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Items: 1 to 20 of 28

1.

Prognosis and Management of Congenital Hair Shaft Disorders without Fragility-Part II.

Singh G, Miteva M.

Pediatr Dermatol. 2016 Sep;33(5):481-7. doi: 10.1111/pde.12902. Epub 2016 Jun 13. Review.

PMID:
27293153
2.

Prognosis and Management of Congenital Hair Shaft Disorders with Fragility-Part I.

Singh G, Miteva M.

Pediatr Dermatol. 2016 Sep;33(5):473-80. doi: 10.1111/pde.12894. Epub 2016 Jun 13. Review.

PMID:
27292719
3.

Dermoscopy: A rapid bedside tool to assess monilethrix.

Sharma VK, Chiramel MJ, Rao A.

Indian J Dermatol Venereol Leprol. 2016 Jan-Feb;82(1):73-4. doi: 10.4103/0378-6323.172910. No abstract available.

4.

Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix.

Wang JM, Xiao YJ, Liang YH.

Int J Dermatol. 2015 Oct;54(10):1163-8. doi: 10.1111/ijd.12889. Epub 2015 Jul 14.

PMID:
26173648
5.

A novel KRT86 mutation in a Turkish family with monilethrix, and identification of maternal mosaicism.

Redler S, Pasternack SM, Wolf S, Stienen D, Wenzel J, Nöthen MM, Betz RC.

Clin Exp Dermatol. 2015 Oct;40(7):781-5. doi: 10.1111/ced.12631. Epub 2015 Mar 21.

PMID:
25809918
6.

Monilethrix: a typical case report with microscopic and dermatoscopic findings.

Oliveira EF, Araripe AL.

An Bras Dermatol. 2015 Jan-Feb;90(1):126-7. doi: 10.1590/abd1806-4841.20153357.

7.

Keratins: the hair shaft's backbone revealed.

Ramot Y, Zlotogorski A.

Exp Dermatol. 2015 Jun;24(6):416-7. doi: 10.1111/exd.12654. Epub 2015 Mar 25. No abstract available.

PMID:
25653108
8.

An autosomal recessive mutation of DSG4 causes monilethrix through the ER stress response.

Kato M, Shimizu A, Yokoyama Y, Kaira K, Shimomura Y, Ishida-Yamamoto A, Kamei K, Tokunaga F, Ishikawa O.

J Invest Dermatol. 2015 May;135(5):1253-60. doi: 10.1038/jid.2015.12. Epub 2015 Jan 23.

9.

Novel KRT83 and KRT86 mutations associated with monilethrix.

van Steensel M, Vreeburg M, Urbina MT, López P, Morice-Picard F, van Geel M.

Exp Dermatol. 2015 Mar;24(3):222-4. doi: 10.1111/exd.12624.

PMID:
25557232
10.

A novel deletion mutation in the DSG4 gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families.

Ullah A, Raza SI, Ali RH, Naveed AK, Jan A, Rizvi SD, Satti R, Ahmad W.

Clin Exp Dermatol. 2015 Jan;40(1):78-84. doi: 10.1111/ced.12457. Epub 2014 Sep 23.

PMID:
25251037
11.

Alopecia in genetic diseases.

Calvieri S, Rossi A.

G Ital Dermatol Venereol. 2014 Feb;149(1):1-13. Review.

PMID:
24566562
12.

Moniletherix.

Yaghoobi R, Feily A.

Pan Afr Med J. 2013 Jun 12;15:53. doi: 10.11604/pamj.2013.15.53.2719. eCollection 2013. No abstract available.

13.

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
14.

Pitfalls and pearls in the diagnosis of monilethrix.

Leitner C, Cheung S, de Berker D.

Pediatr Dermatol. 2013 Sep-Oct;30(5):633-5. doi: 10.1111/pde.12183. Epub 2013 Jul 9.

PMID:
23834295
15.

Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome.

Gripp KW, Ennis S, Napoli J.

Am J Med Genet A. 2013 May;161A(5):1058-63. doi: 10.1002/ajmg.a.35913.

PMID:
23610050
16.

Dermoscopy for the pediatric dermatologist part I: dermoscopy of pediatric infectious and inflammatory skin lesions and hair disorders.

Haliasos EC, Kerner M, Jaimes-Lopez N, Rudnicka L, Zalaudek I, Malvehy J, Hofmann-Wellenhof R, Braun RP, Marghoob AA.

Pediatr Dermatol. 2013 Mar-Apr;30(2):163-71. doi: 10.1111/pde.12097. Epub 2013 Feb 14. Review.

PMID:
23405886
17.

Monilethrix.

de Lencastre A, Tosti A.

J Pediatr. 2012 Dec;161(6):1176. doi: 10.1016/j.jpeds.2012.06.033. Epub 2012 Aug 9. No abstract available.

PMID:
22884362
18.

The proteomic profile of hair damage.

Sinclair R, Flagler MJ, Jones L, Rufaut N, Davis MG.

Br J Dermatol. 2012 Jun;166 Suppl 2:27-32. doi: 10.1111/j.1365-2133.2012.10862.x.

PMID:
22670616
19.

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
20.

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

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