Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1993 1
1995 1
1996 2
1997 1
1998 1
2002 3
2003 2
2004 3
2005 3
2006 1
2007 2
2008 3
2009 3
2010 2
2011 4
2012 3
2013 1
2014 3
2015 6
2016 7
2017 3
2018 3
2019 3
2020 7
2021 5
2022 7
2023 0

Text availability

Article attribute

Article type

Publication date

PubMed for id: 330856

72 results

Results by year

Filters applied: . Clear all
Page 1
The first de novo non-mosaic 14q11.2q13.1 tetrasomy of paternal origin.
Tomaszewska A, Behrendt J, Boter M, Wawrzkiewicz-Witkowska A, Bos MJ, Podbiol-Palenta A, Godula-Stuglik U, Galjaard RJ, Srebniak MI. Tomaszewska A, et al. Am J Med Genet A. 2016 May;170A(5):1283-7. doi: 10.1002/ajmg.a.37565. Epub 2016 Jan 20. Am J Med Genet A. 2016. PMID: 26789739
Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation.
Corsello G, Salzano E, Vecchio D, Antona V, Grasso M, Malacarne M, Carella M, Palumbo P, Piro E, Giuffrè M. Corsello G, et al. Am J Med Genet A. 2015 Dec;167A(12):3130-8. doi: 10.1002/ajmg.a.37293. Epub 2015 Sep 3. Am J Med Genet A. 2015. PMID: 26333487
[When should evoke prenatal paternal uniparental disomy 14?].
Boiffard F, Bénéteau C, Quéré MP, Philippe HJ, Le Vaillant C. Boiffard F, et al. Gynecol Obstet Fertil. 2014 Apr;42(4):254-7. doi: 10.1016/j.gyobfe.2013.09.001. Epub 2014 Jan 3. Gynecol Obstet Fertil. 2014. PMID: 24394322 French.
Hepatoblastoma in an infant with paternal uniparental disomy 14.
Horii M, Horiuchi H, Momoeda M, Nakagawa M, Hirata M, Kusakawa I, Yamanaka M. Horii M, et al. Congenit Anom (Kyoto). 2012 Dec;52(4):219-20. doi: 10.1111/j.1741-4520.2012.00364.x. Congenit Anom (Kyoto). 2012. PMID: 23181499
Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes.
Kagami M, Sekita Y, Nishimura G, Irie M, Kato F, Okada M, Yamamori S, Kishimoto H, Nakayama M, Tanaka Y, Matsuoka K, Takahashi T, Noguchi M, Tanaka Y, Masumoto K, Utsunomiya T, Kouzan H, Komatsu Y, Ohashi H, Kurosawa K, Kosaki K, Ferguson-Smith AC, Ishino F, Ogata T. Kagami M, et al. Nat Genet. 2008 Feb;40(2):237-42. doi: 10.1038/ng.2007.56. Epub 2008 Jan 6. Nat Genet. 2008. PMID: 18176563
72 results