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Results by year

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

Year Number of Results
1976 3
1977 1
1980 4
1981 1
1982 1
1983 3
1984 1
1985 4
1986 1
1987 2
1988 2
1989 2
1990 4
1991 2
1992 3
1993 5
1994 7
1995 8
1996 4
1997 4
1998 4
1999 6
2000 11
2001 5
2002 8
2003 5
2004 7
2005 4
2006 9
2007 15
2008 11
2009 6
2010 3
2011 8
2012 6
2013 5
2014 5
2015 8
2016 4
2017 4
2018 5
2019 9
2020 7
2021 7
2022 1
2024 0

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Article type

Publication date

PubMed for id: 372079

204 results

Results by year

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Page 1
Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings.
Blanluet M, Chantot-Bastaraud S, Chambon P, Cassinari K, Vera G, Goldenberg A, Keren B, Le Meur N, Hannequin D, Mace B, Siffroi JP, Frebourg T, Nicolas G, Joly-Helas G. Blanluet M, et al. Am J Med Genet A. 2021 Oct;185(10):3057-3061. doi: 10.1002/ajmg.a.62361. Epub 2021 May 27. Am J Med Genet A. 2021. PMID: 34043868
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.
Giangiobbe S, Caraffi SG, Ivanovski I, Maini I, Pollazzon M, Rosato S, Trimarchi G, Lauriello A, Marinelli M, Nicoli D, Baldo C, Laurie S, Flores-Daboub J, Provenzano A, Andreucci E, Peluso F, Rizzo R, Stewart H, Lachlan K, Bayat A, Napoli M, Carboni G, Baker J, Mendel A, Piatelli G, Pantaleoni C, Mattina T, Prontera P, Mendelsohn NJ, Giglio S, Zuffardi O, Garavelli L. Giangiobbe S, et al. Am J Med Genet A. 2020 Dec;182(12):2877-2886. doi: 10.1002/ajmg.a.61859. Epub 2020 Oct 11. Am J Med Genet A. 2020. PMID: 33043602
KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations.
Al Dhaheri N, Wu N, Zhao S, Wu Z, Blank RD, Zhang J, Raggio C, Halanski M, Shen J, Noonan K, Qiu G, Nemeth B, Sund S, Dunwoodie SL, Chapman G, Glurich I, Steiner RD, Wohler E, Martin R, Sobreira NL, Giampietro PF. Al Dhaheri N, et al. Am J Med Genet A. 2020 Jul;182(7):1664-1672. doi: 10.1002/ajmg.a.61607. Epub 2020 May 5. Am J Med Genet A. 2020. PMID: 32369272 Free PMC article.
Allelic heterogeneity of Proteus syndrome.
Buser A, Lindhurst MJ, Kondolf HC, Yourick MR, Keppler-Noreuil KM, Sapp JC, Biesecker LG. Buser A, et al. Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3):a005181. doi: 10.1101/mcs.a005181. Print 2020 Jun. Cold Spring Harb Mol Case Stud. 2020. PMID: 32327430 Free PMC article.
204 results