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Items: 1 to 20 of 97

1.

Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome.

Jobard F, Bouadjar B, Caux F, Hadj-Rabia S, Has C, Matsuda F, Weissenbach J, Lathrop M, Prud'homme JF, Fischer J.

Hum Mol Genet. 2003 Apr 15;12(8):925-35.

PMID:
12668616
2.

The Kindler syndrome protein is regulated by transforming growth factor-beta and involved in integrin-mediated adhesion.

Kloeker S, Major MB, Calderwood DA, Ginsberg MH, Jones DA, Beckerle MC.

J Biol Chem. 2004 Feb 20;279(8):6824-33. Epub 2003 Nov 21.

3.

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
4.

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
5.

Kindler syndrome: a focal adhesion genodermatosis.

Lai-Cheong JE, Tanaka A, Hawche G, Emanuel P, Maari C, Taskesen M, Akdeniz S, Liu L, McGrath JA.

Br J Dermatol. 2009 Feb;160(2):233-42. doi: 10.1111/j.1365-2133.2008.08976.x. Epub 2008 Dec 11. Review.

PMID:
19120339
6.

Kindler syndrome.

Ashton GH.

Clin Exp Dermatol. 2004 Mar;29(2):116-21. Review.

PMID:
14987263
7.

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
8.

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.

9.

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
10.

Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome.

Matsuura S, Matsumoto Y, Morishima K, Izumi H, Matsumoto H, Ito E, Tsutsui K, Kobayashi J, Tauchi H, Kajiwara Y, Hama S, Kurisu K, Tahara H, Oshimura M, Komatsu K, Ikeuchi T, Kajii T.

Am J Med Genet A. 2006 Feb 15;140(4):358-67.

PMID:
16411201
11.

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.

12.

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

Senderek J, Bergmann C, Stendel C, Kirfel J, Verpoorten N, De Jonghe P, Timmerman V, Chrast R, Verheijen MH, Lemke G, Battaloglu E, Parman Y, Erdem S, Tan E, Topaloglu H, Hahn A, Müller-Felber W, Rizzuto N, Fabrizi GM, Stuhrmann M, Rudnik-Schöneborn S, Züchner S, Michael Schröder J, Buchheim E, Straub V, Klepper J, Huehne K, Rautenstrauss B, Büttner R, Nelis E, Zerres K.

Am J Hum Genet. 2003 Nov;73(5):1106-19. Epub 2003 Oct 21.

13.

Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.

Davey KM, Parboosingh JS, McLeod DR, Chan A, Casey R, Ferreira P, Snyder FF, Bridge PJ, Bernier FP.

J Med Genet. 2006 May;43(5):385-93. Epub 2005 Jul 31.

14.

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
15.

Kindler syndrome: report of two cases.

Mendes L, Nogueira L, Vilasboas V, Talhari C, Talhari S, Santos M.

An Bras Dermatol. 2012 Sep-Oct;87(5):779-81.

16.

Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.

Dai H, Zhang X, Zhao X, Deng T, Dong B, Wang J, Li Y.

Mol Vis. 2008;14:2067-75. Epub 2008 Nov 17.

17.

Identification, expression analysis, genomic organization and cellular location of a novel protein with a RhoGEF domain.

Tse SW, Broderick JA, Wei ML, Luo MH, Smith D, McCaffery P, Stamm S, Andreadis A.

Gene. 2005 Oct 10;359:63-72.

PMID:
16143467
18.

Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.

Laurier V, Stoetzel C, Muller J, Thibault C, Corbani S, Jalkh N, Salem N, Chouery E, Poch O, Licaire S, Danse JM, Amati-Bonneau P, Bonneau D, Mégarbané A, Mandel JL, Dollfus H.

Eur J Hum Genet. 2006 Nov;14(11):1195-203. Epub 2006 Jul 5.

19.

Gene symbol: Kind1. Disease: kindler syndrome.

Lanschuetzer CM, Muss WH, Emberger M, Pohla-Gubo G, Klausegger A, Bauer JW, Hintner H.

Hum Genet. 2004 Jul;115(2):175. No abstract available.

PMID:
15300990
20.

Kindler surprise: mutations in a novel actin-associated protein cause Kindler syndrome.

White SJ, McLean WH.

J Dermatol Sci. 2005 Jun;38(3):169-75. Epub 2005 Mar 31. Review.

PMID:
15927810

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