Works matching DE "SKIN disease genetics"

Results: 865

Two male patients with incontinentia pigmenti.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2010, v. 67, n. 2, p. 183, doi. 10.2298/VSP1002183M

By:

Minić, Snežana;
Novotnj, Gerd E. K.;
Medenica, Ljiljana;
Obradović, Miljana;
Stefanović, Bratislav;
Trpinac, Dušan

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

Involvement of epithelial Wntless in the regulation of postnatal hair follicle morphogenesis.

Published in:

Archives of Dermatological Research, 2015, v. 307, n. 9, p. 835, doi. 10.1007/s00403-015-1587-6

By:

Huang, Sixia;
Zhu, Xuming;
Tao, Yixin;
Sun, Qianqian;
Wang, Lei;
Li, Baojie;
He, Lin;
Guo, Xizhi;
Ma, Gang

Publication type:

Article

Sirtuins in dermatology: applications for future research and therapeutics.

Published in:

Archives of Dermatological Research, 2013, v. 305, n. 4, p. 269, doi. 10.1007/s00403-013-1320-2

By:

Serravallo, Melissa;
Jagdeo, Jared;
Glick, Sharon;
Siegel, Daniel;
Brody, Neil

Publication type:

Article

Keratinocyte-based cell assays: their potential pitfalls.

Published in:

Archives of Dermatological Research, 2012, v. 304, n. 9, p. 765, doi. 10.1007/s00403-012-1285-6

By:

Zupancic, Tina;
Ozir, Mateja;
Törmä, Hans;
Komel, Radovan;
Liovic, Mirjana

Publication type:

Article

A preliminary study of differentially expressed genes in expanded skin and normal skin: implications for adult skin regeneration.

Published in:

Archives of Dermatological Research, 2011, v. 303, n. 2, p. 125, doi. 10.1007/s00403-011-1123-2

By:

Yang, Mei;
Liang, Yimin;
Sheng, Lingling;
Shen, Guoxiong;
Liu, Kai;
Gu, Bin;
Meng, Fanjun;
Li, Qingfeng

Publication type:

Article

Novel mutations of the ATP2A2 gene in two families with Darier’s disease.

Published in:

Archives of Dermatological Research, 2009, v. 301, n. 1, p. 27, doi. 10.1007/s00403-008-0910-x

By:

Bing-Jun Shi;
Jie Feng;
Cui-Cui Ma;
Xiao-Ning Yan;
Wen-Bin Li;
Yu-Ping Wei;
Gang Hu;
Xiang-Lan Wang

Publication type:

Article

Cowden's Disease--Treatment of Cutaneous Lesions Using Carbon Dioxide Laser Vaporization: A Comparison of Conventional and Superpulsed Techniques.

Published in:

Journal of Dermatologic Surgery & Oncology, 1989, v. 15, n. 10, p. 1055, doi. 10.1111/j.1524-4725.1989.tb03122.x

By:

Wheeland, Ronald G.;
McGillis, S. Teri

Publication type:

Article

Stump the Experts.

Published in:

Journal of Dermatologic Surgery & Oncology, 1988, v. 14, n. 2, p. 135, doi. 10.1111/j.1524-4725.1988.tb03353.x

By:

Kouskoukis, Constantine E.

Publication type:

Article

Review of Relevant Literature.

Published in:

Journal of Dermatologic Surgery & Oncology, 1979, v. 5, n. 4, p. 273, doi. 10.1111/j.1524-4725.1979.tb00657.x

By:

Bennett, Richard G.

Publication type:

Article

Cowden's Disease: A Case Report and Review of the Literature.

Published in:

1978

By:

Wade, Thomas R.;
Kopf, Alfred W.

Publication type:

Report

UNDERSTANDING GENODERMATOSES - INSIGHTS FROM EPIDEMIOLOGICAL ANALYSIS ON A SELECTED CASE COHORT.

Published in:

Dermatovenerologia Journal, 2024, v. 69, n. 1, p. 7

By:

POPESCU, SILVIA;
KÖVÉR, ZOLTAN JANOS;
TOMA, DUMITRU;
GORECKI, GABRIEL-PETRE;
CARAZANU, LIVIU;
POPESCU, MIHAELA ANCA;
ORZAN, OLGUÞA ANCA;
GIURCÃNEANU, CÃLIN

Publication type:

Article

News and Notices.

Published in:: British Journal of Dermatology, 2016, v. 175, n. 4, p. 838, doi. 10.1111/bjd.15002
Publication type:: Article

News and Notices.

Published in:: British Journal of Dermatology, 2016, v. 175, n. 3, p. 652, doi. 10.1111/bjd.14978
Publication type:: Article

Darier disease in Israel: combined evaluation of genetic and neuropsychiatric aspects.

Published in:

British Journal of Dermatology, 2016, v. 174, n. 3, p. 562, doi. 10.1111/bjd.14220

By:

Dodiuk ‐ Gad, R.P.;
Cohen ‐ Barak, E.;
Khayat, M.;
Milo, H.;
Amariglio ‐ Diskin, L.;
Danial ‐ Faran, N.;
Sah, M.;
Ziv, M.;
Shani ‐ Adir, A.;
Amichai, B.;
Zlotogorski, A.;
Borochowitz, Z.;
Rozenman, D.;
Shalev, S.

Publication type:

Article

Nicastrin mutations in familial acne inversa impact keratinocyte proliferation and differentiation through the Notch and phosphoinositide 3-kinase/ AKT signalling pathways.

Published in:

British Journal of Dermatology, 2016, v. 174, n. 3, p. 522, doi. 10.1111/bjd.14223

By:

Xiao, X.;
He, Y.;
Li, C.;
Zhang, X.;
Xu, H.;
Wang, B.

Publication type:

Article

Noteworthy clinical findings of harlequin ichthyosis: digital autoamputation caused by cutaneous constriction bands in a case with novel ABCA12 mutations.

Published in:

British Journal of Dermatology, 2016, v. 174, n. 3, p. 689, doi. 10.1111/bjd.14228

By:

Tanahashi, K.;
Sugiura, K.;
Sato, T.;
Akiyama, M.

Publication type:

Article

Genome-wide linkage and exome sequencing analyses identify an initiation codon mutation of KRT5 in a unique Chinese family with generalized Dowling-Degos disease.

Published in:

British Journal of Dermatology, 2016, v. 174, n. 3, p. 663, doi. 10.1111/bjd.14178

By:

Li, M.;
Wang, J.;
Zhang, J.;
Ni, C.;
Li, X.;
Liang, J.;
Cheng, R.;
Li, Z.;
Yao, Z.

Publication type:

Article

Heritability of naevus pattern.

Published in:

British Journal of Dermatology, 2016, v. 174, n. 2, p. 265, doi. 10.1111/bjd.14386

By:

Longo, C.;
Ribero, S.

Publication type:

Article

Olmsted syndrome in an Indian male with a new de novo mutation in TRPV3.

Published in:

British Journal of Dermatology, 2016, v. 174, n. 1, p. 209, doi. 10.1111/bjd.13910

By:

Agarwala, M.K.;
George, R.;
Pramanik, R.;
McGrath, J.A.

Publication type:

Article

p53 activity contributes to defective interfollicular epidermal differentiation in hyperproliferative murine skin.

Published in:

British Journal of Dermatology, 2016, v. 174, n. 1, p. 204, doi. 10.1111/bjd.14048

By:

Cottle, D.L.;
Kretzschmar, K.;
Gollnick, H.P.;
Quist, S.R.

Publication type:

Article

Nails - more than just an ectodermal appendage: the genetics behind isolated nail disorders.

Published in:

British Journal of Dermatology, 2015, v. 173, n. 4, p. 886, doi. 10.1111/bjd.14148

By:

Betz, R.C.

Publication type:

Article

Heterogeneity in the properties of mutant secreted lymphocyte antigen 6/urokinase receptor-related protein 1 ( SLURP1) in Mal de Meleda.

Published in:

British Journal of Dermatology, 2015, v. 173, n. 4, p. 1066, doi. 10.1111/bjd.13868

By:

Adeyo, O.;
Oberer, M.;
Ploug, M.;
Fong, L.G.;
Young, S.G.;
Beigneux, A.P.

Publication type:

Article

Replication of risk variants for psoriasis in a Southern European case-control study: correlation with clinical subphenotypes.

Published in:

British Journal of Dermatology, 2015, v. 173, n. 2, p. 552, doi. 10.1111/bjd.13625

By:

Masouri, S.;
Stefanaki, I.;
Kypreou, K.P.;
Kodela, E.;
Bethimoutis, G.;
Ntritsos, G.;
Evangelou, E.;
Stratigos, A.J.;
Antoniou, C.

Publication type:

Article

The novel GJB3 mutation p.Thr202Asn in the M4 transmembrane domain underlies erythrokeratodermia variabilis.

Published in:

British Journal of Dermatology, 2015, v. 173, n. 1, p. 309, doi. 10.1111/bjd.13641

By:

Sugiura, K.;
Arima, M.;
Matsunaga, K.;
Akiyama, M.

Publication type:

Article

Familial pachyonychia congenita with steatocystoma multiplex and multiple abscesses of the scalp due to the p.Asn92Ser mutation in keratin 17.

Published in:

British Journal of Dermatology, 2014, v. 171, n. 6, p. 1565, doi. 10.1111/bjd.13123

By:

Ofaiche, J.;
Duchatelet, S.;
Fraitag, S.;
Nassif, A.;
Nougué, J.;
Hovnanian, A.

Publication type:

Article

A mouse organotypic tissue culture model for autosomal recessive congenital ichthyosis.

Published in:

British Journal of Dermatology, 2014, v. 171, n. 6, p. 1347, doi. 10.1111/bjd.13308

By:

Rosenberger, S.;
Dick, A.;
Latzko, S.;
Hausser, I.;
Stark, H.‐J.;
Rauh, M.;
Schneider, H.;
Krieg, P.

Publication type:

Article

Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis.

Published in:

British Journal of Dermatology, 2014, v. 171, n. 4, p. 847, doi. 10.1111/bjd.13076

By:

Mizuno, O.;
Nomura, T.;
Suzuki, S.;
Takeda, M.;
Ohguchi, Y.;
Fujita, Y.;
Nishie, W.;
Sugiura, K.;
Akiyama, M.;
Shimizu, H.

Publication type:

Article

Heterozygous frameshift mutation in keratin 5 in a family with Galli- Galli disease.

Published in:

British Journal of Dermatology, 2014, v. 170, n. 6, p. 1362, doi. 10.1111/bjd.12813

By:

Reisenauer, A.K.;
Wordingham, S.V.;
York, J.;
Kokkonen, E.W.J.;
Mclean, W.H.I.;
Wilson, N.J.;
Smith, F.J.D.

Publication type:

Article

What's in a disease name?

Published in:

2014

By:

Sprecher, E.

Publication type:

Editorial

The association of host and genetic melanoma risk factors with Breslow thickness in the Western Australian Melanoma Health Study.

Published in:

British Journal of Dermatology, 2014, v. 170, n. 4, p. 851, doi. 10.1111/bjd.12829

By:

Cadby, G.;
Ward, S.V.;
Cole, J.M.;
Moses, E.K.;
Millward, M.;
Palmer, L.J.

Publication type:

Article

Coexistence of KRT14 and KRT5 mutations in a Polish patient with epidermolysis bullosa simplex.

Published in:

British Journal of Dermatology, 2014, v. 170, n. 2, p. 468, doi. 10.1111/bjd.12624

By:

Wertheim‐Tysarowska, K.;
Sota, J.;
Kutkowska‐Kaźmierczak, A.;
Woźniak, K.;
Bal, J.;
Kowalewski, C.

Publication type:

Article

Genome-wide linkage scan for psoriasis susceptibility loci in multiplex Tunisian families.

Published in:

British Journal of Dermatology, 2013, v. 168, n. 3, p. 583, doi. 10.1111/bjd.12050

By:

Ammar, M.;
Bouchlaka‐Souissi, C.;
Helms, C.A.;
Zaraa, I.;
Jordan, C.T.;
Anbunathan, H.;
Bouhaha, R.;
Kouidhi, S.;
Doss, N.;
Dhaoui, R.;
Ben Osman, A.;
Ben Ammar El Gaied, A.;
Marrakchi, R.;
Mokni, M.;
Bowcock, A.M.

Publication type:

Article

Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome.

Published in:

British Journal of Dermatology, 2012, v. 167, n. 2, p. 440, doi. 10.1111/j.1365-2133.2012.11115.x

By:

Lai-Cheong, J.E.;
Sethuraman, G.;
Ramam, M.;
Stone, K.;
Simpson, M.A.;
McGrath, J.A.

Publication type:

Article

FGFR3, PIK3CA and RAS mutations in benign lichenoid keratosis.

Published in:

British Journal of Dermatology, 2012, v. 166, n. 4, p. 784, doi. 10.1111/j.1365-2133.2011.10788.x

By:

Groesser, L.;
Herschberger, E.;
Landthaler, M.;
Hafner, C.

Publication type:

Article

Porokeratosis palmaris, plantaris et disseminata vs. porokeratosis of Mibelli.

Published in:

British Journal of Dermatology, 2012, v. 166, n. 3, p. 681, doi. 10.1111/j.1365-2133.2011.10626.x

By:

Happle, R.

Publication type:

Article

Desmosomal genodermatoses.

Published in:

British Journal of Dermatology, 2012, v. 166, n. 1, p. 36, doi. 10.1111/j.1365-2133.2011.10640.x

By:

Petrof, G.;
Mellerio, J.E.;
McGrath, J.A.

Publication type:

Article

Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation.

Published in:

British Journal of Dermatology, 2011, v. 165, n. 6, p. 1290, doi. 10.1111/j.1365-2133.2011.10552.x

By:

Akasaka, E.;
Nakano, H.;
Nakano, A.;
Toyomaki, Y.;
Takiyoshi, N.;
Rokunohe, D.;
Nishikawa, Y.;
Korekawa, A.;
Matsuzaki, Y.;
Mitsuhashi, Y.;
Sawamura, D.

Publication type:

Article

A novel mutation in CDSN causes peeling skin disease in a patient from Morocco.

Published in:

British Journal of Dermatology, 2011, v. 165, n. 5, p. 1152, doi. 10.1111/j.1365-2133.2011.10529.x

By:

Mazereeuw-Hautier, J.;
Leclerc, E.A.;
Simon, M.;
Serre, G.;
Jonca, N.

Publication type:

Article

Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.

Published in:

British Journal of Dermatology, 2011, v. 165, n. 3, p. 683, doi. 10.1111/j.1365-2133.2011.10428.x

By:

García, M.;
Santiago, J. L.;
Terrón, A.;
Hernández-Martín, A.;
Vicente, A.;
Fortuny, C.;
De Lucas, R.;
López, J. C.;
Cuadrado-Corrales, N.;
Holguín, A.;
Illera, N.;
Duarte, B.;
Sánchez-Jimeno, C.;
Llames, S.;
García, E.;
Ayuso, C.;
Martínez-Santamaría, L.;
Castiglia, D.;
De Luca, N.;
Torrelo, A.

Publication type:

Article

Late-onset inversa recessive dystrophic epidermolysis bullosa caused by glycine substitutions in collagen type VII.

Published in:

British Journal of Dermatology, 2011, v. 164, n. 5, p. 1104, doi. 10.1111/j.1365-2133.2011.10230.x

By:

Leverkus, M.;
Ambach, A.;
Hoefeld-Fegeler, M.;
Kohlhase, J.;
Schmidt, E.;
Schumann, H.;
Has, C.;
Gollnick, H.

Publication type:

Article

Preliminary evidence for involvement of the tumour suppressor gene CHD5 in a family with cutaneous melanoma.

Published in:

British Journal of Dermatology, 2011, v. 164, n. 5, p. 1010, doi. 10.1111/j.1365-2133.2011.10223.x

By:

Lang, J.;
Tobias, E. S.;
MacKie, R.

Publication type:

Article

Narrowband ultraviolet B inhibits innate cytosolic double-stranded RNA receptors in psoriatic skin and keratinocytes.

Published in:

British Journal of Dermatology, 2011, v. 164, n. 4, p. 838, doi. 10.1111/j.1365-2133.2010.10169.x

By:

Rácz, E.;
Prens, E. P.;
Kant, M.;
Florencia, E.;
Jaspers, N. G.;
Laman, J. D.;
de Ridder, D.;
van der Fits, L.

Publication type:

Article

Filaggrin polymorphism P478S, IgE level, and atopic phenotypes.

Published in:

British Journal of Dermatology, 2011, v. 164, n. 4, p. 791, doi. 10.1111/j.1365-2133.2011.10212.x

By:

Wang, I. J.;
Lin, T. J.;
Kuo, C. F.;
Lin, S. L.;
Lee, Y. L.;
Chen, P. C.

Publication type:

Article

A paradigm for phototherapy clinical-genetic research Commentaries.

Published in:

British Journal of Dermatology, 2010, v. 163, n. 5, p. 901, doi. 10.1111/j.1365-2133.2010.10062.x

By:

Anstey, A. V.

Publication type:

Article

Clinical and genetic predictors of response to narrowband ultraviolet B for the treatment of chronic plaque psoriasis C. Ryan et al. Predictors of response to NB-UVB for psoriasis.

Published in:

British Journal of Dermatology, 2010, v. 163, n. 5, p. 1056, doi. 10.1111/j.1365-2133.2010.09985.x

By:

Ryan, C.;
Renfro, L.;
Collins, P.;
Kirby, B.;
Rogers, S.

Publication type:

Article

A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome in a Chinese family.

Published in:

2010

By:

Ding, Y. G.;
Wang, J. Y.;
Qiao, J. J.;
Mao, X. H.;
Cai, S. Q.

Publication type:

Letter

Mapping of a novel locus for an autosomal recessive form of palmoplantar keratoderma on chromosome 3q27.2-q29.

Published in:

British Journal of Dermatology, 2010, v. 163, n. 4, p. 711, doi. 10.1111/j.1365-2133.2010.09881.x

By:

Khan, S.;
Muzaffar, S.;
Tariq, M.;
Khan, A.;
Basit, S.;
Ahmad, W.

Publication type:

Article