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Items: 1 to 20 of 211

1.

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
2.

A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13.

Healy E, Holmes SC, Belgaid CE, Stephenson AM, Mclean WH, Rees JL, Munro CS.

Hum Mol Genet. 1995 Dec;4(12):2399-402.

PMID:
8634717
3.

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
4.

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
5.

Evidence for genetic heterogeneity in monilethrix.

Richard G, Itin P, Lin JP, Bon A, Bale SJ.

J Invest Dermatol. 1996 Dec;107(6):812-4.

PMID:
8941666
6.

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
7.

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
8.
9.

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
10.

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
11.
12.

Clouston syndrome (hidrotic ectodermal dysplasia) is not linked to keratin gene clusters on chromosomes 12 and 17.

Hayflick SJ, Taylor T, McKinnon W, Guttmacher AE, Litt M, Zonana J.

J Invest Dermatol. 1996 Jul;107(1):11-4.

PMID:
8752831
13.

Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster.

Weber A, Wienker TF, Jung M, Easton D, Dean HJ, Heinrichs C, Reis A, Clark AJ.

Hum Mol Genet. 1996 Dec;5(12):2061-6.

14.

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
15.

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
16.

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
17.

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
18.

Hereditary 'white nails': a genetic and structural study.

Norgett EE, Wolf F, Balme B, Leigh IM, Perrot H, Kelsell DP, Haftek M.

Br J Dermatol. 2004 Jul;151(1):65-72.

PMID:
15270873
19.

Pure hair-nail ectodermal dysplasia maps to chromosome 12p11.1-q21.1 in a consanguineous Pakistani family.

Naeem M, John P, Ali G, Ahmad W.

Clin Exp Dermatol. 2007 Sep;32(5):502-5. Epub 2007 May 8.

PMID:
17489990
20.

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
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