BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

132 related articles for article (PubMed ID: 29797650)

  • 1. Poikiloderma with neutropenia in a Tunisian patient with a novel C16orf57 gene mutation.
    Sakka R; Mahjoub B; Kerkeni E; Werdani A; Boussoffara R; Ben Cheikh H; M'rad R; Sfar MT
    Pediatr Blood Cancer; 2018 Sep; 65(9):e27262. PubMed ID: 29797650
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clericuzio-type Poikiloderma with Neutropenia Syndrome in a Turkish Family: a Three Report of Siblings with Mutation in the C16orf57 gene.
    Patiroglu T; Akar HH
    Iran J Allergy Asthma Immunol; 2015 Jun; 14(3):331-7. PubMed ID: 26546903
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Poikiloderma with Neutropenia in Morocco: a Report of Four Cases.
    Aglaguel A; Abdelghaffar H; Ailal F; Habti N; Hesse S; Kohistani N; Klein C; Bousfiha AA
    J Clin Immunol; 2017 May; 37(4):357-362. PubMed ID: 28353165
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Poikiloderma with neutropenia: report of three cases including one with calcinosis cutis.
    Chantorn R; Shwayder T
    Pediatr Dermatol; 2012; 29(4):463-72. PubMed ID: 21967010
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of a Novel C16orf57 Mutation in Iranian Patient with Clericuzio-type Poikiloderma with Neutropenia (CPN): A Case Report.
    Abolnezhadian F; Iranparast S
    Iran J Allergy Asthma Immunol; 2019 Aug; 18(4):441-446. PubMed ID: 31522452
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants.
    Colombo EA; Elcioglu NH; Graziano C; Farinelli P; Di Fede E; Neri I; Facchini E; Greco M; Gervasini C; Larizza L
    J Clin Immunol; 2018 May; 38(4):494-502. PubMed ID: 29770900
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Poikiloderma with Neutropenia, Clericuzio-Type Accompanied by Loss of Digits Due to Severe Osteomyelitis.
    Akdogan N; Kindis E; Bostan E; Utine E; Alikasifoglu M; Ersoy-Evans S
    J Clin Immunol; 2020 Aug; 40(6):934-939. PubMed ID: 32620997
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype.
    Concolino D; Roversi G; Muzzi GL; Sestito S; Colombo EA; Volpi L; Larizza L; Strisciuglio P
    Am J Med Genet A; 2010 Oct; 152A(10):2588-94. PubMed ID: 20734427
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome.
    Walne AJ; Vulliamy T; Beswick R; Kirwan M; Dokal I
    Hum Mol Genet; 2010 Nov; 19(22):4453-61. PubMed ID: 20817924
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria.
    Arnold AW; Itin PH; Pigors M; Kohlhase J; Bruckner-Tuderman L; Has C
    Br J Dermatol; 2010 Oct; 163(4):866-9. PubMed ID: 20618321
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia.
    Clericuzio C; Harutyunyan K; Jin W; Erickson RP; Irvine AD; McLean WH; Wen Y; Bagatell R; Griffin TA; Shwayder TA; Plon SE; Wang LL
    Am J Med Genet A; 2011 Feb; 155A(2):337-42. PubMed ID: 21271650
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Poikiloderma with neutropenia: genotype-ethnic origin correlation, expanding phenotype and literature review.
    Koparir A; Gezdirici A; Koparir E; Ulucan H; Yilmaz M; Erdemir A; Yuksel A; Ozen M
    Am J Med Genet A; 2014 Oct; 164A(10):2535-40. PubMed ID: 25044170
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.
    Volpi L; Roversi G; Colombo EA; Leijsten N; Concolino D; Calabria A; Mencarelli MA; Fimiani M; Macciardi F; Pfundt R; Schoenmakers EF; Larizza L
    Am J Hum Genet; 2010 Jan; 86(1):72-6. PubMed ID: 20004881
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Poikiloderma with neutropenia: beginning at the end.
    Mason PJ; Bessler M
    Blood; 2013 Feb; 121(6):872-4. PubMed ID: 23393019
    [No Abstract]   [Full Text] [Related]  

  • 15. Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations.
    Colombo EA; Bazan JF; Negri G; Gervasini C; Elcioglu NH; Yucelten D; Altunay I; Cetincelik U; Teti A; Del Fattore A; Luciani M; Sullivan SK; Yan AC; Volpi L; Larizza L
    Orphanet J Rare Dis; 2012 Jan; 7():7. PubMed ID: 22269211
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms.
    Negri G; Crescenzi B; Colombo EA; Fontana L; Barba G; Arcioni F; Gervasini C; Mecucci C; Larizza L
    Br J Haematol; 2015 Nov; 171(4):557-65. PubMed ID: 26306619
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings.
    Concolino D; Sestito S; Falvo F; Romano G; Ceravolo M; Anastasio E; Pensabene L; Colombo EA; Larizza L
    Eur J Med Genet; 2019 Jan; 62(1):73-76. PubMed ID: 29753917
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Poikiloderma with neutropenia: An alternate presentation with dyspigmentation and novel USB1 mutation.
    Peterson MY; Hanson B; Polcari I
    Pediatr Dermatol; 2022 Jul; 39(4):609-612. PubMed ID: 35522049
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Image Gallery: Poikiloderma with neutropenia.
    Chen X; Yang Y; Lin Z
    Br J Dermatol; 2019 Jan; 180(1):e6. PubMed ID: 30604532
    [No Abstract]   [Full Text] [Related]  

  • 20. A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor.
    Colombo EA; Carra S; Fontana L; Bresciani E; Cotelli F; Larizza L
    Sci Rep; 2015 Nov; 5():15814. PubMed ID: 26522474
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.