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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

Frontiers in oncology, 2023-10, Vol.13, p.1282823-1282823

2023

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Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studies

BMC neurology, 2021-10, Vol.21 (1), p.1-393, Article 393

2021

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Trichothiodystrophy hair shafts display distinct ultrastructural features

Experimental dermatology, 2022-08, Vol.31 (8), p.1270-1275

2022

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Cockayne syndrome, MEN1, and genomic variants: Exome sequencing is changing our view of the genetic landscape

Pediatric dermatology, 2021-07, Vol.38 (4), p.913-918

2021

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Ocular Manifestations of Xeroderma Pigmentosum

Ophthalmology (Rochester, Minn.), 2013-07, Vol.120 (7), p.1324-1336

2013

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Variant subtype of xeroderma pigmentosum diagnosed in a 77-year-old woman

JAAD Case Reports, 2018-11, Vol.4 (10), p.1074-1076

2018

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Enhancement of antioxidant and phase II enzymes by oral feeding of green tea polyphenols in drinking water to SKH-1 hairless mice: possible role in cancer chemoprevention

Cancer research (Chicago, Ill.), 1992-07, Vol.52 (14), p.4050-4052

1992

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Effect of Kerosene and Its Soot on the Chrysotile-Mediated Toxicity to the Rat Alveolar Macrophages

Environmental research, 1997-02, Vol.72 (2), p.151-161

1997

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Ras p21 Farnesylation in Ultraviolet B Radiation–Induced Tumors in The Skin of SKH-1 Hairless Mice

Journal of investigative dermatology, 1994-05, Vol.102 (5), p.754-758

1994

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HIGH RISK PREGNANCYAND NEONATAL COMPLICATIONSIN THE DNA REPAIR AND TRANSCRIPTION DISORDER TRICHOTHIODYSTROPHY: REPORT OF 27AFFECTED PREGNANCIES

Prenatal diagnosis, 2011-07, Vol.31 (11), p.1046-1053

2011

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Diminution in phase I and phase II drug metabolizing enzymes of rat lung by asbestos : an in vitro study

Bulletin of environmental contamination and toxicology, 1991-11, Vol.47 (5), p.660-667

1991

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Induction of chromosomal aberrations in bone marrow cells of asbestotic rats

Environmental research, 1992-04, Vol.57 (2), p.175-180

1992

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Protection against ultraviolet B radiation-induced effects in the skin of SKH-1 hairless mice by a polyphenolic fraction isolated from green tea

Photochemistry and photobiology, 1993-11, Vol.58 (5), p.695-700

1993

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Advance access published on december o, 2003 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

Human molecular genetics, 2004, Vol.13 (3), p.343-352

2004

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Cockayne syndrome, MEN1, and genomic variants: Exome sequencing is changing our view of the genetic landscape

Pediatric dermatology, 2021, Vol.38 (4), p.913-918

2021

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Relationship of Neurologic Degeneration to Genotype in Three Xeroderma Pigmentosum Group G Patients1

Journal of investigative dermatology, 2002-06, Vol.118 (6), p.972

2002

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Splice mutations in xeroderma pigmentosum group C DNA reduce their information content

Journal of dermatological science, 1998-03, Vol.16, p.S143-S143

1998

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Relationship of Neurologic Degeneration to Genotype in Three Xeroderma Pigmentosum Group G Patients11An abstract of this study was presented at the annual meeting of the Society for Investigative Dermatology, May 2000, Chicago, IL, and published in J Invest Dermatol 114:825, 2000

Journal of investigative dermatology, 2002-06, Vol.118 (6), p.972-982

2002

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Xeroderma Pigmentosum Group C Splice Mutation Associated with Autism and Hypoglycinemia11An abstract of this manuscript was presented at the annual meeting of the Society for Investigative Dermatology in Washington, DC

Journal of investigative dermatology, 1998-11, Vol.111 (5), p.791-796

1998

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Variant subtype of xeroderma pigmentosum diagnosed in a 77-year-old woman

JAAD case reports, 2018, Vol.4 (10), p.1074-1076

2018

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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

Molecular carcinogenesis, 1995-04, Vol.12 (4), p.205-212

1995

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Evidence for Multiple Inducible Cytochrome P450 Isozymes in Sencar Mouse Skin by Pyridine

Biochemical and biophysical research communications, 1994-03, Vol.199 (3), p.1400-1406

1994

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Diminution in phase I and phase II drug metabolizing enzymes of rat lung by asbestos: Anin vitro study

Bulletin of environmental contamination and toxicology, 1991-11, Vol.47 (5), p.660-667

1991

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Mutations in ras oncogenes: Rare events in ultraviolet B radiation-induced mouse skin tumorigenesis

Molecular carcinogenesis, 1996-02, Vol.15 (2), p.96-103

1996

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Mutations inras oncogenes: Rare events in ultraviolet B radiation-induced mouse skin tumorigenesis

Molecular carcinogenesis, 1996-02, Vol.15 (2), p.96-103

1996

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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

Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studies

Trichothiodystrophy hair shafts display distinct ultrastructural features

Cockayne syndrome, MEN1, and genomic variants: Exome sequencing is changing our view of the genetic landscape

Ocular Manifestations of Xeroderma Pigmentosum

Variant subtype of xeroderma pigmentosum diagnosed in a 77-year-old woman

Enhancement of antioxidant and phase II enzymes by oral feeding of green tea polyphenols in drinking water to SKH-1 hairless mice: possible role in cancer chemoprevention

Effect of Kerosene and Its Soot on the Chrysotile-Mediated Toxicity to the Rat Alveolar Macrophages

Ras p21 Farnesylation in Ultraviolet B Radiation–Induced Tumors in The Skin of SKH-1 Hairless Mice

HIGH RISK PREGNANCYAND NEONATAL COMPLICATIONSIN THE DNA REPAIR AND TRANSCRIPTION DISORDER TRICHOTHIODYSTROPHY: REPORT OF 27AFFECTED PREGNANCIES

Diminution in phase I and phase II drug metabolizing enzymes of rat lung by asbestos : an in vitro study

Induction of chromosomal aberrations in bone marrow cells of asbestotic rats

Protection against ultraviolet B radiation-induced effects in the skin of SKH-1 hairless mice by a polyphenolic fraction isolated from green tea

Advance access published on december o, 2003 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

Cockayne syndrome, MEN1, and genomic variants: Exome sequencing is changing our view of the genetic landscape

Relationship of Neurologic Degeneration to Genotype in Three Xeroderma Pigmentosum Group G Patients1

Splice mutations in xeroderma pigmentosum group C DNA reduce their information content

Relationship of Neurologic Degeneration to Genotype in Three Xeroderma Pigmentosum Group G Patients11An abstract of this study was presented at the annual meeting of the Society for Investigative Dermatology, May 2000, Chicago, IL, and published in J Invest Dermatol 114:825, 2000

Xeroderma Pigmentosum Group C Splice Mutation Associated with Autism and Hypoglycinemia11An abstract of this manuscript was presented at the annual meeting of the Society for Investigative Dermatology in Washington, DC

Variant subtype of xeroderma pigmentosum diagnosed in a 77-year-old woman

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

Evidence for Multiple Inducible Cytochrome P450 Isozymes in Sencar Mouse Skin by Pyridine

Diminution in phase I and phase II drug metabolizing enzymes of rat lung by asbestos: Anin vitro study

Mutations in ras oncogenes: Rare events in ultraviolet B radiation-induced mouse skin tumorigenesis

Mutations inras oncogenes: Rare events in ultraviolet B radiation-induced mouse skin tumorigenesis

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