Published in Am J Dermatopathol on February 01, 2016
Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science (2011) 6.19
TLR3 deficiency in patients with herpes simplex encephalitis. Science (2007) 5.86
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet (2009) 5.84
Sox9 is essential for outer root sheath differentiation and the formation of the hair stem cell compartment. Curr Biol (2005) 4.04
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J Exp Med (2010) 3.98
Increased serine protease activity and cathelicidin promotes skin inflammation in rosacea. Nat Med (2007) 3.75
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
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med (2011) 3.63
High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses. Blood (2012) 3.44
Crosstalk between neutrophils, B-1a cells and plasmacytoid dendritic cells initiates autoimmune diabetes. Nat Med (2012) 3.27
Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations. J Invest Dermatol (2009) 2.94
Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis. N Engl J Med (2011) 2.93
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. J Am Acad Dermatol (2010) 2.87
Accuracy of standard dermoscopy for diagnosing scabies. J Am Acad Dermatol (2006) 2.54
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. Lancet Neurol (2013) 2.36
Kallikrein-mediated proteolysis regulates the antimicrobial effects of cathelicidins in skin. FASEB J (2006) 2.33
Clinical study of 40 cases of incontinentia pigmenti. Arch Dermatol (2003) 2.29
NF-1Score: a prediction score for internal neurofibromas in neurofibromatosis-1. J Invest Dermatol (2010) 2.25
X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production. J Exp Med (2006) 2.18
CHOP alone compared with CHOP plus radiotherapy for localized aggressive lymphoma in elderly patients: a study by the Groupe d'Etude des Lymphomes de l'Adulte. J Clin Oncol (2007) 2.17
Skin markers of occult spinal dysraphism in children: a review of 54 cases. Arch Dermatol (2004) 2.16
Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. Blood (2003) 2.11
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat (2008) 2.00
Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity. Nat Genet (2004) 1.99
Dose-dense rituximab-CHOP compared with standard rituximab-CHOP in elderly patients with diffuse large B-cell lymphoma (the LNH03-6B study): a randomised phase 3 trial. Lancet Oncol (2013) 1.98
IgG4-related skin disease successfully treated by thalidomide: a report of 2 cases with emphasis on pathological aspects. JAMA Dermatol (2013) 1.98
Novel ABCC6 mutations in pseudoxanthoma elasticum. J Invest Dermatol (2004) 1.97
Cutaneous hematologic disorders in children. Pediatr Blood Cancer (2011) 1.95
Preoperative circulating tumor cell detection using the isolation by size of epithelial tumor cell method for patients with lung cancer is a new prognostic biomarker. Clin Cancer Res (2010) 1.95
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet (2004) 1.94
Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. Hum Mol Genet (2003) 1.94
A European study of HLA-B in Stevens-Johnson syndrome and toxic epidermal necrolysis related to five high-risk drugs. Pharmacogenet Genomics (2008) 1.92
A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. J Clin Invest (2003) 1.92
Kallikrein 5 induces atopic dermatitis-like lesions through PAR2-mediated thymic stromal lymphopoietin expression in Netherton syndrome. J Exp Med (2009) 1.83
Granulomatous mycosis fungoides and granulomatous slack skin: a multicenter study of the Cutaneous Lymphoma Histopathology Task Force Group of the European Organization For Research and Treatment of Cancer (EORTC). Arch Dermatol (2008) 1.78
Long-term efficacy of the interleukin-1 receptor antagonist anakinra in ten patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome. Arthritis Rheum (2010) 1.75
Repair of the lower and middle parts of the face by composite tissue allotransplantation in a patient with massive plexiform neurofibroma: a 1-year follow-up study. Lancet (2008) 1.73
Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease. J Invest Dermatol (2003) 1.67
Induced pluripotent stem cells from individuals with recessive dystrophic epidermolysis bullosa. J Invest Dermatol (2010) 1.62
A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa. J Invest Dermatol (2010) 1.61
Retention of Plasmodium falciparum ring-infected erythrocytes in the slow, open microcirculation of the human spleen. Blood (2008) 1.58
Presence of chimeric maternally derived keratinocytes in cutaneous inflammatory diseases of children: the example of pityriasis lichenoides. J Invest Dermatol (2006) 1.58
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet (2012) 1.55
Immunoglobulin heavy chain/light chain pair measurement is associated with survival in diffuse large B-cell lymphoma. Leuk Lymphoma (2013) 1.49
Membrane expression of NK receptors CD160 and CD158k contributes to delineate a unique CD4+ T-lymphocyte subset in normal and mycosis fungoides skin. Cytometry A (2014) 1.48
Circulating natural killer lymphocytes are potential cytotoxic effectors against autologous malignant cells in sezary syndrome patients. J Invest Dermatol (2005) 1.44
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. J Invest Dermatol (2002) 1.42
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum Mutat (2011) 1.42
LEKTI fragments specifically inhibit KLK5, KLK7, and KLK14 and control desquamation through a pH-dependent interaction. Mol Biol Cell (2007) 1.40
ITMIG consensus statement on the use of the WHO histological classification of thymoma and thymic carcinoma: refined definitions, histological criteria, and reporting. J Thorac Oncol (2014) 1.37
The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes. Hum Mol Genet (2002) 1.36
Clinical spectrum of tufted angiomas in childhood: a report of 13 cases and a review of the literature. Arch Dermatol (2010) 1.35
Haemangioma family burden: creation of a specific questionnaire. Acta Derm Venereol (2015) 1.34
Intensive conventional chemotherapy (ACVBP regimen) compared with standard CHOP for poor-prognosis aggressive non-Hodgkin lymphoma. Blood (2003) 1.34
Integrin α3 mutations with kidney, lung, and skin disease. N Engl J Med (2012) 1.33
SOX9 expression is a general marker of basal cell carcinoma and adnexal-related neoplasms. J Cutan Pathol (2008) 1.33
Toxic epidermal necrolysis, DRESS, AGEP: do overlap cases exist? Orphanet J Rare Dis (2012) 1.32
Origin and characterization of a human bipotent liver progenitor cell line. Gastroenterology (2004) 1.32
Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey. Medicine (Baltimore) (2012) 1.31
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations. Hum Mutat (2008) 1.31
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. Nat Genet (2009) 1.31
Plasmacytoid dendritic cells accumulate in spleens from chronically HIV-infected patients but barely participate in interferon-alpha expression. Blood (2009) 1.24
Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother. Pediatrics (2002) 1.21
Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome. J Invest Dermatol (2006) 1.20
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
Up-regulation of transient receptor potential canonical 1 (TRPC1) following sarco(endo)plasmic reticulum Ca2+ ATPase 2 gene silencing promotes cell survival: a potential role for TRPC1 in Darier's disease. Mol Biol Cell (2006) 1.17
Role of noncoding RNA ANRIL in genesis of plexiform neurofibromas in neurofibromatosis type 1. J Natl Cancer Inst (2011) 1.16
Darier disease : a disease model of impaired calcium homeostasis in the skin. Biochim Biophys Acta (2010) 1.14
Efficacy and safety of propranolol as first-line treatment for infantile hemangiomas. Eur J Pediatr (2010) 1.13
Cutaneous adverse events in renal transplant recipients receiving sirolimus-based therapy. Transplantation (2005) 1.11
Cutaneous Invasive Aspergillosis: Retrospective Multicenter Study of the French Invasive-Aspergillosis Registry and Literature Review. Medicine (Baltimore) (2015) 1.11
Minoxidil-induced trichostasis spinulosa of terminal hair. Arch Dermatol (2010) 1.11
A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E. Eur J Med Genet (2007) 1.11
Propranolol for treatment of ulcerated infantile hemangiomas. J Am Acad Dermatol (2011) 1.10
LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome. Hum Mol Genet (2003) 1.10
Fibroblastic rheumatism: fibromatosis rather than non-Langerhans cell histiocytosis. J Cutan Pathol (2009) 1.08
Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing. J Clin Invest (2010) 1.08
HLA-DRB1*01 associated with cutaneous hypersensitivity induced by nevirapine and efavirenz. AIDS (2008) 1.08
Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease. Hum Mutat (2013) 1.07