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Quoted phrase not found in phrase index: "Coffin-Siris syndrome 10"
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Corpus callosum metrics predict severity of visuospatial and neuromotor dysfunctions in ARID1B mutations with Coffin-Siris syndrome.
Demily C, Duwime C, Lopez C, Hemimou C, Poisson A, Plasse J, Robert MP, Dénier C, Rossi M, Franck N, Besmond C, Barcia G, Boddaert N, Munnich A, Vaivre-Douret L. Demily C, et al. Psychiatr Genet. 2019 Dec;29(6):237-242. doi: 10.1097/YPG.0000000000000225. Psychiatr Genet. 2019. PMID: 30933046
ARID1B mutations in Coffin-Siris syndrome are a cause of intellectual disability (0.5-1%), with various degrees of autism and agenesis of the corpus callosum (10%). ...Here, we show that corpus callosum anomalies caused in ARID1B mutations may be predictiv …
ARID1B mutations in Coffin-Siris syndrome are a cause of intellectual disability (0.5-1%), with various degrees of auti …
The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.
Vandeweyer G, Helsmoortel C, Van Dijck A, Vulto-van Silfhout AT, Coe BP, Bernier R, Gerdts J, Rooms L, van den Ende J, Bakshi M, Wilson M, Nordgren A, Hendon LG, Abdulrahman OA, Romano C, de Vries BB, Kleefstra T, Eichler EE, Van der Aa N, Kooy RF. Vandeweyer G, et al. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):315-26. doi: 10.1002/ajmg.c.31413. Epub 2014 Aug 28. Am J Med Genet C Semin Med Genet. 2014. PMID: 25169753 Free PMC article.
While the mutational mechanism of the first 10 patients identified suggested a gain of function mechanism, an 11th patient reported here is predicted haploinsufficient. The latter observation may raise hope for therapy, as addition of NAP, a neuroprotective octapeptide nam …
While the mutational mechanism of the first 10 patients identified suggested a gain of function mechanism, an 11th patient reported here is …
Discovering candidate imprinted genes and imprinting control regions in the human genome.
Bina M. Bina M. BMC Genomics. 2020 May 31;21(1):378. doi: 10.1186/s12864-020-6688-8. BMC Genomics. 2020. PMID: 32475352 Free PMC article.
RESULTS: Because of the importance of the ICRs to regulating parent-of-origin specific gene expression, I developed a genome-wide strategy for predicting their positions in the human genome. My strategy consists of creating plots to display the density of ZFBS-morph overla …
RESULTS: Because of the importance of the ICRs to regulating parent-of-origin specific gene expression, I developed a genome-wide strategy f …