These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

134 related articles for article (PubMed ID: 17657198)

  • 1. [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; 134(6-7):595. PubMed ID: 17657198
    [No Abstract]   [Full Text] [Related]  

  • 2. 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]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

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

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

  • 6. 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]  

  • 7. 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]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 54(3):231-5. PubMed ID: 21252004
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Naegeli-Franceschetti-Jadassohn syndrome: A rare case.
    Shah BJ; Jagati AK; Gupta NP; Dhamale SS
    Indian Dermatol Online J; 2015; 6(6):403-6. PubMed ID: 26753140
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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
    [No Abstract]   [Full Text] [Related]  

  • 12. 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]  

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

  • 14. 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; 24(5):551-4. PubMed ID: 17958808
    [No Abstract]   [Full Text] [Related]  

  • 15. KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome.
    Lugassy J; McGrath JA; Itin P; Shemer R; Verbov J; Murphy HR; Ishida-Yamamoto A; Digiovanna JJ; Bercovich D; Karin N; Vitenshtein A; Uitto J; Bergman R; Richard G; Sprecher E
    J Invest Dermatol; 2008 Jun; 128(6):1517-24. PubMed ID: 18049449
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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
    [TBL] [Abstract][Full Text] [Related]  

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

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Inherited Reticulate Pigmentary Disorders.
    Lin MH; Chou PC; Lee IC; Yang SF; Yu HS; Yu S
    Genes (Basel); 2023 Jun; 14(6):. PubMed ID: 37372478
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A.
    Petrof G; Fong K; Lai-Cheong JE; Cockayne SE; McGrath JA
    Australas J Dermatol; 2011 Aug; 52(3):224-6. PubMed ID: 21834823
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.