PMC Articles for MedGen (Select 87490) - PMC

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

Article PDF–4.9M

Select item 93135634.

Prenatally diagnosed isolated perimembranous ventricular septal defect: Genetic and clinical implications

Lital Gordin Kopylov, Nadav Dekel, Ron Maymon, Noa Feldman, Ariel Zimmerman, Dan Hadas, Yaakov Melcer, Ran Svirsky

Prenat Diagn. 2022 Apr; 42(4): 461–468. Published online 2022 Mar 7. doi: 10.1002/pd.6128

PMCID:: PMC9313563

Article PDF–629K

Select item 85648595.

Setd5 is required in cardiopharyngeal mesoderm for heart development and its haploinsufficiency is associated with outflow tract defects in mouse

Michelle Yu‐Qing Cheung, Catherine Roberts, Peter Scambler, Athanasia Stathopoulou

Genesis. 2021 Aug; 59(7-8): e23421. Published online 2021 May 29. doi: 10.1002/dvg.23421

PMCID:: PMC8564859

Article PDF–18M

Select item 79881226.

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

Article PDF–4.6M

Select item 75525347.

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

Article PDF–1.0M

Select item 73202818.

NOX2 Is Critical to Endocardial to Mesenchymal Transition and Heart Development

Hoda Moazzen, Yan Wu, Anish Engineer, Xiangru Lu, Simran Aulakh, Qingping Feng

Oxid Med Cell Longev. 2020; 2020: 1679045. Published online 2020 Jun 16. doi: 10.1155/2020/1679045

PMCID:: PMC7320281

Article PDF–4.9M

Select item 72987629.

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

Article PDF–1.3M

Select item 707814610.

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

Article PDF–1.7M

Select item 654955511.

Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay

Volkan Okur, Charles A. LeDuc, Edwin Guzman, Zaheer M. Valivullah, Kwame Anyane-Yeboa, Wendy K. Chung

Cold Spring Harb Mol Case Stud. 2019 Jun; 5(3): a004101. doi: 10.1101/mcs.a004101

PMCID:: PMC6549555

Article PDF–1.3M

Select item 598317312.

The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin–Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections

Nathaly M. Sweeney, Shareef A. Nahas, Shimul Chowdhury, Miguel Del Campo, Marilyn C. Jones, David P. Dimmock, Stephen F. Kingsmore, on behalf of the RCIGM Investigators

Cold Spring Harb Mol Case Stud. 2018 Jun; 4(3): a002469. doi: 10.1101/mcs.a002469

PMCID:: PMC5983173

Article PDF–1.1M

Select item 574239213.

The Efficacy of a Genetic Analysis of the BMPR2 Gene in a Patient with Severe Pulmonary Arterial Hypertension and an Atrial Septal Defect Treated with Bilateral Lung Transplantation

Shunsuke Tatebe, Koichiro Sugimura, Tatsuo Aoki, Saori Yamamoto, Nobuhiro Yaoita, Hideaki Suzuki, Haruka Sato, Katsuya Kozu, Ryo Konno, Kimio Satoh, Koji Fukuda, Osamu Adachi, Ryoko Saito, Norifumi Nakanishi, Hiroko Morisaki, Kotaro Oyama, Yoshikatsu Saiki, Yoshinori Okada, Hiroaki Shimokawa

Intern Med. 2017 Dec 1; 56(23): 3193–3197. Published online 2017 Oct 11. doi: 10.2169/internalmedicine.8686-16

PMCID:: PMC5742392

Article PDF–747K

Select item 552521014.

Functional study of DAND5 variant in patients with Congenital Heart Disease and laterality defects

Fernando Cristo, José M. Inácio, Salomé de Almeida, Patrícia Mendes, Duarte Saraiva Martins, José Maio, Rui Anjos, José A. Belo

BMC Med Genet. 2017; 18: 77. Published online 2017 Jul 24. doi: 10.1186/s12881-017-0444-1

PMCID:: PMC5525210

Article PDF–675K

Select item 483912915.

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

Article PDF–375K

Select item 470561616.

Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population

Yu An, Wenyuan Duan, Guoying Huang, Xiaoli Chen, Li Li, Chenxia Nie, Jia Hou, Yonghao Gui, Yiming Wu, Feng Zhang, Yiping Shen, Bailin Wu, Hongyan Wang

BMC Med Genomics. 2016; 9: 2. Published online 2016 Jan 8. doi: 10.1186/s12920-015-0163-4