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Pitt-Hopkins Syndrome (keyword)

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journal article EST / journal article ENG

Functional consequences of TCF4 missense substitutions associated with Pitt-Hopkins syndrome, mild intellectual disability, and schizophreniaSirp, Alex; Roots, Kaisa; Nurm, Kaja; Tuvikene, Jürgen; Sepp, Mari; Timmusk, TõnisThe journal of biological chemistry2021 / art. 101381 https://doi.org/10.1016/j.jbc.2021.101381 Journal metrics at Scopus Article at Scopus Journal metrics at WOS Article at WOS

journal article EST / journal article ENG
Seotud publikatsioonid 1
- Molecular characterization of basic helix-loop-helix transcription factor TCF4 : from expression to function = Aluselise heeliks-ling-heeliks transkriptsiooniteguri TCF4 ekspressiooni ja funktsiooni kirjeldamine
2

journal article

The intellectual disability and schizophrenia associated transcription factor TCF4 is regulated by neuronal activity and protein kinase ASepp, Mari; Vihma, Hanna; Nurm, Kaja; Urb, Mari; Page, Stephanie Cerceo; Roots, Kaisa; Hark, Anu; Maher, Brady J.; Pruunsild, Priit; Timmusk, TõnisJournal of neuroscience2017 / p. 10516-10527 : ill https://doi.org/10.1523/JNEUROSCI.1151-17.2017

journal article
3

journal article

Introducing Pitt-Hopkins syndrome-associated mutations of TCF4 to Drosophila daughterlessTamberg, Laura; Sepp, Mari; Timmusk, Tõnis; Palgi, MariBiology open2015 / p. 1762-1771 : ill http://dx.doi.org/10.1242/bio.014696

journal article
Seotud publikatsioonid 1
- Studies of the Drosophila basic helix-loop-helix transcription factor Daughterless and its mammalian homologue Transcription factor 4 = Äädikakärbse aluselise heeliks-ling-heeliks transkriptsioonifaktori Daughterless ja tema imetaja homoloogi Transkriptsioonifaktor 4 uuringud
4

book article

Introducing Pitt-Hopkins Syndrome-associated mutations of TCF4 to Drosophila daughterless : [conference paper]Palgi, Mari; Tamberg, Laura; Timmusk, TõnisVI Baltic Genetics Congress : September 30 - October 3, 2015, Institute of Molecular and Cell Biology, Tartu, Estonia : book of abstracts2015 / 1 p

book article
5

journal article

Partial deletion of TCF4 in three generation family with nonsyndromic intellectual disability, without features of Pitt-Hopkins syndromeKharbanda, Mira; Kannike, Kaja; Lampe, Anne; Berg, Jonathan; Timmusk, Tõnis; Sepp, MariEuropean journal of medical genetics2016 / p. 310-314 : ill http://dx.doi.org/10.1016/j.ejmg.2016.04.003

journal article

Number of records 5, displaying 1 - 5

1. Pitt-Hopkins Syndrome
2. Pitt–Hopkins syndrome
3. acquired von Willebrand syndrome
4. acute coronary syndrome
5. cardiorenal syndrome
6. Goodpasture syndrome
7. GRACILE syndrome
8. Metabolic syndrome
9. Monday morning e-mail syndrome
10. ovarian dysgenesis syndrome
11. polycystic ovary syndrome
12. sick-building syndrome
13. white Elephant syndrome
14. wolfram syndrome
15. “White elephant” syndrome

1. Hopkins, Cate
2. Hopkins, Mark A.

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