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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2010 | 1 |
2018 | 1 |
2019 | 1 |
2020 | 1 |
2021 | 3 |
2022 | 2 |
2024 | 0 |
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7 results
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Page 1
Xeroderma Pigmentosum: A Model for Human Premature Aging.
J Invest Dermatol. 2021 Apr;141(4S):976-984. doi: 10.1016/j.jid.2020.11.012. Epub 2021 Jan 9.
J Invest Dermatol. 2021.
PMID: 33436302
Free PMC article.
Review.
Trichothiodystrophy hair shafts display distinct ultrastructural features.
Ioannidis AD, Khan SG, Tamura D, DiGiovanna JJ, Rizza E, Kraemer KH, Rice RH.
Ioannidis AD, et al.
Exp Dermatol. 2022 Aug;31(8):1270-1275. doi: 10.1111/exd.14614. Epub 2022 Jun 13.
Exp Dermatol. 2022.
PMID: 35615778
Free PMC article.
Item in Clipboard
Thyroid nodules in xeroderma pigmentosum patients: a feature of premature aging.
Kouatcheu SD, Marko J, Tamura D, Khan SG, Lee CR, DiGiovanna JJ, Kraemer KH.
Kouatcheu SD, et al.
J Endocrinol Invest. 2021 Jul;44(7):1475-1482. doi: 10.1007/s40618-020-01451-x. Epub 2020 Nov 5.
J Endocrinol Invest. 2021.
PMID: 33155181
Free PMC article.
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Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis.
DiGiovanna JJ, Randall G, Edelman A, Allawh R, Xiong M, Tamura D, Khan SG, Rizza ERH, Reynolds JC, Paul SM, Hill SC, Kraemer KH.
DiGiovanna JJ, et al.
Am J Med Genet A. 2022 Dec;188(12):3448-3462. doi: 10.1002/ajmg.a.62962. Epub 2022 Sep 14.
Am J Med Genet A. 2022.
PMID: 36103153
Free PMC article.
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Founder mutations in xeroderma pigmentosum.
Tamura D, DiGiovanna JJ, Kraemer KH.
Tamura D, et al.
J Invest Dermatol. 2010 Jun;130(6):1491-3. doi: 10.1038/jid.2010.76.
J Invest Dermatol. 2010.
PMID: 20463673
Free PMC article.
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Mortality-associated immunological abnormalities in trichothiodystrophy: correlation of reduced levels of immunoglobulin and neutrophils with poor patient survival.
Randall G, Kraemer KH, Pugh J, Tamura D, DiGiovanna JJ, Khan SG, Oetjen KA.
Randall G, et al.
Br J Haematol. 2019 May;185(4):752-754. doi: 10.1111/bjh.15598. Epub 2018 Oct 18.
Br J Haematol. 2019.
PMID: 30334570
Free PMC article.
No abstract available.
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Cockayne syndrome, MEN1, and genomic variants: Exome sequencing is changing our view of the genetic landscape.
Oska SR, Tamura D, Blau JE, Khan SG, Kraemer KH, DiGiovanna JJ.
Oska SR, et al.
Pediatr Dermatol. 2021 Jul;38(4):913-918. doi: 10.1111/pde.14655. Epub 2021 Jun 8.
Pediatr Dermatol. 2021.
PMID: 34105807
Free PMC article.
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