Published in Arch Dermatol on December 01, 2009
Differentiation and transplantation of human embryonic stem cell-derived hepatocytes. Gastroenterology (2008) 3.99
Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet (2003) 2.73
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
Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23. Am J Med Genet A (2006) 1.70
Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. J Invest Dermatol (2003) 1.67
Role of IL-12B promoter polymorphism in Adamantiades-Behcet's disease susceptibility: An involvement of Th1 immunoreactivity against Streptococcus Sanguinis antigen. J Invest Dermatol (2006) 1.59
Flagellate erythema. Int J Dermatol (2006) 1.45
Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication. J Hum Genet (2012) 1.45
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. Ann Neurol (2004) 1.40
Pyoderma gangrenosum following surgical procedures. Int J Dermatol (2010) 1.38
STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study. Epilepsia (2010) 1.30
Sustained activation of fibroblast transforming growth factor-beta/Smad signaling in a murine model of scleroderma. J Invest Dermatol (2003) 1.26
Hepatic irradiation augments engraftment of donor cells following hepatocyte transplantation. Hepatology (2009) 1.23
Behçet's disease (Adamantiades-Behçet's disease). Clin Dev Immunol (2010) 1.21
Microarray analysis identifies an aberrant expression of apoptosis and DNA damage-regulatory genes in multiple sclerosis. Neurobiol Dis (2005) 1.20
Pten deficiency in melanocytes results in resistance to hair graying and susceptibility to carcinogen-induced melanomagenesis. Cancer Res (2008) 1.19
Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome. Am J Med Genet A (2004) 1.19
Niemann-Pick type C disease: accelerated neurofibrillary tangle formation and amyloid beta deposition associated with apolipoprotein E epsilon 4 homozygosity. Ann Neurol (2002) 1.16
T cell gene expression profiling identifies distinct subgroups of Japanese multiple sclerosis patients. J Neuroimmunol (2006) 1.13
A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae. Eur J Med Genet (2009) 1.12
Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy. J Hum Genet (2011) 1.10
Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB. J Med Genet (2010) 1.09
Genomic copy number variations at 17p13.3 and epileptogenesis. Epilepsy Res (2010) 1.09
Interaction of extracellular matrix protein 1 with extracellular matrix components: ECM1 is a basement membrane protein of the skin. J Invest Dermatol (2008) 1.08
The microenvironment in hepatocyte regeneration and function in rats with advanced cirrhosis. Hepatology (2012) 1.07
Extracellular matrix protein 1 inhibits the activity of matrix metalloproteinase 9 through high-affinity protein/protein interactions. Exp Dermatol (2006) 1.07
Sebaceous carcinoma: an immunohistochemical reappraisal. Am J Dermatopathol (2011) 1.06
TULIP1 (RALGAPA1) haploinsufficiency with brain development delay. Genomics (2009) 1.06
Transgenic expression of dominant negative tuberin through a strong constitutive promoter results in a tissue-specific tuberous sclerosis phenotype in the skin and brain. J Biol Chem (2004) 1.04
A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. Gene (2013) 1.03
Two patients with atypical interstitial deletions of 8p23.1: mapping of phenotypical traits. Am J Med Genet A (2008) 1.03
Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region. Eur J Med Genet (2012) 1.01
A clinicopathologic study of folliculosebaceous cystic hamartoma. Am J Dermatopathol (2010) 1.00
A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination. Am J Med Genet A (2011) 1.00
Origin and mechanisms of formation of fetus-in-fetu: two cases with genotype and methylation analyses. Am J Med Genet A (2006) 0.99
A revaluation of folliculosebaceous cystic hamartoma: the histopathological and immunohistochemical features. Am J Dermatopathol (2010) 0.99
The role of streptococcal hypersensitivity in the pathogenesis of Behçet's Disease. Eur J Dermatol (2008) 0.99
Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome. Am J Hum Genet (2007) 0.99
Fibrofolliculoma/trichodiscoma and fibrous papule (perifollicular fibroma/angiofibroma): a revaluation of the histopathological and immunohistochemical features. J Cutan Pathol (2009) 0.98
Interstitial type granuloma annulare associated with Sjögren's syndrome. J Dermatol (2010) 0.98
West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14. Am J Med Genet A (2011) 0.98
Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. J Med Genet (2010) 0.97
Eruptive molluscum contagiosums in a patient with rheumatoid arthritis and lung cancer. Rheumatol Int (2010) 0.96
A revaluation of trichofolliculoma: the histopathological and immunohistochemical features. Am J Dermatopathol (2010) 0.96
CDKL5 alterations lead to early epileptic encephalopathy in both genders. Epilepsia (2011) 0.96
Macrophage-derived chemokine (MDC)/CCL22 produced by monocyte derived dendritic cells reflects the disease activity in patients with atopic dermatitis. J Dermatol Sci (2006) 0.95
POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait. Am J Med Genet A (2006) 0.95
Rippled-pattern sebaceoma: a clinicopathological study. Am J Dermatopathol (2009) 0.94
MECP2 duplication syndrome in both genders. Brain Dev (2012) 0.94
Development of antigen-specific ELISA for circulating autoantibodies to extracellular matrix protein 1 in lichen sclerosus. J Clin Invest (2004) 0.93
Surgical design and outcome of duodenum-preserving pancreatic head resection for benign or low-grade malignant tumors. J Hepatobiliary Pancreat Sci (2009) 0.93
Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome. Brain Dev (2005) 0.93
Application of array-based comparative genome hybridization in children with developmental delay or mental retardation. Pediatr Neonatol (2008) 0.93
Erythema nodosum-like cutaneous lesions of sarcoidosis showing livedoid changes in a patient with sarcoidosis and Sjögren's syndrome. Eur J Dermatol (2010) 0.92
Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1. Endocr J (2007) 0.92
Exacerbation of Psoriasis During Nivolumab Therapy for Metastatic Melanoma. Acta Derm Venereol (2016) 0.92
Middle-segment-preserving pancreatectomy for biliary-pancreatic tumors. Hepatogastroenterology (2011) 0.91
Sweet's syndrome evolved from recurrent erythema nodosum in a patient with myelodysplastic syndrome. J Dermatol (2002) 0.91
Two concurrent chromosomal aberrations involving interstitial deletion in 1q24.2q25.2 and inverted duplication and deletion in 10q26 in a patient with stroke associated with antithrombin deficiency and a patent foramen ovale. Am J Med Genet A (2011) 0.91
Cholecystectomy using single-incision laparoscopic surgery with a new SILS port. J Hepatobiliary Pancreat Sci (2010) 0.90
A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish. J Hum Genet (2010) 0.90
Hypersensitivity to mosquito bites with natural-killer cell lymphocytosis: the possible implication of Epstein-Barr virus reactivation. Eur J Dermatol (2002) 0.89
Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation. Brain Dev (2012) 0.89
Upregulation of interleukin-13 and its receptor in a murine model of bleomycin-induced scleroderma. Int Arch Allergy Immunol (2004) 0.89
Poroma with sebaceous differentiation: report of three cases. Australas J Dermatol (2010) 0.89
Usefulness of BP180 NC16a enzyme-linked immunosorbent assay in the serodiagnosis of pemphigoid gestationis and in differentiating between pemphigoid gestationis and pruritic urticarial papules and plaques of pregnancy. Arch Dermatol (2005) 0.88
A genomic and expression study of AP-1 in primary cutaneous T-cell lymphoma: evidence for dysregulated expression of JUNB and JUND in MF and SS. J Cutan Pathol (2008) 0.88
Single nucleotide polymorphisms of Ficolin 2 gene in Behçet's disease. J Dermatol Sci (2006) 0.88
Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV. Am J Med Genet A (2011) 0.88
Bullous leukaemia cutis. Eur J Dermatol (2012) 0.87
PRRT2 mutation in Japanese children with benign infantile epilepsy. Brain Dev (2012) 0.87
Spondylometaphyseal dysplasia with cone-rod dystrophy. Am J Med Genet A (2011) 0.87
Persistent pruritic papules and plaques associated with adult-onset Still's disease: report of six cases. J Dermatol (2014) 0.87
Characterization of pancreatic ductal cells in human islet preparations. Lab Invest (2008) 0.87
A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsy. Am J Med Genet A (2010) 0.87
Acral calcified angioleiomyoma. Eur J Dermatol (2009) 0.86
Genome profiling of melanocytic tumors using multiplex ligation-dependent probe amplification (MLPA): Its usefulness as an adjunctive diagnostic tool for melanocytic tumors. J Dermatol Sci (2005) 0.86
Nodular cystic fat necrosis with systemic sclerosis. Eur J Dermatol (2004) 0.86
Sirenomelia with a de novo balanced translocation 46,X,t(X;16)(p11.23;p12.3). Congenit Anom (Kyoto) (2012) 0.85
Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly. Genesis (2010) 0.85
An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation. Am J Med Genet A (2015) 0.85
Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement. Am J Med Genet A (2013) 0.85
A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity. Am J Med Genet A (2013) 0.85
Interstitial microdeletion of 4p16.3: contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome. Am J Med Genet A (2010) 0.85
An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease. Am J Med Genet A (2012) 0.85
GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome. Am J Med Genet A (2007) 0.85
ACTA2 is not a major disease-causing gene for moyamoya disease. J Hum Genet (2009) 0.84
Juvenile-onset keratosis lichenoides chronica treated successfully with topical tacrolimus: a safe and favourable outcome. Eur J Dermatol (2011) 0.84
A de novo 1.9-Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay. Am J Med Genet A (2009) 0.84
Rheumatoid neutrophilic dermatitis, rheumatoid papules, and rheumatoid nodules in a patient with seronegative rheumatoid arthritis. J Am Acad Dermatol (2003) 0.84
Photoletter to the editor: Proliferating pilomatricoma with no recurrence during a 3-year follow-up. J Dermatol Case Rep (2012) 0.84
Molecular diagnosis of basal cell carcinoma and other basaloid cell neoplasms of the skin by the quantification of Gli1 transcript levels. J Cutan Pathol (2005) 0.84
109 kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome. Am J Med Genet A (2013) 0.84
Two cases of scleredema with pituitary-adrenocortical neoplasms: an underrecognized skin complication. J Dermatol (2011) 0.84
Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies. J Neurol (2014) 0.84
New GAA mutations in Japanese patients with GSDII (Pompe disease). Pediatr Neurol (2003) 0.83