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Items: 20

1.

Rothmund-Thomson syndrome in siblings: evidence for acquired in vivo mosaicism.

Lindor NM, Devries EM, Michels VV, Schad CR, Jalal SM, Donovan KM, Smithson WA, Kvols LK, Thibodeau SN, Dewald GW.

Clin Genet. 1996 Mar;49(3):124-9.

PMID:
8737976
2.

Rothmund-Thomson syndrome.

Vennos EM, James WD.

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

PMID:
7712640
3.

Rothmund-Thomson syndrome: review of the world literature.

Vennos EM, Collins M, James WD.

J Am Acad Dermatol. 1992 Nov;27(5 Pt 1):750-62. Review.

PMID:
1430398
4.

Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications.

Yatsenko SA, Treadwell-Deering D, Krull K, Lewis RA, Glaze D, Stankiewicz P, Lupski JR, Potocki L.

Am J Med Genet A. 2005 Oct 1;138A(2):175-80. Review.

PMID:
16152635
5.

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
6.

Mosaic trisomy 22: a case presentation and literature review of trisomy 22 phenotypes.

Crowe CA, Schwartz S, Black CJ, Jaswaney V.

Am J Med Genet. 1997 Sep 5;71(4):406-13. Review.

PMID:
9286446
7.

Clinical and genetic heterogeneity in patients with mosaic variegated aneuploidy: delineation of clinical subtypes.

García-Castillo H, Vásquez-Velásquez AI, Rivera H, Barros-Núñez P.

Am J Med Genet A. 2008 Jul 1;146A(13):1687-95. doi: 10.1002/ajmg.a.32315. Review.

PMID:
18548531
8.

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.

9.

Prenatal diagnosis of trisomy 3 mosaicism.

Zaslav AL, Pierno G, Davis J, Fougner A, Jacob J, Kazi R, Blumenthal D, Sturim S, Shaham M, Fox J.

Prenat Diagn. 2004 Sep;24(9):693-6. Review.

PMID:
15386452
10.

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
11.

Familial ring (19) chromosome mosaicism: case report and review.

Flejter WL, Finlinson D, Root S, Nguyen W, Brothman AR, Viskochil D.

Am J Med Genet. 1996 Dec 18;66(3):276-80. Review.

PMID:
8985487
12.

Clinical, cytogenetic, and molecular findings in 45,X/47,XX,+18 mosaicism: clinical report and review of the literature.

Schubert R, Eggermann T, Hofstaetter C, von Netzer B, Knöpfle G, Schwanitz G.

Am J Med Genet. 2002 Jul 1;110(3):278-82. Review.

PMID:
12116238
13.

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
14.

Short root anomaly associated with Rothmund-Thomson syndrome.

Roinioti TD, Stefanopoulos PK.

Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007 Jan;103(1):e19-22. Epub 2006 Oct 24. Review.

PMID:
17178481
15.

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
16.

Osteosarcomatosis with Rothmund-Thomson syndrome.

el-Khoury JM, Haddad SN, Atallah NG.

Br J Radiol. 1997 Feb;70:215-8. Review.

PMID:
9135453
17.

Syndromes of premature aging.

Beauregard S, Gilchrest BA.

Dermatol Clin. 1987 Jan;5(1):109-21. Review.

PMID:
3549072
18.

Rothmund-Thomson syndrome and ocular surface findings: case reports and review of the literature.

Miranda AF, Rivera-Monge MD, Farias CC.

Arq Bras Oftalmol. 2016 May-Jun;79(3):186-8. doi: 10.5935/0004-2749.20160053. Review.

19.

Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders.

Lu L, Jin W, Wang LL.

Ageing Res Rev. 2017 Jan;33:30-35. doi: 10.1016/j.arr.2016.06.002. Epub 2016 Jun 7. Review.

PMID:
27287744
20.

[Amyloidosis and the skin].

Chodorowska G.

Przegl Dermatol. 1981 May-Jun;68(3):409-14. Review. Polish. No abstract available.

PMID:
7029665

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