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Congenital Heart Defects and Ciliopathies Associated With Renal Phenotypes.

Frontiers in pediatrics

Gabriel GC, Pazour GJ, Lo CW.
PMID: 29963541
Front Pediatr. 2018 Jun 15;6:175. doi: 10.3389/fped.2018.00175. eCollection 2018.

Congenital heart disease (CHD) is one of the most common birth defects, and recent studies indicate cilia-related mutations play a central role in the genetic etiology of CHD. As cilia are also known to have important roles in kidney...

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Gabriel GC, Pazour GJ, Lo CW. Congenital Heart Defects and Ciliopathies Associated With Renal Phenotypes. Front Pediatr. 2018;6:175doi: 10.3389/fped.2018.00175.
Gabriel, G. C., Pazour, G. J., & Lo, C. W. (2018). Congenital Heart Defects and Ciliopathies Associated With Renal Phenotypes. Frontiers in pediatrics, 6175. https://doi.org/10.3389/fped.2018.00175
Gabriel, George C, et al. "Congenital Heart Defects and Ciliopathies Associated With Renal Phenotypes." Frontiers in pediatrics vol. 6 (2018): 175. doi: https://doi.org/10.3389/fped.2018.00175
Gabriel GC, Pazour GJ, Lo CW. Congenital Heart Defects and Ciliopathies Associated With Renal Phenotypes. Front Pediatr. 2018 Jun 15;6:175. doi: 10.3389/fped.2018.00175. eCollection 2018. PMID: 29963541; PMCID: PMC6013576.
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Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease.

HGG advances

Teekakirikul P, Zhu W, Gabriel GC, Young CB, Williams K, Martin LJ, Hill JC, Richards T, Billaud M, Phillippi JA, Wang J, Wu Y, Tan T, Devine W, Lin JH, Bais AS, Klonowski J, de Bellaing AM, Saini A, Wang MX, Emerel L, Salamacha N, Wyman SK, Lee C, Sing Li H, Miron A, Zhang J, Xing J, McNamara DM, Fung E, Kirshbom P, Mahle W, Kochilas LK, He Y, Garg V, White P, McBride KL, Benson DW, Gleason TG, Mital S, Lo CW.
PMID: 34888534
HGG Adv. 2021 Jul 08;2(3). doi: 10.1016/j.xhgg.2021.100037. Epub 2021 Jul 29.

Bicuspid aortic valve (BAV) with ~1%-2% prevalence is the most common congenital heart defect (CHD). It frequently results in valve disease and aorta dilation and is a major cause of adult cardiac surgery. BAV is genetically linked to rare...

Cite
Teekakirikul P, Zhu W, Gabriel GC, et al. Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease. HGG Adv. 2021;2(3)doi: 10.1016/j.xhgg.2021.100037.
Teekakirikul, P., Zhu, W., Gabriel, G. C., Young, C. B., Williams, K., Martin, L. J., Hill, J. C., Richards, T., Billaud, M., Phillippi, J. A., Wang, J., Wu, Y., Tan, T., Devine, W., Lin, J. H., Bais, A. S., Klonowski, J., de Bellaing, A. M., Saini, A., Wang, M. X., Emerel, L., Salamacha, N., Wyman, S. K., Lee, C., Sing Li, H., Miron, A., Zhang, J., Xing, J., McNamara, D. M., Fung, E., Kirshbom, P., Mahle, W., Kochilas, L. K., He, Y., Garg, V., White, P., McBride, K. L., Benson, D. W., Gleason, T. G., Mital, S., & Lo, C. W. (2021). Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease. HGG advances, 2(3), . https://doi.org/10.1016/j.xhgg.2021.100037
Teekakirikul, Polakit, et al. "Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease." HGG advances vol. 2,3 (2021). doi: https://doi.org/10.1016/j.xhgg.2021.100037
Teekakirikul P, Zhu W, Gabriel GC, Young CB, Williams K, Martin LJ, Hill JC, Richards T, Billaud M, Phillippi JA, Wang J, Wu Y, Tan T, Devine W, Lin JH, Bais AS, Klonowski J, de Bellaing AM, Saini A, Wang MX, Emerel L, Salamacha N, Wyman SK, Lee C, Sing Li H, Miron A, Zhang J, Xing J, McNamara DM, Fung E, Kirshbom P, Mahle W, Kochilas LK, He Y, Garg V, White P, McBride KL, Benson DW, Gleason TG, Mital S, Lo CW. Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease. HGG Adv. 2021 Jul 08;2(3). doi: 10.1016/j.xhgg.2021.100037. Epub 2021 Jul 29. PMID: 34888534; PMCID: PMC8653519.
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Role of cilia in the pathogenesis of congenital heart disease.

Seminars in cell & developmental biology

Gabriel GC, Young CB, Lo CW.
PMID: 32418658
Semin Cell Dev Biol. 2021 Feb;110:2-10. doi: 10.1016/j.semcdb.2020.04.017. Epub 2020 May 14.

An essential role for cilia in the pathogenesis of congenital heart disease (CHD) has emerged from findings of a large-scale mouse forward genetic screen. High throughput screening with fetal ultrasound imaging followed by whole exome sequencing analysis recovered a...

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Gabriel GC, Young CB, Lo CW. Role of cilia in the pathogenesis of congenital heart disease. Semin Cell Dev Biol. 2020;110:2-10doi: 10.1016/j.semcdb.2020.04.017.
Gabriel, G. C., Young, C. B., & Lo, C. W. (2021). Role of cilia in the pathogenesis of congenital heart disease. Seminars in cell & developmental biology, 1102-10. https://doi.org/10.1016/j.semcdb.2020.04.017
Gabriel, George C, et al. "Role of cilia in the pathogenesis of congenital heart disease." Seminars in cell & developmental biology vol. 110 (2021): 2-10. doi: https://doi.org/10.1016/j.semcdb.2020.04.017
Gabriel GC, Young CB, Lo CW. Role of cilia in the pathogenesis of congenital heart disease. Semin Cell Dev Biol. 2021 Feb;110:2-10. doi: 10.1016/j.semcdb.2020.04.017. Epub 2020 May 14. PMID: 32418658; PMCID: PMC7906359.
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Genetics of Congenital Heart Disease.

Biomolecules

Williams K, Carson J, Lo C.
PMID: 31888141
Biomolecules. 2019 Dec 16;9(12). doi: 10.3390/biom9120879.

Congenital heart disease (CHD) is one of the most common birth defects. Studies in animal models and humans have indicated a genetic etiology for CHD. About 400 genes have been implicated in CHD, encompassing transcription factors, cell signaling molecules,...

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Williams K, Carson J, Lo C. Genetics of Congenital Heart Disease. Biomolecules. 2019;9(12)doi: 10.3390/biom9120879.
Williams, K., Carson, J., & Lo, C. (2019). Genetics of Congenital Heart Disease. Biomolecules, 9(12), . https://doi.org/10.3390/biom9120879
Williams, Kylia, et al. "Genetics of Congenital Heart Disease." Biomolecules vol. 9,12 (2019). doi: https://doi.org/10.3390/biom9120879
Williams K, Carson J, Lo C. Genetics of Congenital Heart Disease. Biomolecules. 2019 Dec 16;9(12). doi: 10.3390/biom9120879. PMID: 31888141; PMCID: PMC6995556.
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Novel insights into the genetic landscape of congenital heart disease with systems genetics.

Progress in pediatric cardiology

Gabriel GC, Lo CW.
PMID: 34404969
Prog Pediatr Cardiol. 2019 Sep;54. doi: 10.1016/j.ppedcard.2019.101128. Epub 2019 Jul 10.

We recently conducted a large-scale mouse mutagenesis screen and uncovered a central role for cilia in the pathogenesis of congenital heart disease (CHD). Though our screen was phenotype based, most of the genes recovered were cilia-related, including genes encoding...

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Gabriel GC, Lo CW. Novel insights into the genetic landscape of congenital heart disease with systems genetics. Prog Pediatr Cardiol. 2019;54doi: 10.1016/j.ppedcard.2019.101128.
Gabriel, G. C., & Lo, C. W. (2019). Novel insights into the genetic landscape of congenital heart disease with systems genetics. Progress in pediatric cardiology, 54. https://doi.org/10.1016/j.ppedcard.2019.101128
Gabriel, George C, and Lo, Cecilia W. "Novel insights into the genetic landscape of congenital heart disease with systems genetics." Progress in pediatric cardiology vol. 54 (2019). doi: https://doi.org/10.1016/j.ppedcard.2019.101128
Gabriel GC, Lo CW. Novel insights into the genetic landscape of congenital heart disease with systems genetics. Prog Pediatr Cardiol. 2019 Sep;54. doi: 10.1016/j.ppedcard.2019.101128. Epub 2019 Jul 10. PMID: 34404969; PMCID: PMC8366465.
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Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease.

HGG advances

Teekakirikul P, Zhu W, Gabriel GC, Young CB, Williams K, Martin LJ, Hill JC, Richards T, Billaud M, Phillippi JA, Wang J, Wu Y, Tan T, Devine W, Lin JH, Bais AS, Klonowski J, de Bellaing AM, Saini A, Wang MX, Emerel L, Salamacha N, Wyman SK, Lee C, Sing Li H, Miron A, Zhang J, Xing J, McNamara DM, Fung E, Kirshbom P, Mahle W, Kochilas LK, He Y, Garg V, White P, McBride KL, Benson DW, Gleason TG, Mital S, Lo CW.
PMID: 34888534
HGG Adv. 2021 Jul 08;2(3). doi: 10.1016/j.xhgg.2021.100037. Epub 2021 Jul 29.

Bicuspid aortic valve (BAV) with ~1%-2% prevalence is the most common congenital heart defect (CHD). It frequently results in valve disease and aorta dilation and is a major cause of adult cardiac surgery. BAV is genetically linked to rare...

Cite
Teekakirikul P, Zhu W, Gabriel GC, et al. Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease. HGG Adv. 2021;2(3)doi: 10.1016/j.xhgg.2021.100037.
Teekakirikul, P., Zhu, W., Gabriel, G. C., Young, C. B., Williams, K., Martin, L. J., Hill, J. C., Richards, T., Billaud, M., Phillippi, J. A., Wang, J., Wu, Y., Tan, T., Devine, W., Lin, J. H., Bais, A. S., Klonowski, J., de Bellaing, A. M., Saini, A., Wang, M. X., Emerel, L., Salamacha, N., Wyman, S. K., Lee, C., Sing Li, H., Miron, A., Zhang, J., Xing, J., McNamara, D. M., Fung, E., Kirshbom, P., Mahle, W., Kochilas, L. K., He, Y., Garg, V., White, P., McBride, K. L., Benson, D. W., Gleason, T. G., Mital, S., & Lo, C. W. (2021). Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease. HGG advances, 2(3), . https://doi.org/10.1016/j.xhgg.2021.100037
Teekakirikul, Polakit, et al. "Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease." HGG advances vol. 2,3 (2021). doi: https://doi.org/10.1016/j.xhgg.2021.100037
Teekakirikul P, Zhu W, Gabriel GC, Young CB, Williams K, Martin LJ, Hill JC, Richards T, Billaud M, Phillippi JA, Wang J, Wu Y, Tan T, Devine W, Lin JH, Bais AS, Klonowski J, de Bellaing AM, Saini A, Wang MX, Emerel L, Salamacha N, Wyman SK, Lee C, Sing Li H, Miron A, Zhang J, Xing J, McNamara DM, Fung E, Kirshbom P, Mahle W, Kochilas LK, He Y, Garg V, White P, McBride KL, Benson DW, Gleason TG, Mital S, Lo CW. Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease. HGG Adv. 2021 Jul 08;2(3). doi: 10.1016/j.xhgg.2021.100037. Epub 2021 Jul 29. PMID: 34888534; PMCID: PMC8653519.
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Showing 1 to 6 of 6 entries