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Items: 1 to 20 of 373

1.

"Nails Only" Phenotype and Partial Dominance of p.Glu170Lys Mutation in a Family with Epidermolysis Bullosa Simplex.

González-Cantero Á, Sánchez-Moya AI, Pérez-Hortet C, Martínez-Lorenzo E, Gómez-Dorado B, Schoendorff-Ortega C.

Pediatr Dermatol. 2017 Apr 19. doi: 10.1111/pde.13146. [Epub ahead of print]

PMID:
28425111
2.

Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report.

Kyrova J, Kopeckova L, Buckova H, Mrazova L, Vesely K, Hermanova M, Oslejskova H, Fajkusova L.

J Dermatol Case Rep. 2016 Nov 30;10(3):39-48. doi: 10.3315/jdcr.2016.1231. eCollection 2016 Nov 30. Review.

3.

Epidermolysis bullosa simplex complicated by allergic contact dermatitis caused by a hydrocolloid dressing.

Müller S, Kiritsi D.

Contact Dermatitis. 2017 Mar;76(3):185-186. doi: 10.1111/cod.12672. No abstract available.

PMID:
28220564
4.

Homozygous Nonsense Mutation and Additional Deletion of an Amino Acid in BPAG1e Causing Mild Localized Epidermolysis Bullosa Simplex.

He Y, Leppert J, Steinke H, Has C.

Acta Derm Venereol. 2017 May 8;97(5):657-659. doi: 10.2340/00015555-2618. No abstract available.

5.

Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex.

Lee JY, Liu L, Hsu CK, Aristodemou S, Ozoemena L, Ogboli M, Moss C, Martinez AE, Mellerio JE, McGrath JA.

J Invest Dermatol. 2017 Jan 19. pii: S0022-202X(17)30032-5. doi: 10.1016/j.jid.2017.01.004. [Epub ahead of print] No abstract available.

PMID:
28111128
6.

A novel <i>KRT5</i> mutation associated with generalized severe epidermolysis bullosa simplex in a 2-year-old Chinese boy.

Zhang J, Yan M, Liang J, Li M, Yao Z.

Exp Ther Med. 2016 Nov;12(5):2823-2826. Epub 2016 Sep 20.

7.

Epidermolysis bullosa simplex in sibling Eurasier dogs is caused by a PLEC non-sense variant.

Mauldin EA, Wang P, Olivry T, Henthorn PS, Casal ML.

Vet Dermatol. 2017 Feb;28(1):10-e3. doi: 10.1111/vde.12394. Epub 2016 Nov 7.

8.

The first familial cases of epidermolysis bullosa simplex, generalized severe with p.Asn176Ser in KRT5 revealing the clinical chronology.

Sugai T, Shinkuma S, Inafuku K, Takashima S, Nomura T, Fujita Y, Nakamura H, Shimizu H.

J Eur Acad Dermatol Venereol. 2017 May;31(5):e251-e253. doi: 10.1111/jdv.14036. Epub 2016 Nov 20. No abstract available.

PMID:
27868258
9.

Distinct phenotype of epidermolysis bullosa simplex with infantile migratory circinate erythema due to frameshift mutations in the V2 domain of KRT5.

Kumagai Y, Umegaki-Arao N, Sasaki T, Nakamura Y, Takahashi H, Ashida A, Tsunemi Y, Kawashima M, Shimizu A, Ishiko A, Nakamura K, Tsuchihashi H, Amagai M, Kubo A.

J Eur Acad Dermatol Venereol. 2017 May;31(5):e241-e243. doi: 10.1111/jdv.14005. Epub 2016 Nov 2. No abstract available.

PMID:
27730678
10.

Epidermolysis bullosa simplex with muscular dystrophy associated with <i>PLEC</i> deletion mutation.

Alvarez VC, Penttilä ST, Salutto VL, Udd B, Mazia CG.

Neurol Genet. 2016 Oct 11;2(6):e109. eCollection 2016 Dec.

11.

Epidermolysis Bullosa Simplex.

Pfendner EG, Bruckner AL.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
1998 Oct 7 [updated 2016 Oct 13].

12.

Digenic Inheritance in Epidermolysis Bullosa Simplex involving two novel mutations in KRT5 and KRT14.

Kim E, Harris A, Hyland V, Murrell D.

Br J Dermatol. 2016 Sep 9. doi: 10.1111/bjd.15053. [Epub ahead of print]

PMID:
27611893
13.

Treatment of symptomatic epidermolysis bullosa simplex with botulinum toxin in a pediatric patient.

Holahan HM, Farah RS, Ferguson NN, Paller AS, Legler AA.

JAAD Case Rep. 2016 Jul 14;2(3):259-60. doi: 10.1016/j.jdcr.2016.05.003. eCollection 2016 May. No abstract available.

14.

Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 Mutations.

Turcan I, Pasmooij AM, Van den Akker PC, Lemmink H, Sinke RJ, Jonkman MF.

JAMA Dermatol. 2016 Oct 1;152(10):1137-1141. doi: 10.1001/jamadermatol.2016.2268.

PMID:
27384765
15.

Kaposi varicelliform eruption in a patient with epidermolysis bullosa simplex generalized severe.

Huguen J, Fraitag S, Misery L, Abasq-Thomas C.

JAAD Case Rep. 2016 May 25;2(3):209-11. doi: 10.1016/j.jdcr.2016.03.008. eCollection 2016 May. No abstract available.

16.

KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family.

Vahidnezhad H, Youssefian L, Saeidian AH, Mozafari N, Barzegar M, Sotoudeh S, Daneshpazhooh M, Isaian A, Zeinali S, Uitto J.

J Invest Dermatol. 2016 Sep;136(9):1897-901. doi: 10.1016/j.jid.2016.05.106. Epub 2016 Jun 7. No abstract available.

PMID:
27283507
17.

In-frame Exon Skipping in KRT5 due to Novel Intronic Deletion Causes Epidermolysis Bullosa Simplex, Generalized Severe.

Gostyńska KB, Bremer J, van Dijk-Bos KK, Sinke R, Pasmooij AM, Jonkman MF.

Acta Derm Venereol. 2017 Jan 4;97(1):105-107. doi: 10.2340/00015555-2451. No abstract available.

18.

Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy.

Winter L, Türk M, Harter PN, Mittelbronn M, Kornblum C, Norwood F, Jungbluth H, Thiel CT, Schlötzer-Schrehardt U, Schröder R.

Acta Neuropathol Commun. 2016 Apr 27;4(1):44. doi: 10.1186/s40478-016-0314-7.

19.

Vulvar Exacerbation of Epidermolysis Bullosa Simplex: A Case Report.

Pettit KA, Elas DE, Stockdale CK.

J Low Genit Tract Dis. 2016 Jul;20(3):e38-9. doi: 10.1097/LGT.0000000000000205. No abstract available.

PMID:
27030882
20.

A Sporadic Neonatal Case of Epidermolysis Bullosa Simplex Generalized Intermediate with KRT5 and KRT14 Gene Mutations.

Wakiguchi H, Hasegawa S, Maeba S, Kimura S, Ito S, Tateishi H, Ueda K, Ohga S.

AJP Rep. 2016 Mar;6(1):e108-11. doi: 10.1055/s-0035-1570386.

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