Found: 63
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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
Knowledge is power.
- Published in:
- British Journal of Dermatology, 2022, v. 186, n. 4, p. 607, doi. 10.1111/bjd.21008
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- Article
Development and Initial Validation of a Novel System to Assess Ichthyosis Severity.
- Published in:
- 2022
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- Publication type:
- journal 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
Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents.
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- Pediatric Dermatology, 2021, v. 38, n. 1, p. 164, doi. 10.1111/pde.14408
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- Publication type:
- Article
A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1278, doi. 10.1002/ajmg.a.61542
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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.
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- 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
Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome.
- Published in:
- 2015
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- Publication type:
- journal 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
Forty Years of Research on Xeroderma Pigmentosum at the US National Institutes of Health.
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- Photochemistry & Photobiology, 2015, v. 91, n. 2, p. 452, doi. 10.1111/php.12345
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- Publication type:
- Article
Phenotype Evolution in Xeroderma Pigmentosum/Cockayne Syndrome.
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- 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
Fluorouracil and Other Predictors of Morpheaform Basal Cell Carcinoma Among High-Risk Patients: The Veterans Affairs Topical Tretinoin Chemoprevention Trial.
- Published in:
- JAMA Dermatology, 2014, v. 150, n. 3, p. 332, doi. 10.1001/jamadermatol.2013.5619
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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
Systemic retinoids in the management of ichthyoses and related skin types.
- Published in:
- Dermatologic Therapy, 2013, v. 26, n. 1, p. 26, doi. 10.1111/j.1529-8019.2012.01527.x
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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
Tretinoin and the Prevention of Keratinocyte Carcinoma (Basal and Squamous Cell Carcinoma of the Skin): A Veterans Affairs Randomized Chemoprevention Trial.
- Published in:
- Journal of Investigative Dermatology, 2012, v. 132, n. 6, p. 1583, doi. 10.1038/jid.2011.483
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- Publication type:
- Article
Shining a Light on Xeroderma Pigmentosum.
- Published in:
- Journal of Investigative Dermatology, 2012, v. 132, n. 3 part 2, p. 785, doi. 10.1038/jid.2011.426
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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.
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- 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.
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- 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
Genetic Diversity in Melanoma Metastases from a Patient with Xeroderma Pigmentosum.
- Published in:
- 2010
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- Publication type:
- Letter
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
KRT14 Haploinsufficiency Results in Increased Susceptibility of Keratinocytes to TNF-α-Induced Apoptosis and Causes Naegeli–Franceschetti–Jadassohn Syndrome.
- Published in:
- Journal of Investigative Dermatology, 2008, v. 128, n. 6, p. 1517, doi. 10.1038/sj.jid.5701187
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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
Skin cancer chemoprevention with systemic retinoids: an adjunct in the management of selected high-risk patients.
- Published in:
- Dermatologic Therapy, 2006, v. 19, n. 5, p. 306, doi. 10.1111/j.1529-8019.2006.00088.x
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- Publication type:
- Article
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.
- Published in:
- Nature Genetics, 2006, v. 38, n. 4, p. 441, doi. 10.1038/ng1767
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- Publication type:
- Article
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
- Published in:
- Nature Genetics, 2006, v. 38, n. 3, p. 337, doi. 10.1038/ng1743
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- Publication type:
- Article
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
Retinoid Chemoprevention in High-Risk Skin Cancer Patients.
- Published in:
- Dermatology Nursing, 2004, v. 16, n. 2, p. 117
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- Publication type:
- Article
Peter M. Steinert, 1945–2003.
- Published in:
- Journal of Investigative Dermatology, 2003, v. 121, n. 3, p. iv, doi. 10.1046/j.1523-1747.2003.12457.x
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- Publication type:
- Article
Genetic Heterogeneity in Erythrokeratodermia Variabilis: Novel Mutations in the Connexin Gene GJB4 (Cx30.3)and Genotype--Phenotype Correlations.
- Published in:
- Journal of Investigative Dermatology, 2003, v. 120, n. 4, p. 601, doi. 10.1046/j.1523-1747.2003.12080.x
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- Publication type:
- Article
Ichthyosis: Etiology, Diagnosis, and Management.
- Published in:
- American Journal of Clinical Dermatology, 2003, v. 4, n. 2, p. 81, doi. 10.2165/00128071-200304020-00002
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- Publication type:
- Article
Mapping of the associated phenotype of an absent granular layer in ichthyosis vulgaris to the epidermal differentiation complex on chromosome 1.
- Published in:
- Experimental Dermatology, 2002, v. 11, n. 6, p. 518, doi. 10.1034/j.1600-0625.2002.110604.x
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- Publication type:
- Article
Refined Mapping of Naegeli–Franceschetti– Jadassohn Syndrome to a 6 cM Interval on Chromosome 17q11.2-q21 and Investigation of Candidate Genes.
- Published in:
- Journal of Investigative Dermatology, 2002, v. 119, n. 3, p. 692, doi. 10.1046/j.1523-1747.2002.01855.x
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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
The Spectrum of Pathogenic Mutations in SPINK5 in 19 Families with Netherton Syndrome: Implications for Mutation Detection and First Case of Prenatal Diagnosis.
- Published in:
- Journal of Investigative Dermatology, 2001, v. 117, n. 2, p. 179, doi. 10.1046/j.1523-1747.2001.01389.x
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- Publication type:
- Article
Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies.
- Published in:
- Human Genetics, 2000, v. 106, n. 5, p. 492, doi. 10.1007/s004390000284
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- Publication type:
- Article
Netherton Syndrome is Not Linked to 18q12, a Region Homologous to the Murine Lanceolate Hair (lah) Locus.
- Published in:
- Journal of Investigative Dermatology, 2000, v. 114, n. 4, p. 741, doi. 10.1046/j.1523-1747.2000.00932-3.x
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- Publication type:
- Article