PMC Articles for MedGen (Select 868832) - PMC

Select item 88624631.

A new association of Oculoauriculovertebral spectrum and persistent fifth aortic arch -double lumen aorta: a case report

İsmail Balaban, Meltem Ceyhan Bilgici, Kemal Baysal

BMC Pediatr. 2022; 22: 102. Published online 2022 Feb 21. doi: 10.1186/s12887-022-03137-0

PMCID:: PMC8862463

Abstract Article PDF–1.5M

Select item 57592772.

Partial trisomy 16q21➔qter due to an unbalanced segregation of a maternally inherited balanced translocation 46,XX,t(15;16)(p13;q21): a case report and review of literature

R. Mishra, C. S. Paththinige, N. D. Sirisena, S. Nanayakkara, U. G. I. U. Kariyawasam, V. H. W. Dissanayake

BMC Pediatr. 2018; 18: 4. Published online 2018 Jan 8. doi: 10.1186/s12887-017-0980-z

PMCID:: PMC5759277

Abstract Article PDF–607K

Select item 48256663.

A HAND2 Loss-of-Function Mutation Causes Familial Ventricular Septal Defect and Pulmonary Stenosis

Yu-Min Sun, Jun Wang, Xing-Biao Qiu, Fang Yuan, Ruo-Gu Li, Ying-Jia Xu, Xin-Kai Qu, Hong-Yu Shi, Xu-Min Hou, Ri-Tai Huang, Song Xue, Yi-Qing Yang

G3 (Bethesda) 2016 Apr; 6(4): 987–992. Published online 2016 Feb 8. doi: 10.1534/g3.115.026518

PMCID:: PMC4825666

Abstract Article PDF–1.0M

Select item 45674794.

Potential Molecular Mechanism of Retrograde Aortic Arch Stenosis in the Hybrid Approach to Hypoplastic Left Heart Syndrome

Narutoshi Hibino, Mary J. Cismowski, Brenda J. Lilly, Patrick I. McConnell, Toshiharu Shinoka, John P. Cheatham, Pamela A. Lucchesi, Mark E. Galantowicz, Aaron J. Trask

Ann Thorac Surg. Author manuscript; available in PMC 2016 Sep 1.

Published in final edited form as: Ann Thorac Surg. 2015 Sep; 100(3): 1013–1020. Published online 2015 Jul 7. doi: 10.1016/j.athoracsur.2015.04.125

PMCID:: PMC4567479

Abstract Article PDF–268K

Select item 17290825.

Spectrum of congenital heart defects and extracardiac malformations associated with chromosomal abnormalities: results of a seven year necropsy study

C Tennstedt, R Chaoui, H Korner, M Dietel

Heart. 1999 Jul; 82(1): 34–39. doi: 10.1136/hrt.82.1.34

PMCID:: PMC1729082

Summary PDF–97K

Select item 10510576.

Unusual traits associated with Robinow syndrome.

M A Sabry, E A Ismail, R L al-Naggar, N A al-Torki, S Farah, S A al-Awadi, D Obenbergerova, L Bastaki

J Med Genet. 1997 Sep; 34(9): 736–740. doi: 10.1136/jmg.34.9.736

PMCID:: PMC1051057

Summary Page Browse PDF–2.8M

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