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Results: 1 to 20 of 195

1.

Novel and recurrent KIND1 mutations in two patients with Kindler syndrome and severe mucosal involvement.

Mansur AT, Elcioglu NH, Aydingöz IE, Akkaya AD, Serdar ZA, Herz C, Bruckner-Tuderman L, Has C.

Acta Derm Venereol. 2007;87(6):563-5. No abstract available.

PMID:
17989907
[PubMed - indexed for MEDLINE]
Free Article
2.

A novel frameshift mutation in the KIND1 gene in Turkish siblings with Kindler syndrome.

Kaçar N, Semerci N, Ergin S, Pascucci M, Zambruno G, Castiglia D.

Br J Dermatol. 2008 Jun;158(6):1375-7. doi: 10.1111/j.1365-2133.2008.08553.x. Epub 2008 Apr 10. No abstract available.

PMID:
18410424
[PubMed - indexed for MEDLINE]
3.

A novel 3017-bp deletion mutation in the FERMT1 (KIND1) gene in a Chinese family with Kindler syndrome.

Zhou C, Song S, Zhang J.

Br J Dermatol. 2009 May;160(5):1119-22. doi: 10.1111/j.1365-2133.2009.09052.x. Epub 2009 Mar 9. No abstract available.

PMID:
19292718
[PubMed - indexed for MEDLINE]
4.

Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene.

Has C, Wessagowit V, Pascucci M, Baer C, Didona B, Wilhelm C, Pedicelli C, Locatelli A, Kohlhase J, Ashton GH, Tadini G, Zambruno G, Bruckner-Tuderman L, McGrath JA, Castiglia D.

J Invest Dermatol. 2006 Aug;126(8):1776-83. Epub 2006 May 4.

PMID:
16675959
[PubMed - indexed for MEDLINE]
Free Article
5.

An Indian child with Kindler syndrome resulting from a new homozygous nonsense mutation (C468X) in the KIND1 gene.

Sethuraman G, Fassihi H, Ashton GH, Bansal A, Kabra M, Sharma VK, McGrath JA.

Clin Exp Dermatol. 2005 May;30(3):286-8.

PMID:
15807691
[PubMed - indexed for MEDLINE]
6.

Five new homozygous mutations in the KIND1 gene in Kindler syndrome.

Lai-Cheong JE, Liu L, Sethuraman G, Kumar R, Sharma VK, Reddy SR, Vahlquist A, Pather S, Arita K, Wessagowit V, McGrath JA.

J Invest Dermatol. 2007 Sep;127(9):2268-70. Epub 2007 Apr 26. No abstract available.

PMID:
17460733
[PubMed - indexed for MEDLINE]
Free Article
7.

Novel and recurrent FERMT1 gene mutations in Kindler syndrome.

Techanukul T, Sethuraman G, Zlotogorski A, Horev L, Macarov M, Trainer A, Fong K, Lens M, Medenica L, Ramesh V, McGrath JA, Lai-Cheong JE.

Acta Derm Venereol. 2011 May;91(3):267-70. doi: 10.2340/00015555-1063.

PMID:
21336475
[PubMed - indexed for MEDLINE]
Free Article
8.

Recurrent KIND1 (C20orf42) gene mutation, c.676insC, in a Brazilian pedigree with Kindler syndrome.

Martignago BC, Lai-Cheong JE, Liu L, McGrath JA, Cestari TF.

Br J Dermatol. 2007 Dec;157(6):1281-4. Epub 2007 Oct 4. No abstract available.

PMID:
17916195
[PubMed - indexed for MEDLINE]
9.

Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.

Ashton GH, McLean WH, South AP, Oyama N, Smith FJ, Al-Suwaid R, Al-Ismaily A, Atherton DJ, Harwood CA, Leigh IM, Moss C, Didona B, Zambruno G, Patrizi A, Eady RA, McGrath JA.

J Invest Dermatol. 2004 Jan;122(1):78-83.

PMID:
14962093
[PubMed - indexed for MEDLINE]
Free Article
10.

A novel large FERMT1 (KIND1) gene deletion in Kindler syndrome.

Has C, Yordanova I, Balabanova M, Kazandjieva J, Herz C, Kohlhase J, Bruckner-Tuderman L.

J Dermatol Sci. 2008 Dec;52(3):209-12. doi: 10.1016/j.jdermsci.2008.07.007. Epub 2008 Oct 1. No abstract available.

PMID:
18835760
[PubMed - indexed for MEDLINE]
11.

Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement.

Sadler E, Klausegger A, Muss W, Deinsberger U, Pohla-Gubo G, Laimer M, Lanschuetzer C, Bauer JW, Hintner H.

Arch Dermatol. 2006 Dec;142(12):1619-24.

PMID:
17178989
[PubMed - indexed for MEDLINE]
12.

Exclusion of COL7A1 mutation in Kindler syndrome.

Yasukawa K, Sato-Matsumura KC, McMillan J, Tsuchiya K, Shimizu H.

J Am Acad Dermatol. 2002 Mar;46(3):447-50.

PMID:
11862187
[PubMed - indexed for MEDLINE]
13.

Kindler syndrome: a new mutation and new diagnostic possibilities.

Burch JM, Fassihi H, Jones CA, Mengshol SC, Fitzpatrick JE, McGrath JA.

Arch Dermatol. 2006 May;142(5):620-4.

PMID:
16702500
[PubMed - indexed for MEDLINE]
14.

Chronic colitis due to an epithelial barrier defect: the role of kindlin-1 isoforms.

Kern JS, Herz C, Haan E, Moore D, Nottelmann S, von Lilien T, Greiner P, Schmitt-Graeff A, Opitz OG, Bruckner-Tuderman L, Has C.

J Pathol. 2007 Dec;213(4):462-70.

PMID:
17955455
[PubMed - indexed for MEDLINE]
15.

Unusual molecular findings in Kindler syndrome.

Arita K, Wessagowit V, Inamadar AC, Palit A, Fassihi H, Lai-Cheong JE, Pourreyron C, South AP, McGrath JA.

Br J Dermatol. 2007 Dec;157(6):1252-6. Epub 2007 Sep 13. Review.

PMID:
17854379
[PubMed - indexed for MEDLINE]
16.

Sporadic Kindler syndrome with a novel mutation.

Almeida HL Jr, Heckler GT, Fong K, Lai-Cheong J, McGrath J.

An Bras Dermatol. 2013 Nov-Dec;88(6 Suppl 1):212-5. doi: 10.1590/abd1806-4841.20132173.

PMID:
24346923
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Expression of exon-8-skipped kindlin-1 does not compensate for defects of Kindler syndrome.

Natsuga K, Nishie W, Shinkuma S, Nakamura H, Matsushima Y, Tatsuta A, Komine M, Shimizu H.

J Dermatol Sci. 2011 Jan;61(1):38-44. doi: 10.1016/j.jdermsci.2010.11.008. Epub 2010 Nov 24.

PMID:
21146372
[PubMed - indexed for MEDLINE]
18.

Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome.

Lai-Cheong JE, Ussar S, Arita K, Hart IR, McGrath JA.

J Invest Dermatol. 2008 Sep;128(9):2156-65. doi: 10.1038/jid.2008.58. Epub 2008 Jun 5.

PMID:
18528435
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

C-terminally truncated kindlin-1 leads to abnormal adhesion and migration of keratinocytes.

Has C, Ludwig RJ, Herz C, Kern JS, Ussar S, Ochsendorf FR, Kaufmann R, Schumann H, Kohlhase J, Bruckner-Tuderman L.

Br J Dermatol. 2008 Nov;159(5):1192-6. doi: 10.1111/j.1365-2133.2008.08760.x. Epub 2008 Jul 22.

PMID:
18652585
[PubMed - indexed for MEDLINE]
20.

Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.

Has C, Castiglia D, del Rio M, Diez MG, Piccinni E, Kiritsi D, Kohlhase J, Itin P, Martin L, Fischer J, Zambruno G, Bruckner-Tuderman L.

Hum Mutat. 2011 Nov;32(11):1204-12. doi: 10.1002/humu.21576. Epub 2011 Sep 20. Review.

PMID:
21936020
[PubMed - indexed for MEDLINE]

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