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Select item 40803091.

Aortic Root Dilation in Patients With 22q11.2 Deletion Syndrome

Anitha S. John, Donna M. McDonald-McGinn, Elaine H. Zackai, Elizabeth Goldmuntz

Am J Med Genet A. Author manuscript; available in PMC 2014 Jul 3.

Published in final edited form as: Am J Med Genet A. 2009 May; 0(5): 939–942. doi: 10.1002/ajmg.a.32770

PMCID:: PMC4080309

Abstract Article PDF–76K

Select item 99766172.

MATERNAL ANTIHYPERTENSIVE MEDICATION USE AND CONGENITAL HEART DEFECTS: UPDATED RESULTS FROM THE NATIONAL BIRTH DEFECTS PREVENTION STUDY

Sarah C. Fisher, Alissa R. Van Zutphen, Martha M. Werler, Angela E. Lin, Paul A. Romitti, Charlotte M. Druschel, Marilyn L. Browne, National Birth Defects Prevention Study

Hypertension. Author manuscript; available in PMC 2023 Mar 1.

Published in final edited form as: Hypertension. 2017 May; 69(5): 798–805. Published online 2017 Apr 3. doi: 10.1161/HYPERTENSIONAHA.116.08773

PMCID:: PMC9976617

Abstract Article PDF–447K

Select item 86153133.

Continuous epidural anesthesia with double catheters for cesarean section in a patient with severe pulmonary hypertension: A case report

Pingzhu Wang, Xiaojing Chen, Jingwen Zhang, Yushan Ma

Medicine (Baltimore) 2021 Nov 24; 100(47): e27979. Published online 2021 Nov 24. doi: 10.1097/MD.0000000000027979

PMCID:: PMC8615313

Abstract Article PDF–163K

Select item 78737214.

Association of first trimester prescription opioid use with congenital malformations in the offspring: population based cohort study

Brian T Bateman, Sonia Hernandez-Diaz, Loreen Straub, Yanmin Zhu, Kathryn J Gray, Rishi J Desai, Helen Mogun, Nileesa Gautam, Krista F Huybrechts

BMJ. 2021; 372: n102. Published online 2021 Feb 10. doi: 10.1136/bmj.n102

PMCID:: PMC7873721

Abstract Article

Select item 14211835.

Complete Repair of Tetralogy of Fallot in the Neonate: Results in the Modern Era

Jennifer C. Hirsch, Ralph S. Mosca, Edward L. Bove

Ann Surg. 2000 Oct; 232(4): 508–514. doi: 10.1097/00000658-200010000-00006

PMCID:: PMC1421183

Abstract Article PDF–259K

Select item 1011126.

Right Ventricular and Septal Anomalies Complicated by Subacute Bacterial Endocarditis

Qi-Cai He, Yong-Qing Wang, Bing-Tang Zhong, Zi-Li Chen, Ji-Ge Guo, Wei-Wen Ye

Tex Heart Inst J. 2000; 27(4): 401–404.

PMCID:: PMC101112

Abstract Article PDF–521K

Select item 101765147.

Central Nervous System and Cardiac Abnormalities in the Setting of a De Novo Heterozygous Col4a1 Variant

Heerali Patel, Mohammed Elkhwad, Gregory C. Martin

Am J Case Rep. 2023; 24: e938651-1–e938651-4. Published online 2023 May 9. doi: 10.12659/AJCR.938651

PMCID:: PMC10176514

Abstract Article PDF–491K

Select item 99360178.

Missed diagnosis of lissencephaly after prenatal diagnosis: A case report

Mengna Liu, Xiao Liu, Jiebin Wu, Jing Sha, Jingfang Zhai, Bei Zhang

Medicine (Baltimore) 2023 Feb 17; 102(7): e33014. Published online 2023 Feb 17. doi: 10.1097/MD.0000000000033014

PMCID:: PMC9936017

Abstract Article PDF–506K

Select item 95836209.

OFCD Syndrome and Extraembryonic Defects are Revealed by Conditional Mutation of the Polycomb-group Repressive Complex 1.1 (PRC1.1) Gene Bcor

Michelle Y. Hamline, Connie M. Corcoran, Joseph A. Wamstad, Isabelle Miletich, Jifan Feng, Jamie L. Lohr, Myriam Hemberger, Paul T. Sharpe, Micah D. Gearhart, Vivian J. Bardwell

Dev Biol. Author manuscript; available in PMC 2022 Oct 20.

Published in final edited form as: Dev Biol. 2020 Dec 1; 468(1-2): 110–132. Published online 2020 Jul 18. doi: 10.1016/j.ydbio.2020.06.013

PMCID:: PMC9583620

Abstract Article PDF–4.9M

Select item 906740610.

CHD4 is recruited by GATA4 and NKX2-5 to repress noncardiac gene programs in the developing heart

Zachary L. Robbe, Wei Shi, Lauren K. Wasson, Angel P. Scialdone, Caralynn M. Wilczewski, Xinlei Sheng, Austin J. Hepperla, Brynn N. Akerberg, William T. Pu, Ileana M. Cristea, Ian J. Davis, Frank L. Conlon

Genes Dev. 2022 Apr 1; 36(7-8): 468–482. doi: 10.1101/gad.349154.121

PMCID:: PMC9067406

Abstract Article PDF–8.4M

Select item 844972711.

Loss of GATA4 C-Terminus by p.S335X Mutation Modulates Coronary Artery Vascular Smooth Muscle Cell Phenotype

Ting-Yan Yu, Xin-Xin Chen, Qing-Wen Liu, Fang-Fang Ma, Hong-Lang Huang, Lei Zhou, Wei Zhang

Mediators Inflamm. 2021; 2021: 3698386. Published online 2021 Sep 11. doi: 10.1155/2021/3698386

PMCID:: PMC8449727

Abstract Article PDF–3.1M

Select item 798812212.

Gestational intermittent hyperoxia rescues murine genetic congenital heart disease in part

Cassandra F. Doll, Natalia J. Pereira, Mustafa S. Hashimi, Tabor J. Grindrod, Fariz F. Alkassis, Lawrence X. Cai, Una Milovanovic, Adriana I. Sandino, Hideko Kasahara

Sci Rep. 2021; 11: 6608. Published online 2021 Mar 23. doi: 10.1038/s41598-021-85569-9

PMCID:: PMC7988122

Abstract Article PDF–4.6M

Select item 784511813.

New insight into clinical heterogeneity and inheritance diversity of FBLN5-related cutis laxa

Jalal Gharesouran, Hassan Hosseinzadeh, Soudeh Ghafouri-Fard, Yalda Jabbari Moghadam, Javad Ahmadian Heris, Amir Hossein Jafari-Rouhi, Mohammad Taheri, Maryam Rezazadeh

Orphanet J Rare Dis. 2021; 16: 51. Published online 2021 Jan 28. doi: 10.1186/s13023-021-01696-6

PMCID:: PMC7845118

Abstract Article PDF–1.4M

Select item 755253414.

Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn

Yiming Lin, Weihua Lin, Yanru Chen, Chunmei Lin, Zhenzhu Zheng, Jianlong Zhuang, Qingliu Fu

BMC Pediatr. 2020; 20: 478. Published online 2020 Oct 13. doi: 10.1186/s12887-020-02372-7

PMCID:: PMC7552534

Abstract Article PDF–1.0M

Select item 729876215.

Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients

Takanobu Inoue, Akie Nakamura, Megumi Iwahashi-Odano, Kanako Tanase-Nakao, Keiko Matsubara, Junko Nishioka, Yoshihiro Maruo, Yukihiro Hasegawa, Hiroshi Suzumura, Seiji Sato, Yoshiyuki Kobayashi, Nobuyuki Murakami, Kazuhiko Nakabayashi, Kazuki Yamazawa, Tomoko Fuke, Satoshi Narumi, Akira Oka, Tsutomu Ogata, Maki Fukami, Masayo Kagami

Clin Epigenetics. 2020; 12: 86. Published online 2020 Jun 16. doi: 10.1186/s13148-020-00865-x

PMCID:: PMC7298762

Abstract Article PDF–1.3M

Select item 707814616.

Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies

Ivana Lessel, Mei-Jan Chen, Sabine Lüttgen, Florian Arndt, Sigrid Fuchs, Stefanie Meien, Holger Thiele, Julie R. Jones, Brandon R. Shaw, David K. Crossman, Peter Nürnberg, Bruce R. Korf, Christian Kubisch, Davor Lessel

Hum Genet. 2020; 139(4): 483–498. Published online 2020 Feb 13. doi: 10.1007/s00439-019-02105-6

PMCID:: PMC7078146

Abstract Article PDF–1.7M

Select item 695381017.

Clinical, cytogenetic and molecular genetic characterization of a tandem fusion translocation in a male Holstein cattle with congenital hypospadias and a ventricular septal defect

Alessandra Iannuzzi, Marina Braun, Viviana Genualdo, Angela Perucatti, Sina Reinartz, Ioannis Proios, Maike Heppelmann, Jürgen Rehage, Kirsten Hülskötter, Andreas Beineke, Julia Metzger, Ottmar Distl

PLoS One. 2020; 15(1): e0227117. Published online 2020 Jan 10. doi: 10.1371/journal.pone.0227117