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Items: 1 to 20 of 175

1.

Myopathy in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

Watanabe M, Ochi H, Arahata H, Matsuo T, Nagafuchi S, Ohyagi Y, Kira J.

Muscle Nerve. 2012 Jun;45(6):904-8. doi: 10.1002/mus.23321.

PMID:
22581549
2.

Dermatological manifestations of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.

Collins SM, Dominguez M, Ilmarinen T, Costigan C, Irvine AD.

Br J Dermatol. 2006 Jun;154(6):1088-93.

PMID:
16704638
3.

Evaluation of the autoimmune regulator (AIRE) gene mutations in a cohort of Italian patients with autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) and in their relatives.

Cervato S, Mariniello B, Lazzarotto F, Morlin L, Zanchetta R, Radetti G, De Luca F, Valenzise M, Giordano R, Rizzo D, Giordano C, Betterle C.

Clin Endocrinol (Oxf). 2009 Mar;70(3):421-8. doi: 10.1111/j.1365-2265.2008.03318.x. Epub 2008 Jun 27.

PMID:
18616706
4.
5.

Lupus-like panniculitis in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).

Füchtenbusch M, Vogel A, Achenbach P, Gummer M, Ziegler AG, Albert E, Standl E, Manns MP.

Exp Clin Endocrinol Diabetes. 2003 Aug;111(5):288-93.

PMID:
12951636
6.

Analysis of the autoimmune regulator gene in patients with autoimmune non-APECED polyendocrinopathies.

Palma A, Gianchecchi E, Palombi M, Luciano R, Di Carlo P, Crinò A, Cappa M, Fierabracci A.

Genomics. 2013 Sep;102(3):163-8. doi: 10.1016/j.ygeno.2013.04.016. Epub 2013 Apr 30.

7.

The autoimmune regulator: a key toward understanding the molecular pathogenesis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

Meriluoto T, Halonen M, Pelto-Huikko M, Kangas H, Korhonen J, Kolmer M, Ulmanen I, Eskelin P.

Keio J Med. 2001 Dec;50(4):225-39. Review.

8.

The genetic background of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy and its autoimmune disease components.

Vogel A, Strassburg CP, Obermayer-Straub P, Brabant G, Manns MP.

J Mol Med (Berl). 2002 Apr;80(4):201-11. Epub 2002 Feb 5. Review.

PMID:
11976729
9.

A novel heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED).

Fierabracci A, Bizzarri C, Palma A, Milillo A, Bellacchio E, Cappa M.

Gene. 2012 Dec 10;511(1):113-7. doi: 10.1016/j.gene.2012.09.029. Epub 2012 Sep 18.

PMID:
23000069
10.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl.

Kollios K, Tsolaki A, Antachopoulos C, Moix I, Morris MA, Papadopoulou M, Roilides E.

J Pediatr Endocrinol Metab. 2011;24(7-8):599-601.

PMID:
21932610
11.

Two novel AIRE mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) among Indians.

Zaidi G, Sahu RP, Zhang L, George G, Bhavani N, Shah N, Bhatia V, Bhansali A, Jevalikar G, Jayakumar RV, Eisenbarth GS, Bhatia E.

Clin Genet. 2009 Nov;76(5):441-8. doi: 10.1111/j.1399-0004.2009.01280.x. Epub 2009 Oct 6.

PMID:
19807739
12.

Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein.

Björses P, Halonen M, Palvimo JJ, Kolmer M, Aaltonen J, Ellonen P, Perheentupa J, Ulmanen I, Peltonen L.

Am J Hum Genet. 2000 Feb;66(2):378-92.

13.

[One case of type 1 auto-immune polyendocrinopathy or APECED].

Puzenat E, Pepin L, Bertrand AM, Pelletier F, Monnier D, Levang J, Mermet I, Humbert P, Aubin F.

Ann Dermatol Venereol. 2010 Dec;137(12):794-8. doi: 10.1016/j.annder.2010.08.014. Epub 2010 Sep 28. French.

PMID:
21134582
14.

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: known and novel aspects of the syndrome.

Kisand K, Peterson P.

Ann N Y Acad Sci. 2011 Dec;1246:77-91. doi: 10.1111/j.1749-6632.2011.06308.x. Review.

PMID:
22236432
15.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in the Irish population.

Dominguez M, Crushell E, Ilmarinen T, McGovern E, Collins S, Chang B, Fleming P, Irvine AD, Brosnahan D, Ulmanen I, Murphy N, Costigan C.

J Pediatr Endocrinol Metab. 2006 Nov;19(11):1343-52.

PMID:
17220063
16.

Screening for an AIRE-1 mutation in patients with Addison's disease, type 1 diabetes, Graves' disease and Hashimoto's thyroiditis as well as in APECED syndrome.

Meyer G, Donner H, Herwig J, Böhles H, Usadel KH, Badenhoop K.

Clin Endocrinol (Oxf). 2001 Mar;54(3):335-8.

PMID:
11298085
17.

APECED mutations in the autoimmune regulator (AIRE) gene.

Heino M, Peterson P, Kudoh J, Shimizu N, Antonarakis SE, Scott HS, Krohn K.

Hum Mutat. 2001 Sep;18(3):205-11. Review.

PMID:
11524731
18.

Novel compound heterozygous AIRE mutations in a Japanese patient with APECED.

Sato U, Horikawa R, Katsumata N, Asakura Y, Kitanaka S, Tanaka T.

J Pediatr Endocrinol Metab. 2004 Jun;17(6):917-21.

PMID:
15270412
19.

[Myopathy with trabecular fibers associated with familiar autoimmune polyglandular syndrome type 1].

Gazulla Abío J, Benavente Aguilar I, Ricoy Campo JR, Madero Barrajón P.

Neurologia. 2005 Dec;20(10):702-8. Spanish.

PMID:
16317594

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