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Journal Abstract Search

264 related items for PubMed ID: 11343303

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  • 2. Mutation in the regulatory region of the EDA gene coincides with the symptoms of anhidrotic ectodermal dysplasia.
    Kobielak K, Kobielak A, Limon J, Trzeciak WH.
    Acta Biochim Pol; 1998; 45(1):245-50. PubMed ID: 9701517
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  • 3. The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia.
    Pääkkönen K, Cambiaghi S, Novelli G, Ouzts LV, Penttinen M, Kere J, Srivastava AK.
    Hum Mutat; 2001 Apr; 17(4):349. PubMed ID: 11295832
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  • 6. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
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  • 8. Correlation between the phenotypes and genotypes of X-linked hypohidrotic ectodermal dysplasia and non-syndromic hypodontia caused by ectodysplasin-A mutations.
    Zhang J, Han D, Song S, Wang Y, Zhao H, Pan S, Bai B, Feng H.
    Eur J Med Genet; 2011 Aug; 54(4):e377-82. PubMed ID: 21457804
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  • 9. A novel EDA gene mutation in a Spanish family with X-linked hypohidrotic ectodermal dysplasia.
    Cañueto J, Zafra-Cobo MI, Ciria S, Unamuno P, González-Sarmiento R.
    Actas Dermosifiliogr; 2011 Nov; 102(9):722-5. PubMed ID: 21696697
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  • 11. X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families.
    Lexner MO, Bardow A, Juncker I, Jensen LG, Almer L, Kreiborg S, Hertz JM.
    Clin Genet; 2008 Sep; 74(3):252-9. PubMed ID: 18510547
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  • 15. Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.
    van der Hout AH, Oudesluijs GG, Venema A, Verheij JB, Mol BG, Rump P, Brunner HG, Vos YJ, van Essen AJ.
    Eur J Hum Genet; 2008 Jun; 16(6):673-9. PubMed ID: 18231121
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  • 16. Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus.
    Bal E, Baala L, Cluzeau C, El Kerch F, Ouldim K, Hadj-Rabia S, Bodemer C, Munnich A, Courtois G, Sefiani A, Smahi A.
    Hum Mutat; 2007 Jul; 28(7):703-9. PubMed ID: 17354266
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  • 17. X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings.
    Clauss F, Chassaing N, Smahi A, Vincent MC, Calvas P, Molla M, Lesot H, Alembik Y, Hadj-Rabia S, Bodemer C, Manière MC, Schmittbuhl M.
    Clin Genet; 2010 Sep; 78(3):257-66. PubMed ID: 20236127
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  • 19. A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.
    Thiselton DL, Alexander C, Taanman JW, Brooks S, Rosenberg T, Eiberg H, Andreasson S, Van Regemorter N, Munier FL, Moore AT, Bhattacharya SS, Votruba M.
    Invest Ophthalmol Vis Sci; 2002 Jun; 43(6):1715-24. PubMed ID: 12036970
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