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Results: 1 to 20 of 137

1.

Menkes disease in affected females: The clinical disease spectrum.

Smpokou P, Samanta M, Berry GT, Hecht L, Engle EC, Lichter-Konecki U.

Am J Med Genet A. 2014 Nov 26. doi: 10.1002/ajmg.a.36853. [Epub ahead of print]

PMID:
25428120
[PubMed - as supplied by publisher]
2.

Netherton syndrome with pili torti.

Srinivas SM, Hiremagalore R, Suryanarayan S, Budamakuntala L.

Int J Trichology. 2013 Oct;5(4):225-6. doi: 10.4103/0974-7753.130424. No abstract available.

PMID:
24778540
[PubMed]
Free PMC Article
3.

Alopecia in genetic diseases.

Calvieri S, Rossi A.

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

PMID:
24566562
[PubMed - indexed for MEDLINE]
4.

Light microscopic hair abnormalities in children: retrospective review of 119 cases in a 10-year period.

Shao L, Newell B.

Pediatr Dev Pathol. 2014 Jan-Feb;17(1):36-43. doi: 10.2350/13-09-1375-OA.1. Epub 2013 Nov 19.

PMID:
24251687
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

A case of pili torti in a young adult domestic short-haired cat.

Maina E, Colombo S, Abramo F, Pasquinelli G.

Vet Dermatol. 2013 Apr;24(2):289-e68. doi: 10.1111/vde.12004. Epub 2013 Feb 5.

PMID:
23384010
[PubMed - indexed for MEDLINE]
7.

Electro-clinical features and magnetic resonance imaging correlates in Menkes disease.

Bindu PS, Taly AB, Kothari S, Christopher R, Gayathri N, Sinha S, Nagappa M, Bhatt M, Bharath RD.

Brain Dev. 2013 May;35(5):398-405. doi: 10.1016/j.braindev.2012.07.016. Epub 2012 Aug 24.

PMID:
22921468
[PubMed - indexed for MEDLINE]
8.

Trichoscopy update 2011.

Rudnicka L, Olszewska M, Rakowska A, Slowinska M.

J Dermatol Case Rep. 2011 Dec 12;5(4):82-8. doi: 10.3315/jdcr.2011.1083.

PMID:
22408709
[PubMed]
Free PMC Article
9.

Clinical evaluation of alopecias using a handheld dermatoscope.

Karadağ Köse Ö, Güleç AT.

J Am Acad Dermatol. 2012 Aug;67(2):206-14. doi: 10.1016/j.jaad.2011.08.019. Epub 2011 Oct 22.

PMID:
22024772
[PubMed - indexed for MEDLINE]
10.

Kinky hair, kinky vessels, and bladder diverticula in Menkes disease.

Cosimo QC, Daniela L, Elsa B, Carlo DV, Giuseppe F.

J Neuroimaging. 2011 Apr;21(2):e114-6. doi: 10.1111/j.1552-6569.2010.00476.x.

PMID:
20412396
[PubMed - indexed for MEDLINE]
11.

[Clinical and laboratory features of the Menkes disease].

Wang XH, Lü JL, Zhang LP, Zou LP, Wu HS, Wang X, Yang XY.

Zhonghua Er Ke Za Zhi. 2009 Aug;47(8):604-7. Chinese.

PMID:
19951494
[PubMed - indexed for MEDLINE]
12.

Pili torti: clinical findings, associated disorders, and new insights into mechanisms of hair twisting.

Mirmirani P, Samimi SS, Mostow E.

Cutis. 2009 Sep;84(3):143-7.

PMID:
19842574
[PubMed - indexed for MEDLINE]
13.

Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome.

Dishop MK, Bree AF, Hicks MJ.

Am J Med Genet A. 2009 Sep;149A(9):1935-41. doi: 10.1002/ajmg.a.32826.

PMID:
19697429
[PubMed - indexed for MEDLINE]
14.

Hair diagnoses and signs: the use of dermatoscopy.

Wallace MP, de Berker DA.

Clin Exp Dermatol. 2010 Jan;35(1):41-6. doi: 10.1111/j.1365-2230.2009.03383.x. Epub 2009 Jun 22.

PMID:
19549236
[PubMed - indexed for MEDLINE]
15.

Schöpf-Schulz-Passarge syndrome with pili torti: A new association?

SZEPETIUK G, VANHOOTEGHEM O, MULLER G, STENE JJ, NIKKELS AF.

Eur J Dermatol. 2009 Sep-Oct;19(5):517-8. doi: 10.1684/ejd.2009.0743. Epub 2009 Jun 15. No abstract available.

PMID:
19527991
[PubMed - indexed for MEDLINE]
16.

In vivo reflectance confocal microscopy: usefulness for diagnosing hair diseases.

Rudnicka L, Olszewska M, Rakowska A.

J Dermatol Case Rep. 2008 Dec 27;2(4):55-9. doi: 10.3315/jdcr.2008.1017.

PMID:
21886715
[PubMed]
Free PMC Article
17.

Menkes kinky hair disease: A case report.

Datta AK, Ghosh T, Nayak K, Ghosh M.

Cases J. 2008 Sep 18;1(1):158. doi: 10.1186/1757-1626-1-158.

PMID:
18801184
[PubMed]
Free PMC Article
18.

Trichoscopy in genetic hair shaft abnormalities.

Rakowska A, Slowinska M, Kowalska-Oledzka E, Rudnicka L.

J Dermatol Case Rep. 2008 Jul 7;2(2):14-20. doi: 10.3315/jdcr.2008.1009.

PMID:
21886705
[PubMed]
Free PMC Article
19.

Syndromic (phenotypic) diarrhea in early infancy.

Goulet O, Vinson C, Roquelaure B, Brousse N, Bodemer C, Cézard JP.

Orphanet J Rare Dis. 2008 Feb 28;3:6. doi: 10.1186/1750-1172-3-6. Review.

PMID:
18304370
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

[Neonatal onset of Menkes disease: diagnosis interest of cupremia and microscopic examination of the hairs].

Maury A, Payen V, Toutain A, Guiraud P, Saliba E, Labarthe F.

Arch Pediatr. 2007 Oct;14(10):1216-8. Epub 2007 Jul 24. French.

PMID:
17651950
[PubMed - indexed for MEDLINE]

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