PMC Links for Books (Select 1489208) - PMC

Elisabeth Gillis, Ajay A. Kumar, Ilse Luyckx, Christoph Preuss, Elyssa Cannaerts, Gerarda van de Beek, Björn Wieschendorf, Maaike Alaerts, Nikhita Bolar, Geert Vandeweyer, Josephina Meester, Florian Wünnemann, Russell A. Gould, Rustam Zhurayev, Dmytro Zerbino, Salah A. Mohamed, Seema Mital, Luc Mertens, Hanna M. Björck, Anders Franco-Cereceda, Andrew S. McCallion, Lut Van Laer, Judith M. A. Verhagen, Ingrid M. B. H. van de Laar, Marja W. Wessels, Emmanuel Messas, Guillaume Goudot, Michaela Nemcikova, Alice Krebsova, Marlies Kempers, Simone Salemink, Toon Duijnhouwer, Xavier Jeunemaitre, Juliette Albuisson, Per Eriksson, Gregor Andelfinger, Harry C. Dietz, Aline Verstraeten, Bart L. Loeys, Mibava Leducq Consortium

Front Physiol. 2017; 8: 400. Published online 2017 Jun 13. doi: 10.3389/fphys.2017.00400

Correction in:: Front Physiol. 2017; 8: 730.

PMCID:: PMC5469151

Article PubReader PDF–594K Cite

Select item 52073164.

Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections

Josephina A.N. Meester, Geert Vandeweyer, Isabel Pintelon, Martin Lammens, Lana Van Hoorick, Simon De Belder, Kathryn Waitzman, Luciana Young, Larry W. Markham, Julie Vogt, Julie Richer, Luc M. Beauchesne, Sheila Unger, Andrea Superti-Furga, Milan Prsa, Rami Dhillon, Edwin Reyniers, Harry C. Dietz, Wim Wuyts, Geert Mortier, Aline Verstraeten, Lut Van Laer, Bart L. Loeys

Genet Med. 2017 Apr; 19(4): 386–395. Published online 2016 Sep 15. doi: 10.1038/gim.2016.126

PMCID:: PMC5207316

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Select item 51774935.

International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the Montalcino Aortic Consortium

Guillaume Jondeau, Jacques Ropers, Ellen Regalado, Alan Braverman, Arturo Evangelista, Guisela Teixedo, Julie De Backer, Laura Muiño-Mosquera, Sophie Naudion, Cecile Zordan, Takayuki Morisaki, Hiroto Morisaki, Yskert Von Kodolitsch, Sophie Dupuis-Girod, Shaine A. Morris, Richmond Jeremy, Sylvie Odent, Leslie C. Adès, Madhura Bakshi, Katherine Holman, Scott LeMaire, Olivier Milleron, Maud Langeois, Myrtille Spentchian, Melodie Aubart, Catherine Boileau, Reed Pyeritz, Dianna M. Milewicz

Circ Cardiovasc Genet. Author manuscript; available in PMC 2017 Dec 1.

Published in final edited form as: Circ Cardiovasc Genet. 2016 Dec; 9(6): 548–558. Published online 2016 Nov 21. doi: 10.1161/CIRCGENETICS.116.001485

PMCID:: PMC5177493

Article PubReader PDF–599K Cite

Select item 50850326.

PHACTR1 Is a Genetic Susceptibility Locus for Fibromuscular Dysplasia Supporting Its Complex Genetic Pattern of Inheritance

Soto Romuald Kiando, Nathan R. Tucker, Luis-Jaime Castro-Vega, Alexander Katz, Valentina D’Escamard, Cyrielle Tréard, Daniel Fraher, Juliette Albuisson, Daniella Kadian-Dodov, Zi Ye, Erin Austin, Min-Lee Yang, Kristina Hunker, Cristina Barlassina, Daniele Cusi, Pilar Galan, Jean-Philippe Empana, Xavier Jouven, Anne-Paule Gimenez-Roqueplo, Patrick Bruneval, Esther Soo Hyun Kim, Jeffrey W. Olin, Heather L. Gornik, Michel Azizi, Pierre-François Plouin, Patrick T. Ellinor, Iftikhar J. Kullo, David J. Milan, Santhi K. Ganesh, Pierre Boutouyrie, Jason C. Kovacic, Xavier Jeunemaitre, Nabila Bouatia-Naji

PLoS Genet. 2016 Oct; 12(10): e1006367. Published online 2016 Oct 28. doi: 10.1371/journal.pgen.1006367

PMCID:: PMC5085032

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Select item 48392957.

LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections

Dong-chuan Guo, Ellen S. Regalado, Limin Gong, Xueyan Duan, Regie Lyn P. Santos-Cortez, Pauline Arnaud, Zhao Ren, Bo Cai, Ellen M. Hostetler, Rocio Moran, David Liang, Anthony Estrera, Hazim J Safi, University of Washington Center for Mendelian Genomics, Suzanne M. Leal, Michael J. Bamshad, Jay Shendure, Deborah A. Nickerson, Guillaume Jondeau, Catherine Boileau, Dianna M. Milewicz

Circ Res. Author manuscript; available in PMC 2017 Mar 18.

Published in final edited form as: Circ Res. 2016 Mar 18; 118(6): 928–934. Published online 2016 Jan 12. doi: 10.1161/CIRCRESAHA.115.307130

PMCID:: PMC4839295

Article PubReader PDF–672K Cite

Select item 47673508.

FOXE3 mutations predispose to thoracic aortic aneurysms and dissections

Shao-Qing Kuang, Olga Medina-Martinez, Dong-chuan Guo, Limin Gong, Ellen S. Regalado, Corey L. Reynolds, Catherine Boileau, Guillaume Jondeau, Siddharth K. Prakash, Callie S. Kwartler, Lawrence Yang Zhu, Andrew M. Peters, Xue-Yan Duan, National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) Investigators, National Heart, Lung, and Blood Institute (NHLBI) Grand Opportunity (GO) Exome Sequencing Project (ESP), Michael J. Bamshad, Jay Shendure, Debbie A. Nickerson, Regie L. Santos-Cortez, Xiurong Dong, Suzanne M. Leal, Mark W. Majesky, Eric C. Swindell, Milan Jamrich, Dianna M. Milewicz

J Clin Invest. 2016 Mar 1; 126(3): 948–961. Published online 2016 Feb 8. doi: 10.1172/JCI83778

PMCID:: PMC4767350

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Select item 45447539.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Article PubReader PDF–960K Cite

Select item 438032110.

Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

Aida M. Bertoli-Avella, Elisabeth Gillis, Hiroko Morisaki, Judith M.A. Verhagen, Bianca M. de Graaf, Gerarda van de Beek, Elena Gallo, Boudewijn P.T. Kruithof, Hanka Venselaar, Loretha A. Myers, Steven Laga, Alexander J. Doyle, Gretchen Oswald, Gert W.A. van Cappellen, Itaru Yamanaka, Robert M. van der Helm, Berna Beverloo, Annelies de Klein, Luba Pardo, Martin Lammens, Christina Evers, Koenraad Devriendt, Michiel Dumoulein, Janneke Timmermans, Hennie T. Bruggenwirth, Frans Verheijen, Inez Rodrigus, Gareth Baynam, Marlies Kempers, Johan Saenen, Emeline M. Van Craenenbroeck, Kenji Minatoya, Ritsu Matsukawa, Takuro Tsukube, Noriaki Kubo, Robert Hofstra, Marie Jose Goumans, Jos A. Bekkers, Jolien W. Roos-Hesselink, Ingrid M.B.H. van de Laar, Harry C. Dietz, Lut Van Laer, Takayuki Morisaki, Marja W. Wessels, Bart L. Loeys

J Am Coll Cardiol. 2015 Apr 7; 65(13): 1324–1336. doi: 10.1016/j.jacc.2015.01.040

PMCID:: PMC4380321

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Select item 428968211.

MAT2A Mutations Predispose Individuals to Thoracic Aortic Aneurysms

Dong-chuan Guo, Limin Gong, Ellen S. Regalado, Regie L. Santos-Cortez, Ren Zhao, Bo Cai, Sudha Veeraraghavan, Siddharth K. Prakash, Ralph J. Johnson, Ann Muilenburg, Marcia Willing, Guillaume Jondeau, Catherine Boileau, Hariyadarshi Pannu, Rocio Moran, Julie Debacker, GenTAC Investigators, National Heart, Lung, and Blood Institute Go Exome Sequencing Project, Montalcino Aortic Consortium, Michael J. Bamshad, Jay Shendure, Deborah A. Nickerson, Suzanne M. Leal, C.S. Raman, Eric C. Swindell, Dianna M. Milewicz

Am J Hum Genet. 2015 Jan 8; 96(1): 170–177. doi: 10.1016/j.ajhg.2014.11.015

PMCID:: PMC4289682

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Select item 425997812.

MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections

Mathieu Barbier, Marie-Sylvie Gross, Mélodie Aubart, Nadine Hanna, Ketty Kessler, Dong-Chuan Guo, Laurent Tosolini, Benoit Ho-Tin-Noe, Ellen Regalado, Mathilde Varret, Marianne Abifadel, Olivier Milleron, Sylvie Odent, Sophie Dupuis-Girod, Laurence Faivre, Thomas Edouard, Yves Dulac, Tiffany Busa, Laurent Gouya, Dianna M. Milewicz, Guillaume Jondeau, Catherine Boileau

Am J Hum Genet. 2014 Dec 4; 95(6): 736–743. doi: 10.1016/j.ajhg.2014.10.018

PMCID:: PMC4259978

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Select item 413112213.

Loeys–Dietz syndrome: a primer for diagnosis and management

Gretchen MacCarrick, James H. Black, III, Sarah Bowdin, Ismail El-Hamamsy, Pamela A. Frischmeyer-Guerrerio, Anthony L. Guerrerio, Paul D. Sponseller, Bart Loeys, Harry C. Dietz, III

Genet Med. 2014 Aug; 16(8): 576–587. Published online 2014 Feb 27. doi: 10.1038/gim.2014.11

PMCID:: PMC4131122

Article PubReader PDF–485K Cite

Select item 403366814.

TGFB2 loss of function mutations cause familial thoracic aortic aneurysms and acute aortic dissections associated with mild systemic features of the Marfan syndrome

Catherine Boileau, Dong-Chuan Guo, Nadine Hanna, Ellen S. Regalado, Delphine Detaint, Limin Gong, Mathilde Varret, Siddharth Prakash, Alexander H. Li, Hyacintha d’Indy, Alan C. Braverman, Bernard Grandchamp, Callie S. Kwartler, Laurent Gouya, Regie Lyn P. Santos-Cortez, Marianne Abifadel, Suzanne M. Leal, Christine Muti, Jay Shendure, Marie-Sylvie Gross, Mark J. Rieder, Alec Vahanian, Deborah A. Nickerson, Jean Baptiste Michel, National Heart Lung and Blood Institute (NHLBI) Go Exome Sequencing Project, Guillaume Jondeau, Dianna M. Milewicz

Nat Genet. Author manuscript; available in PMC 2014 May 26.

Published in final edited form as: Nat Genet. 2012 Aug; 44(8): 916–921. Published online 2012 Jul 8. doi: 10.1038/ng.2348

PMCID:: PMC4033668

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Select item 390532715.

TGFβ Receptor Mutations Impose a Strong Predisposition for Human Allergic Disease

Pamela A. Frischmeyer-Guerrerio, Anthony L. Guerrerio, Gretchen Oswald, Kristin Chichester, Loretha Myers, Marc K. Halushka, Maria Oliva-Hemker, Robert A. Wood, Harry C. Dietz

Sci Transl Med. Author manuscript; available in PMC 2014 Jan 29.

Published in final edited form as: Sci Transl Med. 2013 Jul 24; 5(195): 195ra94. doi: 10.1126/scitranslmed.3006448

PMCID:: PMC3905327

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Select item 387122716.

Angiotensin II–dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesis

Elena M. Gallo, David C. Loch, Jennifer P. Habashi, Juan F. Calderon, Yichun Chen, Djahida Bedja, Christel van Erp, Elizabeth E. Gerber, Sarah J. Parker, Kimberly Sauls, Daniel P. Judge, Sara K. Cooke, Mark E. Lindsay, Rosanne Rouf, Loretha Myers, Colette M. ap Rhys, Kathleen C. Kent, Russell A. Norris, David L. Huso, Harry C. Dietz

J Clin Invest. 2014 Jan 2; 124(1): 448–460. Published online 2013 Dec 20. doi: 10.1172/JCI69666

PMCID:: PMC3871227

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Select item 373883717.

Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections

Dong-chuan Guo, Ellen Regalado, Darren E. Casteel, Regie L. Santos-Cortez, Limin Gong, Jeong Joo Kim, Sarah Dyack, S. Gabrielle Horne, Guijuan Chang, Guillaume Jondeau, Catherine Boileau, Joseph S. Coselli, Zhenyu Li, Suzanne M. Leal, Jay Shendure, Mark J. Rieder, Michael J. Bamshad, Deborah A. Nickerson, GenTAC Registry Consortium, National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project, Choel Kim, Dianna M. Milewicz

Am J Hum Genet. 2013 Aug 8; 93(2): 398–404. doi: 10.1016/j.ajhg.2013.06.019

PMCID:: PMC3738837

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Select item 370662918.

De novo mutations in histone modifying genes in congenital heart disease

Samir Zaidi, Murim Choi, Hiroko Wakimoto, Lijiang Ma, Jianming Jiang, John D. Overton, Angela Romano-Adesman, Robert D. Bjornson, Roger E. Breitbart, Kerry K. Brown, Nicholas J. Carriero, Yee Him Cheung, John Deanfield, Steve DePalma, Khalid A. Fakhro, Joseph Glessner, Hakon Hakonarson, Michael Italia, Jonathan R. Kaltman, Juan Kaski, Richard Kim, Jennie K. Kline, Teresa Lee, Jeremy Leipzig, Alexander Lopez, Shrikant M. Mane, Laura E. Mitchell, Jane W. Newburger, Michael Parfenov, Itsik Pe'er, George Porter, Amy Roberts, Ravi Sachidanandam, Stephan J. Sanders, Howard S. Seiden, Mathew W. State, Sailakshmi Subramanian, Irina R. Tikhonova, Wei Wang, Dorothy Warburton, Peter S. White, Ismee A. Williams, Hongyu Zhao, Jonathan G. Seidman, Martina Brueckner, Wendy K. Chung, Bruce D. Gelb, Elizabeth Goldmuntz, Christine E. Seidman, Richard P. Lifton

Nature. Author manuscript; available in PMC 2013 Dec 13.

Published in final edited form as: Nature. 2013 Jun 13; 498(7453): 220–223. Published online 2013 May 12. doi: 10.1038/nature12141

PMCID:: PMC3706629

Article PubReader PDF–426K Cite

Select item 364664419.

TGFBR2 Deletion in a 20-Month-Old Female With Developmental Delay and Microcephaly

Ian M. Campbell, Katarzyna E. Kolodziejska, Michael M. Quach, Varina Louise Wolf, Sau Wai Cheung, Seema R. Lalani, Melissa B. Ramocki, Pawel Stankiewicz

Am J Med Genet A. Author manuscript; available in PMC 2013 May 7.

Published in final edited form as: Am J Med Genet A. 2011 Jun; 0(6): 1442–1447. Published online 2011 May 12. doi: 10.1002/ajmg.a.34015

PMCID:: PMC3646644

Article PubReader PDF–682K Cite

Select item 362287120.

Lessons on the pathogenesis of aneurysm from heritable conditions

Mark E. Lindsay, Harry C. Dietz

Nature. Author manuscript; available in PMC 2013 Apr 11.

Published in final edited form as: Nature. 2011 May 19; 473(7347): 308–316. doi: 10.1038/nature10145

PMCID:: PMC3622871

Article PubReader PDF–1.4M Cite

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