| Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification JD Fine, L Bruckner-Tuderman, RAJ Eady, EA Bauer, JW Bauer, C Has, ... Journal of the American Academy of Dermatology 70 (6), 1103-1126, 2014 | 1062 | 2014 |
| Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility C Has, JW Bauer, C Bodemer, MC Bolling, L Bruckner‐Tuderman, A Diem, ... British Journal of Dermatology 183 (4), 614-627, 2020 | 577 | 2020 |
| Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome F Jobard, B Bouadjar, F Caux, S Hadj-Rabia, C Has, F Matsuda, ... Human molecular genetics 12 (8), 925-935, 2003 | 287 | 2003 |
| Epidermolysis bullosa A Bardhan, L Bruckner-Tuderman, ILC Chapple, JD Fine, N Harper, ... Nature reviews Disease primers 6 (1), 78, 2020 | 283 | 2020 |
| Integrin α3 Mutations with Kidney, Lung, and Skin Disease C Has, G Spartà, D Kiritsi, L Weibel, A Moeller, V Vega-Warner, A Waters, ... New England Journal of Medicine 366 (16), 1508-1514, 2012 | 280 | 2012 |
| Kindlin-1 is a phosphoprotein involved in regulation of polarity, proliferation, and motility of epidermal keratinocytes C Herz, M Aumailley, C Schulte, U Schlotzer-Schrehardt, ... Journal of biological chemistry 281 (47), 36082-36090, 2006 | 168 | 2006 |
| Laminin 332 in junctional epidermolysis bullosa D Kiritsi, C Has, L Bruckner-Tuderman Cell adhesion & migration 7 (1), 135-141, 2013 | 147 | 2013 |
| Kindler syndrome: Extension of FERMT1 mutational spectrum and natural history C Has, D Castiglia, M del Rio, M Garcia Diez, E Piccinni, D Kiritsi, ... Human mutation 32 (11), 1204-1212, 2011 | 143 | 2011 |
| Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype–phenotype constellations in 41 patients with dystrophic epidermolysis bullosa JS Kern, J Kohlhase, L Bruckner-Tuderman, C Has Journal of investigative dermatology 126 (5), 1006-1012, 2006 | 135 | 2006 |
| Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa C Has, L Liu, MC Bolling, AV Charlesworth, M El Hachem, MJ Escámez, ... The British Journal of Dermatology 182 (3), 574, 2020 | 130 | 2020 |
| Epidermolysis bullosa: Molecular pathology of connective tissue components in the cutaneous basement membrane zone C Has, A Nyström, AH Saeidian, L Bruckner-Tuderman, J Uitto Matrix Biology 71, 313-329, 2018 | 111 | 2018 |
| The Conradi–Hünermann–Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism C Has, L Bruckner-Tuderman, D Müller, M Floeth, E Folkers, D Donnai, ... Human molecular genetics 9 (13), 1951-1955, 2000 | 111 | 2000 |
| APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa RJ Cho, LB Alexandrov, NY Den Breems, VS Atanasova, M Farshchian, ... Science Translational Medicine 10 (455), eaas9668, 2018 | 108 | 2018 |
| Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity M Pigors, D Kiritsi, S Krümpelmann, N Wagner, Y He, M Podda, ... Human molecular genetics 20 (9), 1811-1819, 2011 | 107 | 2011 |
| The international dystrophic epidermolysis bullosa patient registry: An online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations PC van den Akker, MF Jonkman, T Rengaw, L Bruckner‐Tuderman, ... Human mutation 32 (10), 1100-1107, 2011 | 106 | 2011 |
| Molecular basis of inherited skin-blistering disorders, and therapeutic implications M Aumailley, C Has, L Tunggal, L Bruckner-Tuderman Expert reviews in molecular medicine 8 (24), 1-21, 2006 | 103 | 2006 |
| Chronic colitis due to an epithelial barrier defect: the role of kindlin‐1 isoforms JS Kern, C Herz, E Haan, D Moore, S Nottelmann, T Von Lilien, P Greiner, ... The Journal of Pathology: A Journal of the Pathological Society of Great …, 2007 | 99 | 2007 |
| Forty‐two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large … JS Kern, G Grüninger, R Imsak, ML Müller, H Schumann, D Kiritsi, ... British Journal of Dermatology 161 (5), 1089-1097, 2009 | 97 | 2009 |
| Monoallelic mutations in the translation initiation codon of KLHL24 cause skin fragility Y He, K Maier, J Leppert, I Hausser, A Schwieger-Briel, L Weibel, ... The American Journal of Human Genetics 99 (6), 1395-1404, 2016 | 95 | 2016 |
| Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa D Kiritsi, JS Kern, H Schumann, J Kohlhase, C Has, L Bruckner-Tuderman Journal of medical genetics 48 (7), 450-457, 2011 | 95 | 2011 |
yinghong heDr. University Medical Center, Freiburg在 uniklinik-freiburg.de 的电子邮件经过验证
