Search details
1.
Trichothiodystrophy hair shafts display distinct ultrastructural features.
Exp Dermatol
; 31(8): 1270-1275, 2022 08.
Article
in English
| 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.
Article
in English
| MEDLINE | ID: mdl-36103153
3.
Hydroa vacciniforme-like lymphoproliferative disorder: an EBV disease with a low risk of systemic illness in whites.
Blood
; 133(26): 2753-2764, 2019 06 27.
Article
in English
| MEDLINE | ID: mdl-31064750
4.
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.
Article
in English
| MEDLINE | ID: mdl-34627174
5.
Cockayne syndrome, MEN1, and genomic variants: Exome sequencing is changing our view of the genetic landscape.
Pediatr Dermatol
; 38(4): 913-918, 2021 Jul.
Article
in English
| MEDLINE | ID: mdl-34105807
6.
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.
Article
in English
| MEDLINE | ID: mdl-26996949
7.
Recurrent scarring papulovesicular lesions on sun-exposed skin in a 22-year-old man.
J Am Acad Dermatol
; 78(3): 637-642, 2018 03.
Article
in English
| MEDLINE | ID: mdl-28964535
8.
Predisposition to hematologic malignancies in patients with xeroderma pigmentosum.
Haematologica
; 105(4): e144-e146, 2020 04.
Article
in English
| MEDLINE | ID: mdl-31439674
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.
Article
in English
| 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.
Article
in English
| MEDLINE | ID: mdl-23365097
11.
Growth and nutrition in children with trichothiodystrophy.
J Pediatr Gastroenterol Nutr
; 59(4): 458-64, 2014 Oct.
Article
in English
| MEDLINE | ID: mdl-24918982
12.
Living with xeroderma pigmentosum: comprehensive photoprotection for highly photosensitive patients.
Photodermatol Photoimmunol Photomed
; 30(2-3): 146-52, 2014.
Article
in English
| MEDLINE | ID: mdl-24417420
13.
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.
Article
in English
| MEDLINE | ID: mdl-23661601
14.
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.
Article
in English
| MEDLINE | ID: mdl-23601806
15.
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.
Article
in English
| MEDLINE | ID: mdl-37954081
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.
Article
in English
| MEDLINE | ID: mdl-21097776
17.
Ocular manifestations of trichothiodystrophy.
Ophthalmology
; 118(12): 2335-42, 2011 Dec.
Article
in English
| MEDLINE | ID: mdl-21959366
18.
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.
Article
in English
| MEDLINE | ID: mdl-21800331
19.
Xeroderma Pigmentosum: A Model for Human Premature Aging.
J Invest Dermatol
; 141(4S): 976-984, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33436302
20.
Metronidazole-Induced Hepatitis in a Teenager With Xeroderma Pigmentosum and Trichothiodystrophy Overlap.
Pediatrics
; 148(4)2021 10.
Article
in English
| MEDLINE | ID: mdl-34593652