Published in J Am Acad Dermatol on November 01, 2005
Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. Am J Hum Genet (2012) 1.91
Olmsted syndrome: exploration of the immunological phenotype. Orphanet J Rare Dis (2013) 1.11
Olmsted syndrome: clinical, molecular and therapeutic aspects. Orphanet J Rare Dis (2015) 0.92
Olmsted syndrome caused by a homozygous recessive mutation in TRPV3. J Invest Dermatol (2014) 0.85
A novel mutation in TRPV3 gene causes atypical familial Olmsted syndrome. Sci Rep (2016) 0.76
Olmsted syndrome. J Dermatol Case Rep (2013) 0.76
Expanding the Phenotypic Spectrum of Olmsted Syndrome. J Invest Dermatol (2015) 0.75
Olmsted Syndrome: Rare Occurrence in Four Siblings. Indian J Dermatol (2016) 0.75
TRPV3 mutants causing Olmsted Syndrome induce impaired cell adhesion and nonfunctional lysosomes. Channels (Austin) (2016) 0.75
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. Nat Genet (2004) 3.13
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. J Am Acad Dermatol (2010) 2.87
IL-22-producing "T22" T cells account for upregulated IL-22 in atopic dermatitis despite reduced IL-17-producing TH17 T cells. J Allergy Clin Immunol (2009) 2.77
Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. J Invest Dermatol (2009) 2.58
The autologous serum skin test in a cohort of chronic idiopathic urticaria patients compared to respiratory allergy patients and healthy individuals. J Eur Acad Dermatol Venereol (2007) 2.20
Absence of intraepidermal glycosyltransferase ppGalNac-T3 expression in familial tumoral calcinosis. Am J Dermatopathol (2005) 2.09
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet (2005) 1.97
Low expression of the IL-23/Th17 pathway in atopic dermatitis compared to psoriasis. J Immunol (2008) 1.90
Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin. J Invest Dermatol (2010) 1.71
Positive patch test reactions to allergens of the dental series and the relation to the clinical presentations. Contact Dermatitis (2006) 1.69
Major differences in inflammatory dendritic cells and their products distinguish atopic dermatitis from psoriasis. J Allergy Clin Immunol (2007) 1.60
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis. Am J Hum Genet (2006) 1.57
Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase. Am J Hum Genet (2007) 1.56
A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. Am J Hum Genet (2005) 1.51
A case of paracetamol-induced acute generalized exanthematous pustulosis in a pregnant woman localized in the neck region. Skinmed (2004) 1.51
Teledermatology: quality assessment by user satisfaction and clinical efficiency. Isr Med Assoc J (2005) 1.50
Broad defects in epidermal cornification in atopic dermatitis identified through genomic analysis. J Allergy Clin Immunol (2009) 1.50
A comparative study of immunohistochemistry and electron microscopy used in the diagnosis of epidermolysis bullosa. Am J Dermatopathol (2003) 1.44
A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification. Hum Genet (2005) 1.43
Reply to ultrastructural study of the clinically uninvolved skin in familial tumoral calcinosis caused by mutations in GALNT3. Am J Dermatopathol (2006) 1.40
Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders. J Mol Med (Berl) (2004) 1.40
Clinical and imaging findings in patients with neurosyphilis: a study of a cohort and review of the literature. Int J Dermatol (2013) 1.39
Bilateral hippocampal lesion and a selective impairment of the ability for mental time travel. Neurocase (2010) 1.38
Chlorpyrifos exacerbating pemphigus vulgaris: a preliminary report and suggested in vitro immunologic evaluation model. Skinmed (2006) 1.38
Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred. J Hum Genet (2006) 1.38
Molecular cloning of IBP, a SWAP-70 homologous GEF, which is highly expressed in the immune system. Hum Immunol (2003) 1.28
Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis. Am J Hum Genet (2008) 1.27
Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein. J Invest Dermatol (2007) 1.25
A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria. Kidney Int (2005) 1.21
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
SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4. Am J Hum Genet (2008) 1.16
Familial pityriasis rubra pilaris is caused by mutations in CARD14. Am J Hum Genet (2012) 1.16
Desmoglein-1/Erbin interaction suppresses ERK activation to support epidermal differentiation. J Clin Invest (2013) 1.11
Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis. Biochim Biophys Acta (2008) 1.10
ABCA12 is the major harlequin ichthyosis gene. J Invest Dermatol (2006) 1.08
The alopecias associated with vitamin D-dependent rickets type IIA and with hairless gene mutations: a comparative clinical, histologic, and immunohistochemical study. Arch Dermatol (2005) 1.07
Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis. J Invest Dermatol (2010) 1.07
Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1. Am J Med Genet A (2013) 1.04
Late-onset granulomatous reaction to Artecoll. Dermatol Surg (2003) 1.03
Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B. Arch Dermatol (2008) 1.02
In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth. J Invest Dermatol (2009) 1.00
ADULT syndrome caused by a mutation previously associated with EEC syndrome. Pediatr Dermatol (2010) 0.99
The beneficial effect of blocking Kv1.3 in the psoriasiform SCID mouse model. J Invest Dermatol (2010) 0.99
The immigration delay disease: adermatoglyphia-inherited absence of epidermal ridges. J Am Acad Dermatol (2010) 0.98
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation. Am J Hum Genet (2012) 0.96
Identification of mutations in the human hairless gene in two new families with congenital atrichia. Arch Dermatol Res (2007) 0.96
Drug-induced pemphigus. Clin Dermatol (2011) 0.96
A comparison of anti-desmoglein antibodies and indirect immunofluorescence in the serodiagnosis of pemphigus vulgaris. Int J Dermatol (2005) 0.95
A novel mutation in RASA1 causes capillary malformation and limb enlargement. Arch Dermatol Res (2008) 0.95
Infection with Kaposi's sarcoma-associated herpesvirus among families of patients with classic Kaposi's sarcoma. Arch Dermatol (2005) 0.93
Hydrolytic and nonenzymatic functions of acetylcholinesterase comodulate hemopoietic stress responses. J Immunol (2006) 0.93
Loss of SNAP29 impairs endocytic recycling and cell motility. PLoS One (2010) 0.93
[Paget's disease of the breast]. Harefuah (2003) 0.93
Familial clustering of classic Kaposi sarcoma. J Infect Dis (2004) 0.93
Treatment of severe chronic idiopathic urticaria with oral mycophenolate mofetil in patients not responding to antihistamines and/or corticosteroids. Int J Dermatol (2006) 0.92
GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity. Biochim Biophys Acta (2008) 0.92
A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis. Am J Hum Genet (2011) 0.92
Targeting perlecan in human keratinocytes reveals novel roles for perlecan in epidermal formation. J Biol Chem (2005) 0.92
RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. Am J Hum Genet (2009) 0.92
A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy. J Invest Dermatol (2002) 0.92
Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy. J Invest Dermatol (2003) 0.91
Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata. J Am Acad Dermatol (2005) 0.91
Epidermolysis bullosa simplex in Israel: clinical and genetic features. Arch Dermatol (2003) 0.90
Klinefelter's syndrome presenting with leg ulcers. Skinmed (2004) 0.90
The hyper-IgE syndrome is not caused by a microdeletion syndrome. Immunogenetics (2007) 0.89
Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families. J Invest Dermatol (2004) 0.89
A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia. Am J Hum Genet (2011) 0.89
A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma. Am J Dermatopathol (2008) 0.88
Familial mycosis fungoides: report of 6 kindreds and a study of the HLA system. J Am Acad Dermatol (2005) 0.88
P-cadherin regulates human hair growth and cycling via canonical Wnt signaling and transforming growth factor-β2. J Invest Dermatol (2012) 0.87
Rapid detection of homozygous mutations in congenital recessive ichthyosis. Arch Dermatol Res (2007) 0.86
Population-specific association between a polymorphic variant in ST18, encoding a pro-apoptotic molecule, and pemphigus vulgaris. J Invest Dermatol (2012) 0.86
A systemic reaction to patch testing for the evaluation of acute generalized exanthematous pustulosis. Arch Dermatol (2003) 0.86
Identification of a novel locus associated with congenital recessive ichthyosis on 12p11.2-q13. J Invest Dermatol (2005) 0.86