Published in Acta Derm Venereol on February 01, 2016
Pembrolizumab-associated sarcoidosis. JAAD Case Rep (2016) 0.76
Pembrolizumab Therapy Triggering an Exacerbation of Preexisting Autoimmune Disease: A Report of 2 Patient Cases. J Investig Med High Impact Case Rep (2016) 0.75
Development of Papulopustular Rosacea during Nivolumab Therapy of Metastatic Cancer. Acta Derm Venereol (2016) 0.75
Differentiation and transplantation of human embryonic stem cell-derived hepatocytes. Gastroenterology (2008) 3.99
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
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
Multicentric Castleman's disease associated with inherited epidermolysis bullosa. J Dermatol (2003) 1.41
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
Pathogenic link between hydroa vacciniforme and Epstein-Barr virus-associated hematologic disorders. Arch Dermatol (2006) 1.22
Microarray analysis identifies an aberrant expression of apoptosis and DNA damage-regulatory genes in multiple sclerosis. Neurobiol Dis (2005) 1.20
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
The microenvironment in hepatocyte regeneration and function in rats with advanced cirrhosis. Hepatology (2012) 1.07
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
Basal cell carcinoma of the nipple in male patients with gastric cancer recurrence: report of a case. Breast Cancer (2010) 1.01
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
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
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
CDKL5 alterations lead to early epileptic encephalopathy in both genders. Epilepsia (2011) 0.96
POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait. Am J Med Genet A (2006) 0.95
MECP2 duplication syndrome in both genders. Brain Dev (2012) 0.94
Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome. Brain Dev (2005) 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
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
GATA3 abnormalities in six patients with HDR syndrome. Endocr J (2011) 0.92
Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1. Endocr J (2007) 0.92
Middle-segment-preserving pancreatectomy for biliary-pancreatic tumors. Hepatogastroenterology (2011) 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
Upregulation of interleukin-13 and its receptor in a murine model of bleomycin-induced scleroderma. Int Arch Allergy Immunol (2004) 0.89
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
Poroma with sebaceous differentiation: report of three cases. Australas J Dermatol (2010) 0.89
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
Characterization of pancreatic ductal cells in human islet preparations. Lab Invest (2008) 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
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
Over-expression of the testis-specific gene TSGA10 in cancers and its immunogenicity. Microbiol Immunol (2004) 0.86
Acral calcified angioleiomyoma. Eur J Dermatol (2009) 0.86
Human parechovirus-3 infection in nine neonates and infants presenting symptoms of hemophagocytic lymphohistiocytosis. J Infect Chemother (2012) 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
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
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
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
An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation. Am J Med Genet A (2015) 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
Two cases of scleredema with pituitary-adrenocortical neoplasms: an underrecognized skin complication. J Dermatol (2011) 0.84
Photoletter to the editor: Proliferating pilomatricoma with no recurrence during a 3-year follow-up. J Dermatol Case Rep (2012) 0.84
Rheumatoid neutrophilic dermatitis, rheumatoid papules, and rheumatoid nodules in a patient with seronegative rheumatoid arthritis. J Am Acad Dermatol (2003) 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
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
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
Submicroscopic deletion of 12q13 including HOXC gene cluster with skeletal anomalies and global developmental delay. Am J Med Genet A (2011) 0.83
Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB6. Am J Med Genet A (2010) 0.83
Erythema elevatum diutinum associated with Hashimoto's thyroiditis and antiphospholipid antibodies. J Am Acad Dermatol (2005) 0.83
A case of sebaceous naevus of the leg with secondarily developed trichoblastoma. Acta Derm Venereol (2010) 0.83
Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications. Brain Dev (2009) 0.83
Genital pyoderma gangrenosum: report of two cases and published work review of Japanese cases. J Dermatol (2013) 0.83
Deep dermatophytosis during topical tacrolimus therapy for psoriasis. Acta Derm Venereol (2003) 0.83
Microarray analysis identifies interferon beta-regulated genes in multiple sclerosis. J Neuroimmunol (2003) 0.82
Expression profiles of urbilaterian genes uniquely shared between honey bee and vertebrates. BMC Genomics (2009) 0.82
HLA-class II and class I genotypes among Japanese children with Type 1A diabetes and their families. Pediatr Diabetes (2011) 0.82
Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients. Am J Med Genet A (2013) 0.82
Two different types of infantile renal cell carcinomas associated with tuberous sclerosis. J Pediatr Surg (2011) 0.82
Guidelines for the management of cutaneous lymphomas (2011): a consensus statement by the Japanese Skin Cancer Society - Lymphoma Study Group. J Dermatol (2012) 0.82
Screening for diabetes by urine glucose testing at school in Japan. Pediatr Diabetes (2004) 0.81
Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination. J Hum Genet (2012) 0.81
A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus-Merzbacher-like disease. J Neurol Sci (2013) 0.81
A sensitive radioimmunoassay of insulin autoantibody: reduction of non-specific binding of [125I]insulin. J Autoimmun (2006) 0.81
Brainstem disconnection associated with nodular heterotopia and proatlantal arteries. Am J Med Genet A (2009) 0.81
Lichen striatus following influenza infection. J Dermatol (2014) 0.81