Works matching DE "SKIN disease genetics"

Results: 865

The Impact of Genetic Variations on Radiotherapy Toxicity in Breast Cancer Patients: A Meta-Analysis of Acute and Late Skin Adverse Effects.

Published in:

Cancers, 2025, v. 17, n. 11, p. 1880, doi. 10.3390/cancers17111880

By:

Cătană, Andreea;
Pătrășcanu, Andrada-Adelaida;
Martin, Daniela Laura;
Militaru, Mariela Sanda;
Iordănescu, Irina Ioana;
Țîpcu, Alexandru;
Achimaș-Cadariu, Patriciu;
Pîrlog, Lorin-Manuel

Publication type:

Article

Genetic analysis of Variegate Porphyria (VP) in Italy: Identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #596 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/596.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 448, doi. 10.1002/humu.9125

By:

Mauro D'Amato;
Margherita Bonuglia;
Simona Barile;
Daniela Griso;
Annelisa Macri;
Gianfranco Biolcati

Publication type:

Article

Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #595 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/595.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 447, doi. 10.1002/humu.9124

By:

Petra H.L. Schuilenga-Hut;
Pieter v.d. Vlies;
Marcel F. Jonkman;
Esmé Waanders;
Charles H.C.M. Buys;
Hans Scheffer

Publication type:

Article

Genetic analysis of Variegate Porphyria (VP) in Italy: Identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) geneCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #596 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/596.pdf

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 448, doi. 10.1002/humu.9125

By:

Mauro D'Amato;
Margherita Bonuglia;
Simona Barile;
Daniela Griso;
Annelisa Macri;
Gianfranco Biolcati

Publication type:

Article

Investigation of ectoparasites in budgerigar and canaries in Burdur city of Turkey.

Published in:

Veterinary Journal of Mehmet Akif Ersoy University, 2023, v. 8, n. 2, p. 89, doi. 10.24880/maeuvfd.1243440

By:

YILDIZ, Öner;
KÖSE, Onur

Publication type:

Article

Dowling-degos Disease: A Case Report.

Published in:

2021

By:

Erhan, Selma Şengiz;
Yüksel, Tülin;
Zerk, Pınar Engin

Publication type:

Case Study

Nevoid Basal Cell Carcinoma Syndrome (Gorlin-Goltz Syndrome): A Patient Showing Distinctive Dermoscopic Features: Case Report.

Published in:

2017

By:

YORULMAZ, Ahu;
ATILAN, Ahmet Uğur;
YALÇIN, Başak

Publication type:

Case Study

Photosensitivity in a patient with C9orf72 repeat expansion.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2016, v. 17, n. 3/4, p. 266, doi. 10.3109/21678421.2015.1125503

By:

Janssen, Paula;
Houben, Mark;
Hoff, Erik

Publication type:

Article

Follicular Mucinosis.

Published in:: British Journal of Dermatology, 1971, v. 84, n. 2, p. 193
Publication type:: Article

FOCAL KERATOSIS FOLLICULARIS OVERLYING DERMATOFIBROMA.

Published in:

British Journal of Dermatology, 1971, v. 84, n. 2, p. 167, doi. 10.1111/j.1365-2133.1971.tb06861.x

By:

Ackerman, A. Bernard;
Capland, Lewis;
Rywlin, Arkadi M.

Publication type:

Article

AN ELECTRON MICROSCOPE STUDY ON THE ACANTHOLYTIC AND DYSKERATOTIC PROCESSES IN DARIER'S DISEASE.

Published in:

British Journal of Dermatology, 1970, v. 82, n. 6, p. 561, doi. 10.1111/j.1365-2133.1970.tb06096.x

By:

Mann, Patricia R.;
Haye, K. R.

Publication type:

Article

DARIER'S DISEASE WITH CYSTIC CHANGES IN THE BONES.

Published in:

British Journal of Dermatology, 1966, v. 78, n. 2, p. 87, doi. 10.1111/j.1365-2133.1966.tb12179.x

By:

Thambiah, A. S.;
Rao, U. Sridhar;
Annamalai, Ruth;
David, C. M.

Publication type:

Article

KERATOSIS FOLLICULARIS (DARIER) AND FAMILIAL BENIGN CHRONIC PEMPHIGUS (HAILEY-HAILEY) IN THE SAME PATIENT.

Published in:

British Journal of Dermatology, 1965, v. 77, n. 1, p. 24, doi. 10.1111/j.1365-2133.1965.tb14562.x

By:

Ganor, S.;
Sagher, F.

Publication type:

Article

Haemorrhagic Hereditary Telangiectasia and Iatrogenic Acne.

Published in:: British Journal of Dermatology, 1964, v. 76, n. 11, p. 491
Publication type:: Article

ERUPTIVE TELANGIECTATIC CELLULAR NAEVL.

Published in:

British Journal of Dermatology, 1960, v. 72, n. 8/9, p. 302, doi. 10.1111/j.1365-2133.1960.tb13898.x

By:

Sanderson, K. V.

Publication type:

Article

DARIER'S DISEASE AND HAEMOGLOBIN H THALASSAEMIA IN A CHINESE.

Published in:

British Journal of Dermatology, 1959, v. 71, n. 10, p. 347, doi. 10.1111/j.1365-2133.1959.tb13361.x

By:

Teik, Khoo Oon;
Swee, Yeoh Oon;
Vella, F.

Publication type:

Article

KERATOSIS FOLLICULARIS SERPIGINOSA (LUTZ).

Published in:: British Journal of Dermatology, 1957, v. 69, n. 2, p. 72
Publication type:: Article

DYSKERATOSIS.

Published in:

British Journal of Dermatology, 1954, v. 66, n. 4, p. 160

By:

J. F. S.

Publication type:

Article

A novel frameshift SERPINB7 mutation in a Chinese case with Nagashima‐type palmoplantar keratosis: case report and review of the literature.

Published in:

2018

By:

Hua, S.;
Miao, X.;
Mao, W.;
Hua, L.;
Chen, J.;
Li, B.

Publication type:

Case Study

Atypical presentation of Dowling–Degos disease with novel and recurrent mutations in POFUT1.

Published in:

2018

By:

Zhong, W.;
Liu, J.;
Wang, H.;
Dou, X.;
Yu, B.;
Lin, Z.;
Yang, Y.

Publication type:

Case Study

Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families.

Published in:

Clinical & Experimental Dermatology, 2018, v. 43, n. 6, p. 752, doi. 10.1111/ced.13610

By:

Ahmad, F.;
Shah, K.;
Umair, M.;
Jan, A.;
Irfanullah;
Khan, S.;
Muhammad, D.;
Basit, S.;
Wakil, S. M.;
Ramzan, K.;
Ahmad, W.

Publication type:

Article

Autosomal recessive epidermolysis bullosa simplex: report of three cases from India.

Published in:

Clinical & Experimental Dermatology, 2017, v. 42, n. 7, p. 800, doi. 10.1111/ced.13182

By:

Yenamandra, V. K.;
Shamsudheen, K. V.;
Madhumita, R. C.;
Rijith, J.;
Ankit, V.;
Scaria, V.;
Sridhar, S.;
Kabra, M.;
Sharma, V. K.;
Sethuraman, G.

Publication type:

Article

A novel mutation in the RSPO4 gene in a patient with autosomal recessive anonychia.

Published in:

Clinical & Experimental Dermatology, 2017, v. 42, n. 3, p. 313, doi. 10.1111/ced.13052

By:

Khalil, S.;
Hayashi, R.;
Daou, L.;
Staiteieh, S. A.;
Abbas, O.;
Bergqvist, C.;
Nemer, G.;
Shimomura, Y.;
Kurban, M.

Publication type:

Article

Treatment of adult diffuse pityriasis lichenoides chronica with narrowband ultraviolet B: experience and literature review.

Published in:

Clinical & Experimental Dermatology, 2017, v. 42, n. 3, p. 303, doi. 10.1111/ced.13035

By:

Fernández‐Guarino, M.;
Aboin‐Gonzalez, S.;
Ciudad Blanco, C.;
Velázquez Tarjuelo, D.;
Lázaro Ochayta, P.

Publication type:

Article

Synthesis and activity of the salicylic acid ester of bakuchiol in psoriasis-surrogate keratinocytes and skin substitutes.

Published in:

Clinical & Experimental Dermatology, 2017, v. 42, n. 3, p. 251, doi. 10.1111/ced.13024

By:

Ma, S.;
Gobis, K.;
Swindell, W. R.;
Chaudhuri, R.;
Bojanowski, R.;
Bojanowski, K.

Publication type:

Article

Palmar fasciitis and polyarthritis, a rare paraneoplastic syndrome related to ovarian cancer.

Published in:

Clinical & Experimental Dermatology, 2017, v. 42, n. 3, p. 328, doi. 10.1111/ced.13071

By:

Marcke, C.;
Seront, E.;
Docquier, C.;
Filleul, B.

Publication type:

Article

Prodromal symptoms in hidradenitis suppurativa.

Published in:

Clinical & Experimental Dermatology, 2017, v. 42, n. 3, p. 261, doi. 10.1111/ced.13025

By:

Ring, H. C.;
Theut Riis, P.;
Zarchi, K.;
Miller, I. M.;
Saunte, D. M.;
Jemec, G. B.

Publication type:

Article

Peristomal psoriasis.

Published in:

Clinical & Experimental Dermatology, 2017, v. 42, n. 3, p. 282, doi. 10.1111/ced.13041

By:

Marshall, C.;
Woodmansey, S.;
Lyon, C. C.

Publication type:

Article

Two missense mutations in CYP4F22 in autosomal recessive congenital ichthyosis.

Published in:

Clinical & Experimental Dermatology, 2017, v. 42, n. 1, p. 98, doi. 10.1111/ced.12988

By:

Feng, C.;
Wang, H.;
Lee, M.;
Zhao, J.;
Lin, Z.;
Yang, Y.

Publication type:

Article

Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2.

Published in:

Clinical & Experimental Dermatology, 2016, v. 41, n. 6, p. 632, doi. 10.1111/ced.12857

By:

Castori, M.;
Morlino, S.;
Sana, M. E.;
Paradisi, M.;
Tadini, G.;
Angioni, A.;
Malacarne, M.;
Grammatico, P.;
Iascone, M.;
Forzano, F.

Publication type:

Article

Identification of mutations in U2 HR in two Chinese families with Marie Unna hereditary hypotrichosis.

Published in:

Clinical & Experimental Dermatology, 2016, v. 41, n. 2, p. 175, doi. 10.1111/ced.12711

By:

Zhong, Z.;
Zhong, M.;
Lu, Y.;
Lu, L.;
Wang, J.;
Xu, D.;
Wang, F.;
Xu, G.;
Chen, J.

Publication type:

Article

Possible association between actinic keratosis and the rs7208422 (c.917A→T, p.N306l) polymorphism of the EVER2 gene in patients without epidermodysplasia verruciformis.

Published in:

Clinical & Experimental Dermatology, 2015, v. 40, n. 3, p. 318, doi. 10.1111/ced.12506

By:

Kalinska‐Bienias, A.;
Kostrzewa, G.;
Malejczyk, M.;
Ploski, R.;
Majewski, S.

Publication type:

Article

Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient.

Published in:

Clinical & Experimental Dermatology, 2014, v. 39, n. 2, p. 158, doi. 10.1111/ced.12248

By:

Wang, H. J.;
Tang, Z. L.;
Lin, Z. M.;
Dai, L. L.;
Chen, Q.;
Yang, Y.

Publication type:

Article

Dermatological features identifying a new family with the cancer-prone Birt- Hogg- Dubé syndrome.

Published in:

Clinical & Experimental Dermatology, 2013, v. 38, n. 8, p. 931, doi. 10.1111/ced.12145

By:

Brehmer, F.;
Seitz, C. S.;
Schwarz, A.;
Engelke, C.;
Haenssle, H. A.;
Schön, M. P.;
Emmert, S.

Publication type:

Article

Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population.

Published in:

Clinical & Experimental Dermatology, 2013, v. 38, n. 8, p. 911, doi. 10.1111/ced.12148

By:

Israeli, S.;
Goldberg, I.;
Fuchs ‐ Telem, D.;
Bergman, R.;
Indelman, M.;
Bitterman ‐ Deutsch, O.;
Harel, A.;
Mashiach, Y.;
Sarig, O.;
Sprecher, E.

Publication type:

Article

Progressive symmetrical erythrokeratoderma: report of two Chinese families and evaluation for mutations in the loricrin, connexin 30.3 and connexin 31 genes.

Published in:

Clinical & Experimental Dermatology, 2013, v. 38, n. 8, p. 925, doi. 10.1111/ced.12135

By:

Guo, B. ‐ R.;
Sun, L. ‐ D.;
Cui, Y.;
Yang, S.;
Zhang, X. ‐ J.

Publication type:

Article

Ectodermal dysplasia-skin fragility syndrome: a novel mutation in the PKP1 gene.

Published in:

Clinical & Experimental Dermatology, 2013, v. 38, n. 7, p. 787, doi. 10.1111/ced.12109

By:

Hernández‐Martín, A.;
Torrelo, A.;
Ciria, S.;
Colmenero, I.;
Aguilar, A.;
Grimalt, R.;
González‐Sarmiento, R.

Publication type:

Article

Expression of pigment epithelium-derived factor in human cutaneous appendages.

Published in:

Clinical & Experimental Dermatology, 2013, v. 38, n. 6, p. 652, doi. 10.1111/ced.12066

By:

Li, C.‐M.;
Li, W.;
Man, X.‐Y.;
Liu, Z.‐G.;
Zheng, M.

Publication type:

Article

New mutation identified in two sisters with adult-onset erythropoietic protoporphyria.

Published in:

Clinical & Experimental Dermatology, 2013, v. 38, n. 6, p. 601, doi. 10.1111/ced.12076

By:

Azad, J.;
Brennan, P.;
Carmichael, A. J.

Publication type:

Article

Late-onset pretibial recessive dystrophic epidermolysis bullosa.

Published in:

Clinical & Experimental Dermatology, 2013, v. 38, n. 6, p. 630, doi. 10.1111/ced.12072

By:

Mahto, A.;
McGrath, J. A.;
Deroide, F.;
Rustin, M. H. A.

Publication type:

Article

Collodion baby and loricrin keratoderma: a case report and mutation analysis.

Published in:

Clinical & Experimental Dermatology, 2013, v. 38, n. 2, p. 147, doi. 10.1111/j.1365-2230.2012.04426.x

By:

Yeh, J. M.;
Yang, M. H.;
Chao, S. C.

Publication type:

Article

Reticulated pigmentary changes in a patient with a variant form of Lesch-Nyhan disease.

Published in:

Clinical & Experimental Dermatology, 2012, v. 37, n. 5, p. 569, doi. 10.1111/j.1365-2230.2011.04271.x

By:

Alonso-González, J.;
Hernández-Martín, A.;
García-Peñas, J. J.;
Colmenero, I.;
Torrelo, A.

Publication type:

Article

Adult-onset dyschromatoses.

Published in:

Clinical & Experimental Dermatology, 2012, v. 37, n. 2, p. 97, doi. 10.1111/j.1365-2230.2011.04161.x

By:

Vachiramon, V.;
Thadanipon, K.;
Rattanakaemakorn, P.

Publication type:

Article

The course of pregnancy and childbirth in three mothers with recessive dystrophic epidermolysis bullosa.

Published in:

Clinical & Experimental Dermatology, 2012, v. 37, n. 1, p. 10, doi. 10.1111/j.1365-2230.2011.04179.x

By:

Hanafusa, T.;
Tamai, K.;
Umegaki, N.;
Yamaguchi, Y.;
Fukuda, S.;
Nishikawa, Y.;
Yaegashi, N.;
Okuyama, R.;
McGrath, J. A.;
Katayama, I.

Publication type:

Article

Molecular evidence for the role of X-chromosome inactivation in linear presentation of X-linked hypohidrotic ectodermal dysplasia.

Published in:

Clinical & Experimental Dermatology, 2012, v. 37, n. 2, p. 186, doi. 10.1111/j.1365-2230.2011.04135.x

By:

Pavlovsky, M.;
Fuchs-Telem, D.;
Nousbeck, J.;
Sarig, O.;
Sprecher, E.

Publication type:

Article

Infancy- and childhood-onset dyschromatoses.

Published in:

Clinical & Experimental Dermatology, 2011, v. 36, n. 8, p. 833, doi. 10.1111/j.1365-2230.2011.04162.x

By:

Vachiramon, V.;
Thadanipon, K.;
Chanprapaph, K.

Publication type:

Article

Expression of interleukin-17 is correlated with interferon-α expression in cutaneous lesions of lupus erythematosus.

Published in:

Clinical & Experimental Dermatology, 2011, v. 36, n. 5, p. 512, doi. 10.1111/j.1365-2230.2010.03996.x

By:

Oh, S. H.;
Roh, H. J.;
Kwon, J. E.;
Lee, S. H.;
Kim, J. Y.;
Choi, H. J.;
Lim, B. J.

Publication type:

Article

Evidence for the absence of mutations at GJB3, GJB4 and LOR in progressive symmetrical erythrokeratodermia.

Published in:

Clinical & Experimental Dermatology, 2011, v. 36, n. 4, p. 399, doi. 10.1111/j.1365-2230.2010.03974.x

By:

Wei, S.;
Zhou, Y.;
Zhang, T. D.;
Huang, Z. M.;
Zhang, X. B.;
Zhu, H. L.;
Liang, B. H.;
Lin, L.;
Deng, L.

Publication type:

Article

Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis.

Published in:

Clinical & Experimental Dermatology, 2011, v. 36, n. 1, p. 88, doi. 10.1111/j.1365-2230.2010.03945.x

By:

Scott, C. A.;
O'Toole, E. A.;
Mohungoo, M. J.;
Messenger, A.;
Kelsell, D. P.

Publication type:

Article

Keratolytic winter erythema with facial involvement: a novel presentation.

Published in:

Clinical & Experimental Dermatology, 2009, v. 34, n. 2, p. 206, doi. 10.1111/j.1365-2230.2008.02825.x

By:

DeGiovanni, C. V.;
Farrant, P. B. J.;
Howell, S.;
Hull, P. R.;
Woollons, A.

Publication type:

Article