
A comparison of oral methylprednisolone plus azathioprine or mycophenolate mofetil for the treatment of pemphigus. Arch Dermatol (2006) 1.06
Intolerance reactions due to the selective cyclooxygenase type II inhibitors rofecoxib and celecoxib. Results of oral provocation tests in patients with NSAID hypersensitivity. Acta Derm Venereol (2003) 1.05
Gene from a psoriasis susceptibility locus primes the skin for inflammation. Sci Transl Med (2010) 1.04
Palivizumab-resistant human respiratory syncytial virus infection in infancy. Clin Infect Dis (2010) 1.04
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. Orphanet J Rare Dis (2013) 1.04
Cathelicidin LL-37: an antimicrobial peptide with a role in inflammatory skin disease. Ann Dermatol (2012) 1.03
Down-regulation of the serotonin transporter in hyperreactive platelets counteracts the pro-thrombotic effect of serotonin. J Mol Cell Cardiol (2012) 1.01
Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice. Pediatr Res (2005) 1.01
Newborn screening for hepatorenal tyrosinemia: Tandem mass spectrometric quantification of succinylacetone. Clin Chem (2006) 1.01
Carnitine supplementation induces acylcarnitine production in tissues of very long-chain acyl-CoA dehydrogenase-deficient mice, without replenishing low free carnitine. Pediatr Res (2008) 1.01
Molecular cloning and characterization of alternatively spliced mRNA isoforms from psoriatic skin encoding a novel member of the S100 family. FASEB J (2003) 1.00
Methylmalonic acid, a biochemical hallmark of methylmalonic acidurias but no inhibitor of mitochondrial respiratory chain. J Biol Chem (2003) 0.99
A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns. PLoS One (2009) 0.99