Published in Acta Derm Venereol on January 01, 2009
Molecular and neurological characterizations of three Saudi families with lipoid proteinosis. BMC Med Genet (2011) 0.99
Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family. Diagn Pathol (2011) 0.91
Homozygous frame shift mutation in ECM1 gene in two siblings with lipoid proteinosis. J Dermatol Case Rep (2010) 0.86
A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature. Mol Syndromol (2016) 0.75
Extracellular matrix protein 1 gene (ECM1) mutations in nine Iranian families with lipoid proteinosis. Indian J Med Res (2016) 0.75
Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas. Cancer Res (2008) 6.44
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med (2014) 4.70
The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol (2008) 3.72
Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa. J Invest Dermatol (2008) 3.34
Bipolar I disorder and schizophrenia: a 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent trios. Am J Hum Genet (2005) 3.03
Bone marrow transplantation for recessive dystrophic epidermolysis bullosa. N Engl J Med (2010) 2.82
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
Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3. Am J Psychiatry (2012) 2.48
Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet (2002) 2.41
Microdeletions of 3q29 confer high risk for schizophrenia. Am J Hum Genet (2010) 2.38
Prediction of real-world functional disability in chronic mental disorders: a comparison of schizophrenia and bipolar disorder. Am J Psychiatry (2010) 2.35
The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations. J Am Acad Dermatol (2008) 2.29
Association of EGFR mutation or ALK rearrangement with expression of DNA repair and synthesis genes in never-smoker women with pulmonary adenocarcinoma. Cancer (2012) 2.24
The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1. Exp Dermatol (2007) 1.98
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
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet (2003) 1.94
Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. Arthritis Rheum (2012) 1.87
Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata. J Invest Dermatol (2003) 1.72
A randomized controlled trial of cognitive behavioral therapy for individuals at clinical high risk of psychosis. Schizophr Res (2010) 1.68
Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. J Invest Dermatol (2003) 1.67
The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations. Hum Mutat (2011) 1.65
Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression. J Invest Dermatol (2007) 1.57
Genomewide scan for linkage reveals evidence of several susceptibility loci for alopecia areata. Am J Hum Genet (2007) 1.55
Genomic analysis of pilocytic astrocytomas at 0.97 Mb resolution shows an increasing tendency toward chromosomal copy number change with age. J Neuropathol Exp Neurol (2006) 1.54
HB-EGF induces COL7A1 expression in keratinocytes and fibroblasts: possible mechanism underlying allogeneic fibroblast therapy in recessive dystrophic epidermolysis Bullosa. J Invest Dermatol (2011) 1.54
Increased vitamin D serum levels correlate with clinical improvement of rheumatic diseases after Dead Sea climatotherapy. Isr Med Assoc J (2011) 1.52
Decreased androgen receptor expression may contribute to spermatogenesis failure in rats exposed to low concentration of bisphenol A. Toxicol Lett (2013) 1.52
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
High-molecular-weight aggregates in repackaged bevacizumab. Retina (2010) 1.45
Enhanced Thermostability of Arabidopsis Rubisco activase improves photosynthesis and growth rates under moderate heat stress. Plant Cell (2007) 1.44
High-resolution array-based comparative genomic hybridization of medulloblastomas and supratentorial primitive neuroectodermal tumors. J Neuropathol Exp Neurol (2006) 1.43
Genomewide linkage scan for schizophrenia susceptibility loci among Ashkenazi Jewish families shows evidence of linkage on chromosome 10q22. Am J Hum Genet (2003) 1.40
Autoantibodies to extracellular matrix protein 1 in lichen sclerosus. Lancet (2003) 1.39
PDGFRalpha-positive cells in bone marrow are mobilized by high mobility group box 1 (HMGB1) to regenerate injured epithelia. Proc Natl Acad Sci U S A (2011) 1.38
Genetic diseases of junctions. J Invest Dermatol (2007) 1.38
Application of array CGH on archival formalin-fixed paraffin-embedded tissues including small numbers of microdissected cells. Lab Invest (2006) 1.35
An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. J Invest Dermatol (2006) 1.33
Complex chromosome 22 rearrangements in astrocytic tumors identified using microsatellite and chromosome 22 tile path array analysis. Genes Chromosomes Cancer (2005) 1.31
Expression of mineralization markers in dental pulp cells. J Endod (2007) 1.29
Genomewide linkage scan for bipolar-disorder susceptibility loci among Ashkenazi Jewish families. Am J Hum Genet (2004) 1.29
Synthesis and investigations of double-pharmacophore ligands for treatment of chronic and neuropathic pain. Bioorg Med Chem (2009) 1.28
Fine mapping on chromosome 10q22-q23 implicates Neuregulin 3 in schizophrenia. Am J Hum Genet (2009) 1.27
Hypocretin/orexin contributes to the expression of some but not all forms of stress and arousal. Eur J Neurosci (2009) 1.22
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. Am J Hum Genet (2006) 1.21
Genome-wide identification of SOC1 and SVP targets during the floral transition in Arabidopsis. Plant J (2012) 1.20
Rescue of cystathionine beta-synthase (CBS) mutants with chemical chaperones: purification and characterization of eight CBS mutant enzymes. J Biol Chem (2010) 1.20
Improved grading and survival prediction of human astrocytic brain tumors by artificial neural network analysis of gene expression microarray data. Mol Cancer Ther (2008) 1.20
A review: recent advances and future prospects of taxol-producing endophytic fungi. Appl Microbiol Biotechnol (2010) 1.20
Relationship of the Brief UCSD Performance-based Skills Assessment (UPSA-B) to multiple indicators of functioning in people with schizophrenia and bipolar disorder. Bipolar Disord (2010) 1.19
LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosum. J Invest Dermatol (2005) 1.19
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a case report. Pediatr Dermatol (2010) 1.17
Muscarinic receptor subtypes in human bladder detrusor and mucosa, studied by radioligand binding and quantitative competitive RT-PCR: changes in ageing. Br J Pharmacol (2005) 1.17
Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability. J Cell Sci (2003) 1.16
Progress in epidermolysis bullosa research: toward treatment and cure. J Invest Dermatol (2010) 1.16
Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. J Invest Dermatol (2002) 1.15
Nickel, chromium and cobalt in consumer products: revisiting safe levels in the new millennium. Contact Dermatitis (2003) 1.14
Tarsal and metatarsal bone mineral density measurement using volumetric quantitative computed tomography. J Digit Imaging (2008) 1.14
The role of protein dynamics in thymidylate synthase catalysis: variants of conserved 2'-deoxyuridine 5'-monophosphate (dUMP)-binding Tyr-261. Biochemistry (2006) 1.14
Diseases of epidermal keratins and their linker proteins. Exp Cell Res (2007) 1.13
Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis. J Invest Dermatol (2009) 1.13
Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations. Arch Dermatol (2006) 1.12
The conformational dynamics of a metastable serpin studied by hydrogen exchange and mass spectrometry. Biochemistry (2006) 1.12
Sensitivity and specificity of the UCSD Performance-based Skills Assessment (UPSA-B) for identifying functional milestones in schizophrenia. Schizophr Res (2011) 1.11
Kindler syndrome. Dermatol Clin (2010) 1.11
The H syndrome is caused by mutations in the nucleoside transporter hENT3. Am J Hum Genet (2008) 1.11
Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis. Am J Hum Genet (2008) 1.10
Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene. J Invest Dermatol (2006) 1.10
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. Nat Genet (2012) 1.08
Fibroblast-derived dermal matrix drives development of aggressive cutaneous squamous cell carcinoma in patients with recessive dystrophic epidermolysis bullosa. Cancer Res (2012) 1.07
Volumetric quantitative computed tomography measurement precision for volumes and densities of tarsal and metatarsal bones. J Clin Densitom (2011) 1.07
Extracellular matrix protein 1 inhibits the activity of matrix metalloproteinase 9 through high-affinity protein/protein interactions. Exp Dermatol (2006) 1.07
A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease. J Invest Dermatol (2006) 1.04
Progress in Epidermolysis bullosa research: summary of DEBRA International Research Conference 2012. J Invest Dermatol (2013) 1.04
Alterations in desmosome size and number coincide with the loss of keratinocyte cohesion in skin with homozygous and heterozygous defects in the desmosomal protein plakophilin 1. J Invest Dermatol (2003) 1.04
Novel molecular therapies for heritable skin disorders. J Invest Dermatol (2011) 1.03
Revertant mosaicism in skin: natural gene therapy. Trends Mol Med (2010) 1.03
Fast classification and compositional analysis of cornstover fractions using Fourier transform near-infrared techniques. Bioresour Technol (2008) 1.03
A novel splice-site mutation in ECM-1 gene in a consanguineous family with lipoid proteinosis. Exp Dermatol (2005) 1.02
A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes. Hum Mol Genet (2008) 1.02
Short postoperative survival for glioblastoma patients with a dysfunctional Rb1 pathway in combination with no wild-type PTEN. Clin Cancer Res (2003) 1.02
North American Prodrome Longitudinal Study (NAPLS 2): The Prodromal Symptoms. J Nerv Ment Dis (2015) 1.02
Increased invasive behaviour in cutaneous squamous cell carcinoma with loss of basement-membrane type VII collagen. J Cell Sci (2009) 1.01
Tryptophan 80 and leucine 143 are critical for the hydride transfer step of thymidylate synthase by controlling active site access. Biochemistry (2002) 1.01
Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. J Clin Endocrinol Metab (2004) 1.00
Crystal structure of a mono- and diacylglycerol lipase from Malassezia globosa reveals a novel lid conformation and insights into the substrate specificity. J Struct Biol (2012) 1.00
Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin. Neuromuscul Disord (2010) 0.99
The in vivo pediculicidal efficacy of a natural remedy. Isr Med Assoc J (2002) 0.99
Molecular and neurological characterizations of three Saudi families with lipoid proteinosis. BMC Med Genet (2011) 0.99
Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility. Am J Hum Genet (2012) 0.99
Clinical and experimental study on regional administration of phosphorus 32 glass microspheres in treating hepatic carcinoma. World J Gastroenterol (1999) 0.99