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Select item 51432791.

Atypical Neonatal Marfan Syndrome with p.Glu1073Lys Mutation of FBN1: the First Case in Korea

Ju Sun Heo, Joo Young Song, Eun Young Choi, Eun-Hee Kim, Ji Hee Kim, So Eun Park, Ji-Hyun Jeon

J Korean Med Sci. 2017 Jan; 32(1): 1–3. Published online 2016 Nov 28. doi: 10.3346/jkms.2017.32.1.1

PMCID:: PMC5143279

Article PDF–1.3M

Select item 1397932.

Pax3-FKHR Knock-In Mice Show Developmental Aberrations but Do Not Develop Tumors

Irina Lagutina, Simon J. Conway, Jack Sublett, Gerard C. Grosveld

Mol Cell Biol. 2002 Oct; 22(20): 7204–7216. doi: 10.1128/MCB.22.20.7204-7216.2002

PMCID:: PMC139793

Article PDF–1.8M

Select item 108609863.

Feihong Li, Wenyang Wang, Yazhou Li, Xiwang Liu, Zhirui Zhu, Jian Tang, Yaoqin Hu

Medicine (Baltimore) 2024 Feb 9; 103(6): e36034. Published online 2024 Feb 9. doi: 10.1097/MD.0000000000036034

PMCID:: PMC10860986

Article PDF–642K

Select item 105403674.

Triple repeated fetal congenital heart disease linked to PLD1 mutation: a case report

Yuki Masuda, Yoko Nagayasu, Hikaru Murakami, Ruri Nishie, Natsuko Morita, Sosuke Hashida, Atsushi Daimon, Misa Nunode, Hiroshi Maruoka, Masae Yoo, Takumi Sano, Yutaka Odanaka, Satoe Fujiwara, Daisuke Fujita, Nobuhiko Okamoto, Masahide Ohmichi

J Med Case Rep. 2023; 17: 411. Published online 2023 Sep 29. doi: 10.1186/s13256-023-04149-9

PMCID:: PMC10540367

Article PDF–1.1M

Select item 103519055.

Rare Forms of Cardiac Amyloidosis: Diagnostic Clues and Phenotype in Apo AI and AIV Amyloidosis

Adam Ioannou, Aldostefano Porcari, Rishi K. Patel, Yousuf Razvi, Giulio Sinigiani, Ana Martinez-Naharro, Lucia Venneri, James Moon, Muhammad U. Rauf, Helen Lachmann, Ashutosh Wechelakar, Philip N. Hawkins, Julian D. Gillmore, Marianna Fontana

Circ Cardiovasc Imaging. 2023 Jul; 16(7): 523–535. Published online 2023 Jul 11. doi: 10.1161/CIRCIMAGING.123.015259

PMCID:: PMC10351905

Article PDF–1.1M

Select item 101085696.

Progression of echocardiographic parameters and prognosis in transthyretin cardiac amyloidosis

Liza Chacko, Nina Karia, Lucia Venneri, Francesco Bandera, Beatrice Dal Passo, Lodovico Buonamici, Jonathan Lazari, Adam Ioannou, Aldostefano Porcari, Rishi Patel, Yousuf Razvi, James Brown, Daniel Knight, Ana Martinez‐Naharro, Carol Whelan, Candida C. Quarta, Charlotte Manisty, James Moon, Dorota Rowczenio, Janet A. Gilbertson, Helen Lachmann, Ashutosh Wechelakar, Aviva Petrie, William E. Moody, Richard P. Steeds, Luciano Potena, Mattia Riefolo, Ornella Leone, Claudio Rapezzi, Philip N. Hawkins, Julian D. Gillmore, Marianna Fontana

Eur J Heart Fail. 2022 Sep; 24(9): 1700–1712. Published online 2022 Jul 27. doi: 10.1002/ejhf.2606

PMCID:: PMC10108569

Article PDF–1.7M

Select item 99644967.

Unusual Association of Diamond–Blackfan Anemia and Severe Sinus Bradycardia in a Six-Month-Old White Infant: A Case Report and Literature Review

Stefana Maria Moisa, Elena-Lia Spoiala, Laura Mihaela Trandafir, Lacramioara Ionela Butnariu, Ingrith-Crenguta Miron, Antonela Ciobanu, Adriana Mocanu, Anca Ivanov, Carmen Iulia Ciongradi, Ioan Sarbu, Anamaria Ciubara, Carmen Daniela Rusu, Alina Costina Luca, Alexandru Burlacu

Medicina (Kaunas) 2023 Feb; 59(2): 362. Published online 2023 Feb 14. doi: 10.3390/medicina59020362

PMCID:: PMC9964496

Article PDF–1.1M

Select item 96323618.

A novel large in-frame FBN1 deletion causes neonatal Marfan syndrome

Sümeyye Elgaz, Boris Wittekindt, Anoosh Esmaeili, Sebastian Fischer, Hanno J. Bolz, Ulrich Zechner, Horst Buxmann

Cold Spring Harb Mol Case Stud. 2022 Oct; 8(6): a006213. doi: 10.1101/mcs.a006213

PMCID:: PMC9632361

Article PDF–2.6M

Select item 89443279.

Progression of cardiac disease in patients with lamin A/C mutations

Eystein T Skjølsvik, Øyvind Haugen Lie, Monica Chivulescu, Margareth Ribe, Anna Isotta Castrini, Kaspar Broch, Are Hugo Pripp, Thor Edvardsen, Kristina H Haugaa

Eur Heart J Cardiovasc Imaging. 2022 Apr; 23(4): 543–550. Published online 2021 Apr 6. doi: 10.1093/ehjci/jeab057

PMCID:: PMC8944327

Article PDF–577K

Select item 861970810.

Ebstein Anomaly and Right Aortic Arch in Patient with Charge Syndrome

Inguna Lubaua, Madara Teraudkalna

Medicina (Kaunas) 2021 Nov; 57(11): 1239. Published online 2021 Nov 13. doi: 10.3390/medicina57111239

PMCID:: PMC8619708

Article PDF–2.0M

Select item 776337311.

Subaortic Membranes in Patients With Hereditary Hemorrhagic Telangiectasia and Liver Vascular Malformations

Agnes S. Kim, Katharine J. Henderson, Sumeet Pawar, Min Jung Kim, Shahnaz Punjani, Jeffrey S. Pollak, John T. Fahey, Guadalupe Garcia‐Tsao, Lissa Sugeng, Lawrence H. Young

J Am Heart Assoc. 2020 Oct 20; 9(20): e016197. Published online 2020 Oct 15. doi: 10.1161/JAHA.120.016197

PMCID:: PMC7763373

Article PDF–566K

Select item 768608212.

Proteomic Evaluation of the Comorbidity-Inflammation Paradigm in Heart Failure with Preserved Ejection Fraction: Results from the PROMIS-HFpEF Study

Sandra Sanders-van Wijk, Jasper Tromp, Lauren Beussink-Nelson, Camilla Hage, Sara Svedlund, Antti Saraste, Stanley A. Swat, Cynthia Sanchez, Joyce Njoroge, Ru-San Tan, Maria Lagerström Fermer, Li-Ming Gan, Lars H. Lund, Carolyn S.P. Lam, Sanjiv J. Shah

Circulation. Author manuscript; available in PMC 2021 Nov 24.

Published in final edited form as: Circulation. 2020 Nov 24; 142(21): 2029–2044. Published online 2020 Oct 9. doi: 10.1161/CIRCULATIONAHA.120.045810

PMCID:: PMC7686082

Article PDF–1.1M

Select item 757991513.

A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report

Yuping Niu, Sexin Huang, Zeyu Wang, Peiwen Xu, Lijuan Wang, Jie Li, Ming Gao, Xuan Gao, Yuan Gao

BMC Med Genet. 2020; 21: 211. Published online 2020 Oct 21. doi: 10.1186/s12881-020-01148-1

PMCID:: PMC7579915

Article PDF–1.3M

Select item 703186714.

Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation

Rachel Sayuri Honjo, Evelyn Cristina Nuñez Vaca, Gabriela Nunes Leal, Deipara Monteiro Abellan, Nana Miura Ikari, Marcelo Biscegli Jatene, Ana Maria Martins, Chong Ae Kim

BMC Med Genet. 2020; 21: 37. Published online 2020 Feb 19. doi: 10.1186/s12881-020-0972-y

PMCID:: PMC7031867

Article PDF–2.9M

Select item 689035215.

Is genomic screening necessary for fetuses who suffer moderate to severe tricuspid regurgitation?: A case report

Lei Liu, Xiaoqing Shi, Peng Yue, Xiaolan Zheng, Yimin Hua, Kaiyu Zhou, Yifei Li

Medicine (Baltimore) 2019 Nov; 98(48): e17771. Published online 2019 Nov 27. doi: 10.1097/MD.0000000000017771

PMCID:: PMC6890352

Article PDF–324K

Select item 649977116.

Effect of a phosphodiesterase-5A (PDE5A) gene polymorphism on response to sildenafil therapy in canine pulmonary hypertension

Yu Ueda, Lynelle R. Johnson, Eric S. Ontiveros, Lance C. Visser, Catherine T. Gunther-Harrington, Joshua A. Stern

Sci Rep. 2019; 9: 6899. Published online 2019 May 3. doi: 10.1038/s41598-019-43318-z

PMCID:: PMC6499771

Article PDF–1.7M

Select item 630564717.

Infertility in a man with oligoasthenozoospermia associated with mosaic chromosome 22q11 deletion

Yanyan Liu, Hongmei Zhu, Xuan Zhang, Ting Hu, Zhu Zhang, Jing Wang, Yi Lai, Jiemei Zheng, Dan Xie, Bei Xia, Li Qin, Liangyu Xie, Shanling Liu, He Wang, Huaqin Sun

Mol Genet Genomic Med. 2018 Nov; 6(6): 1249–1254. Published online 2018 Nov 20. doi: 10.1002/mgg3.487

PMCID:: PMC6305647

Article PDF–2.0M

Select item 591280318.

Echocardiography allows for analysis of pulmonary arterial flow in mice with congenital diaphragmatic hernia

Mansi Shah, Michael R. Phillips, Megan Quintana, Gary Stupp, Sean E. McLean

J Surg Res. Author manuscript; available in PMC 2019 Jan 1.

Published in final edited form as: J Surg Res. 2018 Jan; 221: 35–42. doi: 10.1016/j.jss.2017.06.080

PMCID:: PMC5912803

Article PDF–338K

Select item 564841619.

Non-syndromic cardiac progeria in a patient with the rare pathogenic p.Asp300Asn variant in the LMNA gene

Ali J. Marian

BMC Med Genet. 2017; 18: 116. Published online 2017 Oct 18. doi: 10.1186/s12881-017-0480-x

PMCID:: PMC5648416

Article PDF–657K

Select item 545433820.

Association of circulating transcriptomic profiles with mortality in sickle cell disease

Ankit A. Desai, Zhengdeng Lei, Neil Bahroos, Mark Maienschein-Cline, Santosh L. Saraf, Xu Zhang, Binal N. Shah, Seyed M. Nouraie, Taimur Abbasi, Amit R. Patel, Roberto M. Lang, Yves Lussier, Joe G. N. Garcia, Victor R. Gordeuk, Roberto F. Machado

Blood. 2017 Jun 1; 129(22): 3009–3016. Prepublished online 2017 Apr 3. doi: 10.1182/blood-2016-11-752279

PMCID:: PMC5454338

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