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Results by year

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

Year Number of Results
1998 3
1999 1
2000 2
2001 2
2002 4
2004 1
2005 1
2006 1
2007 1
2009 2
2010 2
2011 2
2012 4
2013 1
2015 5
2016 2
2017 2
2018 6
2019 6
2020 4
2021 7
2022 8
2023 3
2024 1

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PubMed for id: 9060

64 results

Results by year

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Page 1
PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.
Bownass L, Abbs S, Armstrong R, Baujat G, Behzadi G, Berentsen RD, Burren C, Calder A, Cormier-Daire V, Newbury-Ecob R, Foulds N, Juliusson PB, Kant SG, Lefroy H, Mehta SG, Merckoll E, Michot C, Monsell F, Offiah AC, Richards A, Rosendahl K, Rustad CF, Shears D, Tveten K, Wellesley D, Wordsworth P; Deciphering Developmental Disorders Study; Smithson S. Bownass L, et al. Am J Med Genet A. 2019 Sep;179(9):1884-1894. doi: 10.1002/ajmg.a.61282. Epub 2019 Jul 16. Am J Med Genet A. 2019. PMID: 31313512 Free article.
Gene Expression Differences Between Offspring of Long-Lived Individuals and Controls in Candidate Longevity Regions: Evidence for PAPSS2 as a Longevity Gene.
Yerges-Armstrong LM, Chai S, O'Connell JR, Curran JE, Blangero J, Mitchell BD, Shuldiner AR, Damcott CM. Yerges-Armstrong LM, et al. J Gerontol A Biol Sci Med Sci. 2016 Oct;71(10):1295-9. doi: 10.1093/gerona/glv212. Epub 2016 Feb 19. J Gerontol A Biol Sci Med Sci. 2016. PMID: 26896383 Free PMC article.
PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation--in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations.
Oostdijk W, Idkowiak J, Mueller JW, House PJ, Taylor AE, O'Reilly MW, Hughes BA, de Vries MC, Kant SG, Santen GW, Verkerk AJ, Uitterlinden AG, Wit JM, Losekoot M, Arlt W. Oostdijk W, et al. J Clin Endocrinol Metab. 2015 Apr;100(4):E672-80. doi: 10.1210/jc.2014-3556. Epub 2015 Jan 16. J Clin Endocrinol Metab. 2015. PMID: 25594860 Free PMC article.
PAPSS2 mutations cause autosomal recessive brachyolmia.
Miyake N, Elcioglu NH, Iida A, Isguven P, Dai J, Murakami N, Takamura K, Cho TJ, Kim OH, Hasegawa T, Nagai T, Ohashi H, Nishimura G, Matsumoto N, Ikegawa S. Miyake N, et al. J Med Genet. 2012 Aug;49(8):533-8. doi: 10.1136/jmedgenet-2012-101039. Epub 2012 Jul 11. J Med Genet. 2012. PMID: 22791835
Inactivating PAPSS2 mutations in a patient with premature pubarche.
Noordam C, Dhir V, McNelis JC, Schlereth F, Hanley NA, Krone N, Smeitink JA, Smeets R, Sweep FC, Claahsen-van der Grinten HL, Arlt W. Noordam C, et al. N Engl J Med. 2009 May 28;360(22):2310-8. doi: 10.1056/NEJMoa0810489. N Engl J Med. 2009. PMID: 19474428 Free article.
64 results