Sirkku Peltonen

Author PubWeight™ 25.06‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities. J Invest Dermatol 2009 1.62
2 The pathoetiology of neurofibromatosis 1. Am J Pathol 2011 1.13
3 Class III beta-tubulin is a component of the mitotic spindle in multiple cell types. J Histochem Cytochem 2008 1.09
4 The development of cutaneous neurofibromas. Am J Pathol 2011 1.04
5 Reevaluation of the normal epidermal calcium gradient, and analysis of calcium levels and ATP receptors in Hailey-Hailey and Darier epidermis. J Invest Dermatol 2008 1.00
6 Myelination in mouse dorsal root ganglion/Schwann cell cocultures. Mol Cell Neurosci 2007 0.99
7 Autosomal dominant diabetes arising from a Wolfram syndrome 1 mutation. Diabetes 2013 0.99
8 Legius syndrome in fourteen families. Hum Mutat 2011 0.95
9 Isolation, purification and expansion of myelination-competent, neonatal mouse Schwann cells. Eur J Neurosci 2007 0.93
10 Oral soft tissue alterations in patients with neurofibromatosis. Clin Oral Investig 2011 0.92
11 Congenital pseudarthrosis of neurofibromatosis type 1: impaired osteoblast differentiation and function and altered NF1 gene expression. Bone 2008 0.90
12 Osteoclasts in neurofibromatosis type 1 display enhanced resorption capacity, aberrant morphology, and resistance to serum deprivation. Bone 2010 0.90
13 Neurofibromatosis 1 and dental caries. Clin Oral Investig 2009 0.86
14 Neurofibromatosis type 1 gene mutation analysis using sequence capture and high-throughput sequencing. Acta Derm Venereol 2014 0.84
15 Periapical cemental dysplasia is common in women with NF1. Eur J Med Genet 2007 0.84
16 Radiographic findings in the jaws of patients with neurofibromatosis 1. J Oral Maxillofac Surg 2012 0.84
17 Tight junction proteins in human Schwann cell autotypic junctions. J Histochem Cytochem 2009 0.83
18 NF1 tumor suppressor mRNA is targeted to the cell-cell contact zone in Ca(2+)-induced keratinocyte differentiation. Lab Invest 2002 0.83
19 Keratinocyte growth factor induces gene expression signature associated with suppression of malignant phenotype of cutaneous squamous carcinoma cells. PLoS One 2012 0.82
20 A controlled register-based study of 460 neurofibromatosis 1 patients: increased fracture risk in children and adults over 41 years of age. J Bone Miner Res 2012 0.82
21 Hailey-Hailey disease and tight junctions: Claudins 1 and 4 are regulated by ATP2C1 gene encoding Ca(2+) /Mn(2+) ATPase SPCA1 in cultured keratinocytes. Exp Dermatol 2012 0.81
22 p38δ mitogen-activated protein kinase regulates the expression of tight junction protein ZO-1 in differentiating human epidermal keratinocytes. Arch Dermatol Res 2013 0.81
23 Brooke-Spiegler syndrome associated with ulcerative rectosigmoiditis. Acta Derm Venereol 2013 0.80
24 Short mandible, maxilla and cranial base are common in patients with neurofibromatosis 1. Eur J Oral Sci 2011 0.80
25 Functional expression of NF1 tumor suppressor protein: association with keratin intermediate filaments during the early development of human epidermis. BMC Dermatol 2002 0.78
26 Speech characteristics in neurofibromatosis type 1. Am J Med Genet A 2010 0.77
27 Osteoclasts derived from patients with neurofibromatosis 1 (NF1) display insensitivity to bisphosphonates in vitro. Bone 2011 0.77
28 Phenotypic characterization of transgenic mice harboring Nf1+/- or Nf1-/- osteoclasts in otherwise Nf1+/+ background. J Cell Biochem 2012 0.76
29 Follow-up of six patients with neurofibromatosis 1-related osteoporosis treated with alendronate for 23 months. Calcif Tissue Int 2014 0.75
30 Neurofibromatosis 1-related osteopenia often progresses to osteoporosis in 12 years. Calcif Tissue Int 2012 0.75
31 Dental age in patients with neurofibromatosis 1. Eur J Oral Sci 2012 0.75
32 [How to recognize neurofibromatosis?]. Duodecim 2014 0.75