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Items: 1 to 20 of 104

1.

Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2.

Aten E, Brasz LC, Bornholdt D, Hooijkaas IB, Porteous ME, Sybert VP, Vermeer MH, Vossen RH, van der Wielen MJ, Bakker E, Breuning MH, Grzeschik KH, Oosterwijk JC, den Dunnen JT.

Hum Mutat. 2010 Oct;31(10):1125-33. doi: 10.1002/humu.21335.

PMID:
20672378
2.

MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans.

Fong K, Wedgeworth EK, Lai-Cheong JE, Tosi I, Mellerio JE, Powell AM, McGrath JA.

Clin Exp Dermatol. 2012 Aug;37(6):631-4. doi: 10.1111/j.1365-2230.2011.04288.x.

PMID:
22816986
3.

Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2.

Fong K, Takeichi T, Liu L, Pramanik R, Lee J, Akiyama M, McGrath JA.

Clin Exp Dermatol. 2015 Jul;40(5):529-32. doi: 10.1111/ced.12587. Epub 2015 Feb 16.

PMID:
25683132
4.

Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity.

Oosterwijk JC, Richard G, van der Wielen MJ, van de Vosse E, Harth W, Sandkuijl LA, Bakker E, van Ommen GJ.

Hum Genet. 1997 Oct;100(5-6):520-4.

PMID:
9341865
5.

Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.

Bornholdt D, Atkinson TP, Bouadjar B, Catteau B, Cox H, De Silva D, Fischer J, Gunasekera CN, Hadj-Rabia S, Happle R, Holder-Espinasse M, Kaminski E, König A, Mégarbané A, Mégarbané H, Neidel U, Oeffner F, Oji V, Theos A, Traupe H, Vahlquist A, van Bon BW, Virtanen M, Grzeschik KH.

Hum Mutat. 2013 Apr;34(4):587-94. doi: 10.1002/humu.22275. Epub 2013 Mar 8.

PMID:
23316014
6.

Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2.

Porteous ME, Strain L, Logie LJ, Herd RM, Benton EC.

J Med Genet. 1998 Apr;35(4):336-7.

7.

Keratosis follicularis spinulosa decalvans: report of a new pedigree.

Herd RM, Benton EC.

Br J Dermatol. 1996 Jan;134(1):138-42.

PMID:
8745901
8.

Linkage analysis of keratosis follicularis spinulosa decalvans, and regional assignment to human chromosome Xp21.2-p22.2.

Oosterwijk JC, Nelen M, van Zandvoort PM, van Osch LD, Oranje AP, Wittebol-Post D, van Oost BA.

Am J Hum Genet. 1992 Apr;50(4):801-7.

9.

Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers.

van Osch LD, Oranje AP, Keukens FM, van Voorst Vader PC, Veldman E.

J Med Genet. 1992 Jan;29(1):36-40.

10.

IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response.

Oeffner F, Fischer G, Happle R, König A, Betz RC, Bornholdt D, Neidel U, Boente Mdel C, Redler S, Romero-Gomez J, Salhi A, Vera-Casaño A, Weirich C, Grzeschik KH.

Am J Hum Genet. 2009 Apr;84(4):459-67. doi: 10.1016/j.ajhg.2009.03.014.

11.

Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2.

Oosterwijk JC, van der Wielen MJ, van de Vosse E, Voorhoeve E, Bakker E.

J Med Genet. 1995 Sep;32(9):736-9.

12.
13.

Keratosis follicularis spinulosa decalvans in a family.

Bellet JS, Kaplan AL, Selim MA, Olsen EA.

J Am Acad Dermatol. 2008 Mar;58(3):499-502. doi: 10.1016/j.jaad.2007.03.028.

PMID:
18280351
14.

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome due to mutation of the gene MBTPS2 in a large Australian kindred.

Ming A, Happle R, Grzeschik KH, Fischer G.

Pediatr Dermatol. 2009 Jul-Aug;26(4):427-31. doi: 10.1111/j.1525-1470.2009.00946.x.

PMID:
19689518
15.

Keratosis follicularis spinulosa decalvans. Report of two cases and literature review.

Rand R, Baden HP.

Arch Dermatol. 1983 Jan;119(1):22-6. Review.

PMID:
6336927
16.

Novel MBTPS2 missense mutation causes a keratosis follicularis spinulosa decalvans phenotype: mutation update and review of the literature.

Zhang J, Wang Y, Cheng R, Ni C, Liang J, Li M, Yao Z.

Clin Exp Dermatol. 2016 Oct;41(7):757-60. doi: 10.1111/ced.12889.

PMID:
27663151
17.

Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans.

Castori M, Covaciu C, Paradisi M, Zambruno G.

Eur J Med Genet. 2009 Jan-Feb;52(1):53-8. doi: 10.1016/j.ejmg.2008.09.005. Epub 2008 Oct 17.

PMID:
18984066
18.

[Keratosis follicularis spinulosa decalvans].

Helbig D, Grabbe S, Jansen T.

Hautarzt. 2008 Jan;59(1):46-9. German.

PMID:
17551700
19.

A novel mutation in MBTPS2 causes a broad phenotypic spectrum of ichthyosis follicularis, atrichia, and photophobia syndrome in a large Chinese family.

Tang L, Liang J, Wang W, Yu L, Yao Z.

J Am Acad Dermatol. 2011 Apr;64(4):716-22. doi: 10.1016/j.jaad.2010.02.045.

PMID:
21315478
20.

Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD).

Gimelli G, Giglio S, Zuffardi O, Alhonen L, Suppola S, Cusano R, Lo Nigro C, Gatti R, Ravazzolo R, Seri M.

Hum Genet. 2002 Sep;111(3):235-41. Epub 2002 Aug 1.

PMID:
12215835

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