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Results: 1 to 20 of 172

Similar articles for PubMed (Select 21352278)

1.

Exon 87 skipping of the COL7A1 gene in dominant dystrophic epidermolysis bullosa.

Koga H, Hamada T, Ishii N, Fukuda S, Sakaguchi S, Nakano H, Tamai K, Sawamura D, Hashimoto T.

J Dermatol. 2011 May;38(5):489-92. doi: 10.1111/j.1346-8138.2010.01008.x. Epub 2010 Sep 20.

PMID:
21352278
2.

Identification of Two Homozygous Sequence Variants in the COL7A1 Gene Underlying Dystrophic Epidermolysis Bullosa by Whole-Exome Analysis in a Consanguineous Family.

Serafi R, Jelani M, Almramhi MM, Mohamoud HS, Ahmed S, Alkhiary YM, Zhang J, Yang H, Al-Aama JY.

Ann Hum Genet. 2015 Jun 23. doi: 10.1111/ahg.12123. [Epub ahead of print]

PMID:
26102279
3.

A COL7A1 variant leading to in frame skipping of exon 15 attenuates disease severity in recessive dystrophic epidermolysis bullosa.

Schwieger-Briel A, Weibel L, Chmel N, Leppert J, Kernland-Lang K, Grüninger G, Has C.

Br J Dermatol. 2015 Jun 15. doi: 10.1111/bjd.13945. [Epub ahead of print]

PMID:
26076072
4.

Dystrophic epidermolysis bullosa: a review.

Shinkuma S.

Clin Cosmet Investig Dermatol. 2015 May 26;8:275-84. doi: 10.2147/CCID.S54681. eCollection 2015. Review.

5.

Epidermolysis Bullosa Pruriginosa Excoriée: A Deceptive Pruritic Variant in Two Female Patients.

Gostyńska KB, Jonkman MF.

Acta Derm Venereol. 2015 Jun 3. doi: 10.2340/00015555-2152. [Epub ahead of print]

6.

[COL7A1 gene mutation analysis of dystrophic epidermolysis bullosa and prenatal diagnosis].

Liu N, Guo H, Kong X, Shi H, Yang Y, Wu Q, Zhao Z, Jiang M.

Zhonghua Yi Xue Za Zhi. 2015 Jan 27;95(4):277-82. Chinese.

PMID:
25877244
7.

High Local Concentrations of Intradermal MSCs Restore Skin Integrity and Facilitate Wound Healing in Dystrophic Epidermolysis Bullosa.

Kühl T, Mezger M, Hausser I, Handgretinger R, Bruckner-Tuderman L, Nyström A.

Mol Ther. 2015 Apr 10. doi: 10.1038/mt.2015.58. [Epub ahead of print]

PMID:
25858020
8.

Transient bullous dermolysis of the newborn: a novel de novo mutation in the COL7A1 gene.

Shi BJ, Zhu XJ, Liu Y, Hao J, Yan GF, Wang SP, Wang XY, Diao QC.

Int J Dermatol. 2015 Apr;54(4):438-42. doi: 10.1111/ijd.12704.

PMID:
25800346
9.

Characterization of dystrophic epidermolysis bullosa patients for collagen VII therapy.

Gorell ES, Nguyen N, Siprashvili Z, Marinkovich MP, Lane AT.

Br J Dermatol. 2015 Feb 21. doi: 10.1111/bjd.13737. [Epub ahead of print]

PMID:
25703736
10.

Epidermolysis Bullosa Pruriginosa: Case Series and Review of the Literature.

Kim WB, Alavi A, Pope E, Walsh S.

Int J Low Extrem Wounds. 2015 Feb 17. pii: 1534734615572469. [Epub ahead of print]

PMID:
25694436
11.

Epidermolysis bullosa pruriginosa: a systematic review exploring genotype-phenotype correlation.

Kim WB, Alavi A, Walsh S, Kim S, Pope E.

Am J Clin Dermatol. 2015 Apr;16(2):81-7. doi: 10.1007/s40257-015-0119-7.

PMID:
25690953
12.

[Recessive epidermolysis bullosa due to composite heterozygote mutations in the COL7A1 gene].

Abdou A, Daoui L, Charlesworth A, Chiaverini C, Algros MP, Puzenat E, Chantegret C, Vabres P, Lacour JP, Aubin F.

Ann Dermatol Venereol. 2015 May;142(5):346-9. doi: 10.1016/j.annder.2015.01.006. Epub 2015 Feb 12. French.

PMID:
25683012
13.

Epidermolysis bullosa pruriginosa: a case with a novel mutation and co-existent lichen amyloidosus.

Chen Q, Lee JS, Tey HL.

Indian J Dermatol Venereol Leprol. 2015 Jan-Feb;81(1):40-2. doi: 10.4103/0378-6323.148565.

14.

A novel mutation in the COL7A1 gene results in a unique phenotype of epidermolysis bullosa pruriginosa.

Ni C, Zhang J, Zhang H, Cheng RH, Liang JY, Li CX, Li M, Yao ZR.

J Eur Acad Dermatol Venereol. 2014 Dec 29. doi: 10.1111/jdv.12933. [Epub ahead of print] No abstract available.

PMID:
25556825
15.

Localised Dominant Dystrophic Epidermolysis Bullosa with a Novel de Novo Mutation in COL7A1 Diagnosed by Next-generation Sequencing.

Nagai M, Nagai H, Tominaga C, Sakaguchi Y, Jitsukawa O, Ohgo N, Nishigori C, Yamanishi K.

Acta Derm Venereol. 2015 May;95(5):629-31. doi: 10.2340/00015555-2019. No abstract available.

16.

Could exon skipping help dystrophic boys to run, hop, and jump?

Partridge T.

Mol Ther. 2014 Nov;22(11):1884-6. doi: 10.1038/mt.2014.189. No abstract available.

PMID:
25365985
17.

Splicing mutation in the COL7A1 gene mRNA exon 71 in a female patient with pretibial epidermolysis bullosa.

Kitazawa T, Kawakami T, Matsuoka M, Kimura S, Soma Y, Nakano H.

J Dermatol. 2014 Nov;41(11):1018-9. doi: 10.1111/1346-8138.12648. No abstract available.

PMID:
25346305
18.

Epidermolysis bullosa pruriginosa: two novel mutations (A2054V and G2233R) in the COL7A1 gene.

Shi BJ, Jiang Y, Gao T, Xiao S, Xue M, Liu Y, Hao J, Diao QC.

J Eur Acad Dermatol Venereol. 2014 Oct 3. doi: 10.1111/jdv.12683. [Epub ahead of print] No abstract available.

PMID:
25284350
19.

Case report. Novel and recurrent COL7A1 mutations in Chinese patients with dystrophic epidermolysis bullosa pruriginosa.

Zhu KJ, Zhu CY, Zhou Y, Fan YM.

Genet Mol Res. 2014 Sep 12;13(3):7587-92. doi: 10.4238/2014.September.12.26.

20.

Skipped exon in COL7A1 determines the clinical phenotypes of dystrophic epidermolysis bullosa.

Toyonaga E, Nishie W, Komine M, Murata S, Shinkuma S, Natsuga K, Nakamura H, Ohtsuki M, Shimizu H.

Br J Dermatol. 2015 Apr;172(4):1141-4. doi: 10.1111/bjd.13386. Epub 2015 Feb 25. No abstract available.

PMID:
25196227
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