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Items: 1 to 20 of 6060

1.

Vohwinkel Syndrome.

Saleh D, Tanner LS.

StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2018 Jan-.
2018 Oct 15.

2.

Cases of Ichthyosis and Hirsuties.

Pickells W.

Edinb Med Surg J. 1851 Oct 1;76(189):308-318. No abstract available.

PMID:
30332246
3.

Exome sequencing in a Chinese family reveals TTC9 mutation associated with keratitis-ichthyosis-deafness (KID) syndrome.

Wang X, Wu X, Zheng B, Chen Y, Zheng D.

Eur J Dermatol. 2018 Oct 15. doi: 10.1684/ejd.2018.3330. [Epub ahead of print] No abstract available.

PMID:
30325323
4.

Acquired Ichthyosis.

Dalcin D, Beecker J.

J Cutan Med Surg. 2018 Nov/Dec;22(6):608. doi: 10.1177/1203475418775374. No abstract available.

PMID:
30322306
5.

Revealing the mysteries of X-linked recessive ichthyosis.

Traupe H.

Br J Dermatol. 2018 Oct;179(4):821-822. doi: 10.1111/bjd.16821. No abstract available.

PMID:
30318799
6.

Compound heterozygous missense mutations p.Leu207Pro and p.Tyr544Cys in TGM1 cause a severe form of lamellar ichthyosis.

Takeda M, Nomura T, Sugiyama T, Miyauchi T, Suzuki S, Fujita Y, Shimizu H.

J Dermatol. 2018 Oct 10. doi: 10.1111/1346-8138.14675. [Epub ahead of print]

PMID:
30302839
7.

Dermatological aspects of the S2k guidelines on Down syndrome in childhood and adolescence.

Fölster-Holst R, Rohrer T, Jung AM.

J Dtsch Dermatol Ges. 2018 Oct;16(10):1289-1295. doi: 10.1111/ddg.13665.

PMID:
30300491
8.

Dermatologische Aspekte aus der S2k-Leitlinie zum Down-Syndrom im Kindes- und Jugendalter.

Fölster-Holst R, Rohrer T, Jung AM.

J Dtsch Dermatol Ges. 2018 Oct;16(10):1289-1296. doi: 10.1111/ddg.13665_g.

PMID:
30300478
9.

Novel MBTPS2 mutation causes a mild phenotype of ichthyosis follicularis with atrichia and photophobia syndrome in a Chinese pedigree.

Yang Z, Xu Z, Xing H, Ma L.

J Dermatol. 2018 Oct 8. doi: 10.1111/1346-8138.14660. [Epub ahead of print] No abstract available.

PMID:
30294811
10.

The role of PNPLA1 in ω-O-acylceramide synthesis and skin barrier function.

Hirabayashi T, Murakami M, Kihara A.

Biochim Biophys Acta Mol Cell Biol Lipids. 2018 Oct 2. pii: S1388-1981(18)30308-1. doi: 10.1016/j.bbalip.2018.09.010. [Epub ahead of print] Review.

PMID:
30290227
11.

Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma.

Smith FJD, Kreuser-Genis IM, Jury CS, Wilson NJ, Terron-Kwiatowski A, Zamiri M.

Clin Exp Dermatol. 2018 Oct 4. doi: 10.1111/ced.13800. [Epub ahead of print]

PMID:
30288772
12.

More than keratitis, ichthyosis, and deafness: multisystem effects of lethal GJB2 mutations.

Lilly E, Bunick CG, Maley AM, Zhang S, Spraker MK, Theos AJ, Vivar KL, Seminario-Vidal L, Bennett AE, Sidbury R, Ogawa Y, Akiyama M, Binder B, Hadj-Rabia S, Morotti RA, Glusac EJ, Choate KA, Richard G, Milstone LM.

J Am Acad Dermatol. 2018 Oct 1. pii: S0190-9622(18)32653-7. doi: 10.1016/j.jaad.2018.09.042. [Epub ahead of print]

PMID:
30287322
13.

A systematic review and meta-analysis of the regional and age-related differences of atopic dermatitis clinical characteristics.

Yew YW, Thyssen JP, Silverberg JI.

J Am Acad Dermatol. 2018 Oct 1. pii: S0190-9622(18)32645-8. doi: 10.1016/j.jaad.2018.09.035. [Epub ahead of print]

PMID:
30287309
14.

Symmetrical acral keratoderma revisited: Proposal for a new term, 'pigmented carpotarsal hyperkeratosis'.

Chen W, Song Z, Yang CC, Hao F.

J Eur Acad Dermatol Venereol. 2018 Oct 4. doi: 10.1111/jdv.15266. [Epub ahead of print] Review.

PMID:
30284750
15.

Netherton Syndrome: A Case Report and Review of Literature.

Saleem HMK, Shahid MF, Shahbaz A, Sohail A, Shahid MA, Sachmechi I.

Cureus. 2018 Jul 30;10(7):e3070. doi: 10.7759/cureus.3070.

16.

Novel insertion and a previously reported nonsense variant of ALOXE3 gene lead to autosomal recessive ichthyosis in two Balochi families.

Ijaz A, Jelani M, Panezai A, Rabbani T, Rasool IA, Ahmad J, Wali A.

Congenit Anom (Kyoto). 2018 Sep 30. doi: 10.1111/cga.12311. [Epub ahead of print] No abstract available.

PMID:
30270455
17.

Results of a nationwide epidemiologic survey of autosomal recessive congenital ichthyosis and ichthyosis syndromes in Japan.

Kurosawa M, Uehara R, Takagi A, Aoyama Y, Iwatsuki K, Amagai M, Nagai M, Nakamura Y, Inaba Y, Yokoyama K, Ikeda S.

J Am Acad Dermatol. 2018 Sep 26. pii: S0190-9622(18)32363-6. doi: 10.1016/j.jaad.2018.07.056. [Epub ahead of print]

PMID:
30268591
18.

Filaggrin gene polymorphisms in Iranian ichthyosis vulgaris and atopic dermatitis patients.

Hassani B, Isaian A, Shariat M, Mollanoori H, Sotoudeh S, Babaei V, Ziaali A, Teimourian S.

Int J Dermatol. 2018 Sep 23. doi: 10.1111/ijd.14213. [Epub ahead of print]

PMID:
30246302
19.

MEDNIK syndrome with a frame shift causing mutation in AP1S1 gene and literature review of the clinical features.

Incecik F, Bisgin A, Yılmaz M.

Metab Brain Dis. 2018 Sep 23. doi: 10.1007/s11011-018-0313-4. [Epub ahead of print]

PMID:
30244301
20.

Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome.

Böhm J, Laporte J.

Cell Calcium. 2018 Sep 3;76:1-9. doi: 10.1016/j.ceca.2018.07.008. [Epub ahead of print] Review.

PMID:
30243034

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