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Results: 1 to 20 of 100

1.

Congenital monilethrix and hereditary unilateral external auditory canal atresia are co-inherited in a Chinese pedigree with recurrent KRT86 mutation.

Feng YG, Xiao SX, Xu AL, Feng JY, Wang JM.

J Dermatol. 2012 Sep;39(9):817-9. doi: 10.1111/j.1346-8138.2012.01565.x. Epub 2012 May 9. No abstract available.

PMID:
22568869
[PubMed - indexed for MEDLINE]
2.

Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix.

Ye ZZ, Nan X, Zhao HS, Chen XR, Song QH.

Chin Med J (Engl). 2013 Aug;126(16):3103-6.

PMID:
23981620
[PubMed - indexed for MEDLINE]
Free Article
3.

A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance.

De Cruz R, Horev L, Green J, Babay S, Sladden M, Zlotogorski A, Sinclair R.

Br J Dermatol. 2012 Jun;166 Suppl 2:20-6. doi: 10.1111/j.1365-2133.2012.10861.x.

PMID:
22670615
[PubMed - indexed for MEDLINE]
4.

Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.

Celep F, Uzumcu A, Sonmez FM, Uyguner O, Balci YI, Bahadir S, Karaguzel A.

Genet Couns. 2009;20(1):1-8.

PMID:
19400537
[PubMed - indexed for MEDLINE]
5.

Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families.

Wasif N, Naqvi SK, Basit S, Ali N, Ansar M, Ahmad W.

Hum Genet. 2011 Apr;129(4):419-24. doi: 10.1007/s00439-010-0938-9. Epub 2010 Dec 28.

PMID:
21188418
[PubMed - indexed for MEDLINE]
6.

[Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].

Feng AP, Liu P, Yang T.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Apr;25(2):141-4. Chinese.

PMID:
18393232
[PubMed - indexed for MEDLINE]
7.

Mutations in the keratin 85 (KRT85/hHb5) gene underlie pure hair and nail ectodermal dysplasia.

Shimomura Y, Wajid M, Kurban M, Sato N, Christiano AM.

J Invest Dermatol. 2010 Mar;130(3):892-5. doi: 10.1038/jid.2009.341. Epub 2009 Oct 29. No abstract available.

PMID:
19865094
[PubMed - indexed for MEDLINE]
Free Article
8.

Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation.

Rasool M, Nawaz S, Azhar A, Wajid M, Westermark P, Baig SM, Klar J, Dahl N.

Eur J Dermatol. 2010 Jul-Aug;20(4):443-6. doi: 10.1684/ejd.2010.0962. Epub 2010 Apr 21.

PMID:
20409997
[PubMed - indexed for MEDLINE]
9.

A missense mutation in the type II hair keratin hHb3 is associated with monilethrix.

van Steensel MA, Steijlen PM, Bladergroen RS, Vermeer M, van Geel M.

J Med Genet. 2005 Mar;42(3):e19. No abstract available.

PMID:
15744029
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix.

Wu J, Lin Y, Xu W, Li Z, Fan W.

J Biomed Res. 2011 Jan;25(1):49-55. doi: 10.1016/S1674-8301(11)60006-7.

PMID:
23554671
[PubMed]
Free PMC Article
11.

[Surgery of the external auditory canal in familial bilateral auditory canal atresia].

Frese KA, Bosse M, Maune S.

Laryngorhinootologie. 2000 Jul;79(7):383-7. German.

PMID:
11005088
[PubMed - indexed for MEDLINE]
12.

A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix.

Winter H, Rogers MA, Gebhardt M, Wollina U, Boxall L, Chitayat D, Babul-Hirji R, Stevens HP, Zlotogorski A, Schweizer J.

Hum Genet. 1997 Dec;101(2):165-9.

PMID:
9402962
[PubMed - indexed for MEDLINE]
13.

A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene.

Farooq M, Ito M, Naito M, Shimomura Y.

Br J Dermatol. 2011 Aug;165(2):425-31. doi: 10.1111/j.1365-2133.2011.10373.x. Epub 2011 Jul 19.

PMID:
21495994
[PubMed - indexed for MEDLINE]
14.

Inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance.

Rasmussen N, Johnsen NJ, Thomsen J.

Acta Otolaryngol. 1979;88(3-4):296-302.

PMID:
495079
[PubMed - indexed for MEDLINE]
15.

Recessive microtia, meatal atresia, and hearing loss. Report of a sibship.

Konigsmark BW, Nager GT, Haskins HL.

Arch Otolaryngol. 1972 Aug;96(2):105-9. No abstract available.

PMID:
5081912
[PubMed - indexed for MEDLINE]
16.

[Hair and genes: continuing progress].

Dereure O.

Ann Dermatol Venereol. 2010 Aug-Sep;137(8-9):576-7. doi: 10.1016/j.annder.2010.07.003. Epub 2010 Aug 21. Review. French. No abstract available.

PMID:
20804908
[PubMed - indexed for MEDLINE]
17.

Hair follicle-specific keratins and their diseases.

Schweizer J, Langbein L, Rogers MA, Winter H.

Exp Cell Res. 2007 Jun 10;313(10):2010-20. Epub 2007 Mar 14. Review.

PMID:
17428470
[PubMed - indexed for MEDLINE]
18.

An additional classification for congenital aural atresia. Its impact on the predictability of surgical results.

Cremers CW, Marres EH.

Acta Otorhinolaryngol Belg. 1987;41(4):596-601.

PMID:
3425299
[PubMed - indexed for MEDLINE]
19.

Linkage of monilethrix to the trichocyte and epithelial keratin gene cluster on 12q11-q13.

Stevens HP, Kelsell DP, Bryant SP, Bishop DT, Dawber RP, Spurr NK, Leigh IM.

J Invest Dermatol. 1996 Apr;106(4):795-7.

PMID:
8618025
[PubMed - indexed for MEDLINE]
20.

A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree.

Gu Z, Ji B, Wan C, He G, Zhang J, Zhang M, Feng G, He L, Gao L.

Mol Vis. 2010 Feb 5;16:154-60.

PMID:
20142846
[PubMed - indexed for MEDLINE]
Free PMC Article

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