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Journal Abstract Search

158 related items for PubMed ID: 30968399

  • 1. Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: intrafamilial overlap of phenotypes in patients with the same KRT14 frameshift variant.
    Burger B, Spoerri I, Imahorn E, Wariwoda H, Leeb T, Itin PH.
    Br J Dermatol; 2019 Oct; 181(4):864-866. PubMed ID: 30968399
    [No Abstract] [Full Text] [Related]

  • 2. Spontaneous fading of reticular pigmentation in Naegeli-Franceschetti-Jadassohn syndrome.
    Itin PH, Burger B.
    Dermatology; 2010 Oct; 221(2):135-6. PubMed ID: 20587992
    [No Abstract] [Full Text] [Related]

  • 3. [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
    [No Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. A case of dermatopathia pigmentosa reticularis.
    Bu TS, Kim YK, Whang KU.
    J Dermatol; 1997 Apr; 24(4):266-9. PubMed ID: 9164071
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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
    [No Abstract] [Full Text] [Related]

  • 8. A case of dermatopathia pigmentosa reticularis with wiry scalp hair and digital fibromatosis resulting from a recurrent KRT14 mutation.
    Goh BK, Common JE, Gan WH, Kumarasinghe P.
    Clin Exp Dermatol; 2009 Apr; 34(3):340-3. PubMed ID: 19040520
    [Abstract] [Full Text] [Related]

  • 9. [Dermatopathia pigmentosa reticularis].
    Gallouj S, Benchat L, Sekal S, Harmouch T, Amarti A, Mernissi FZ.
    Ann Dermatol Venereol; 2014 Apr; 141(4):322-4. PubMed ID: 24703653
    [No Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. Natural history of the Naegeli-Franceschetti-Jadassohn syndrome.
    Papini M.
    J Am Acad Dermatol; 1994 Nov; 31(5 Pt 1):830. PubMed ID: 7929942
    [No Abstract] [Full Text] [Related]

  • 12. 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
    [No Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. 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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  • 16. V-shaped hyperpigmented linear lesions, patchy hypotrichosis, and teeth abnormalities in a young girl.
    Toll A, Vincent MC, Calvas P, Pujol RM.
    Pediatr Dermatol; 2007 Oct; 24(5):551-4. PubMed ID: 17958808
    [No Abstract] [Full Text] [Related]

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