Results 161 to 170 of about 5,781 (202)

Molecular genetic and pregnancy outcomes of fetuses with increased Nuchal Translucency. [PDF]

PLoS One
Cao L, Dong W, Huang X, Wu Q, Yang J, Lu J, Lin P, Chen X, Zheng X, Zeng X, Fu X.   +10 more
europepmc   +1 more source

Molecular insights into heart field-specific cardiomyocyte differentiation - A computational study. [PDF]

PLoS One
Zeegelaar R, Argyris G, Post JN.
europepmc   +1 more source

The systemic effects of 22q11.2 deletion syndrome on immunity. [PDF]

J Hum Immun
van Oers NSC, Sullivan KE.
europepmc   +1 more source

Genetic and Environmental Risk Factors for Autism Spectrum Disorder in Saudi Arabia: A Systematic Review. [PDF]

Cureus
Hamed NF, Alqahtani AM, Alshaibani F, Elsharif SM, Alamri SAS, Serhan A.   +5 more
europepmc   +1 more source

Emerging genes implicated in human congenital heart disease: a 2023-2025 scoping review. [PDF]

Transl Pediatr
Israel S, Morton SU.
europepmc   +1 more source

Identification of rare maternal copy number variants by genome-wide analysis of noninvasive prenatal screening data in 113,017 pregnant women. [PDF]

Ann Med
Hu L, Cao X, Zeng S, Wen L, Zhong J, Liu Y, Liu W, Wei F.   +7 more
europepmc   +1 more source

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Role of TBX1 in human del22q11.2 syndrome

Lancet, The, 2003
Del22q11.2 syndrome is the most frequent known chromosomal microdeletion syndrome, with an incidence of 1 in 4000-5000 livebirths. It is characterised by a 3-Mb deletion on chromosome 22q11.2, cardiac abnormalities, T-cell deficits, cleft palate facial anomalies, and hypocalcaemia. At least 30 genes have been mapped to the deleted region.
Takashi Sasaki, Hisato Yagi, Rumiko Matsuoka   +2 more
exaly   +3 more sources

Cloning and characterization of zebrafish tbx1

Gene Expression Patterns, 2003
Tbx1 is one of the genes within the DiGeorge Critical Region (DGCR) and has been recently identified as the critical gene for the cardiovascular anomalies in the DiGeorge mouse models. We have cloned, sequenced and analyzed the zebrafish (Danio rerio) tbx1 cDNA.
Lazaros K, Kochilas, Vijaya, Potluri, Aaron, Gitler, Krithika, Balasubramanian, Alvin J, Chin   +4 more
openaire   +2 more sources

Absence of the vagus nerve in the stomach of Tbx1−/− mutant mice

Neurogastroenterology and Motility, 2011
Tbx1 is a member of the Tbox family of binding domain transcription factors. TBX1 maps within the region of chromosome 22q11 deleted in humans with DiGeorge syndrome (DGS), a common genetic disorder characterized by numerous physical manifestations including craniofacial and cardiac anomalies.
Amélie Calmont, Peter J Scambler
exaly   +3 more sources