Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 103

1.

Rothmund-Thomson syndrome and glomerulonephritis in a homozygous C1q-deficient patient due to a Gly164Ser C1qC mutation.

López-Lera A, Torres-Canizales JM, Garrido S, Morales A, López-Trascasa M.

J Invest Dermatol. 2014 Apr;134(4):1152-1154. doi: 10.1038/jid.2013.444. Epub 2013 Oct 24. No abstract available.

2.

A Rothmund-Thomson case with hypertension.

Dechenne C, Chantraine JM, Davin JC.

Clin Genet. 1983 Oct;24(4):266-72.

PMID:
6641003
3.

Familial C1q deficiency associated with renal and cutaneous disease.

Leyva-Cobián F, Moneo I, Mampaso F, Sánchez-Bayle M, Ecija JL, Bootello A.

Clin Exp Immunol. 1981 Apr;44(1):173-80.

4.

The ophthalmic manifestations of Rothmund's syndrome.

Kirkham TH, Werner EB.

Can J Ophthalmol. 1975 Jan;10(1):1-14. No abstract available.

PMID:
1122410
5.

[Rothmund-Thomson syndrome (case report)].

Fritsche HJ.

Beitr Orthop Traumatol. 1986 Aug;33(8):369-74. German. No abstract available.

PMID:
3767937
6.

Rothmund-Thomson syndrome associated with trisomy 8 mosaicism.

Ying KL, Oizumi J, Curry CJ.

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

7.

[Rothmund's syndrome: observations in one case].

Ourgaud A, Payan H, Giraud F, Mattei JF, Merlihot JM, Pommier de Santi P.

J Genet Hum. 1976 Nov;24 Suppl:151-64. French. No abstract available.

PMID:
1025264
8.

[Rothmund-Thomson syndrome. Apropos of 4 cases].

Sfar Z, Rihane E, Kamoun MR.

Ann Pediatr (Paris). 1988 Sep;35(7):501-6. French. No abstract available.

PMID:
3178114
9.

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
10.

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.

11.

Rothmund-Thomson syndrome with severe dwarfism.

Hall JG, Pagon RA, Wilson KM.

Am J Dis Child. 1980 Feb;134(2):165-9.

PMID:
7352442
12.

Rothmund-Thomson syndrome in a young man without cataract involvement.

Esfandiarpoor I, Shamsadini S, Farajzadeh S.

East Mediterr Health J. 2004 Jan-Mar;10(1-2):225-7. No abstract available.

PMID:
16201731
13.

[Renal lesions in a case of Rothmund-Thomson disease (proceedings)].

Chantraine JM, Brumioul D, Dechenne C.

J Urol Nephrol (Paris). 1979 Apr-May;85(4-5):334. French. No abstract available.

PMID:
90154
14.

[Rothmund-Thompson syndrome with glaucoma. Endocrine study].

Nathanson M, Dandine M, Gaudelus J, Mousset S, Lasry D, Perelman R.

Sem Hop. 1983 Dec 22;59(48):3379-84. French.

PMID:
6318363
15.

[Rothmund's syndrome].

Bechelli LM, Pagnano PM, Tanaka AM, Trad ES, Pimenta WP.

Ann Dermatol Venereol. 1984;111(8):667-8. French. No abstract available.

PMID:
6529085
16.

[Rothmund-Thomson syndrome. Apropos of a case].

Costet C, Lods F, Ortonne JP, Elbaze P.

Bull Soc Ophtalmol Fr. 1985 May;85(5):651-3. French. No abstract available.

PMID:
3879670
17.

[Rothmund's syndrome. A propos of a case].

Ourgaud A, Merlihot JM, Alessi F, Pommier De Santi P.

Bull Soc Ophtalmol Fr. 1975 May-Jun;75(5-6):721-6. French. No abstract available.

PMID:
1212791
18.

[Thomson-type congenital poikiloderma with major bone dysplasias].

Febrer Bosch MI, Martinez Aparicio A, Clemente Garcia J, Aliaga Boniche A.

Ann Dermatol Venereol. 1984;111(5):429-33. French.

PMID:
6476724
19.

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.

20.

[On a case of Thomson's syndrome and epidermolysis bullosa dystrophica-like skin changes].

Salamon T, Bogdanović B, Lazović O.

Arch Klin Exp Dermatol. 1966 Jun 13;225(2):194-206. German. No abstract available.

PMID:
5991617

Supplemental Content

Support Center