146 related articles for article (PubMed ID: 26546903)
1. 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]
2. 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]
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 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. Generation of poikiloderma with neutropenia (PN) induced pluripotent stem cells (iPSCs).
Mills JA; Hudock KM; Sullivan SK; Herrera P; Sullivan LM; Gadue P; French DL
Stem Cell Res; 2015 Nov; 15(3):595-7. PubMed ID: 26987923
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Clericuzio-type poikiloderma with neutropenia in a patient from India.
Bishnoi A; Jamwal M; Das R; Scaria V; Vishwajeet V; De D; Saikia UN; Mahajan R
Am J Med Genet A; 2021 Jan; 185(1):278-281. PubMed ID: 33111394
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Lymphopenia with Low T and NK Cells in a Patient with USB1 Mutation, Rare Findings in Clericuzio-Type Poikiloderma with Neutropenia.
Bilgic Eltan S; Sefer AP; Karakus İS; Ozen A; Karakoc-Aydiner E; Baris S
J Clin Immunol; 2021 Jul; 41(5):1106-1111. PubMed ID: 33624217
[No Abstract] [Full Text] [Related]
17. 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]
18. 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]
19. Defective monocyte plasticity and altered cAMP pathway characterize USB1-mutated poikiloderma with neutropenia Clericuzio type.
Parajuli P; Craig DB; Gadgeel M; Bagla S; Wright RE; Chu R; Shanti CM; Thirunagari R; Grover SK; Ravindranath Y
Br J Haematol; 2024 Feb; 204(2):683-693. PubMed ID: 37779259
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]