Results 131 to 140 of about 4,659 (176)

Genetics of Congenital Heart Disease: A Narrative Review of Challenges and Strategies in Identifying Novel Genes. [PDF]

Cureus
Rao E, Annavarapu S.
europepmc   +1 more source

Correlation between 22q11.2 deletion syndrome phenotype and deletion location: a meta-analysis. [PDF]

Arch Gynecol Obstet
Li J, Wang R, Liu L, Zhao J, Zhao Y, Liu F, Zhu M, Feng C, Zhao Y.   +8 more
europepmc   +1 more source

Bone morphogenetic proteins 4 and 7 increase human white and brown adipocyte thermogenic capacity. [PDF]

JCI Insight
Long KT, Cero C, Ali SL, Nguyen N, Guarnieri AR, Kim JH, Bahn YJ, Heymann J, Dreyfuss JM, Rane SG, Tseng YH, Cypess AM.   +11 more
europepmc   +1 more source

Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report. [PDF]

BMC Med Genomics
Kasmi Z, Ain El Hayat I, Aadam Z, Errami A, Benhsaien I, El Bakkouri J, Ben Sabbahia D, Atrassi M, Bousfiha AA, Ailal F.   +9 more
europepmc   +1 more source

Highly demarcated structural alterations in the brain and impaired social incentive learning in Tbx1 heterozygous mice. [PDF]

Mol Psychiatry
Hiramoto T, Sumiyoshi A, Kato R, Yamauchi T, Takano T, Kang G, Esparza M, Matsumura B, Stevens LJ, Hiroi YJ, Tanifuji T, Ryoke R, Nonaka H, Machida A, Nomoto K, Mogi K, Kikusui T, Kawashima R, Hiroi N.   +18 more
europepmc   +1 more source

Logic-based modeling of biological networks with Netflux. [PDF]

PLoS Comput Biol
Clark AP, Chowkwale M, Paap A, Dang S, Saucerman JJ.   +4 more
europepmc   +1 more source

Ccar1 prevents β-catenin nuclear translocation to sustain ground-state pluripotency in mouse ESCs under R2i. [PDF]

Biochem Biophys Rep
Taleahmad S, Abbasinia H, Samadian A, Molamohammadi S, Baharvand H.   +4 more
europepmc   +1 more source

Case Report: From imaging to genetics: a case of congenital restrictive strabismus with SEOM expands the 22q11.2 duplication syndrome phenotype. [PDF]

Front Med (Lausanne)
Wei X, Gao R, Xie R.
europepmc   +1 more source

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Tbx1

Current topics in developmental biology, 2017
Recent data have paved the way to mechanistic studies into the role of Tbx1 during development. Tbx1 is haploinsufficient and is involved in an important genetic disorder. The gene encodes a T-box transcription factor that is expressed from approximately E7.5 in mouse embryos and continues to be expressed in a highly dynamic manner.
A. Baldini, F.G. Fulcoli, E. Illingworth
openaire   +4 more sources