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Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1975 5
1976 1
1977 1
1978 7
1979 4
1980 4
1981 4
1982 1
1983 4
1984 3
1985 3
1986 6
1987 5
1988 4
1989 7
1990 14
1991 12
1992 19
1993 30
1994 20
1995 17
1996 21
1997 15
1998 37
1999 34
2000 43
2001 36
2002 46
2003 47
2004 43
2005 51
2006 55
2007 55
2008 52
2009 48
2010 62
2011 65
2012 62
2013 64
2014 61
2015 73
2016 67
2017 74
2018 60
2019 70
2020 99
2021 93
2022 95
2023 86
2024 33

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Article type

Publication date

PubMed for id: 10819

1,665 results

Results by year

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Page 1
Rothmund-Thomson syndrome, a disorder far from solved.
Martins DJ, Di Lazzaro Filho R, Bertola DR, Hoch NC. Martins DJ, et al. Front Aging. 2023 Nov 10;4:1296409. doi: 10.3389/fragi.2023.1296409. eCollection 2023. Front Aging. 2023. PMID: 38021400 Free PMC article. Review.
Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome.
Di Lazzaro Filho R, Yamamoto GL, Silva TJ, Rocha LA, Linnenkamp BDW, Castro MAA, Bartholdi D, Schaller A, Leeb T, Kelmann S, Utagawa CY, Steiner CE, Steinmetz L, Honjo RS, Kim CA, Wang L, Abourjaili-Bilodeau R, Campeau PM, Warman M, Passos-Bueno MR, Hoch NC, Bertola DR. Di Lazzaro Filho R, et al. J Med Genet. 2023 Nov;60(11):1127-1132. doi: 10.1136/jmg-2022-109119. Epub 2023 Apr 13. J Med Genet. 2023. PMID: 37055165
A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome.
Marmolejo Castañeda DH, Cruellas Lapeña M, Carrasco López E, Aparicio Español G, Valverde Morales C, López-Fernández A, Pérez Ballesteros E, Torres-Esquius S, Pardo Muñoz M, Balmaña Gelpi J. Marmolejo Castañeda DH, et al. Fam Cancer. 2023 Jan;22(1):99-102. doi: 10.1007/s10689-022-00303-2. Epub 2022 Jul 4. Fam Cancer. 2023. PMID: 35781852
Rothmund-Thomson syndrome investigated by two nationwide surveys in Japan.
Kaneko H, Takemoto M, Murakami H, Ihara K, Kosaki R, Motegi SI, Taniguchi A, Matsuo M, Yamazaki N, Nishigori C, Takita J, Koshizaka M, Maezawa Y, Yokote K. Kaneko H, et al. Pediatr Int. 2022 Jan;64(1):e15120. doi: 10.1111/ped.15120. Pediatr Int. 2022. PMID: 35616152
Patient-derived iPSCs link elevated mitochondrial respiratory complex I function to osteosarcoma in Rothmund-Thomson syndrome.
Jewell BE, Xu A, Zhu D, Huang MF, Lu L, Liu M, Underwood EL, Park JH, Fan H, Gingold JA, Zhou R, Tu J, Huo Z, Liu Y, Jin W, Chen YH, Xu Y, Chen SH, Rainusso N, Berg NK, Bazer DA, Vellano C, Jones P, Eltzschig HK, Zhao Z, Kaipparettu BA, Zhao R, Wang LL, Lee DF. Jewell BE, et al. PLoS Genet. 2021 Dec 29;17(12):e1009971. doi: 10.1371/journal.pgen.1009971. eCollection 2021 Dec. PLoS Genet. 2021. PMID: 34965247 Free PMC article.
1,665 results