Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 202

Related Citations for PubMed (Select 7802014)

1.
2.

[Trichothiodystrophy: progresssive manifestations].

Foulc P, Jumbou O, David A, Sarasin A, Stalder JF.

Ann Dermatol Venereol. 1999 Oct;126(10):703-7. French.

3.

PIBI(D)S: clinical and molecular characterization of a new case.

Fortina AB, Alaibac M, Piaserico S, Peserico A.

J Eur Acad Dermatol Venereol. 2001 Jan;15(1):65-9. Review.

PMID:
11451329
4.

PIBI(D)S syndrome--trichothiodystrophy with xeroderma pigmentosum (group D) mutation.

Rebora A, Crovato F.

J Am Acad Dermatol. 1987 May;16(5 Pt 1):940-7.

PMID:
3584577
5.

Central nervous system dysmyelination in PIBI(D)S syndrome: a further case.

Battistella PA, Peserico A.

Childs Nerv Syst. 1996 Feb;12(2):110-3.

PMID:
8674078
6.

A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.

Weeda G, Eveno E, Donker I, Vermeulen W, Chevallier-Lagente O, Taïeb A, Stary A, Hoeijmakers JH, Mezzina M, Sarasin A.

Am J Hum Genet. 1997 Feb;60(2):320-9.

7.

Trichothiodystrophy: clinical spectrum, central nervous system imaging, and biochemical characterization of two siblings.

Chen E, Cleaver JE, Weber CA, Packman S, Barkovich AJ, Koch TK, Williams ML, Golabi M, Price VH.

J Invest Dermatol. 1994 Nov;103(5 Suppl):154S-158S.

PMID:
7963680
8.

DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient.

Takayama K, Danks DM, Salazar EP, Cleaver JE, Weber CA.

Hum Mutat. 1997;9(6):519-25.

PMID:
9195225
9.

Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity.

Stefanini M, Lagomarsini P, Arlett CF, Marinoni S, Borrone C, Crovato F, Trevisan G, Cordone G, Nuzzo F.

Hum Genet. 1986 Oct;74(2):107-12.

PMID:
3770739
10.

Trichothiodystrophy, a human DNA repair disorder with heterogeneity in the cellular response to ultraviolet light.

Lehmann AR, Arlett CF, Broughton BC, Harcourt SA, Steingrimsdottir H, Stefanini M, Malcolm A, Taylor R, Natarajan AT, Green S, et al.

Cancer Res. 1988 Nov 1;48(21):6090-6.

11.

Immune function, mutant frequency, and cancer risk in the DNA repair defective genodermatoses xeroderma pigmentosum, Cockayne's syndrome, and trichothiodystrophy.

Norris PG, Limb GA, Hamblin AS, Lehmann AR, Arlett CF, Cole J, Waugh AP, Hawk JL.

J Invest Dermatol. 1990 Jan;94(1):94-100.

PMID:
2295840
12.

Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition.

de Boer J, van Steeg H, Berg RJ, Garssen J, de Wit J, van Oostrum CT, Beems RB, van der Horst GT, van Kreijl CF, de Gruijl FR, Bootsma D, Hoeijmakers JH, Weeda G.

Cancer Res. 1999 Jul 15;59(14):3489-94.

13.

DNA repair deficient photodermatoses.

Lehmann AR, Norris PG.

Semin Dermatol. 1990 Mar;9(1):55-62. Review.

PMID:
2203444
14.

Correction by the ERCC2 gene of UV sensitivity and repair deficiency phenotype in a subset of trichothiodystrophy cells.

Mezzina M, Eveno E, Chevallier-Lagente O, Benoit A, Carreau M, Vermeulen W, Hoeijmakers JH, Stefanini M, Lehmann AR, Weber CA, et al.

Carcinogenesis. 1994 Aug;15(8):1493-8.

PMID:
8055625
15.

Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.

Graham JM Jr, Anyane-Yeboa K, Raams A, Appeldoorn E, Kleijer WJ, Garritsen VH, Busch D, Edersheim TG, Jaspers NG.

Am J Hum Genet. 2001 Aug;69(2):291-300. Epub 2001 Jul 3.

17.

Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.

Takayama K, Salazar EP, Broughton BC, Lehmann AR, Sarasin A, Thompson LH, Weber CA.

Am J Hum Genet. 1996 Feb;58(2):263-70.

18.

Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.

Stefanini M, Lagomarsini P, Giliani S, Nardo T, Botta E, Peserico A, Kleijer WJ, Lehmann AR, Sarasin A.

Carcinogenesis. 1993 Jun;14(6):1101-5.

PMID:
8508495
19.

Syndromes associated with trichothiodystrophy.

Tolmie JL, de Berker D, Dawber R, Galloway C, Gregory DW, Lehmann AR, McClure J, Pollitt RJ, Stephenson JB.

Clin Dysmorphol. 1994 Jan;3(1):1-14.

PMID:
8205320
20.

De Sanctis-Caccione syndrome: xeroderma pigmentosum with oligophrenia, short stature and neurologic disorders.

Niederauer HH, Bohnert E, Altmeyer P, Jung EG.

Hautarzt. 1992 Jan;43(1):25-7. German.

PMID:
1612905
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk