PubMed (Bookshelf cited) for id: 376352

Year	Number of Results
1985	1
1987	1
1988	1
1994	2
1997	1
1998	1
1999	1
2000	2
2001	3
2004	3
2005	1
2006	4
2007	3
2008	4
2009	7
2010	7
2011	2
2012	6
2013	6
2014	3
2015	5
2016	6
2017	4
2018	3
2019	4
2020	3
2021	4
2022	1
2024	0

1

Increased risk of internal tumors in DNA repair-deficient xeroderma pigmentosum patients: analysis of four international cohorts.

Nikolaev S, Yurchenko AA, Sarasin A. Nikolaev S, et al. Orphanet J Rare Dis. 2022 Mar 4;17(1):104. doi: 10.1186/s13023-022-02203-1. Orphanet J Rare Dis. 2022. PMID: 35246173 Free PMC article.

2

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

Lehky TJ, Sackstein P, Tamura D, Quezado M, Wu T, Khan SG, Patronas NJ, Wiggs E, Brewer CC, DiGiovanna JJ, Kraemer KH. Lehky TJ, et al. BMC Neurol. 2021 Oct 9;21(1):393. doi: 10.1186/s12883-021-02414-2. BMC Neurol. 2021. PMID: 34627174 Free PMC article.

3

Xeroderma Pigmentosum: Gene Variants and Splice Variants.

Martens MC, Emmert S, Boeckmann L. Martens MC, et al. Genes (Basel). 2021 Jul 29;12(8):1173. doi: 10.3390/genes12081173. Genes (Basel). 2021. PMID: 34440347 Free PMC article. Review.

4

Xeroderma Pigmentosum: A Model for Human Premature Aging.

Rizza ERH, DiGiovanna JJ, Khan SG, Tamura D, Jeskey JD, Kraemer KH. Rizza ERH, et al. 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.

5

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.

6

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting.

Stenson PD, Mort M, Ball EV, Chapman M, Evans K, Azevedo L, Hayden M, Heywood S, Millar DS, Phillips AD, Cooper DN. Stenson PD, et al. Hum Genet. 2020 Oct;139(10):1197-1207. doi: 10.1007/s00439-020-02199-3. Epub 2020 Jun 28. Hum Genet. 2020. PMID: 32596782 Free PMC article. Review.

7

How history and geography may explain the distribution in the Comorian archipelago of a novel mutation in DNA repair-deficient xeroderma pigmentosum patients.

Sarasin A, Munier P, Cartault F. Sarasin A, et al. Genet Mol Biol. 2019 Dec 13;43(1 suppl 1):e20190046. doi: 10.1590/1678-4685-GMB-2019-0046. eCollection 2019. Genet Mol Biol. 2019. PMID: 31930276 Free PMC article.

8

Reproductive Health in Xeroderma Pigmentosum: Features of Premature Aging.

Merideth M, Tamura D, Angra D, Khan SG, Ferrell J, Goldstein AM, DiGiovanna JJ, Kraemer KH. Merideth M, et al. Obstet Gynecol. 2019 Oct;134(4):814-819. doi: 10.1097/AOG.0000000000003490. Obstet Gynecol. 2019. PMID: 31503159 Free PMC article.

9

Predisposition to hematologic malignancies in patients with xeroderma pigmentosum.

Oetjen KA, Levoska MA, Tamura D, Ito S, Douglas D, Khan SG, Calvo KR, Kraemer KH, DiGiovanna JJ. Oetjen KA, et al. Haematologica. 2020 Apr;105(4):e144-e146. doi: 10.3324/haematol.2019.223370. Epub 2019 Aug 22. Haematologica. 2020. PMID: 31439674 Free PMC article. No abstract available.

10

Familial predisposition to TP53/complex karyotype MDS and leukemia in DNA repair-deficient xeroderma pigmentosum.

Sarasin A, Quentin S, Droin N, Sahbatou M, Saada V, Auger N, Boursin Y, Dessen P, Raimbault A, Asnafi V, Schmutz JL, Taïeb A, Menck CFM, Rosselli F, La Rochelle LD, Robert C, Sicre de Fontbrune F, Sébert M, Leblanc T, Kannouche P, De Botton S, Solary E, Soulier J. Sarasin A, et al. Blood. 2019 Jun 20;133(25):2718-2724. doi: 10.1182/blood-2019-01-895698. Epub 2019 Mar 26. Blood. 2019. PMID: 30914417 Free PMC article.

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