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Items: 1 to 20 of 314

1.

Variable presentation of Rothmund-Thomson syndrome.

Pujol LA, Erickson RP, Heidenreich RA, Cunniff C.

Am J Med Genet. 2000 Nov 27;95(3):204-7.

PMID:
11102924
2.

Rothmund-Thomson syndrome with myelodysplasia.

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

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

PMID:
11438000
3.

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
4.

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
5.

Overlap between Baller-Gerold and Rothmund-Thomson syndrome.

Mégarbané A, Melki I, Souraty N, Gerbaka J, El Ghouzzi V, Bonaventure J, Mornand A, Loiselet J.

Clin Dysmorphol. 2000 Oct;9(4):303-5.

PMID:
11045594
6.

Multiple airway abnormalities in a patient with Rothmund-Thomson syndrome.

Hafidh MA, Sheahan P, Russell JD.

Int J Pediatr Otorhinolaryngol. 2004 Apr;68(4):469-72.

PMID:
15013615
7.

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
8.

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
9.

Rothmund-Thomson syndrome with osteosarcoma.

Drouin CA, Mongrain E, Sasseville D, Bouchard HL, Drouin M.

J Am Acad Dermatol. 1993 Feb;28(2 Pt 2):301-5. Review.

PMID:
8436644
10.

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
11.

Rothmund-Thomson syndrome: a case report.

Haytaç MC, Oztunç H, Mete UO, Kaya M.

Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2002 Oct;94(4):479-84.

PMID:
12374924
12.

[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
13.

Rothmund-Thomson syndrome and Addison disease.

Lapunzina P, Fonseca E, Gracia R, Delicado A.

Pediatr Dermatol. 1995 Jun;12(2):164-9.

PMID:
7659645
14.

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.

15.

Squamous cell carcinoma of the tongue in a patient with Rothmund-Thomson syndrome.

Marín-Bertolín S, Amorrortu-Velayos J, Aliaga Boniche A.

Br J Plast Surg. 1998 Dec;51(8):646-8.

PMID:
10209473
16.

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.

17.

An unusual patient with Rothmund-Thomson syndrome, porokeratosis and bilateral iris dysgenesis.

Mak RK, Griffiths WA, Mellerio JE.

Clin Exp Dermatol. 2006 May;31(3):401-3. Review.

PMID:
16681588
18.

[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
19.

Rothmund-Thomson syndrome: a report of two patients and a review of the literature.

Moss C.

Br J Dermatol. 1990 Jun;122(6):821-9. Review.

PMID:
2196075
20.

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

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