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 *

218 related articles for article (PubMed ID: 22069181)

  • 1. Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes.
    Serra V; Castori M; Paradisi M; Bui L; Melino G; Terrinoni A
    Am J Med Genet A; 2011 Dec; 155A(12):3104-9. PubMed ID: 22069181
    [TBL] [Abstract][Full Text] [Related]  

  • 2. EEC- and ADULT-associated TP63 mutations exhibit functional heterogeneity toward P63 responsive sequences.
    Monti P; Russo D; Bocciardi R; Foggetti G; Menichini P; Divizia MT; Lerone M; Graziano C; Wischmeijer A; Viadiu H; Ravazzolo R; Inga A; Fronza G
    Hum Mutat; 2013 Jun; 34(6):894-904. PubMed ID: 23463580
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.
    Prontera P; Garelli E; Isidori I; Mencarelli A; Carando A; Silengo MC; Donti E
    Am J Med Genet A; 2011 Nov; 155A(11):2746-9. PubMed ID: 21990121
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.
    Soğukpınar M; Utine GE; Boduroğlu K; Şimşek-Kiper PÖ
    Eur J Med Genet; 2024 Apr; 68():104911. PubMed ID: 38281558
    [TBL] [Abstract][Full Text] [Related]  

  • 5. ADULT syndrome: phenotype in a Brazilian family with the R298Q mutation.
    de Almeida HL; van Steensel M; Rocha A; Caspary P; Meijer R
    Int J Dermatol; 2019 Mar; 58(3):e72-e75. PubMed ID: 30656674
    [No Abstract]   [Full Text] [Related]  

  • 6. ADULT syndrome due to an R243W mutation in TP63.
    Berk DR; Armstrong NL; Shinawi M; Whelan AJ
    Int J Dermatol; 2012 Jun; 51(6):693-6. PubMed ID: 22607287
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 'Double trouble': diagnostic challenges in genetic skin disorders.
    Kiritsi D; Valari M; Mileounis K; Bruckner-Tuderman L; Has C
    Br J Dermatol; 2015 Jan; 172(1):276-8. PubMed ID: 24902867
    [No Abstract]   [Full Text] [Related]  

  • 8. ADULT syndrome caused by a mutation previously associated with EEC syndrome.
    Avitan-Hersh E; Indelman M; Bergman R; Sprecher E
    Pediatr Dermatol; 2010; 27(6):643-5. PubMed ID: 21078104
    [TBL] [Abstract][Full Text] [Related]  

  • 9. EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report.
    Otsuki Y; Ueda K; Nuri T; Satoh C; Maekawa R; Yoshiura KI
    Medicine (Baltimore); 2020 Oct; 99(44):e22816. PubMed ID: 33126320
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes
    Hizem S; Maamouri R; Zaouak A; Rejeb I; Karoui S; Sebai M; Jilani H; Elaribi Y; Fenniche S; Cheour M; Bilan F; Ben Jemaa L
    Ophthalmic Genet; 2024 Feb; 45(1):84-94. PubMed ID: 37158316
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome: An Uncommon Member of the Ectodermal Dysplasias.
    Whittington A; Stein S; Kenner-Bell B
    Pediatr Dermatol; 2016 Sep; 33(5):e322-6. PubMed ID: 27469932
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel variant in the TP63 gene associated to ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome.
    Gonzalez F; Loidi L; Abalo-Lojo JM
    Ophthalmic Genet; 2017; 38(3):277-280. PubMed ID: 27485918
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up.
    Serra G; Antona V; Giuffré M; Li Pomi F; Lo Scalzo L; Piro E; Schierz IAM; Corsello G
    Ital J Pediatr; 2021 Sep; 47(1):196. PubMed ID: 34583755
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A newborn with overlapping features of AEC and EEC syndromes.
    Celik TH; Buyukcam A; Simsek-Kiper PO; Utine GE; Ersoy-Evans S; Korkmaz A; Yntema HG; Bodugroglu K; Yurdakok M
    Am J Med Genet A; 2011 Dec; 155A(12):3100-3. PubMed ID: 22065614
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia.
    Jin JY; Zeng L; Li K; He JQ; Pang X; Huang H; Xiang R; Tang JY
    J Gene Med; 2019 Oct; 21(10):e3122. PubMed ID: 31420900
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Tooth defects of EEC and AEC syndrome caused by heterozygous TP63 mutations in three Chinese families and genotype-phenotype correlation analyses of TP63-related disorders.
    Zheng J; Liu H; Zhan Y; Liu Y; Wong SW; Cai T; Feng H; Han D
    Mol Genet Genomic Med; 2019 Jun; 7(6):e704. PubMed ID: 31050217
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A Case of Ankyloblepharon-ectodermal Defects-cleft Lip/Palate-syndrome with Choanal Atresia and Skin Erosions: Phenotypic Variability of TP63-related Disorders.
    Niculescu L; Wagner M; Westphal DS; Fischer M; Mihatsch W; Prothmann A; Ruzicka T; Wollenberg A; Wolff H; Schmidt H; Giehl KA
    Acta Derm Venereol; 2019 Jan; 99(1):111-112. PubMed ID: 29956718
    [No Abstract]   [Full Text] [Related]  

  • 18. A recurrent TP63 mutation causing EEC3 and Rapp-Hodgkin syndromes.
    Brueggemann FB; Bartsch O
    Clin Dysmorphol; 2016 Apr; 25(2):50-3. PubMed ID: 26882220
    [TBL] [Abstract][Full Text] [Related]  

  • 19. TP63-related disorders: two case reports and a brief review of the literature.
    Nanda A; AlLafi A; Wolf S; AlMasry IM; Betz R
    Dermatol Online J; 2021 Nov; 27(11):. PubMed ID: 35130400
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC).
    Rinne T; Bolat E; Meijer R; Scheffer H; van Bokhoven H
    Am J Med Genet A; 2009 Sep; 149A(9):1948-51. PubMed ID: 19676060
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.