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Journal Abstract Search

152 related items for PubMed ID: 12230514

  • 1. Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes.
    Sprecher E, Itin P, Whittock NV, McGrath JA, Meyer R, DiGiovanna JJ, Bale SJ, Uitto J, Richard G.
    J Invest Dermatol; 2002 Sep; 119(3):692-8. PubMed ID: 12230514
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  • 2. Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.
    Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, Hennies HC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G, Sprecher E.
    Am J Hum Genet; 2006 Oct; 79(4):724-30. PubMed ID: 16960809
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  • 3. The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21.
    Whittock NV, Coleman CM, McLean WH, Ashton GH, Acland KM, Eady RA, McGrath JA.
    J Invest Dermatol; 2000 Oct; 115(4):694-8. PubMed ID: 10998145
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  • 4. [Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis. Two allelic ectodermal dysplasias related to mutations of dominant gene coding for keratin 14].
    Dereure O.
    Ann Dermatol Venereol; 2007 Oct; 134(6-7):595. PubMed ID: 17657198
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  • 7. Naegeli-Franceschetti-Jadassohn syndrome: A rare case.
    Shah BJ, Jagati AK, Gupta NP, Dhamale SS.
    Indian Dermatol Online J; 2015 Oct; 6(6):403-6. PubMed ID: 26753140
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  • 9. Prenatal and postnatal growth retardation, microcephaly, developmental delay, and pigmentation abnormalities: Naegeli syndrome, dyskeratosis congenita, poikiloderma Clericuzio type, or separate entity?
    Belligni EF, Dokal I, Hennekam RC.
    Eur J Med Genet; 2011 Oct; 54(3):231-5. PubMed ID: 21252004
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  • 10. A new case of keratin 14 functional knockout causes severe recessive EBS and questions the haploinsufficiency model of Naegeli-Franceschetti-Jadassohn syndrome.
    Titeux M, Décha A, Pironon N, Tonasso L, Gasc G, Mejía JE, Prost-Squarcioni C, Hovnanian A.
    J Invest Dermatol; 2011 Oct; 131(10):2131-3. PubMed ID: 21734713
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  • 13. Natural history of the Naegeli-Franceschetti-Jadassohn syndrome and further delineation of its clinical manifestations.
    Itin PH, Lautenschlager S, Meyer R, Mevorah B, Rufli T.
    J Am Acad Dermatol; 1993 Jun; 28(6):942-50. PubMed ID: 8496458
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  • 14. A missense mutation in KRT14 causing a dermatopathia pigmentosa reticularis/Naegeli-Franceschetti-Jadassohn phenotype.
    van Steensel MA, Lemmink HH.
    J Eur Acad Dermatol Venereol; 2010 Sep; 24(9):1116-7. PubMed ID: 20180888
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  • 19. Inherited Reticulate Pigmentary Disorders.
    Lin MH, Chou PC, Lee IC, Yang SF, Yu HS, Yu S.
    Genes (Basel); 2023 Jun 20; 14(6):. PubMed ID: 37372478
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  • 20. Reticular pigmented genodermatosis with milia--a special form of Naegeli-Franceschetti-Jadassohn syndrome or a new entity?
    Tzermias C, Zioga A, Hatzis I.
    Clin Exp Dermatol; 1995 Jul 20; 20(4):331-5. PubMed ID: 8548993
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