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
2001 2
2005 1
2006 1
2007 1
2008 1
2009 3
2010 1
2011 1
2012 2
2013 4
2014 5
2015 9
2016 10
2017 17
2018 12
2019 12
2020 17
2021 16
2022 17
2023 6
2024 0

Text availability

Article attribute

Article type

Publication date

Similar articles for PMID: 31206972

110 results

Results by year

Filters applied: . Clear all
Page 1
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Frints SGM, Hennig F, Colombo R, Jacquemont S, Terhal P, Zimmerman HH, Hunt D, Mendelsohn BA, Kordaß U, Webster R, Sinnema M, Abdul-Rahman O, Suckow V, Fernández-Jaén A, van Roozendaal K, Stevens SJC, Macville MVE, Al-Nasiry S, van Gassen K, Utzig N, Koudijs SM, McGregor L, Maas SM, Baralle D, Dixit A, Wieacker P, Lee M, Lee AS, Engle EC, Houge G, Gradek GA, Douglas AGL, Longman C, Joss S, Velasco D, Hennekam RC, Hirata H, Kalscheuer VM. Frints SGM, et al. Hum Mutat. 2019 Dec;40(12):2270-2285. doi: 10.1002/humu.23841. Epub 2019 Aug 21. Hum Mutat. 2019. PMID: 31206972 Free PMC article.
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.
Hirata H, Nanda I, van Riesen A, McMichael G, Hu H, Hambrock M, Papon MA, Fischer U, Marouillat S, Ding C, Alirol S, Bienek M, Preisler-Adams S, Grimme A, Seelow D, Webster R, Haan E, MacLennan A, Stenzel W, Yap TY, Gardner A, Nguyen LS, Shaw M, Lebrun N, Haas SA, Kress W, Haaf T, Schellenberger E, Chelly J, Viot G, Shaffer LG, Rosenfeld JA, Kramer N, Falk R, El-Khechen D, Escobar LF, Hennekam R, Wieacker P, Hübner C, Ropers HH, Gecz J, Schuelke M, Laumonnier F, Kalscheuer VM. Hirata H, et al. Am J Hum Genet. 2013 May 2;92(5):681-95. doi: 10.1016/j.ajhg.2013.03.021. Epub 2013 Apr 25. Am J Hum Genet. 2013. PMID: 23623388 Free PMC article.
A novel ZC4H2 variant in a female with severe respiratory complications.
Wakabayashi T, Mizukami M, Terada K, Ishikawa A, Hinotsu S, Kobayashi M, Kato K, Ogi T, Tsugawa T, Sakurai A. Wakabayashi T, et al. Brain Dev. 2022 Sep;44(8):571-577. doi: 10.1016/j.braindev.2022.04.009. Epub 2022 Apr 30. Brain Dev. 2022. PMID: 35504761
Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report.
Piccolo G, d'Annunzio G, Amadori E, Riva A, Borgia P, Tortora D, Maghnie M, Minetti C, Gitto E, Iacomino M, Baldassari S, Fiorillo C, Zara F, Striano P, Salpietro V. Piccolo G, et al. Front Neurol. 2021 Jul 12;12:704747. doi: 10.3389/fneur.2021.704747. eCollection 2021. Front Neurol. 2021. PMID: 34322088 Free PMC article.
110 results