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

Year Number of Results
1978 1
1989 1
1991 1
1995 1
1997 1
1998 2
2000 2
2002 3
2003 2
2004 5
2005 7
2006 9
2007 6
2008 5
2009 6
2010 10
2011 9
2012 11
2013 7
2014 8
2015 9
2016 5
2017 11
2018 7
2019 8
2020 10
2021 5
2022 2
2024 0

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PubMed (Bookshelf cited) for id: 331400

129 results

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Page 1
Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an "HHT-like" syndrome in children.
Hodgson J, Ruiz-Llorente L, McDonald J, Quarrell O, Ugonna K, Bentham J, Mason R, Martin J, Moore D, Bergstrom K, Bayrak-Toydemir P, Wooderchak-Donahue W, Morrell NW, Condliffe R, Bernabeu C, Upton PD. Hodgson J, et al. Mol Genet Genomic Med. 2021 Dec;9(12):e1685. doi: 10.1002/mgg3.1685. Epub 2021 Apr 9. Mol Genet Genomic Med. 2021. PMID: 33834622 Free PMC article.
mTOR inhibitors reduce enteropathy, intestinal bleeding and colectomy rate in patients with juvenile polyposis of infancy with PTEN-BMPR1A deletion.
Taylor H, Yerlioglu D, Phen C, Ballauff A, Nedelkopoulou N, Spier I, Loverdos I, Busoni VB, Heise J, Dale P, de Meij T, Sweet K, Cohen MC, Fox VL, Mas E, Aretz S, Eng C, Buderus S, Thomson M, Rojas I, Uhlig HH. Taylor H, et al. Hum Mol Genet. 2021 Jun 26;30(14):1273-1282. doi: 10.1093/hmg/ddab094. Hum Mol Genet. 2021. PMID: 33822054 Free PMC article.
Phenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing SMAD4/BMPR1A Variant.
MacFarland SP, Ebrahimzadeh JE, Zelley K, Begum L, Bass LM, Brand RE, Dudley B, Fishman DS, Ganzak A, Karloski E, Latham A, Llor X, Plon S, Riordan MK, Scollon SR, Stadler ZK, Syngal S, Ukaegbu C, Weiss JM, Yurgelun MB, Brodeur GM, Mamula P, Katona BW. MacFarland SP, et al. Cancer Prev Res (Phila). 2021 Feb;14(2):215-222. doi: 10.1158/1940-6207.CAPR-20-0348. Epub 2020 Oct 23. Cancer Prev Res (Phila). 2021. PMID: 33097490 Free PMC article.
Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia.
Faughnan ME, Mager JJ, Hetts SW, Palda VA, Lang-Robertson K, Buscarini E, Deslandres E, Kasthuri RS, Lausman A, Poetker D, Ratjen F, Chesnutt MS, Clancy M, Whitehead KJ, Al-Samkari H, Chakinala M, Conrad M, Cortes D, Crocione C, Darling J, de Gussem E, Derksen C, Dupuis-Girod S, Foy P, Geisthoff U, Gossage JR, Hammill A, Heimdal K, Henderson K, Iyer VN, Kjeldsen AD, Komiyama M, Korenblatt K, McDonald J, McMahon J, McWilliams J, Meek ME, Mei-Zahav M, Olitsky S, Palmer S, Pantalone R, Piccirillo JF, Plahn B, Porteous MEM, Post MC, Radovanovic I, Rochon PJ, Rodriguez-Lopez J, Sabba C, Serra M, Shovlin C, Sprecher D, White AJ, Winship I, Zarrabeitia R. Faughnan ME, et al. Ann Intern Med. 2020 Dec 15;173(12):989-1001. doi: 10.7326/M20-1443. Epub 2020 Sep 8. Ann Intern Med. 2020. PMID: 32894695 Free article.
Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers.
Blatter R, Tschupp B, Aretz S, Bernstein I, Colas C, Evans DG, Genuardi M, Hes FJ, Hüneburg R, Järvinen H, Lalloo F, Moeslein G, Renkonen-Sinisalo L, Resta N, Spier I, Varvara D, Vasen H, Latchford AR, Heinimann K. Blatter R, et al. Genet Med. 2020 Sep;22(9):1524-1532. doi: 10.1038/s41436-020-0826-1. Epub 2020 May 13. Genet Med. 2020. PMID: 32398773 Free PMC article.
129 results