223 related articles for article (PubMed ID: 21872685)
1. 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]
2. 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]
3. 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]
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. 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]
6. 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]
7. 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]
8. 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]
9. Rothmund-Thomson syndrome.
Larizza L; Roversi G; Volpi L
Orphanet J Rare Dis; 2010 Jan; 5():2. PubMed ID: 20113479
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. [Mutations of C16orf57 gene have been identified in the poikiloderma-neutropenia syndrome and in a specific subset of congenital dyskeratosis with normal-length telomeres].
Dereure O
Ann Dermatol Venereol; 2011; 138(4):362-3. PubMed ID: 21497268
[No Abstract] [Full Text] [Related]
16. Poikiloderma with neutropenia: a case report and review of the literature.
Farruggia P; Indaco S; Dufour C; Lanza T; Mosa C; Macaluso A; Milioto M; D'Angelo P; Lanciotti M
J Pediatr Hematol Oncol; 2014 May; 36(4):297-300. PubMed ID: 23823120
[TBL] [Abstract][Full Text] [Related]
17. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome.
Kitao S; Shimamoto A; Goto M; Miller RW; Smithson WA; Lindor NM; Furuichi Y
Nat Genet; 1999 May; 22(1):82-4. PubMed ID: 10319867
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Identification of new RECQL4 mutations in Caucasian Rothmund-Thomson patients and analysis of sensitivity to a wide range of genotoxic agents.
Cabral RE; Queille S; Bodemer C; de Prost Y; Neto JB; Sarasin A; Daya-Grosjean L
Mutat Res; 2008 Aug; 643(1-2):41-7. PubMed ID: 18616953
[TBL] [Abstract][Full Text] [Related]
20. [Rothmund-Thomson syndrome, trisomy 8 mosaicism and RECQ4 gene mutation].
Durand F; Castorina P; Morant C; Delobel B; Barouk E; Modiano P
Ann Dermatol Venereol; 2002; 129(6-7):892-5. PubMed ID: 12218919
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]