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Items: 1 to 20 of 116

1.

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
2.

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
3.

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
4.

Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient.

Wang HJ, Tang ZL, Lin ZM, Dai LL, Chen Q, Yang Y.

Clin Exp Dermatol. 2014 Mar;39(2):158-61. doi: 10.1111/ced.12248. Epub 2013 Dec 7.

PMID:
24313295
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.

Novel MBTPS2 missense mutation in the N-terminus transmembrane domain in a patient with ichthyosis follicularis, alopecia, and photophobia syndrome.

Izumi K, Wilkens A, Treat JR, Pride HB, Krantz ID.

Pediatr Dermatol. 2013 Nov-Dec;30(6):e263-4. doi: 10.1111/pde.12115. Epub 2013 Apr 3.

PMID:
23551428
7.

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
8.

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
9.

Ichthyosis follicularis with alopecia and photophobia.

Eramo LR, Esterly NB, Zieserl EJ, Stock EL, Herrmann J.

Arch Dermatol. 1985 Sep;121(9):1167-74.

PMID:
4037843
10.

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
11.

A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation.

Nakayama J, Iwasaki N, Shin K, Sato H, Kamo M, Ohyama M, Noguchi E, Arinami T.

J Hum Genet. 2011 Mar;56(3):250-2. doi: 10.1038/jhg.2010.163. Epub 2010 Dec 23.

PMID:
21179107
12.

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
13.

A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome in a Chinese family.

Ding YG, Wang JY, Qiao JJ, Mao XH, Cai SQ.

Br J Dermatol. 2010 Oct;163(4):886-9. doi: 10.1111/j.1365-2133.2010.09890.x. Epub 2010 Jul 28. No abstract available.

PMID:
20854407
14.

Keratosis follicularis spinulosa decalvans in a female.

Sequeira FF, Jayaseelan E.

Indian J Dermatol Venereol Leprol. 2011 May-Jun;77(3):325-7. doi: 10.4103/0378-6323.79708.

15.

IFAP syndrome with severe cutaneous, neurologic and skeletal manifestations due to a novel MBTPS2 mutation in a Polish patient.

Pietrzak A, Kanitakis J, Staśkiewicz G, Sobczyńska-Tomaszewska A, Dybiec E, Szumiło J, Kandzierski G, Wawrzycki B, Chodorowska G.

Eur J Dermatol. 2012 Jul-Aug;22(4):467-72. doi: 10.1684/ejd.2012.1772.

PMID:
22781927
16.

Keratosis follicularis spinulosa decalvans: a rare cause of scarring alopecia in two young Indian girls.

Maheswari UG, Chaitra V, Mohan SS.

Int J Trichology. 2013 Jan;5(1):29-31. doi: 10.4103/0974-7753.114713.

17.

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
18.

Keratosis follicularis spinulosa decalvans associated with acne keloidalis nuchae and tufted hair folliculitis.

Janjua SA, Iftikhar N, Pastar Z, Hosler GA.

Am J Clin Dermatol. 2008;9(2):137-40.

PMID:
18284270
19.

Keratosis follicularis spinulosa decalvans: report of a new pedigree.

Herd RM, Benton EC.

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

PMID:
8745901
20.

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.

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