PMC Articles for MedGen (Select 892804) - PMC

Select item 110430421.

Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population

Hisao Yaoita, Eiichiro Kawai, Jun Takayama, Shinya Iwasawa, Naoya Saijo, Masayuki Abiko, Kouta Suzuki, Masato Kimura, Akira Ozawa, Gen Tamiya, Shigeo Kure, Atsuo Kikuchi

J Hum Genet. 2024; 69(5): 177–183. Published online 2024 Feb 13. doi: 10.1038/s10038-024-01223-y

Correction in:: J Hum Genet. 2024; 69(5): 185.

PMCID:: PMC11043042

Abstract Article PDF–1.1M

Select item 66922372.

Divergent Roles of Plexin D1 in Cancer

Sneha Vivekanandhan, Debabrata Mukhopadhyay

Biochim Biophys Acta Rev Cancer. Author manuscript; available in PMC 2020 Aug 1.

Published in final edited form as: Biochim Biophys Acta Rev Cancer. 2019 Aug; 1872(1): 103–110. Published online 2019 May 30. doi: 10.1016/j.bbcan.2019.05.004

PMCID:: PMC6692237

Abstract Article PDF–808K

Select item 65504243.

Gata4 regulates hedgehog signaling and Gata6 expression for outflow tract development

Jielin Liu, Henghui Cheng, Menglan Xiang, Lun Zhou, Bingruo Wu, Ivan P. Moskowitz, Ke Zhang, Linglin Xie

PLoS Genet. 2019 May; 15(5): e1007711. Published online 2019 May 23. doi: 10.1371/journal.pgen.1007711

PMCID:: PMC6550424

Abstract Article PDF–9.7M

Select item 53863014.

Reduced dosage of β-catenin provides significant rescue of cardiac outflow tract anomalies in a Tbx1 conditional null mouse model of 22q11.2 deletion syndrome

Silvia E. Racedo, Erica Hasten, Mingyan Lin, Gnanapackiam Sheela Devakanmalai, Tingwei Guo, Ertugrul M. Ozbudak, Chen-Leng Cai, Deyou Zheng, Bernice E. Morrow

PLoS Genet. 2017 Mar; 13(3): e1006687. Published online 2017 Mar 27. doi: 10.1371/journal.pgen.1006687

PMCID:: PMC5386301

Abstract Article PDF–3.3M

Select item 48963935.

46,XY Disorders of Sex Development and Congenital Diaphragmatic Hernia: A Case with Dysmorphic Facies, Truncus Arteriosus, Bifid Thymus, Gut Malrotation, Rhizomelia, and Adactyly

Edward D. Esplin, Hassan Chaib, Michael Haney, Brock Martin, Margaret Homeyer, Alexander E. Urban, Jonathan A. Bernstein

Am J Med Genet A. Author manuscript; available in PMC 2016 Jun 7.

Published in final edited form as: Am J Med Genet A. 2015 Jun; 167(6): 1360–1364. Published online 2015 Apr 21. doi: 10.1002/ajmg.a.37037

PMCID:: PMC4896393

Abstract Article PDF–291K

Select item 48391296.

Neonatal diabetes and protein losing enteropathy: a case report

Tamara McMillan, Rose Girgis, Elizabeth A. C. Sellers

BMC Med Genet. 2016; 17: 32. Published online 2016 Apr 21. doi: 10.1186/s12881-016-0296-0

PMCID:: PMC4839129

Abstract Article PDF–375K

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