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Journal Abstract Search

121 related items for PubMed ID: 32282935

  • 1. Identification of a founder mutation in KRT14 associated with Naegeli-Franceschetti-Jadassohn syndrome.
    Ralser DJ, Kumar S, Borisov O, Sarig O, Richard G, Wolf S, Krawitz PM, Sprecher E, Kreiß M, Betz RC.
    Br J Dermatol; 2020 Oct; 183(4):756-757. PubMed ID: 32282935
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  • 3. 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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  • 4. Spontaneous fading of reticular pigmentation in Naegeli-Franceschetti-Jadassohn syndrome.
    Itin PH, Burger B.
    Dermatology; 2010 Oct; 221(2):135-6. PubMed ID: 20587992
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  • 5. 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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  • 6. [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 Sep; 134(6-7):595. PubMed ID: 17657198
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  • 7. Naegeli-Franceschetti-Jadassohn syndrome in a Saudi Arabian family.
    Tubaigy SM, Hassan HM.
    J Forensic Sci; 2014 Mar; 59(2):555-8. PubMed ID: 24261749
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  • 9. 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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  • 12. 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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  • 16. 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(4):331-5. PubMed ID: 8548993
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  • 18. 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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  • 20. [Pachyonychia congenita. Keratin gene mutations with pleiotropic effect].
    Swensson O.
    Hautarzt; 1999 Jul; 50(7):483-90. PubMed ID: 10464680
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