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Items: 1 to 20 of 82

1.

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. doi: 10.1016/j.ajhg.2009.11.014. Epub 2009 Dec 10. Erratum in: Am J Hum Genet. 2010 Sep 10;87(3):445.

2.

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. doi: 10.1002/ajmg.a.33600.

PMID:
20734427
3.

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. doi: 10.1111/j.1365-2133.2010.09929.x. Epub 2010 Sep 7.

PMID:
20618321
4.

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. doi: 10.1016/j.ejmg.2011.07.004. Epub 2011 Aug 18.

PMID:
21872685
5.

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. doi: 10.1002/ajmg.a.33807. Epub 2010 Dec 22.

6.

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 15;19(22):4453-61. doi: 10.1093/hmg/ddq371. Epub 2010 Sep 3.

7.

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. doi: 10.1002/ajmg.a.33455. No abstract available.

PMID:
20503306
8.

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 15;132A(2):152-8.

PMID:
15558713
9.

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 23;7:7. doi: 10.1186/1750-1172-7-7.

10.
11.

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 1;146A(21):2762-9. doi: 10.1002/ajmg.a.32524.

PMID:
18925663
12.

Poikiloderma with neutropenia: report of three cases including one with calcinosis cutis.

Chantorn R, Shwayder T.

Pediatr Dermatol. 2012 Jul-Aug;29(4):463-72. doi: 10.1111/j.1525-1470.2011.01513.x. Epub 2011 Oct 4.

PMID:
21967010
13.

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 Feb 24;4(3):359-66. doi: 10.1002/mgg3.209. eCollection 2016 May.

14.

C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification.

Mroczek S, Krwawicz J, Kutner J, Lazniewski M, Kuciński I, Ginalski K, Dziembowski A.

Genes Dev. 2012 Sep 1;26(17):1911-25. doi: 10.1101/gad.193169.112. Epub 2012 Aug 16.

15.

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.

PMID:
10319867
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. doi: 10.1097/MPH.0b013e31829f35e7. Review.

PMID:
23823120
17.

[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. doi: 10.1016/j.annder.2011.01.026. Epub 2011 Feb 26. French. No abstract available.

PMID:
21497268
18.

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. doi: 10.1007/s10875-017-0385-7. Epub 2017 Mar 28.

PMID:
28353165
19.

Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.

Wang LL, Gannavarapu A, Kozinetz CA, Levy ML, Lewis RA, Chintagumpala MM, Ruiz-Maldanado R, Contreras-Ruiz J, Cunniff C, Erickson RP, Lev D, Rogers M, Zackai EH, Plon SE.

J Natl Cancer Inst. 2003 May 7;95(9):669-74.

PMID:
12734318
20.

RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient.

Beghini A, Castorina P, Roversi G, Modiano P, Larizza L.

Am J Med Genet A. 2003 Jul 30;120A(3):395-9.

PMID:
12838562

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