Published in Isr Med Assoc J on March 01, 2014
Extraintestinal manifestations in a large series of Italian inflammatory bowel disease patients. World J Gastroenterol (2014) 0.93
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
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
A case of paracetamol-induced acute generalized exanthematous pustulosis in a pregnant woman localized in the neck region. Skinmed (2004) 1.51
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
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
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
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 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
Loss of SNAP29 impairs endocytic recycling and cell motility. PLoS One (2010) 0.93
Hydrolytic and nonenzymatic functions of acetylcholinesterase comodulate hemopoietic stress responses. J Immunol (2006) 0.93
[Paget's disease of the breast]. Harefuah (2003) 0.93
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
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 missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy. J Invest Dermatol (2002) 0.92
RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. Am J Hum Genet (2009) 0.92
Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata. J Am Acad Dermatol (2005) 0.91
Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy. J Invest Dermatol (2003) 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
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
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
Population-specific association between a polymorphic variant in ST18, encoding a pro-apoptotic molecule, and pemphigus vulgaris. J Invest Dermatol (2012) 0.86
Bilharziasis cutanea tarda: a rare presentation of schistosomiasis. J Am Acad Dermatol (2003) 0.86
Clinical considerations and key issues in the management of patients with Erdheim-Chester Disease: a seven case series. BMC Med (2014) 0.85
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
Inherited desmosomal disorders. Cell Tissue Res (2014) 0.85
Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome. Acta Orthop (2009) 0.84
Clinical and histopathological results following TriPollar radiofrequency skin treatments. J Cosmet Laser Ther (2009) 0.84
Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis. J Bone Miner Metab (2011) 0.84
The Samd9L gene: transcriptional regulation and tissue-specific expression in mouse development. J Invest Dermatol (2011) 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
Telangiectasia macularis eruptiva perstans: unusual presentation and treatment. Skinmed (2006) 0.83
PEMPHIGUS: an acronym for a disease with multiple etiologies. Skinmed (2003) 0.83
Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population. J Invest Dermatol (2006) 0.83
HLA-G is associated with pemphigus vulgaris in Jewish patients. Hum Immunol (2004) 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
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
Distribution of CYP2C9 and VKORC1 risk alleles for warfarin sensitivity and resistance in the Israeli population. Curr Drug Saf (2010) 0.82
Disadhesion of epidermal keratinocytes: a histologic clue to palmoplantar keratodermas caused by DSG1 mutations. J Am Acad Dermatol (2010) 0.81
Disentangling the roots of inherited hair disorders. Nat Genet (2008) 0.81
Digenic inheritance in epidermolysis bullosa simplex. J Invest Dermatol (2012) 0.81
An unusual case of DRESS syndrome. J Dermatol Case Rep (2008) 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
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
Cole Disease Results from Mutations in ENPP1. Am J Hum Genet (2013) 0.80
Reversible functional connectivity disturbances during transient global amnesia. Ann Neurol (2014) 0.80
Erythrokeratodermia variabilis with erythema gyratum repens-like lesions. Pediatr Dermatol (2002) 0.80
Distribution of TPMT risk alleles for thiopurine [correction of thioupurine] toxicity in the Israeli population. Eur J Clin Pharmacol (2008) 0.80
A novel missense mutation affecting the human hairless thyroid receptor interacting domain 2 causes congenital atrichia. J Invest Dermatol (2002) 0.80
A novel protein derived from the MUC1 gene by alternative splicing and frameshifting. J Biol Chem (2004) 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
Patterned disorders in dermatology. Clin Dermatol (2011) 0.80
ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency. Eur J Endocrinol (2010) 0.80
Buschke-Ollendorff syndrome in a three-generation family: influence of a novel LEMD3 mutation to tropoelastin expression. Eur J Dermatol (2010) 0.80