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Results: 1 to 20 of 270

Similar articles for PubMed (Select 22515571)

1.

An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred.

Yang CS, Lu Y, Farhi A, Nelson-Williams C, Kashgarian M, Glusac EJ, Lifton RP, Antaya RJ, Choate KA.

Pediatr Dermatol. 2012 Nov-Dec;29(6):725-31. doi: 10.1111/j.1525-1470.2012.01757.x. Epub 2012 Apr 20.

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.

Generalized severe junctional epidermolysis bullosa with congenital absence of skin in churra lambs.

Benavides J, Suárez-Vega A, Gutiérrez J, de la Hera S, Fuertes M, Delgado L, Fernández M, Ferreras MD, Arranz JJ, Pérez V.

Vet Dermatol. 2015 Jun 10. doi: 10.1111/vde.12226. [Epub ahead of print]

PMID:
26094555
4.

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
5.

Recessive Dystrophic Epidermolysis Bullosa: Advances in the Laboratory Leading to New Therapies.

Woodley DT, Chen M.

J Invest Dermatol. 2015 Jul;135(7):1705-7. doi: 10.1038/jid.2015.149. No abstract available.

PMID:
26066885
6.

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.

7.

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]

8.

Recessive dystrophic epidermolysis bullosa: a review of disease pathogenesis and update on future therapies.

Soro L, Bartus C, Purcell S.

J Clin Aesthet Dermatol. 2015 May;8(5):41-6. Review.

9.

[Unusual lung finding of massive alveolar filling with foamy macrophages in congenital epidermolysis bullosa after amnion fluid aspiration in 15-day-old newborn without any clinical signs of respiratory impairment].

Farkaš D, Švajdler Ml M, Fröhlichová L, Šprláková J, Iannaccone SF, Szép Z, Nyitrayová O.

Cesk Patol. 2015 Apr;51(2):89-93. Czech.

PMID:
25970721
10.

Epidermolysis bullosa of the esophagus--a case report.

Radić M, Hadnadjev D.

Vojnosanit Pregl. 2015 Mar;72(3):280-2.

PMID:
25958481
11.

Systemic granulocyte colony-stimulating factor (G-CSF) enhances wound healing in dystrophic epidermolysis bullosa (DEB): Results of a pilot trial.

Fine JD, Manes B, Frangoul H.

J Am Acad Dermatol. 2015 Jul;73(1):56-61. doi: 10.1016/j.jaad.2015.04.015. Epub 2015 May 5.

PMID:
25956659
12.

[Management of neonatal epidermolysis bullosa: clinical case].

Abad Moltó P, Ribera Soler M, Pellicer Tormo R.

Enferm Clin. 2015 May-Jun;25(3):143-5. doi: 10.1016/j.enfcli.2015.03.006. Epub 2015 May 1. Spanish. No abstract available.

PMID:
25937163
13.

Potential of Systemic Allogeneic Mesenchymal Stromal Cell Therapy for Children with Recessive Dystrophic Epidermolysis Bullosa.

Petrof G, Lwin SM, Martinez-Queipo M, Abdul-Wahab A, Tso S, Mellerio JE, Slaper-Cortenbach I, Boelens JJ, Tolar J, Veys P, Ofuya M, Peacock JL, Martinez AE, McGrath JA.

J Invest Dermatol. 2015 Apr 23. doi: 10.1038/jid.2015.158. [Epub ahead of print] No abstract available.

PMID:
25905587
14.

[Use of Therapeutic Contact Lenses for the Treatment of Recurrent Corneal Erosions due to Epidermolysis Bullosa Dystrophica].

Huebner S, Baertschi M, Beuschel R, Wyss M, Itin P, Goldblum D.

Klin Monbl Augenheilkd. 2015 Apr;232(4):380-1. doi: 10.1055/s-0034-1396331. Epub 2015 Apr 22. German. No abstract available.

PMID:
25902080
15.

DNA-based diagnosis of rare diseases in veterinary medicine: a 4.4 kb deletion of ITGB4 is associated with epidermolysis bullosa in Charolais cattle.

Peters M, Reber I, Jagannathan V, Raddatz B, Wohlsein P, Drögemüller C.

BMC Vet Res. 2015 Mar 4;11:48. doi: 10.1186/s12917-015-0366-0.

16.

First report of junctional epidermolysis bullosa (JEB) in the Italian draft horse.

Cappelli K, Brachelente C, Passamonti F, Flati A, Silvestrelli M, Capomaccio S.

BMC Vet Res. 2015 Mar 10;11:55. doi: 10.1186/s12917-015-0374-0.

17.

[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
18.

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
19.

Nutritional aspects of children and adolescents with epidermolysis bullosa: literature review.

Zidorio AP, Dutra ES, Leão DO, Costa IM.

An Bras Dermatol. 2015 Mar-Apr;90(2):217-23. doi: 10.1590/abd1806-4841.20153206.

20.

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
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