Disseminated dermatophytic pseudomycetoma caused by Microsporum species.

Mycetoma: experience of 482 cases in a single center in Mexico. PLoS Negl Trop Dis (2014) 1.08

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

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

Carbapenem resistance among Klebsiella pneumoniae isolates: risk factors, molecular characteristics, and susceptibility patterns. Infect Control Hosp Epidemiol (2009) 2.14

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

Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin. J Invest Dermatol (2010) 1.71

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

Focal cortical dysfunction and blood-brain barrier disruption in patients with Postconcussion syndrome. J Clin Neurophysiol (2005) 1.46

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

Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred. J Hum Genet (2006) 1.38

Attributable mortality of nosocomial Acinetobacter bacteremia. Infect Control Hosp Epidemiol (2007) 1.29

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

Hyperbaric oxygen therapy can improve post concussion syndrome years after mild traumatic brain injury - randomized prospective trial. PLoS One (2013) 1.23

Hyperbaric oxygen induces late neuroplasticity in post stroke patients--randomized, prospective trial. PLoS One (2013) 1.22

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

Olmsted syndrome: mutilating palmoplantar keratoderma with periorificial keratotic plaques. J Am Acad Dermatol (2005) 1.11

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

Colorectal cancer screening: why immunochemical faecal occult blood test performs as well with either one or two samples. Dig Liver Dis (2012) 1.09

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

Rosiglitazone improves myocardial glucose uptake in patients with type 2 diabetes and coronary artery disease: a 16-week randomized, double-blind, placebo-controlled study. Diabetes (2005) 1.02

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 immigration delay disease: adermatoglyphia-inherited absence of epidermal ridges. J Am Acad Dermatol (2010) 0.98

Equipment failure: causes and consequences in endoscopic gynecologic surgery. J Minim Invasive Gynecol (2008) 0.96

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

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

Enhanced interferon regulatory factor 3 binding to the interleukin-23p19 promoter correlates with enhanced interleukin-23 expression in systemic lupus erythematosus. Arthritis Rheum (2012) 0.93

[Paget's disease of the breast]. Harefuah (2003) 0.93

Loss of SNAP29 impairs endocytic recycling and cell motility. PLoS One (2010) 0.93

A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy. J Invest Dermatol (2002) 0.92

First national surveillance of susceptibility of extended-spectrum beta-lactamase-producing Escherichia coli and Klebsiella spp. to antimicrobials in Israel. Diagn Microbiol Infect Dis (2007) 0.92

RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. Am J Hum Genet (2009) 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

A population-based comparison of immunochemical fecal occult blood tests for colorectal cancer screening. Gastroenterology (2013) 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

The hyper-IgE syndrome is not caused by a microdeletion syndrome. Immunogenetics (2007) 0.89

A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia. Am J Hum Genet (2011) 0.89

Ultrastructural abnormalities of respiratory cilia: a 25-year experience. Arch Pathol Lab Med (2008) 0.89

A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma. Am J Dermatopathol (2008) 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

Persistent BBB disruption may underlie alpha interferon-induced seizures. J Neurol (2005) 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

Rapid detection of homozygous mutations in congenital recessive ichthyosis. Arch Dermatol Res (2007) 0.86

Identification of a novel locus associated with congenital recessive ichthyosis on 12p11.2-q13. J Invest Dermatol (2005) 0.86

Bilharziasis cutanea tarda: a rare presentation of schistosomiasis. J Am Acad Dermatol (2003) 0.86

Mono-nucleotide repeats (MNRs): a neglected polymorphism for generating high density genetic maps in silico. Hum Genet (2004) 0.85

Focal asymmetric breast density: mammographic, sonographic and pathological correlation in 97 lesions--a call to restrain biopsies. Isr Med Assoc J (2007) 0.85

Clinical considerations and key issues in the management of patients with Erdheim-Chester Disease: a seven case series. BMC Med (2014) 0.85

Inherited desmosomal disorders. Cell Tissue Res (2014) 0.85

The Samd9L gene: transcriptional regulation and tissue-specific expression in mouse development. J Invest Dermatol (2011) 0.84

Clinical and histopathological results following TriPollar radiofrequency skin treatments. J Cosmet Laser Ther (2009) 0.84

A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families. Arch Dermatol Res (2008) 0.84

Inflammatory peeling skin syndrome caused a novel mutation in CDSN. Arch Dermatol Res (2011) 0.84

Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis. J Bone Miner Metab (2011) 0.84

Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome. Acta Orthop (2009) 0.84

Hypoparathyroidism, retardation, and dysmorphism syndrome: impaired early growth and increased susceptibility to severe infections due to hyposplenism and impaired polymorphonuclear cell functions. Pediatr Res (2007) 0.83

Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population. J Invest Dermatol (2006) 0.83

Punch biopsy of the human placental bed. Am J Obstet Gynecol (2002) 0.83

Telangiectasia macularis eruptiva perstans: unusual presentation and treatment. Skinmed (2006) 0.83

Topobiology of human pigmentation: P-cadherin selectively stimulates hair follicle melanogenesis. J Invest Dermatol (2013) 0.83

Abca12-mediated lipid transport and Snap29-dependent trafficking of lamellar granules are crucial for epidermal morphogenesis in a zebrafish model of ichthyosis. Dis Model Mech (2011) 0.82

Bacteremia and pyelonephritis caused by Lactobacillus jensenii in a patient with urolithiasis. Isr Med Assoc J (2008) 0.82

Distribution of CYP2C9 and VKORC1 risk alleles for warfarin sensitivity and resistance in the Israeli population. Curr Drug Saf (2010) 0.82

Partial treatment interruption of protease inhibitor-based highly active antiretroviral therapy regimens in HIV-infected children. J Acquir Immune Defic Syndr (2006) 0.82

KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome. J Invest Dermatol (2007) 0.82

Disadhesion of epidermal keratinocytes: a histologic clue to palmoplantar keratodermas caused by DSG1 mutations. J Am Acad Dermatol (2010) 0.81

Digenic inheritance in epidermolysis bullosa simplex. J Invest Dermatol (2012) 0.81

Histopathology of hypotrichosis with juvenile macular dystrophy. Am J Dermatopathol (2004) 0.81

A systematic review of US state environmental legislation and regulation with regards to the prevention of neurodevelopmental disabilities and asthma. Environ Health (2009) 0.81

Disentangling the roots of inherited hair disorders. Nat Genet (2008) 0.81

Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populations. J Am Acad Dermatol (2006) 0.81

Insulin-like growth factor-binding protein 7 regulates keratinocyte proliferation, differentiation and apoptosis. J Invest Dermatol (2009) 0.80

Influence of glutathione S-transferase A1, P1, M1, T1 polymorphisms on oral busulfan pharmacokinetics in children with congenital hemoglobinopathies undergoing hematopoietic stem cell transplantation. Pediatr Blood Cancer (2010) 0.80

A novel missense mutation affecting the human hairless thyroid receptor interacting domain 2 causes congenital atrichia. J Invest Dermatol (2002) 0.80

Erythrokeratodermia variabilis with erythema gyratum repens-like lesions. Pediatr Dermatol (2002) 0.80

In vivo analysis of trophoblast cell invasion in the human. Methods Mol Med (2006) 0.80

Patterned disorders in dermatology. Clin Dermatol (2011) 0.80

Distribution of TPMT risk alleles for thiopurine [correction of thioupurine] toxicity in the Israeli population. Eur J Clin Pharmacol (2008) 0.80