Works matching IS 09066705 AND DT 2019 AND VI 28 AND IP 10

Results: 16

P63‐related disorders: Dermatological characteristics in 22 patients.

Published in:

Experimental Dermatology, 2019, v. 28, n. 10, p. 1190, doi. 10.1111/exd.14045

By:

Maillard, Alexia;
Alby, Caroline;
Gabison, Eric;
Doan, Serge;
Caux, Frédéric;
Bodemer, Christine;
Hadj‐Rabia, Smail

Publication type:

Article

A focus on rare and undiagnosed skin diseases.

Published in:

Experimental Dermatology, 2019, v. 28, n. 10, p. 1103, doi. 10.1111/exd.14035

By:

Bauer, Johann W.;
Schmuth, Matthias;
Bodemer, Christine

Publication type:

Article

CCL3, IL‐7, IL‐13 and IFNγ transcripts are increased in skin's biopsy of systemic sclerosis.

Published in:

Experimental Dermatology, 2019, v. 28, n. 10, p. 1172, doi. 10.1111/exd.13982

By:

Gonçalves, Rafaela Silva Guimarães;
Pereira, Michelly Cristiny;
Dantas, Andréa Tavares;
Almeida, Anderson Rodrigues de;
Rego, Moacyr J. B. M.;
Lima, Emerson Andrade;
Pitta, Ivan da Rocha;
Duarte, Angela Luzia Branco Pinto;
Pitta, Maira Galdino da Rocha

Publication type:

Article

Epidermolysis bullosa: Advances in research and treatment.

Published in:

Experimental Dermatology, 2019, v. 28, n. 10, p. 1176, doi. 10.1111/exd.13979

By:

Prodinger, Christine;
Reichelt, Julia;
Bauer, Johann W.;
Laimer, Martin

Publication type:

Article

Patients with congenital ichthyosis and TGM1 mutations overexpress other ARCI genes in the skin: Part of a barrier repair response?

Published in:

Experimental Dermatology, 2019, v. 28, n. 10, p. 1164, doi. 10.1111/exd.13813

By:

Zhang, Hanqian;
Ericsson, Maja;
Weström, Simone;
Vahlquist, Anders;
Virtanen, Marie;
Törmä, Hans

Publication type:

Article

A novel de novo mutation p.Ala428Asp in KRT5 gene as a cause of localized epidermolysis bullosa simplex.

Published in:

Experimental Dermatology, 2019, v. 28, n. 10, p. 1131, doi. 10.1111/exd.13788

By:

Stawczyk‐Macieja, Marta;
Wertheim‐Tysarowska, Katarzyna;
Jakubowski, Rafał;
Szczerkowska‐Dobosz, Aneta;
Krygier, Magdalena;
Wilkowska, Aleksandra;
Sawicka, Justyna;
Nowak, Wiesław;
Bal, Jerzy;
Nowicki, Roman

Publication type:

Article

Prevalence and pathogenesis of osteopenia and osteoporosis in epidermolysis bullosa: An evidence‐based review.

Published in:

Experimental Dermatology, 2019, v. 28, n. 10, p. 1122, doi. 10.1111/exd.13771

By:

Chen, Jessica Szu‐Chia;
Yang, Anes;
Murrell, Dédée F.

Publication type:

Article

Murine type VII collagen distorts outcome in human skin graft mouse model for dystrophic epidermolysis bullosa.

Published in:

Experimental Dermatology, 2019, v. 28, n. 10, p. 1153, doi. 10.1111/exd.13744

By:

Bremer, Jeroen;
Kramer, Duco;
Eichhorn, Daryll S.;
Gostyński, Antoni;
Diercks, Gilles F. H.;
Jonkman, Marcel F.;
van den Akker, Peter C.;
Pasmooij, Anna M. G.

Publication type:

Article

ATP6V0A2‐related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype.

Published in:

Experimental Dermatology, 2019, v. 28, n. 10, p. 1142, doi. 10.1111/exd.13723

By:

Beyens, Aude;
Moreno‐Artero, Ester;
Bodemer, Christine;
Cox, Helen;
Gezdirici, Alper;
Yilmaz Gulec, Elif;
Kahloul, Najoua;
Khau Van Kien, Philippe;
Ogur, Gonul;
Harroche, Annie;
Vasse, Marc;
Salhi, Aïcha;
Symoens, Sofie;
Hadj‐Rabia, Smail;
Callewaert, Bert

Publication type:

Article

Issue Information.

Published in:: Experimental Dermatology, 2019, v. 28, n. 10, p. 1101, doi. 10.1111/exd.13717
Publication type:: Article

Inherited epidermolysis bullosa: New diagnostics and new clinical phenotypes.

Published in:

Experimental Dermatology, 2019, v. 28, n. 10, p. 1146, doi. 10.1111/exd.13668

By:

Has, Cristina;
Fischer, Judith

Publication type:

Article

X‐linked ichthyosis: Clinical and molecular findings in 35 Italian patients.

Published in:

Experimental Dermatology, 2019, v. 28, n. 10, p. 1156, doi. 10.1111/exd.13667

By:

Diociaiuti, Andrea;
Angioni, Adriano;
Pisaneschi, Elisa;
Alesi, Viola;
Zambruno, Giovanna;
Novelli, Antonio;
El Hachem, May

Publication type:

Article

Life before and beyond blistering: The role of collagen XVII in epidermal physiology.

Published in:

Experimental Dermatology, 2019, v. 28, n. 10, p. 1135, doi. 10.1111/exd.13550

By:

Natsuga, Ken;
Watanabe, Mika;
Nishie, Wataru;
Shimizu, Hiroshi

Publication type:

Article

A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death.

Published in:

Experimental Dermatology, 2019, v. 28, n. 10, p. 1106, doi. 10.1111/exd.13542

By:

Easton, Jennifer A.;
Albuloushi, Ahmad K.;
Kamps, Miriam A. F.;
Brouns, Gladys H. M. R.;
Broers, Jos L. V.;
Coull, Barry J.;
Oji, Vincent;
van Geel, Michel;
van Steensel, Maurice A. M.;
Martin, Patricia E.

Publication type:

Article

Genome‐wide single nucleotide polymorphism‐based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa.

Published in:

Experimental Dermatology, 2019, v. 28, n. 10, p. 1118, doi. 10.1111/exd.13501

By:

Vahidnezhad, Hassan;
Youssefian, Leila;
Saeidian, Amir Hossein;
Zeinali, Sirous;
Touati, Andrew;
Abiri, Maryam;
Sotoudeh, Soheila;
Norouz‐zadeh, Sara;
Amirinezhad, Niloufar;
Mozafari, Nikoo;
Daneshpazhooh, Maryam;
Mahmoudi, Hamidreza;
Hamid, Mohammad;
Bradfield, Jonathan P.;
Kim, Cecilia E.;
Hakonarson, Hakon;
Uitto, Jouni

Publication type:

Article

Mutation in IL36RN impairs the processing and regulatory function of the interleukin‐36‐receptor antagonist and is associated with DITRA syndrome.

Published in:

Experimental Dermatology, 2019, v. 28, n. 10, p. 1114, doi. 10.1111/exd.13387

By:

Bal, Elodie;
Lim, Ai Ching;
Shen, Min;
Douangpanya, Jason;
Madrange, Marine;
Gazah, Rihab;
Tauber, Marie;
Beghdadi, Walid;
Casanova, Jean Laurent;
Bourrat, Emmanuelle;
Bachelez, Hervé;
Towne, Jennifer E.;
Smahi, Asma

Publication type:

Article