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Results by year

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

Year Number of Results
1982 1
1999 1
2000 1
2004 1
2006 1
2007 1
2009 1
2010 2
2011 2
2013 3
2014 5
2015 1
2016 1
2018 2
2019 3
2020 2
2024 0

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PubMed for Bookshelf ID: 3300172

25 results

Results by year

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Page 1
Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.
Grange DK, Roessler HI, McClenaghan C, Duran K, Shields K, Remedi MS, Knoers NVAM, Lee JM, Kirk EP, Scurr I, Smithson SF, Singh GK, van Haelst MM, Nichols CG, van Haaften G. Grange DK, et al. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):658-681. doi: 10.1002/ajmg.c.31753. Am J Med Genet C Semin Med Genet. 2019. PMID: 31828977 Free PMC article.
Cantu syndrome and hypopituitarism: implications for endocrine monitoring.
Theis NJ, Calvert T, McIntyre P, Robertson SP, Wheeler BJ. Theis NJ, et al. Endocrinol Diabetes Metab Case Rep. 2019 Nov 12;2019:19-0103. doi: 10.1530/EDM-19-0103. Online ahead of print. Endocrinol Diabetes Metab Case Rep. 2019. PMID: 31743099 Free PMC article.
ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9.
Smeland MF, McClenaghan C, Roessler HI, Savelberg S, Hansen GÅM, Hjellnes H, Arntzen KA, Müller KI, Dybesland AR, Harter T, Sala-Rabanal M, Emfinger CH, Huang Y, Singareddy SS, Gunn J, Wozniak DF, Kovacs A, Massink M, Tessadori F, Kamel SM, Bakkers J, Remedi MS, Van Ghelue M, Nichols CG, van Haaften G. Smeland MF, et al. Nat Commun. 2019 Oct 1;10(1):4457. doi: 10.1038/s41467-019-12428-7. Nat Commun. 2019. PMID: 31575858 Free PMC article.
Cantú syndrome with coexisting familial pituitary adenoma.
Marques P, Spencer R, Morrison PJ, Carr IM, Dang MN, Bonthron DT, Hunter S, Korbonits M. Marques P, et al. Endocrine. 2018 Mar;59(3):677-684. doi: 10.1007/s12020-017-1497-9. Epub 2018 Jan 11. Endocrine. 2018. PMID: 29327300 Free PMC article.
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Richards S, et al. Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5. Genet Med. 2015. PMID: 25741868 Free PMC article.
25 results