BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

192 related articles for article (PubMed ID: 15558713)

  • 1. Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome.
    Van Hove JL; Jaeken J; Proesmans M; Boeck KD; Minner K; Matthijs G; Verbeken E; Demunter A; Boogaerts M
    Am J Med Genet A; 2005 Jan; 132A(2):152-8. PubMed ID: 15558713
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Systematic search for neutropenia should be part of the first screening in patients with poikiloderma.
    Piard J; Holder-Espinasse M; Aral B; Gigot N; Rio M; Tardieu M; Puzenat E; Goldenberg A; Toutain A; Franques J; MacDermot K; Bessis D; Boute O; Callier P; Gueneau L; Huet F; Vabres P; Catteau B; Faivre L; Thauvin-Robinet C
    Eur J Med Genet; 2012 Jan; 55(1):8-11. PubMed ID: 21872685
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco.
    Mostefai R; Morice-Picard F; Boralevi F; Sautarel M; Lacombe D; Stasia MJ; McGrath J; Taïeb A
    Am J Med Genet A; 2008 Nov; 146A(21):2762-9. PubMed ID: 18925663
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.
    Piard J; Aral B; Vabres P; Holder-Espinasse M; Mégarbané A; Gauthier S; Capra V; Pierquin G; Callier P; Baumann C; Pasquier L; Baujat G; Martorell L; Rodriguez A; Brady AF; Boralevi F; González-Enseñat MA; Rio M; Bodemer C; Philip N; Cordier MP; Goldenberg A; Demeer B; Wright M; Blair E; Puzenat E; Parent P; Sznajer Y; Francannet C; DiDonato N; Boute O; Barlogis V; Moldovan O; Bessis D; Coubes C; Tardieu M; Cormier-Daire V; Sousa AB; Franques J; Toutain A; Tajir M; Elalaoui SC; Geneviève D; Thevenon J; Courcet JB; Rivière JB; Collet C; Gigot N; Faivre L; Thauvin-Robinet C
    Clin Genet; 2015 Mar; 87(3):244-51. PubMed ID: 24635570
    [TBL] [Abstract][Full Text] [Related]  

  • 9. When Rothmund-Thomson syndrome is not: two new cases of Clericuzio-type poikiloderma with neutropenia.
    Tadros S; Forde K; Syed S; Gholam K; Hurst J
    Clin Dysmorphol; 2021 Jan; 30(1):50-53. PubMed ID: 32897901
    [No Abstract]   [Full Text] [Related]  

  • 10. [Thomson-type congenital poikiloderma with reduced DNA repair capacity].
    Barrut D; Goujon-Henry C; Thomas L; Vasseur F; Moulin G
    Ann Dermatol Venereol; 1993; 120(11):755-8. PubMed ID: 8210100
    [No Abstract]   [Full Text] [Related]  

  • 11. Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia.
    Tanaka A; Morice-Picard F; Lacombe D; Nagy N; Hide M; Taïeb A; McGrath J
    Am J Med Genet A; 2010 Jun; 152A(6):1347-8. PubMed ID: 20503306
    [No Abstract]   [Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. Rothmund-Thomson syndrome: a case series from a tertiary pediatric hospital in Mexico.
    Sánchez-Padilla AP; Valencia-Herrera AM; Toledo-Bahena ME; Mena-Cedillos CA; Toussaint-Caire S
    Bol Med Hosp Infant Mex; 2022; 79(1):56-61. PubMed ID: 35086131
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Overlap between Baller-Gerold and Rothmund-Thomson syndrome.
    Mégarbané A; Melki I; Souraty N; Gerbaka J; El Ghouzzi V; Bonaventure J; Mornand A; Loiselet J
    Clin Dysmorphol; 2000 Oct; 9(4):303-5. PubMed ID: 11045594
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Rothmund-Thomson syndrome: a report of two patients and a review of the literature.
    Moss C
    Br J Dermatol; 1990 Jun; 122(6):821-9. PubMed ID: 2196075
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Variable presentation of Rothmund-Thomson syndrome.
    Pujol LA; Erickson RP; Heidenreich RA; Cunniff C
    Am J Med Genet; 2000 Nov; 95(3):204-7. PubMed ID: 11102924
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.
    Suter AA; Itin P; Heinimann K; Ahmed M; Ashraf T; Fryssira H; Kini U; Lapunzina P; Miny P; Sommerlund M; Suri M; Vaeth S; Vasudevan P; Gallati S
    Mol Genet Genomic Med; 2016 May; 4(3):359-66. PubMed ID: 27247962
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.