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Items: 1 to 20 of 109

1.

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
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.

3.

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
4.

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.

5.

Rothmund-Thomson syndrome.

Vennos EM, James WD.

Dermatol Clin. 1995 Jan;13(1):143-50. Review.

PMID:
7712640
6.

[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 Jun-Jul;129(6-7):892-5. French.

PMID:
12218919
7.

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
8.

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
9.

Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome.

Lindor NM, Furuichi Y, Kitao S, Shimamoto A, Arndt C, Jalal S.

Am J Med Genet. 2000 Jan 31;90(3):223-8.

PMID:
10678659
10.

Rothmund-Thomson syndrome with myelodysplasia.

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

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

PMID:
11438000
11.

Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status.

Mehollin-Ray AR, Kozinetz CA, Schlesinger AE, Guillerman RP, Wang LL.

AJR Am J Roentgenol. 2008 Aug;191(2):W62-6. doi: 10.2214/AJR.07.3619.

PMID:
18647888
12.

[A familial case of Rothmund-Thomson syndrome. A case in favor of the uniqueness of the syndrome. Association with osteosarcoma].

Rebaud P, David L, Plauchu H, Chatelain P, Moulin G, François R.

Pediatrie. 1985 Sep;40(6):487-92. French.

PMID:
3869684
13.

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.

14.

Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome.

Mann MB, Hodges CA, Barnes E, Vogel H, Hassold TJ, Luo G.

Hum Mol Genet. 2005 Mar 15;14(6):813-25. Epub 2005 Feb 9.

15.

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
16.

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.

17.

Osteogenic sarcoma and Rothmund Thomson syndrome.

Varughese M, Leavey P, Smith P, Sneath R, Breatnach F, O'Meara A.

J Cancer Res Clin Oncol. 1992;118(5):389-90.

PMID:
1583068
18.

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
19.

Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping.

Larizza L, Magnani I, Roversi G.

Cancer Lett. 2006 Jan 28;232(1):107-20. Epub 2005 Nov 3. Review.

PMID:
16271439
20.

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
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