Detalhe da pesquisa
1.
Trichothiodystrophy hair shafts display distinct ultrastructural features.
Exp Dermatol
; 31(8): 1270-1275, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35615778
2.
Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis.
Am J Med Genet A
; 188(12): 3448-3462, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36103153
3.
Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studies.
BMC Neurol
; 21(1): 393, 2021 Oct 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34627174
4.
Cockayne syndrome, MEN1, and genomic variants: Exome sequencing is changing our view of the genetic landscape.
Pediatr Dermatol
; 38(4): 913-918, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34105807
5.
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.
Am J Hum Genet
; 98(4): 627-42, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26996949
6.
Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.
Proc Natl Acad Sci U S A
; 110(48): 19483-8, 2013 Nov 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-24218596
7.
Predisposition to hematologic malignancies in patients with xeroderma pigmentosum.
Haematologica
; 105(4): e144-e146, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31439674
8.
Readthrough of stop codons by use of aminoglycosides in cells from xeroderma pigmentosum group C patients.
Exp Dermatol
; 24(4): 296-7, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25651777
9.
Mortality-associated immunological abnormalities in trichothiodystrophy: correlation of reduced levels of immunoglobulin and neutrophils with poor patient survival.
Br J Haematol
; 185(4): 752-754, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30334570
10.
Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration.
Brain
; 136(Pt 1): 194-208, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23365097
11.
Living with xeroderma pigmentosum: comprehensive photoprotection for highly photosensitive patients.
Photodermatol Photoimmunol Photomed
; 30(2-3): 146-52, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24417420
12.
Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiency.
Hum Mutat
; 34(9): 1250-9, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23661601
13.
Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage.
Ophthalmology
; 120(7): 1324-36, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23601806
14.
Retrospective study of efficacy and adverse events of immune checkpoint inhibitors in 22 xeroderma pigmentosum patients with metastatic or unresectable cancers.
Front Oncol
; 13: 1282823, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37954081
15.
Xeroderma pigmentosum complementation group G patient with a novel homozygous missense mutation and no neurological abnormalities.
Exp Dermatol
; 21(4): 304-7, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22417308
16.
Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair.
J Med Genet
; 48(3): 168-76, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21097776
17.
Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas.
Proc Natl Acad Sci U S A
; 106(15): 6279-84, 2009 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-19329485
18.
Ocular manifestations of trichothiodystrophy.
Ophthalmology
; 118(12): 2335-42, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21959366
19.
High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies.
Prenat Diagn
; 31(11): 1046-53, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21800331
20.
Xeroderma Pigmentosum: A Model for Human Premature Aging.
J Invest Dermatol
; 141(4S): 976-984, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33436302