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| Title : Identification of Risk Factors for Gliptin-associated Bullous Pemphigoid among Diabetic Patients - Shalmon_2024_Acta.Derm.Venereol_104_adv26663 |
| Author(s) : Shalmon D , Bar-Ilan E , Peled A , Geller S , Bar J , Schwartz N , Sprecher E , Pavlovsky M |
| Ref : Acta Derm Venereol , 104 :adv26663 , 2024 |
| Abstract : Shalmon_2024_Acta.Derm.Venereol_104_adv26663 |
| ESTHER : Shalmon_2024_Acta.Derm.Venereol_104_adv26663 |
| PubMedSearch : Shalmon_2024_Acta.Derm.Venereol_104_adv26663 |
| PubMedID: 38576104 |
| Title : Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis - Malki_2020_Genet.Med__ |
| Author(s) : Malki L , Sarig O , Cesarato N , Mohamad J , Canter T , Assaf S , Pavlovsky M , Vodo D , Anis Y , Bihari O , Malovitski K , Gat A , Thiele H , White BEP , Samuelov L , Nanda A , Paller AS , Betz RC , Sprecher E |
| Ref : Genet Med , : , 2020 |
| Abstract : Malki_2020_Genet.Med__ |
| ESTHER : Malki_2020_Genet.Med__ |
| PubMedSearch : Malki_2020_Genet.Med__ |
| PubMedID: 32336749 |
| Title : 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 - Sarig_2013_Am.J.Med.Genet.A_161A_2204 |
| Author(s) : Sarig O , Goldsher D , Nousbeck J , Fuchs-Telem D , Cohen-Katsenelson K , Iancu TC , Manov I , Saada A , Sprecher E , Mandel H |
| Ref : American Journal of Medicine Genet A , 161A :2204 , 2013 |
| Abstract : Sarig_2013_Am.J.Med.Genet.A_161A_2204 |
| ESTHER : Sarig_2013_Am.J.Med.Genet.A_161A_2204 |
| PubMedSearch : Sarig_2013_Am.J.Med.Genet.A_161A_2204 |
| PubMedID: 23918762 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population - Israeli_2013_Clin.Exp.Dermatol_38_911 |
| Author(s) : Israeli S , Goldberg I , Fuchs-Telem D , Bergman R , Indelman M , Bitterman-Deutsch O , Harel A , Mashiach Y , Sarig O , Sprecher E |
| Ref : Clinical & Experimental Dermatologyatol , 38 :911 , 2013 |
| Abstract : Israeli_2013_Clin.Exp.Dermatol_38_911 |
| ESTHER : Israeli_2013_Clin.Exp.Dermatol_38_911 |
| PubMedSearch : Israeli_2013_Clin.Exp.Dermatol_38_911 |
| PubMedID: 23621129 |
| Title : Beneficial effect of acitretin in Chanarin-Dorfman syndrome - Israeli_2012_Clin.Exp.Dermatol_37_31 |
| Author(s) : Israeli S , Pessach Y , Sarig O , Goldberg I , Sprecher E |
| Ref : Clinical & Experimental Dermatologyatol , 37 :31 , 2012 |
| Abstract : Israeli_2012_Clin.Exp.Dermatol_37_31 |
| ESTHER : Israeli_2012_Clin.Exp.Dermatol_37_31 |
| PubMedSearch : Israeli_2012_Clin.Exp.Dermatol_37_31 |
| PubMedID: 21981352 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis - Israeli_2011_Am.J.Hum.Genet_88_482 |
| Author(s) : Israeli S , Khamaysi Z , Fuchs-Telem D , Nousbeck J , Bergman R , Sarig O , Sprecher E |
| Ref : American Journal of Human Genetics , 88 :482 , 2011 |
| Abstract : Israeli_2011_Am.J.Hum.Genet_88_482 |
| ESTHER : Israeli_2011_Am.J.Hum.Genet_88_482 |
| PubMedSearch : Israeli_2011_Am.J.Hum.Genet_88_482 |
| PubMedID: 21439540 |
| Gene_locus related to this paper: human-LIPN |
| Title : An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous family - Samuelov_2011_Br.J.Dermatol_164_1390 |
| Author(s) : Samuelov L , Fuchs-Telem D , Sarig O , Sprecher E |
| Ref : Br J Dermatol , 164 :1390 , 2011 |
| Abstract : Samuelov_2011_Br.J.Dermatol_164_1390 |
| ESTHER : Samuelov_2011_Br.J.Dermatol_164_1390 |
| PubMedSearch : Samuelov_2011_Br.J.Dermatol_164_1390 |
| PubMedID: 21332462 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Soreze 2009 - Oji_2010_J.Am.Acad.Dermatol_63_607 |
| Author(s) : Oji V , Tadini G , Akiyama M , Blanchet Bardon C , Bodemer C , Bourrat E , Coudiere P , DiGiovanna JJ , Elias P , Fischer J , Fleckman P , Gina M , Harper J , Hashimoto T , Hausser I , Hennies HC , Hohl D , Hovnanian A , Ishida-Yamamoto A , Jacyk WK , Leachman S , Leigh I , Mazereeuw-Hautier J , Milstone L , Morice-Picard F , Paller AS , Richard G , Schmuth M , Shimizu H , Sprecher E , Van Steensel M , Taieb A , Toro JR , Vabres P , Vahlquist A , Williams M , Traupe H |
| Ref : J Am Acad Dermatol , 63 :607 , 2010 |
| Abstract : Oji_2010_J.Am.Acad.Dermatol_63_607 |
| ESTHER : Oji_2010_J.Am.Acad.Dermatol_63_607 |
| PubMedSearch : Oji_2010_J.Am.Acad.Dermatol_63_607 |
| PubMedID: 20643494 |
| Title : A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families - Nahum_2009_Arch.Dermatol.Res_301_391 |
| Author(s) : Nahum S , Pasternack SM , Pforr J , Indelman M , Wollnik B , Bergman R , Nothen MM , Konig A , Khamaysi Z , Betz RC , Sprecher E |
| Ref : Arch Dermatol Res , 301 :391 , 2009 |
| Abstract : Nahum_2009_Arch.Dermatol.Res_301_391 |
| ESTHER : Nahum_2009_Arch.Dermatol.Res_301_391 |
| PubMedSearch : Nahum_2009_Arch.Dermatol.Res_301_391 |
| PubMedID: 18820939 |
| Gene_locus related to this paper: human-LIPH |
| Title : In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth - Pasternack_2009_J.Invest.Dermatol_129_2772 |
| Author(s) : Pasternack SM , von Kugelgen I , Muller M , Oji V , Traupe H , Sprecher E , Nothen MM , Janecke AR , Betz RC |
| Ref : Journal of Investigative Dermatology , 129 :2772 , 2009 |
| Abstract : Pasternack_2009_J.Invest.Dermatol_129_2772 |
| ESTHER : Pasternack_2009_J.Invest.Dermatol_129_2772 |
| PubMedSearch : Pasternack_2009_J.Invest.Dermatol_129_2772 |
| PubMedID: 19536142 |
| Gene_locus related to this paper: human-LIPH |