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Items: 1 to 20 of 173

1.

Clonal lines of aneuploid cells in Rothmund-Thomson syndrome.

Der Kaloustian VM, McGill JJ, Vekemans M, Kopelman HR.

Am J Med Genet. 1990 Nov;37(3):336-9.

PMID:
2260560
2.

Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome.

Orstavik KH, McFadden N, Hagelsteen J, Ormerod E, van der Hagen CB.

J Med Genet. 1994 Jul;31(7):570-2.

3.

[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
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
7.

A case of Rothmund-Thomson syndrome with reduced DNA repair capacity.

Shinya A, Nishigori C, Moriwaki S, Takebe H, Kubota M, Ogino A, Imamura S.

Arch Dermatol. 1993 Mar;129(3):332-6.

PMID:
8447670
8.

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
9.

Poikiloderma, alopecia, retrognathism and cleft palate: the PARC syndrome. Is this an undescribed dominantly inherited syndrome?

Verloes A, Soyeur-Broux M, Arrese-Estrada J, Piérard-Franchimont C, Dodinval P, Piérard GE.

Dermatologica. 1990;181(2):142-4.

PMID:
2242783
10.

The poikiloderma of Rothmund-Thomson syndrome: changes in Langerhans cell morphology and distribution.

Sillevis Smitt JH, Gons MH, Oorthuys JW, Krieg SR, Bos JD.

Dermatologica. 1989;179(4):187-90.

PMID:
2533569
11.

Rothmund-Thomson syndrome associated with trisomy 8 mosaicism.

Ying KL, Oizumi J, Curry CJ.

J Med Genet. 1990 Apr;27(4):258-60.

12.

Rothmund-Thomson syndrome in two siblings.

Nanda A, Kanwar AJ, Kapoor MM, Thappa DM, Radotra BD, Vaishnavi C, Kaur S.

Pediatr Dermatol. 1989 Dec;6(4):325-8.

PMID:
2616390
13.

Additional chromosome in a child as a result of a balanced reciprocal translocation t(12;18)(p13;q12) in his mother's karyotype.

Lassota M, Przełozna B, Płodzien M, Bugno M, Wnuk M, Kotylak Z, Słota E.

J Appl Genet. 2005;46(4):419-21.

PMID:
16278518
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.

Chromosomal instability in fibroblasts and mesenchymal tumors from 2 sibs with Rothmund-Thomson syndrome.

Miozzo M, Castorina P, Riva P, Dalprà L, Fuhrman Conti AM, Volpi L, Hoe TS, Khoo A, Wiegant J, Rosenberg C, Larizza L.

Int J Cancer. 1998 Aug 12;77(4):504-10.

16.

[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
17.

[Rothmund syndrome or Thomson syndrome. An analysis of the literature exemplified by a personal case].

Vanscheidt E, Wolff G, Niederhoff H, Greiner P.

Monatsschr Kinderheilkd. 1988 May;136(5):264-9. Review. German.

PMID:
3043208
18.

Rothmund-Thomson syndrome.

Vennos EM, James WD.

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

PMID:
7712640
19.

Rothmund-Thomson syndrome in fraternal twins.

Tong M.

Pediatr Dermatol. 1995 Jun;12(2):134-7.

PMID:
7659639
20.

Rothmund Thomson syndrome (poikiloderma congenita) in two sisters.

Srivastava RN, Azami S, Bhan MK, Choudhry VP, Menon PS.

Indian Pediatr. 1979 Aug;16(8):715-8. No abstract available.

PMID:
546775
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