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Items: 1 to 20 of 117

1.

A new case of keratin 14 functional knockout causes severe recessive EBS and questions the haploinsufficiency model of Naegeli-Franceschetti-Jadassohn syndrome.

Titeux M, Décha A, Pironon N, Tonasso L, Gasc G, Mejía JE, Prost-Squarcioni C, Hovnanian A.

J Invest Dermatol. 2011 Oct;131(10):2131-3. doi: 10.1038/jid.2011.166. Epub 2011 Jul 7. No abstract available.

2.

Spontaneous fading of reticular pigmentation in Naegeli-Franceschetti-Jadassohn syndrome.

Itin PH, Burger B.

Dermatology. 2010;221(2):135-6. doi: 10.1159/000314693. Epub 2010 Jun 26. No abstract available.

3.

Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes.

Sprecher E, Itin P, Whittock NV, McGrath JA, Meyer R, DiGiovanna JJ, Bale SJ, Uitto J, Richard G.

J Invest Dermatol. 2002 Sep;119(3):692-8.

4.

Naegeli-Franceschetti-Jadassohn syndrome in a Saudi Arabian family.

Tubaigy SM, Hassan HM.

J Forensic Sci. 2014 Mar;59(2):555-8. doi: 10.1111/1556-4029.12316. Epub 2013 Nov 21. Review.

PMID:
24261749
6.

Natural history of the Naegeli-Franceschetti-Jadassohn syndrome.

Papini M.

J Am Acad Dermatol. 1994 Nov;31(5 Pt 1):830. No abstract available.

PMID:
7929942
7.

Mutational analysis on 16 Japanese population cases with epidermolysis bullosa simplex.

Minakawa S, Nakano H, Nakajima K, Matsuzaki Y, Takiyoshi N, Akasaka E, Rokunohe D, Sawamura D.

J Dermatol Sci. 2013 Dec;72(3):330-2. doi: 10.1016/j.jdermsci.2013.08.001. Epub 2013 Aug 12. No abstract available.

PMID:
23993914
8.

Digenic inheritance in epidermolysis bullosa simplex.

Padalon-Brauch G, Ben Amitai D, Vodo D, Harel A, Sarig O, Sprecher E, Mashiah J.

J Invest Dermatol. 2012 Dec;132(12):2852-4. doi: 10.1038/jid.2012.229. Epub 2012 Jul 26. No abstract available.

9.

Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.

Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, Hennies HC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G, Sprecher E.

Am J Hum Genet. 2006 Oct;79(4):724-30. Epub 2006 Aug 25.

10.

Coexistence of KRT14 and KRT5 mutations in a Polish patient with epidermolysis bullosa simplex.

Wertheim-Tysarowska K, Sota J, Kutkowska-Kaźmierczak A, Woźniak K, Bal J, Kowalewski C.

Br J Dermatol. 2014 Feb;170(2):468-9. doi: 10.1111/bjd.12624. No abstract available.

PMID:
24024749
11.

Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.

García M, Santiago JL, Terrón A, Hernández-Martín A, Vicente A, Fortuny C, De Lucas R, López JC, Cuadrado-Corrales N, Holguín A, Illera N, Duarte B, Sánchez-Jimeno C, Llames S, García E, Ayuso C, Martínez-Santamaría L, Castiglia D, De Luca N, Torrelo A, Mechan D, Baty D, Zambruno G, Escámez MJ, Del Río M.

Br J Dermatol. 2011 Sep;165(3):683-92. doi: 10.1111/j.1365-2133.2011.10428.x.

PMID:
21623745
12.

Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.

Arin MJ, Grimberg G, Schumann H, De Almeida H Jr, Chang YR, Tadini G, Kohlhase J, Krieg T, Bruckner-Tuderman L, Has C.

Br J Dermatol. 2010 Jun;162(6):1365-9. doi: 10.1111/j.1365-2133.2010.09657.x. Epub 2010 Feb 25.

PMID:
20199538
13.

A new pathogenic keratin 5 mutation in a Hindoestan family with localized epidermolysis bullosa simplex.

Flohil SC, Bolling MC, Kooi KA, Lemmink HH, Jonkman MF.

Eur J Dermatol. 2010 Jan-Feb;20(1):27-9. doi: 10.1684/ejd.2010.0804. Epub 2009 Oct 2.

PMID:
19797037
14.

Epidermolysis bullosa simplex with mottled pigmentation - mutation analysis proved the diagnosis in a four-generation pedigree.

Glàsz-Bóna A, Medvecz M, Virágh Z, Hatvani Z, Blazsek A, Kárpáti S.

Eur J Dermatol. 2010 Nov-Dec;20(6):698-700. doi: 10.1684/ejd.2010.1080. Epub 2010 Oct 5.

PMID:
20923750
15.

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):1897-1901. doi: 10.1016/j.jid.2016.05.106. Epub 2016 Jun 7. No abstract available.

16.

Digenic inheritance in epidermolysis bullosa simplex involving two novel mutations in KRT5 and KRT14.

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

Br J Dermatol. 2017 Jul;177(1):262-264. doi: 10.1111/bjd.15053. Epub 2017 Jun 7. No abstract available.

PMID:
27611893
17.

Keratins and epidermolysis bullosa simplex.

Khani P, Ghazi F, Zekri A, Nasri F, Behrangi E, Aghdam AM, Mirzaei H.

J Cell Physiol. 2018 Jan;234(1):289-297. doi: 10.1002/jcp.26898. Epub 2018 Aug 4. Review.

PMID:
30078200
18.

Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.

Bolling MC, Lemmink HH, Jansen GH, Jonkman MF.

Br J Dermatol. 2011 Mar;164(3):637-44. doi: 10.1111/j.1365-2133.2010.10146.x. Epub 2011 Feb 17.

PMID:
21375516
19.

[Mutation analysis of keratin 5 and keratin 14 genes in a family with epidermolysis bullosa simplex with mottled pigmentation].

Liu X, Xia L, Wang JX, Hao YJ, Yang J, Liu FQ, Guo R.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Dec;28(6):612-5. doi: 10.3760/cma.j.issn.1003-9406.2011.06.003. Chinese.

PMID:
22161089
20.

Distinct Impact of Two Keratin Mutations Causing Epidermolysis Bullosa Simplex on Keratinocyte Adhesion and Stiffness.

Homberg M, Ramms L, Schwarz N, Dreissen G, Leube RE, Merkel R, Hoffmann B, Magin TM.

J Invest Dermatol. 2015 Oct;135(10):2437-2445. doi: 10.1038/jid.2015.184. Epub 2015 May 11. Erratum in: J Invest Dermatol. 2016 Jun;136(6):1306.

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