Found: 23
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Retrospective study of efficacy and adverse events of immune checkpoint inhibitors in 22 xeroderma pigmentosum patients with metastatic or unresectable cancers.
- Published in:
- Frontiers in Oncology, 2023, p. 1, doi. 10.3389/fonc.2023.1282823
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- Publication type:
- Article
Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3448, doi. 10.1002/ajmg.a.62962
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- Publication type:
- Article
Trichothiodystrophy hair shafts display distinct ultrastructural features.
- Published in:
- Experimental Dermatology, 2022, v. 31, n. 8, p. 1270, doi. 10.1111/exd.14614
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- Article
Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studies.
- Published in:
- 2021
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- Publication type:
- journal article
Cockayne syndrome, MEN1, and genomic variants: Exome sequencing is changing our view of the genetic landscape.
- Published in:
- Pediatric Dermatology, 2021, v. 38, n. 4, p. 913, doi. 10.1111/pde.14655
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- Publication type:
- Article
Mortality‐associated immunological abnormalities in trichothiodystrophy: correlation of reduced levels of immunoglobulin and neutrophils with poor patient survival.
- Published in:
- British Journal of Haematology, 2019, v. 185, n. 4, p. 752, doi. 10.1111/bjh.15598
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- Article
Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.
- Published in:
- 2019
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- Publication type:
- journal article
Four-dimensional, dynamic mosaicism is a hallmark of normal human skin that permits mapping of the organization and patterning of human epidermis during terminal differentiation.
- Published in:
- PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0198011
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- Publication type:
- Article
Mutations in the TTDN1 Gene Are Associated with a Distinct Trichothiodystrophy Phenotype.
- Published in:
- Journal of Investigative Dermatology, 2015, v. 135, n. 3, p. 734, doi. 10.1038/jid.2014.440
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- Publication type:
- Article
Phenotype Evolution in Xeroderma Pigmentosum/Cockayne Syndrome.
- Published in:
- 2014
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- Publication type:
- Abstract
Living with xeroderma pigmentosum: comprehensive photoprotection for highly photosensitive patients.
- Published in:
- Photodermatology, Photoimmunology & Photomedicine, 2014, v. 30, n. 2/3, p. 146, doi. 10.1111/phpp.12108
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- Publication type:
- Article
Chimeric Negative Regulation of p14ARF and TBX1 by a t(9;22) Translocation Associated with Melanoma, Deafness, and DNA Repair Deficiency.
- Published in:
- Human Mutation, 2013, v. 34, n. 9, p. 1250, doi. 10.1002/humu.22354
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- Publication type:
- Article
Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 8, p. 831, doi. 10.1038/ejhg.2012.246
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- Publication type:
- Article
Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration.
- Published in:
- 2013
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- Publication type:
- journal article
Auditory analysis of xeroderma pigmentosum 1971–2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 194, doi. 10.1093/brain/aws317
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- Publication type:
- Article
Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1308, doi. 10.1038/ejhg.2012.90
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- Publication type:
- Article
High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies.
- Published in:
- Prenatal Diagnosis, 2011, v. 31, n. 11, p. 1046, doi. 10.1002/pd.2829
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- Publication type:
- Article
Nucleotide Excision Repair Proteins Rapidly Accumulate but Fail to Persist in Human XP-E (DDB2 Mutant) Cells.
- Published in:
- Photochemistry & Photobiology, 2011, v. 87, n. 3, p. 729, doi. 10.1111/j.1751-1097.2011.00909.x
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- Publication type:
- Article
Multiple Skin Cancers in Adults with Mutations in the XP-E (DDB2) DNA Repair Gene.
- Published in:
- 2011
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- Publication type:
- Letter
Founder Mutations in Xeroderma Pigmentosum.
- Published in:
- Journal of Investigative Dermatology, 2010, v. 130, n. 6, p. 1491, doi. 10.1038/jid.2010.76
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- Publication type:
- Article
Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 ( XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.
- Published in:
- Human Mutation, 2008, v. 29, n. 10, p. 1194, doi. 10.1002/humu.20768
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- Publication type:
- Article
Xeroderma Pigmentosum-Variant Patients from America, Europe, and Asia.
- Published in:
- Journal of Investigative Dermatology, 2008, v. 128, n. 8, p. 2055, doi. 10.1038/jid.2008.48
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- Publication type:
- Article
Structural and Molecular Hair Abnormalities in Trichothiodystrophy.
- Published in:
- Journal of Investigative Dermatology, 2006, v. 126, n. 10, p. 2210, doi. 10.1038/sj.jid.5700384
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- Publication type:
- Article