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Items: 1 to 20 of 143

1.

Therapy-related myelodysplasia in a patient with Rothmund-Thomson syndrome.

Carlson AM, Lindor NM, Litzow MR.

Eur J Haematol. 2011 Jun;86(6):536-40. doi: 10.1111/j.1600-0609.2011.01609.x.

PMID:
21418107
2.

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
3.

Rothmund-Thomson syndrome with myelodysplasia.

Narayan S, Fleming C, Trainer AH, Craig JA.

Pediatr Dermatol. 2001 May-Jun;18(3):210-2.

PMID:
11438000
4.

Two primary osteosarcomas in a patient with Rothmund-Thomson syndrome.

Anbari KK, Ierardi-Curto LA, Silber JS, Asada N, Spinner N, Zackai EH, Belasco J, Morrissette JD, Dormans JP.

Clin Orthop Relat Res. 2000 Sep;(378):213-23.

PMID:
10986997
5.

Rothmund-Thomson syndrome.

Larizza L, Roversi G, Volpi L.

Orphanet J Rare Dis. 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2. Review.

6.

Rothmund-Thomson syndrome and osteosarcoma.

Cumin I, Cohen JY, David A, Méchinaud F, Avet-Loiseau H, Harousseau JL.

Med Pediatr Oncol. 1996 Jun;26(6):414-6.

PMID:
8614379
7.

An unusual mutation in RECQ4 gene leading to Rothmund-Thomson syndrome.

Balraj P, Concannon P, Jamal R, Beghini A, Hoe TS, Khoo AS, Volpi L.

Mutat Res. 2002 Oct 31;508(1-2):99-105.

8.

Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report.

De Somer L, Wouters C, Morren MA, De Vos R, Van Den Oord J, Devriendt K, Meyts I.

Orphanet J Rare Dis. 2010 Dec 8;5:37. doi: 10.1186/1750-1172-5-37.

9.

Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review.

Simon T, Kohlhase J, Wilhelm C, Kochanek M, De Carolis B, Berthold F.

Am J Med Genet A. 2010 Jun;152A(6):1575-9. doi: 10.1002/ajmg.a.33427. Review.

PMID:
20503338
10.

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 25;643(1-2):41-7. doi: 10.1016/j.mrfmmm.2008.06.002. Epub 2008 Jun 21.

PMID:
18616953
11.

Rothmund-Thomson syndrome (RTS) with osteosarcoma due to RECQL4 mutation.

Salih A, Inoue S, Onwuzurike N.

BMJ Case Rep. 2018 Jan 23;2018. pii: bcr-2017-222384. doi: 10.1136/bcr-2017-222384.

PMID:
29367366
12.

Rothmund-Thomson syndrome (Thomson-type) and myelodysplasia.

Pianigiani E, De Aloe G, Andreassi A, Rubegni P, Fimiani M.

Pediatr Dermatol. 2001 Sep-Oct;18(5):422-5.

PMID:
11737690
13.

Chronic tibial nonunion in a Rothmund-Thomson syndrome patient.

Carlson AM, Thomas KB, Kirmani S, Lindor NM.

Am J Med Genet A. 2012 Sep;158A(9):2250-3. doi: 10.1002/ajmg.a.35475. Epub 2012 Jul 20.

PMID:
22821900
14.

Successful umbilical cord blood stem cell transplantation in a patient with Rothmund-Thomson syndrome and combined immunodeficiency.

Broom MA, Wang LL, Otta SK, Knutsen AP, Siegfried E, Batanian JR, Kelly ME, Shah M.

Clin Genet. 2006 Apr;69(4):337-43.

PMID:
16630167
15.

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
16.

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
17.

Clinicopathologic features of osteosarcoma in patients with Rothmund-Thomson syndrome.

Hicks MJ, Roth JR, Kozinetz CA, Wang LL.

J Clin Oncol. 2007 Feb 1;25(4):370-5.

PMID:
17264332
18.

Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.

Siitonen HA, Kopra O, Kääriäinen H, Haravuori H, Winter RM, Säämänen AM, Peltonen L, Kestilä M.

Hum Mol Genet. 2003 Nov 1;12(21):2837-44. Epub 2003 Sep 2.

PMID:
12952869
19.

Multicentric osteosarcoma, Rothmund-Thomson syndrome, and secondary nasopharyngeal non-Hodgkin's lymphoma: a case report and review of the literature.

Spurney C, Gorlick R, Meyers PA, Healey JH, Huvos AG.

J Pediatr Hematol Oncol. 1998 Sep-Oct;20(5):494-7.

PMID:
9787328
20.

[Rothmund-Thomson syndrome and osteosarcoma].

Molina MI, Santolaya JM, Delgado A, Garrote MI, Martínez MR, Indiano JM, Ereño C.

Arch Pediatr. 1995 Sep;2(9):865-70. French.

PMID:
7581784

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