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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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- Publication type:
- 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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- Publication type:
- 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
Readthrough of stop codons by use of aminoglycosides in cells from xeroderma pigmentosum group C patients.
- Published in:
- Experimental Dermatology, 2015, v. 24, n. 4, p. 296, doi. 10.1111/exd.12655
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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
High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients.
- Published in:
- Pigment Cell & Melanoma Research, 2014, v. 27, n. 3, p. 454, doi. 10.1111/pcmr.12226
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- Publication type:
- Article
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:
- 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
Xeroderma pigmentosum complementation group G patient with a novel homozygous missense mutation and no neurological abnormalities.
- Published in:
- Experimental Dermatology, 2012, v. 21, n. 4, p. 304, doi. 10.1111/j.1600-0625.2012.01446.x
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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
XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients.
- Published in:
- Human Mutation, 2010, v. 31, n. 2, p. 167, doi. 10.1002/humu.21166
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- Publication type:
- Article
Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2).
- Published in:
- Experimental Dermatology, 2009, v. 18, n. 1, p. 64, doi. 10.1111/j.1600-0625.2008.00763.x
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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
Phenotypic heterogeneity in the XPB DNA helicase gene ( ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.
- Published in:
- Human Mutation, 2006, v. 27, n. 11, p. 1092, doi. 10.1002/humu.20392
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- Publication type:
- Article
A Novel Complex Insertion/Deletion Mutation in the XPC DNA Repair Gene Leads to Skin Cancer in an Iraqi Family.
- Published in:
- 2006
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- Publication type:
- Letter
Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.
- Published in:
- Carcinogenesis, 2006, v. 27, n. 1, p. 84
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- Publication type:
- Article
Assessment of 3 xeroderma pigmentosum group C gene polymorphisms and risk of cutaneous melanoma: a case–control study.
- Published in:
- Carcinogenesis, 2005, v. 26, n. 6, p. 1085, doi. 10.1093/carcin/bgi055
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- Publication type:
- Article
No association between three xeroderma pigmentosum group C and one group G gene polymorphisms and risk of cutaneous melanoma.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 2, p. 253, doi. 10.1038/sj.ejhg.5201296
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- Publication type:
- Article
Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 3, p. 343
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- Publication type:
- Article
The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function.
- Published in:
- Nucleic Acids Research, 2002, v. 30, n. 16, p. 3624, doi. 10.1093/nar/gkf469
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- Publication type:
- Article
Relationship of Neurologic Degeneration to Genotype in Three Xeroderma Pigmentosum Group G Patients<sup>1</sup>.
- Published in:
- Journal of Investigative Dermatology, 2002, v. 118, n. 6, p. 972, doi. 10.1046/j.1523-1747.2002.01782.x
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- Publication type:
- Article
A Stop Codon in Xeroderma Pigmentosum Group C Families in Turkey and Italy: Molecular Genetic Evidence for a Common Ancestor.
- Published in:
- Journal of Investigative Dermatology, 2001, v. 117, n. 2, p. 197, doi. 10.1046/j.1523-1747.2001.01424.x
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- Publication type:
- Article
Clinical, Cellular, and Molecular Features of an Israeli Xeroderma Pigmentosum Family with a Frameshift Mutation in the XPC Gene: Sun Protection Prolongs Life.
- Published in:
- Journal of Investigative Dermatology, 2000, v. 115, n. 6, p. 974, doi. 10.1046/j.1523-1747.2000.00190.x
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- Publication type:
- Article
A new xeroderma pigmentosum group C poly(AT) insertion/deletion polymorphism.
- Published in:
- Carcinogenesis, 2000, v. 21, n. 10, p. 1821, doi. 10.1093/carcin/21.10.1821
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- Publication type:
- Article
Xeroderma Pigmentosum Group C Splice Mutation Associated with Autism and Hypoglycinemia<sup>1</sup>.
- Published in:
- Journal of Investigative Dermatology, 1998, v. 111, n. 5, p. 791, doi. 10.1046/j.1523-1747.1998.00391.x
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- Publication type:
- Article
Mutations in ras oncogenes: Rare events in ultraviolet B radiation-induced mouse skin tumorigenesis.
- Published in:
- Molecular Carcinogenesis, 1996, v. 15, n. 2, p. 96, doi. 10.1002/(SICI)1098-2744(199602)15:2<96::AID-MC2>3.0.CO;2-P
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- Publication type:
- Article
Inhibition of ras p21 membrane localization and modulation of protein kinase C isozyme expression during regression of chemical carcinogen-induced murine skin tumors by lovastatin.
- Published in:
- Molecular Carcinogenesis, 1995, v. 12, n. 4, p. 205, doi. 10.1002/mc.2940120405
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- Publication type:
- Article
Ras p21 Farnesylation in Ultraviolet B Radiation--Induced Tumors in The Skin of SKH-1 Hairless Mice.
- Published in:
- Journal of Investigative Dermatology, 1994, v. 102, n. 5, p. 754, doi. 10.1111/1523-1747.ep12377020
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- Publication type:
- Article
PROTECTION AGAINST ULTRAVIOLET B RADIATION-INDUCED EFFECTS IN THE SKIN OF SKH-1 HAIRLESS MICE BY A POLYPHENOLIC FRACTION ISOLATED FROM GREEN TEA.
- Published in:
- Photochemistry & Photobiology, 1993, v. 58, n. 5, p. 695, doi. 10.1111/j.1751-1097.1993.tb04954.x
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- Publication type:
- Article
Ras protein p21 processing enzyme farnesyltransferase in chemical carcinogen-induced murine skin tumors.
- Published in:
- Molecular Carcinogenesis, 1993, v. 8, n. 4, p. 290, doi. 10.1002/mc.2940080412
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- Publication type:
- Article