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Results: 1 to 20 of 248

1.

De novo mutations in monilethrix.

Horev L, Djabali K, Green J, Sinclair R, Martinez-Mir A, Ingber A, Christiano AM, Zlotogorski A.

Exp Dermatol. 2003 Dec;12(6):882-5.

PMID:
14714571
[PubMed - indexed for MEDLINE]
2.

Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype.

Korge BP, Hamm H, Jury CS, Traupe H, Irvine AD, Healy E, Birch-MacHin M, Rees JL, Messenger AG, Holmes SC, Parry DA, Munro CS.

J Invest Dermatol. 1999 Oct;113(4):607-12.

PMID:
10504448
[PubMed - indexed for MEDLINE]
Free Article
3.

Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix.

Djabali K, Panteleyev AA, Lalin T, Garzon MC, Longley BJ, Bickers DR, Zlotogorski A, Christiano AM.

Clin Exp Dermatol. 2003 Mar;28(2):206-10.

PMID:
12653715
[PubMed - indexed for MEDLINE]
4.

Monilethrix: a novel mutation (Glu402Lys) in the helix termination motif and the first causative mutation (Asn114Asp) in the helix initiation motif of the type II hair keratin hHb6.

Winter H, Clark RD, Tarras-Wahlberg C, Rogers MA, Schweizer J.

J Invest Dermatol. 1999 Aug;113(2):263-6.

PMID:
10469314
[PubMed - indexed for MEDLINE]
Free Article
5.

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]
6.

Monilethrix: mutational hotspot in the helix termination motif of the human hair basic keratin 6.

Horev L, Glaser B, Metzker A, Ben-Amitai D, Vardy D, Zlotogorski A.

Hum Hered. 2000 Sep-Oct;50(5):325-30.

PMID:
10878479
[PubMed - indexed for MEDLINE]
Free Article
7.

A mutational hotspot in the 2B domain of human hair basic keratin 6 (hHb6) in monilethrix patients.

Korge BP, Healy E, Munro CS, Pünter C, Birch-Machin M, Holmes SC, Darlington S, Hamm H, Messenger AG, Rees JL, Traupe H.

J Invest Dermatol. 1998 Nov;111(5):896-9. Review.

PMID:
9804356
[PubMed - indexed for MEDLINE]
8.

A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type II hair keratin hHb1.

Winter H, Labrèze C, Chapalain V, Surlève-Bazeille JE, Mercier M, Rogers MA, Taieb A, Schweizer J.

J Invest Dermatol. 1998 Jul;111(1):169-72.

PMID:
9665406
[PubMed - indexed for MEDLINE]
9.

Monilethrix: a keratin hHb6 mutation is co-dominant with variable expression.

Zlotogorski A, Horev L, Glaser B.

Exp Dermatol. 1998 Oct;7(5):268-72.

PMID:
9832314
[PubMed - indexed for MEDLINE]
10.

Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix.

Winter H, Rogers MA, Langbein L, Stevens HP, Leigh IM, Labrèze C, Roul S, Taieb A, Krieg T, Schweizer J.

Nat Genet. 1997 Aug;16(4):372-4.

PMID:
9241275
[PubMed - indexed for MEDLINE]
11.

Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix.

Pearce EG, Smith SK, Lanigan SW, Bowden PE.

J Invest Dermatol. 1999 Dec;113(6):1123-7.

PMID:
10594761
[PubMed - indexed for MEDLINE]
Free Article
12.

Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis.

Shimomura Y, Sakamoto F, Kariya N, Matsunaga K, Ito M.

J Invest Dermatol. 2006 Jun;126(6):1281-5.

PMID:
16439973
[PubMed - indexed for MEDLINE]
Free Article
13.

Recurrent E413K mutation of hHb6 in a Japanese family with monilethrix.

Muramatsu S, Kimura T, Ueki R, Tsuboi R, Ikeda S, Ogawa H.

Dermatology. 2003;206(4):338-40.

PMID:
12771477
[PubMed - indexed for MEDLINE]
14.

Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene.

Michael EJ, Schneiderman P, Grossman ME, Christiano AM.

Exp Dermatol. 1999 Dec;8(6):501-3.

PMID:
10597140
[PubMed - indexed for MEDLINE]
15.

A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin.

Khandpur S, Bairwa NK, Reddy BS, Bamezai R.

Ann Genet. 2004 Jan-Mar;47(1):77-84.

PMID:
15050877
[PubMed - indexed for MEDLINE]
16.

An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis.

Zlotogorski A, Marek D, Horev L, Abu A, Ben-Amitai D, Gerad L, Ingber A, Frydman M, Reznik-Wolf H, Vardy DA, Pras E.

J Invest Dermatol. 2006 Jun;126(6):1292-6.

PMID:
16575393
[PubMed - indexed for MEDLINE]
Free Article
17.

Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity.

Birch-Machin MA, Healy E, Turner R, Haldane F, Belgaid CE, Darlington S, Stephenson AM, Munro C, Messenger AG, Rees JL.

Br J Dermatol. 1997 Sep;137(3):339-43.

PMID:
9349326
[PubMed - indexed for MEDLINE]
18.

Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis.

Arin MJ, Longley MA, Epstein EH Jr, Rothnagel JA, Roop DR.

Exp Dermatol. 2000 Feb;9(1):16-9.

PMID:
10688370
[PubMed - indexed for MEDLINE]
19.

Splice site and deletion mutations in keratin (KRT1 and KRT10) genes: unusual phenotypic alterations in Scandinavian patients with epidermolytic hyperkeratosis.

Virtanen M, Smith SK, Gedde-Dahl T Jr, Vahlquist A, Bowden PE.

J Invest Dermatol. 2003 Nov;121(5):1013-20.

PMID:
14708600
[PubMed - indexed for MEDLINE]
Free Article
20.

Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5.

Sprecher E, Yosipovitch G, Bergman R, Ciubutaro D, Indelman M, Pfendner E, Goh LC, Miller CJ, Uitto J, Richard G.

J Invest Dermatol. 2003 Apr;120(4):623-6.

PMID:
12648226
[PubMed - indexed for MEDLINE]
Free Article

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