PMC Articles for MedGen (Select 1841003) - PMC

Select item 114296171.

Missense mutations in the CITED2 gene may contribute to congenital heart disease

Hira Yaqoob, Hussain Ahmad, Syed Irtiza Ali, Najma Patel, Afsheen Arif

BMC Cardiovasc Disord. 2024; 24: 516. Published online 2024 Sep 27. doi: 10.1186/s12872-024-04035-2

PMCID:: PMC11429617

Select item 105472792.

A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease

Benjamin J. Landis, Lindsey R. Helvaty, Gabrielle C. Geddes, Jiuann‐Huey Ivy Lin, Svetlana A. Yatsenko, Cecilia W. Lo, William L. Border, Stephanie Burns Wechsler, Chaya N. Murali, Mahshid S. Azamian, Seema R. Lalani, Robert B. Hinton, Vidu Garg, Kim L. McBride, Jennelle C. Hodge, Stephanie M. Ware

J Am Heart Assoc. 2023 Sep 19; 12(18): e029340. Published online 2023 Sep 8. doi: 10.1161/JAHA.123.029340

PMCID:: PMC10547279

Article PDF–2.6M

Select item 94003063.

RASopathies due to de novo pathogenic variants: clinical features, genetic findings and outcomes in nine neonates born with congenital heart defects

Simin Zheng, Huanyang Huang, Li Ma, Tianwen Zhu

BMC Med Genomics. 2022; 15: 184. Published online 2022 Aug 24. doi: 10.1186/s12920-022-01336-3

PMCID:: PMC9400306

Article PDF–1.2M

Select item 75636594.

RBM10, a New Regulator of p53

Ji Hoon Jung, Hyemin Lee, Shelya X Zeng, Hua Lu

Cells. 2020 Sep; 9(9): 2107. Published online 2020 Sep 16. doi: 10.3390/cells9092107

PMCID:: PMC7563659

Article PDF–895K

Select item 74842335.

Single Cell Transcriptomic Profiling of Vascular Smooth Muscle Cell Phenotype Modulation in Marfan Syndrome Aortic Aneurysm

Albert J. Pedroza, Yasushi Tashima, Rohan Shad, Paul Cheng, Robert Wirka, Samantha Churovich, Ken Nakamura, Nobu Yokoyama, Jason Z. Cui, Cristiana Iosef, William Hiesinger, Thomas Quertermous, Michael P. Fischbein

Arterioscler Thromb Vasc Biol. Author manuscript; available in PMC 2021 Sep 1.

Published in final edited form as: Arterioscler Thromb Vasc Biol. 2020 Sep; 40(9): 2195–2211. Published online 2020 Jul 23. doi: 10.1161/ATVBAHA.120.314670

PMCID:: PMC7484233

Article PDF–3.9M

Select item 69545846.

KMT2C/D COMPASS complex-associated diseases [K_CDCOM-ADs]: an emerging class of congenital regulopathies

William J. Lavery, Artem Barski, Susan Wiley, Elizabeth K. Schorry, Andrew W. Lindsley

Clin Epigenetics. 2020; 12: 10. Published online 2020 Jan 10. doi: 10.1186/s13148-019-0802-2

PMCID:: PMC6954584

Article PDF–2.2M

Select item 68854627.

Pregnancy outcomes of reciprocal translocation carriers with two or more unfavorable pregnancy histories: before and after preimplantation genetic testing

Caiyi Huang, Wenjie Jiang, Yueting Zhu, Hongchang Li, Juanjuan Lu, Junhao Yan, Zi-Jiang Chen

J Assist Reprod Genet. 2019 Nov; 36(11): 2325–2331. Published online 2019 Sep 14. doi: 10.1007/s10815-019-01585-9

PMCID:: PMC6885462

Article PDF–408K

Select item 68481438.

Association between the 4p16 genomic locus and different types of congenital heart disease: results from adult survivors in the UK Biobank

Aldo Córdova-Palomera, James R. Priest

Sci Rep. 2019; 9: 16515. Published online 2019 Nov 11. doi: 10.1038/s41598-019-52969-x

PMCID:: PMC6848143

Article PDF–1.2M

Select item 60189239.

Familial co-occurrence of congenital heart defects follows distinct patterns

Sabrina G Ellesøe, Christopher T Workman, Patrice Bouvagnet, Christopher A Loffredo, Kim L McBride, Robert B Hinton, Klaartje van Engelen, Emma C Gertsen, Barbara J M Mulder, Alex V Postma, Robert H Anderson, Vibeke E Hjortdal, Søren Brunak, Lars A Larsen

Eur Heart J. 2018 Mar 21; 39(12): 1015–1022. Published online 2017 Jul 2. doi: 10.1093/eurheartj/ehx314

PMCID:: PMC6018923

Article PDF–608K

Select item 432672210.

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

Alain Verloes, Nataliya Di Donato, Julien Masliah-Planchon, Marjolijn Jongmans, Omar A Abdul-Raman, Beate Albrecht, Judith Allanson, Han Brunner, Debora Bertola, Nicolas Chassaing, Albert David, Koen Devriendt, Pirayeh Eftekhari, Valérie Drouin-Garraud, Francesca Faravelli, Laurence Faivre, Fabienne Giuliano, Leina Guion Almeida, Jorge Juncos, Marlies Kempers, Hatice Koçak Eker, Didier Lacombe, Angela Lin, Grazia Mancini, Daniela Melis, Charles Marques Lourenço, Victoria Mok Siu, Gilles Morin, Marjan Nezarati, Malgorzata J M Nowaczyk, Jeanette C Ramer, Sara Osimani, Nicole Philip, Mary Ella Pierpont, Vincent Procaccio, Zeichi-Seide Roseli, Massimiliano Rossi, Cristina Rusu, Yves Sznajer, Ludivine Templin, Vera Uliana, Mirjam Klaus, Bregje Van Bon, Conny Van Ravenswaaij, Bruce Wainer, Andrew E Fry, Andreas Rump, Alexander Hoischen, Séverine Drunat, Jean-Baptiste Rivière, William B Dobyns, Daniela T Pilz

Eur J Hum Genet. 2015 Mar; 23(3): 292–301. Published online 2014 Jul 23. doi: 10.1038/ejhg.2014.95

PMCID:: PMC4326722

Article PDF–2.0M

Select item 425426511.

Simpson-Golabi-Behmel syndrome types I and II

Jair Tenorio, Pedro Arias, Víctor Martínez-Glez, Fernando Santos, Sixto García-Miñaur, Julián Nevado, Pablo Lapunzina

Orphanet J Rare Dis. 2014; 9: 138. Published online 2014 Sep 20. doi: 10.1186/s13023-014-0138-0

PMCID:: PMC4254265

Article PDF–501K

Select item 333022412.

Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe

Diana Wellesley, Helen Dolk, Patricia A Boyd, Ruth Greenlees, Martin Haeusler, Vera Nelen, Ester Garne, Babak Khoshnood, Berenice Doray, Anke Rissmann, Carmel Mullaney, Elisa Calzolari, Marian Bakker, Joaquin Salvador, Marie-Claude Addor, Elizabeth Draper, Judith Rankin, David Tucker

Eur J Hum Genet. 2012 May; 20(5): 521–526. Published online 2012 Jan 11. doi: 10.1038/ejhg.2011.246

PMCID:: PMC3330224

Article PDF–307K

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