PMC Articles for MedGen (Select 584787) - PMC

Links from MedGen

Items: 1 to 20 of 42

<< First< Prev

Page of 3

Select item 111104231.

Complex genotype–phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes

Xiaojiao Wei, Yunting Ma, Bobo Xie, Chunrong Gui, Meizhen Shi, Xianda Wei, Yan Huang, Xin Fan, Qiaozhen Wei, Qingmei Huang, Li Deng, Chi Zhang, Xiaoli Deng, Baoheng Gui, Yujun Chen

BMC Med Genomics. 2024; 17: 135. Published online 2024 May 21. doi: 10.1186/s12920-024-01908-5

PMCID:: PMC11110423

Article PDF–1.6M

Select item 108727212.

Loss of Baz1b in mice causes perinatal lethality, growth failure, and variable multi-system outcomes

Christopher Pai, Basil A. McIntosh, Russell H. Knutsen, Mark D. Levin, Kit Man Tsang, Beth A. Kozel, Robert O. Heuckeroth

Dev Biol. Author manuscript; available in PMC 2025 Jan 1.

Published in final edited form as: Dev Biol. 2024 Jan; 505: 42–57. Published online 2023 Oct 11. doi: 10.1016/j.ydbio.2023.09.007

PMCID:: PMC10872721

Article PDF–2.5M

Select item 107893583.

Multiple vascular malformations in a newborn

P. Krcho, J. Derco, M. Juhas, S.M. Donn

J Neonatal Perinatal Med. 2023; 16(4): 731–734. Prepublished online 2023 Dec 1. Published online 2023 Dec 18. doi: 10.3233/NPM-230097

PMCID:: PMC10789358

Article PDF–772K

Select item 107667424.

Giant Patent Ductus Arteriosus Aneurysm Compressing the Esophagus

Soichiro Henmi, Chikashi Nakai, So Izumi, Yutaka Nakashima, Takuro Tsukube

Ann Vasc Dis. 2023 Dec 25; 16(4): 265–267. Published online 2023 Sep 28. doi: 10.3400/avd.avd.cr.23-00047

PMCID:: PMC10766742

Article PDF–1.6M

Select item 106430045.

A novel role for PGE₂-EP₄ in the developmental programming of the mouse ductus arteriosus: consequences for vessel maturation and function

Michael T. Yarboro, Naoko Boatwright, Deanna C. Sekulich, Christopher W. Hooper, Ting Wong, Stanley D. Poole, Courtney D. Berger, Alexus J. Brown, Christopher S. Jetter, Jennifer M. S. Sucre, Elaine L. Shelton, Jeff Reese

Am J Physiol Heart Circ Physiol. 2023 Oct 1; 325(4): H687–H701. Published online 2023 Aug 11. doi: 10.1152/ajpheart.00294.2023

PMCID:: PMC10643004

Article

Select item 104739696.

Asymptomatic congenital ductus arteriosus aneurysm in a newborn: Case by approach

Thuy Huynh, Thuy Pham, Phuong Ho, Phuong Cam, Vinh Pham, Phuc Vu

Radiol Case Rep. 2023 Nov; 18(11): 3917–3921. Published online 2023 Aug 26. doi: 10.1016/j.radcr.2023.08.050

PMCID:: PMC10473969

Article PDF–1.0M

Select item 103618227.

Ductus Arteriosus Aneurysm and Pulmonary Artery Thromboses in a Protein S-Deficient Newborn

Hiromitsu Shirozu, Masako Ichiyama, Masataka Ishimura, Kuraoka Ayako, Naoki Egami, Kang Dongchon, Toshihide Nakano, Koichi Sagawa, Shouichi Ohga

AJP Rep. 2023 Jul; 13(3): e44–e48. Published online 2023 Jul 21. doi: 10.1055/a-2101-7738

PMCID:: PMC10361822

Article PDF–1.9M

Select item 97785178.

Helsmoortel–Van der Aa Syndrome—Cardiothoracic and Ectodermal Manifestations in Two Patients as Further Support of a Previous Observation on Phenotypic Overlap with RASopathies

Tímea Margit Szabó, István Balogh, Anikó Ujfalusi, Zsuzsanna Szűcs, László Madar, Katalin Koczok, Beáta Bessenyei, Ildikó Csürke, Katalin Szakszon

Genes (Basel) 2022 Dec; 13(12): 2367. Published online 2022 Dec 15. doi: 10.3390/genes13122367

PMCID:: PMC9778517

Article PDF–705K

Select item 95085769.

Rapidly growing thrombus from a ductus arteriosus aneurysm in a neonate

Yoshihide Inagi, Atsushi Kitagawa, Kagami Miyaji, Manabu Takanashi, Takashi Honda, Toru Okamura, Yoichiro Hirata, Hidehiko Nakanishi, Kenji Ishikura

J Cardiol Cases. 2022 Oct; 26(4): 283–285. Published online 2022 Jun 24. doi: 10.1016/j.jccase.2022.05.014

PMCID:: PMC9508576

Article PDF–1.0M

Select item 928328110.

Expanding ACTA2 Genotypes with Corresponding Phenotypes Overlapping with Smooth Muscle Dysfunction Syndrome

Anita Kaw, Kaveeta Kaw, Ellen M. Hostetler, Ana Beleza-Meireles, Adam Smith-Collins, Catherine Armstrong, Ingrid Scurr, Timothy Cotts, Rajani Aatre, Michael J. Bamshad, Dawn Earl, Abraham Groner, Katherine Agre, Yehuda Raveh, Callie S. Kwartler, Montalcino Aortic Consortium, Dianna M. Milewicz

Am J Med Genet A. Author manuscript; available in PMC 2023 Aug 1.

Published in final edited form as: Am J Med Genet A. 2022 Aug; 188(8): 2389–2396. Published online 2022 May 14. doi: 10.1002/ajmg.a.62775

PMCID:: PMC9283281

Article PDF–781K

Select item 875291611.

Open Repair for Patent Ductus Arteriosus Aneurysm in an Adult

Yuya Kise, Yukio Kuniyoshi, Syotaro Higa, Mizuki Ando, Tatuya Maeda, Hitoshi Inafuku, Moriyasu Nakaema

Ann Vasc Dis. 2021 Dec 25; 14(4): 415–418. doi: 10.3400/avd.cr.21-00087

PMCID:: PMC8752916

Article PDF–6.1M

Select item 874940812.

Incidentally identified ductus arteriosus aneurysm in eight adults: a case series

Mayo Yukimoto, Tomohisa Okuma, Etsuji Sohgawa, Mariko M Nakano, Taro Shimono, Yukio Miki

BJR Case Rep. 2021 Jul 16; 7(4): 20200097. Published online 2021 Mar 18. doi: 10.1259/bjrcr.20200097

PMCID:: PMC8749408

Article PDF–612K

Select item 860620913.

A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus

Bertrand Chesneau, Aurélie Plancke, Guillaume Rolland, Bertrand Marcheix, Yves Dulac, Thomas Edouard, Julie Plaisancié, Marion Aubert‐Mucca, Sophie Julia, Maud Langeois, Thierry Lavabre‐Bertrand, Philippe Khau Van Kien

Mol Genet Genomic Med. 2021 Nov; 9(11): e1814. Published online 2021 Oct 21. doi: 10.1002/mgg3.1814

PMCID:: PMC8606209

Article PDF–611K

Select item 825041714.

The Many Faces of Neonatal Ductus Arteriosus Aneurysms: Multimodality Imaging with an Emphasis on CT and MRI Appearance

Badr Bannan, Safwat Aly, Shi-Joon Yoo, Mike Seed, Christopher Z. Lam

Radiol Cardiothorac Imaging. 2021 Jun; 3(3): e210017. Published online 2021 Jun 17. doi: 10.1148/ryct.2021210017

PMCID:: PMC8250417

Article PDF–1.5M

Select item 765422315.

Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry

Dorothy K. Grange, Helen I. Roessler, Conor McClenaghan, Karen Duran, Kathleen Shields, Maria S. Remedi, Nine V. A. M. Knoers, Jin-Moo Lee, Edwin P. Kirk, Ingrid Scurr, Sarah F. Smithson, Gautam K. Singh, Mieke M. van Haelst, Colin G. Nichols, Gijs van Haaften

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2020 Nov 10.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2019 Dec; 181(4): 658–681. doi: 10.1002/ajmg.c.31753

PMCID:: PMC7654223

Article PDF–2.2M

Select item 753414916.

Thoracic Aortic Aneurysm in Patients with Loss of Function Filamin A Mutations: Clinical Characterization, Genetics, and Recommendations

Ming Hui Chen, Sangita Choudhury, Mami Hirata, Siri Kirin Khalsa, Bernard Chang, Christopher A. Walsh

Am J Med Genet A. Author manuscript; available in PMC 2020 Oct 5.

Published in final edited form as: Am J Med Genet A. 2018 Feb; 176(2): 337–350. doi: 10.1002/ajmg.a.38580

PMCID:: PMC7534149

Article PDF–1.3M

Select item 703859317.

High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report

Aisling B. Mc Glacken-Byrne, David Prentice, Danial Roshandel, Michael R. Brown, Philip Tuch, Kyle S.-Y. Yau, Padma Sivadorai, Mark R. Davis, Nigel G. Laing, Fred K. Chen

BMC Ophthalmol. 2020; 20: 68. Published online 2020 Feb 24. doi: 10.1186/s12886-020-01344-w

PMCID:: PMC7038593

Article PDF–8.5M

Select item 650123318.

An Unusual Cardiac Cause of Unilateral Neonatal Wheezing

James Brock, Eliezer Nussbaum, Jared Shows, Son Nguyen, Shaun P. Setty

Case Rep Pediatr. 2019; 2019: 9638518. Published online 2019 Apr 22. doi: 10.1155/2019/9638518

PMCID:: PMC6501233

Article PDF–2.0M

Select item 648676019.

VSMC-specific EP4 deletion exacerbates angiotensin II-induced aortic dissection by increasing vascular inflammation and blood pressure

Hu Xu, Shengnan Du, Bingying Fang, Chaojie Li, Xiao Jia, Senfeng Zheng, Sailun Wang, Qingwei Li, Wen Su, Nanping Wang, Feng Zheng, Lihong Chen, Xiaoyan Zhang, Jan-Åke Gustafsson, Youfei Guan

Proc Natl Acad Sci U S A. 2019 Apr 23; 116(17): 8457–8462. Published online 2019 Apr 4. doi: 10.1073/pnas.1902119116

PMCID:: PMC6486760

Article PDF–1.5M

Select item 610986720.

Thoracic endovascular aortic repair with perioperative antibiotic therapy for infected ductus arteriosus aneurysm in an adult

Hayato Ise, Nobuyuki Akasaka, Hiroyuki Kamiya, Norifumi Otani

J Surg Case Rep. 2018 Aug; 2018(8): rjy229. Published online 2018 Aug 27. doi: 10.1093/jscr/rjy229

PMCID:: PMC6109867

Article PDF–522K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 42

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity