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Results by year

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

Year Number of Results
1948 1
1966 2
1969 1
1970 1
1974 1
1979 1
1982 1
1986 1
1989 1
1992 1
1993 3
1994 1
1995 2
1996 2
1997 4
1998 7
1999 2
2000 1
2001 3
2002 3
2003 2
2004 4
2005 6
2006 2
2007 3
2013 1
2015 1
2016 1
2023 0

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PubMed (OMIM) Links for id: 657

58 results

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Page 1
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.
D'Alessandro LC, Al Turki S, Manickaraj AK, Manase D, Mulder BJ, Bergin L, Rosenberg HC, Mondal T, Gordon E, Lougheed J, Smythe J, Devriendt K, Bhattacharya S, Watkins H, Bentham J, Bowdin S, Hurles ME, Mital S. D'Alessandro LC, et al. Genet Med. 2016 Feb;18(2):189-98. doi: 10.1038/gim.2015.60. Epub 2015 May 21. Genet Med. 2016. PMID: 25996639 Free PMC article.
High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.
Aretz S, Stienen D, Uhlhaas S, Stolte M, Entius MM, Loff S, Back W, Kaufmann A, Keller KM, Blaas SH, Siebert R, Vogt S, Spranger S, Holinski-Feder E, Sunde L, Propping P, Friedl W. Aretz S, et al. J Med Genet. 2007 Nov;44(11):702-9. doi: 10.1136/jmg.2007.052506. Epub 2007 Sep 14. J Med Genet. 2007. PMID: 17873119 Free PMC article.
Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes.
Delnatte C, Sanlaville D, Mougenot JF, Vermeesch JR, Houdayer C, Blois MC, Genevieve D, Goulet O, Fryns JP, Jaubert F, Vekemans M, Lyonnet S, Romana S, Eng C, Stoppa-Lyonnet D. Delnatte C, et al. Am J Hum Genet. 2006 Jun;78(6):1066-74. doi: 10.1086/504301. Epub 2006 Apr 14. Am J Hum Genet. 2006. PMID: 16685657 Free PMC article.
58 results