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GGCX mutations in a patient with overlapping pseudoxanthoma elasticum/cutis laxa‐like phenotype.
Published in:
British Journal of Dermatology, 2021, v. 184, n. 6, p. 1170, doi. 10.1111/bjd.19576
By:
- Li, D.;
- Ryu, E.;
- Saeidian, A.H.;
- Youssefian, L.;
- Oliphant, E.;
- Terry, S.F.;
- Tong, P.L.;
- Uitto, J.;
- Haass, N.K.;
- Li, Q.
Publication type:
Article
Novel splice mutation in CDSN gene causing type b peeling skin syndrome.
Published in:
Journal of the European Academy of Dermatology & Venereology, 2022, v. 36, n. 6, p. e456, doi. 10.1111/jdv.17949
By:
- Navarro‐Navarro, I.;
- Jiménez‐Gallo, D.;
- de la Varga‐Martínez, R.;
- Villegas‐Romero, I.;
- Mora‐López, F.;
- Linares‐Barrios, M.;
- Youssefian, L.;
- Vahidnezhad, H.;
- Uitto, J.
Publication type:
Article
Ichthyosis, psoriasiform dermatitis, and recurrent fungal infections in patients with biallelic mutations in PERP.
Published in:
Journal of the European Academy of Dermatology & Venereology, 2022, v. 36, n. 3, p. 472, doi. 10.1111/jdv.17856
By:
- Youssefian, L.;
- Khodavaisy, S.;
- Khosravi‐Bachehmir, F.;
- Park, J.S.;
- Saeidian, A.H.;
- Mahmoudi, H.;
- Saffarian, Z.;
- Naraghi, Z.S.;
- Kamyab‐Hesari, K.;
- Zeinali, S.;
- Vahidnezhad, H.;
- Uitto, J.
Publication type:
Article
一项关于基因突变及其与不同鱼鳞病类型相关性的研究.
Published in:
British Journal of Dermatology, 2020, v. 182, n. 3, p. e114, doi. 10.1111/bjd.18845
By:
- Simpson, J.K.;
- Martinez‐Queipo, M.;
- Onoufriadis, A.;
- Tso, S.;
- Glass, E.;
- Liu, L.;
- Higashino, T.;
- Scott, W.;
- Tierney, C.;
- Simpson, M.A.;
- Desomchoke, R.;
- Youssefian, L.;
- SaeIdian, A.H.;
- Vahidnezhad, H.;
- Bisquera, A.;
- Ravenscroft, J.;
- Moss, C.;
- O'Toole, E.A.;
- Burrows, N.;
- Leech, S.
Publication type:
Article
Management of symptomatic mucosal involvement in paediatric pachyonychia congenita.
Published in:
British Journal of Dermatology, 2020, v. 182, n. 3, p. 536, doi. 10.1111/bjd.18849
By:
- Youssefian, L.;
- Vahidnezhad, H.
Publication type:
Article
A study of gene mutations and how they relate to the different types of ichthyosis.
Published in:
British Journal of Dermatology, 2020, v. 182, n. 3, p. e101, doi. 10.1111/bjd.18832
By:
- Simpson, J.K.;
- Martinez‐Queipo, M.;
- Onoufriadis, A.;
- Tso, S.;
- Glass, E.;
- Liu, L.;
- Higashino, T.;
- Scott, W.;
- Tierney, C.;
- Simpson, M.A.;
- Desomchoke, R.;
- Youssefian, L.;
- SaeIdian, A.H.;
- Vahidnezhad, H.;
- Bisquera, A.;
- Ravenscroft, J.;
- Moss, C.;
- O'Toole, E.A.;
- Burrows, N.;
- Leech, S.
Publication type:
Article
Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis.
Published in:
British Journal of Dermatology, 2020, v. 182, n. 3, p. 729, doi. 10.1111/bjd.18211
By:
- Simpson, J.K.;
- Martinez‐Queipo, M.;
- Onoufriadis, A.;
- Tso, S.;
- Glass, E.;
- Liu, L.;
- Higashino, T.;
- Scott, W.;
- Tierney, C.;
- Simpson, M.A.;
- Desomchoke, R.;
- Youssefian, L.;
- SaeIdian, A.H;
- Vahidnezhad, H.;
- Bisquera, A.;
- Ravenscroft, J.;
- Moss, C.;
- O'Toole, E.A.;
- Burrows, N.;
- Leech, S.
Publication type:
Article
Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation.
Published in:
British Journal of Dermatology, 2019, v. 181, n. 3, p. 584, doi. 10.1111/bjd.17276
By:
- Abdollahimajd, F.;
- Rajabi, F.;
- Shahidi‐Dadras, M.;
- Saket, S.;
- Youssefian, L.;
- Vahidnezhad, H.;
- Uitto, J.
Publication type:
Article
Erythrokeratoderma: a manifestation associated with multiple types of ichthyoses with different gene defects.
Published in:
2018
By:
- Youssefian, L.;
- Touati, A.;
- Vahidnezhad, H.;
- Saeidian, A. H.;
- Sotoudeh, S.;
- Zeinali, S.;
- Uitto, J.
Publication type:
Case Study
Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis.
Published in:
British Journal of Dermatology, 2017, v. 177, n. 2, p. 342, doi. 10.1111/bjd.15689
By:
- Uitto, J.;
- Youssefian, L.;
- Vahidnezhad, H.
Publication type:
Article
Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.
Published in:
British Journal of Dermatology, 2017, v. 177, n. 1, p. 319, doi. 10.1111/bjd.15570
By:
- Boyden, L.M.;
- Craiglow, B.G.;
- Hu, R.H.;
- Zhou, J.;
- Browning, J.;
- Eichenfield, L.;
- Lim, Y.L.;
- Luu, M.;
- Randolph, L.M.;
- Ginarte, M.;
- Fachal, L.;
- Rodriguez ‐ Pazos, L.;
- Vega, A.;
- Kramer, D.;
- Yosipovitch, G.;
- Vahidnezhad, H.;
- Youssefian, L.;
- Uitto, J.;
- Lifton, R.P.;
- Paller, A.S.
Publication type:
Article
Phenotypic heterogeneity in PIK3CA-related overgrowth spectrum.
Published in:
British Journal of Dermatology, 2016, v. 175, n. 4, p. 810, doi. 10.1111/bjd.14618
By:
- Vahidnezhad, H.;
- Youssefian, L.;
- Baghdadi, T.;
- Sotoudeh, S.;
- Tavassoli, A.;
- Zeinali, S.;
- Afsharaalam, S.;
- Uitto, J.
Publication type:
Article
First report of COL7A1 mutations in two patients with recessive dystrophic epidermolysis bullosa from Peru.
Published in:
Clinical & Experimental Dermatology, 2018, v. 43, n. 6, p. 719, doi. 10.1111/ced.13400
By:
- Saeidian, A. H.;
- Youssefian, L.;
- Rosales‐Solis, G. M.;
- Vahidnezhad, H.;
- Atanasova, V. S.;
- Uitto, J.;
- South, A. P.;
- Salas‐Alanis, J. C.
Publication type:
Article
Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico.
Published in:
Clinical & Experimental Dermatology, 2018, v. 43, n. 5, p. 579, doi. 10.1111/ced.13407
By:
- Saeidian, A. H.;
- Youssefian, L.;
- Moreno Trevino, M. G.;
- Fortuna, G.;
- Vahidnezhad, H.;
- Atanasova, V. S.;
- Uitto, J.;
- Salas‐Alanis, J. C.;
- South, A. P.
Publication type:
Article
Infantile systemic hyalinosis in an Iranian family with a mutation in the CMG2/ ANTXR2 gene.
Published in:
Clinical & Experimental Dermatology, 2015, v. 40, n. 6, p. 636, doi. 10.1111/ced.12616
By:
- Vahidnezhad, H.;
- Ziaee, V.;
- Youssefian, L.;
- Li, Q.;
- Sotoudeh, S.;
- Uitto, J.
Publication type:
Article

Found: 15