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Items: 1 to 20 of 33

1.

Junctional Epidermolysis Bullosa in a Neonate.

Srinivasan S, Sharawat IK, Saini L.

Indian Pediatr. 2018 Dec 15;55(12):1107-1108. No abstract available.

2.

A Silent COL17A1 Variant Alters Splicing and Causes Junctional Epidermolysis Bullosa.

Hoffmann J, Casetti F, Reimer A, Leppert J, Grüninger G, Has C.

Acta Derm Venereol. 2019 Apr 1;99(4):460-461. doi: 10.2340/00015555-3133. No abstract available.

3.

Targeted next-generation sequencing identifies a novel mutation of LAMB3 in a Chinese neonatal patient presented with junctional epidermolysis bullosa.

Wang H, Yang Y, Zhou J, Cao J, He X, Li L, Gao S, Mao B, Tian P, Zhou A.

Medicine (Baltimore). 2018 Dec;97(49):e13225. doi: 10.1097/MD.0000000000013225.

4.

Junctional epidermolysis bullosa without pyloric atresia due to a homozygous missense mutation in ITGB4.

Yoshida K, Sadamoto M, Sasaki T, Kubo A, Ishiko A.

J Dermatol. 2019 Feb;46(2):e61-e63. doi: 10.1111/1346-8138.14591. Epub 2018 Aug 6. No abstract available.

PMID:
30079450
5.

Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa.

Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Sotoudeh S, Jazayeri A, Guy A, Lovell PA, Liu L, Kariminejad A, McGrath JA, Zeinali S, Uitto J.

Hum Mutat. 2018 Oct;39(10):1349-1354. doi: 10.1002/humu.23592. Epub 2018 Aug 3.

PMID:
30016581
6.

Successful Multidisciplinary Treatment of Chronic Facial Wounds in Junctional Epidermolysis Bullosa.

Reimer A, Laszig R, Pfeiffer J, Eberwein P, Mittelviefhaus H, Bruckner-Tuderman L, Has C.

Acta Derm Venereol. 2018 Jul 11;98(7):711-712. doi: 10.2340/00015555-2934. No abstract available.

7.

Severe phenotype of junctional epidermolysis bullosa generalised intermediate type caused by homozygous COL17A1:c.505C>T (p.Arg169*) mutation.

Vaz SO, Dâmaso C, Liu L, Ozoemena L, Mota-Vieira L.

Eur J Dermatol. 2018 Jun 1;28(3):412-413. doi: 10.1684/ejd.2018.3279. No abstract available.

PMID:
29952287
8.

Gentamicin induces LAMB3 nonsense mutation readthrough and restores functional laminin 332 in junctional epidermolysis bullosa.

Lincoln V, Cogan J, Hou Y, Hirsch M, Hao M, Alexeev V, De Luca M, De Rosa L, Bauer JW, Woodley DT, Chen M.

Proc Natl Acad Sci U S A. 2018 Jul 10;115(28):E6536-E6545. doi: 10.1073/pnas.1803154115. Epub 2018 Jun 26.

9.

Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families.

Ahmad F, Shah K, Umair M, Jan A, Irfanullah, Khan S, Muhammad D, Basit S, Wakil SM, Ramzan K, Ahmad W.

Clin Exp Dermatol. 2018 Aug;43(6):752-755. doi: 10.1111/ced.13610. Epub 2018 May 23. No abstract available.

PMID:
29797489
10.

The Skin(ny) on Regenerating the Largest Organ to Save a Patient's Life.

Yi R.

Cell Stem Cell. 2018 Jan 4;22(1):14-15. doi: 10.1016/j.stem.2017.12.005.

11.

A Nonlethal Case of Junctional Epidermolysis Bullosa and Congenital Pyloric Atresia: Compound Heterozygosity in a Patient with a Novel Integrin Beta 4 Gene Mutation.

Ko L, Griggs CL, Mylonas KS, Masiakos PT, Kroshinsky D.

J Pediatr. 2018 Feb;193:261-264.e1. doi: 10.1016/j.jpeds.2017.09.023. Epub 2017 Dec 1.

PMID:
29198538
12.

A Novel Mutation in Junctional Plakoglobin Causing Lethal Congenital Epidermolysis Bullosa.

Rotemberg V, Garzon M, Lauren C, Iglesias A, Brachio SS, Aggarwal V, Stong N, Goldstein DB, Diacovo T.

J Pediatr. 2017 Dec;191:266-269.e1. doi: 10.1016/j.jpeds.2017.08.029.

PMID:
29173316
13.

Regeneration of the entire human epidermis using transgenic stem cells.

Hirsch T, Rothoeft T, Teig N, Bauer JW, Pellegrini G, De Rosa L, Scaglione D, Reichelt J, Klausegger A, Kneisz D, Romano O, Secone Seconetti A, Contin R, Enzo E, Jurman I, Carulli S, Jacobsen F, Luecke T, Lehnhardt M, Fischer M, Kueckelhaus M, Quaglino D, Morgante M, Bicciato S, Bondanza S, De Luca M.

Nature. 2017 Nov 16;551(7680):327-332. doi: 10.1038/nature24487. Epub 2017 Nov 8.

14.

Junctional Epidermolysis Bullosa (Non-Herlitz Type).

Bhinder MA, Arshad MW, Zahoor MY, Shehzad W, Tariq M, Shabbir MI.

J Coll Physicians Surg Pak. 2017 May;27(5):308-310. doi: 2619.

PMID:
28599695
15.

Amino acid duplication in the coiled-coil structure of collagen XVII alters its maturation and trimerization causing mild junctional epidermolysis bullosa.

Kroeger JK, Hofmann SC, Leppert J, Has C, Franzke CW.

Hum Mol Genet. 2017 Feb 1;26(3):479-488. doi: 10.1093/hmg/ddw404.

PMID:
28365758
16.

Application of whole exome sequencing in elucidating the phenotype and genotype spectrum of junctional epidermolysis bullosa: A preliminary experience of a tertiary care centre in India.

Yenamandra VK, Vellarikkal SK, Kumar M, Chowdhury MR, Jayarajan R, Verma A, Scaria V, Sivasubbu S, Ray SB, Dinda AK, Kabra M, Kaur P, Sharma VK, Sethuraman G.

J Dermatol Sci. 2017 Apr;86(1):30-36. doi: 10.1016/j.jdermsci.2016.12.020. Epub 2016 Dec 29.

PMID:
28087116
17.

The Role of Collagen IV and Cytokeratin 5/6 Immunohistochemistry in Identifying Subtypes of Hereditary Epidermolysis Bullosa.

Alhumidi A.

Appl Immunohistochem Mol Morphol. 2018 Sep;26(8):586-590. doi: 10.1097/PAI.0000000000000471.

PMID:
27941563
18.

Topical timolol for chronic wounds in patients with junctional epidermolysis bullosa.

Chiaverini C, Passeron T, Lacour JP.

J Am Acad Dermatol. 2016 Dec;75(6):e223-e224. doi: 10.1016/j.jaad.2016.08.005. No abstract available.

PMID:
27846969
19.

Carriers with functional null mutations in LAMA3 have localized enamel abnormalities due to haploinsufficiency.

Gostyńska KB, Yan Yuen W, Pasmooij AM, Stellingsma C, Pas HH, Lemmink H, Jonkman MF.

Eur J Hum Genet. 2016 Jan;25(1):94-99. doi: 10.1038/ejhg.2016.136. Epub 2016 Nov 9.

20.

Genotype, Clinical Course, and Therapeutic Decision Making in 76 Infants with Severe Generalized Junctional Epidermolysis Bullosa.

Hammersen J, Has C, Naumann-Bartsch N, Stachel D, Kiritsi D, Söder S, Tardieu M, Metzler M, Bruckner-Tuderman L, Schneider H.

J Invest Dermatol. 2016 Nov;136(11):2150-2157. doi: 10.1016/j.jid.2016.06.609. Epub 2016 Jun 29.

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