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Items: 1 to 20 of 30

1.
A Case Based Approach to Clinical Genetics of Thoracic Aortic Aneurysm/Dissection
Betti Giusti, Stefano Nistri, Elena Sticchi, Rosina De Cario, Rosanna Abbate, Gian Franco Gensini, Guglielmina Pepe
Biomed Res Int. 2016; 2016: 9579654. Published online 2016 May 25. doi: 10.1155/2016/9579654
PMCID:
PMC4897665
AbstractArticlePDF–1.4M
2.
Evolving phenotype of Marfan's syndrome
K. Lipscomb, J. Clayton-Smith, R. Harris
Arch Dis Child. 1997 Jan; 76(1): 41–46. doi: 10.1136/adc.76.1.41
PMCID:
PMC1717050
SummaryPDF–107K
3.
Marfan's syndrome and the heart
Alan Graham Stuart, Andrew Williams
Arch Dis Child. 2007 Apr; 92(4): 351–356. doi: 10.1136/adc.2006.097469
PMCID:
PMC2083669
AbstractArticlePDF–206K
4.
Clinical features in a family with an R460H mutation in transforming growth factor β receptor 2 gene
C Law, D Bunyan, B Castle, L Day, I Simpson, G Westwood, B Keeton
J Med Genet. 2006 Dec; 43(12): 908–916. Published online 2006 Aug 2. doi: 10.1136/jmg.2006.042176
PMCID:
PMC2563201
AbstractArticlePDF–741K
5.
The role of genetics in stroke
John Francis, Senthil Raghunathan, Pradeep Khanna
Postgrad Med J. 2007 Sep; 83(983): 590–595. doi: 10.1136/pgmj.2007.060319
PMCID:
PMC2600010
AbstractArticlePDF–221K
6.
The non-syndromic familial thoracic aortic aneurysms and dissections maps to 15q21 locus
Ali R Keramati, Anita Sadeghpour, Maryam M Farahani, Gurangad Chandok, Arya Mani
BMC Med Genet. 2010; 11: 143. Published online 2010 Oct 11. doi: 10.1186/1471-2350-11-143
PMCID:
PMC2958900
AbstractArticlePDF–648K
7.
Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndrome
Svend Rand-Hendriksen, Rigmor Lundby, Lena Tjeldhorn, Kai Andersen, Jon Offstad, Svein Ove Semb, Hans-Jørgen Smith, Benedicte Paus, Odd Geiran
Eur J Hum Genet. 2009 Oct; 17(10): 1222–1230. Published online 2009 Mar 18. doi: 10.1038/ejhg.2009.30
Correction in:
Eur J Hum Genet. 2009 Nov; 17(11): 1526.
PMCID:
PMC2986651
AbstractArticlePDF–185K
8.
Thoracic Aortic Disease in Two Patients with Juvenile Polyposis Syndrome and SMAD4 mutations
Polakit Teekakirikul, Dianna M. Milewicz, David T. Miller, Ronald V. Lacro, Ellen S. Regalado, Ana Maria Rosales, Daniel P. Ryan, Tomi L. Toler, Angela E. Lin
Am J Med Genet A. Author manuscript; available in PMC 2014 Jan 1.
Published in final edited form as: Am J Med Genet A. 2013 Jan; 161(1): 185–191. Published online 2012 Dec 13. doi: 10.1002/ajmg.a.35659
PMCID:
PMC3535513
AbstractArticlePDF–306K
9.
FBN1 Mutations in Patients With Descending Thoracic Aortic Dissections
Ariel Brautbar, Scott A. LeMaire, Luis M. Franco, Joseph S. Coselli, Dianna M. Milewicz, John W. Belmont
Am J Med Genet A. Author manuscript; available in PMC 2013 Mar 11.
Published in final edited form as: Am J Med Genet A. 2010 Feb; 152A(2): 413–416. doi: 10.1002/ajmg.a.32856
PMCID:
PMC3593235
AbstractArticlePDF–38K
10.
Marfan Syndrome Caused by a Novel FBN1 Mutation With Associated Pigmentary Glaucoma
John Kuchtey, Ta Chen Chang, Lampros Panagis, Rachel W Kuchtey
Am J Med Genet A. 2013 Apr; 161(4): 880–883. Published online 2013 Feb 26. doi: 10.1002/ajmg.a.35838
PMCID:
PMC3638319
AbstractArticlePDF–1.8M
11.
Possible extracardiac predictors of aortic dissection in Marfan syndrome
Bence Ágg, Kálmán Benke, Bálint Szilveszter, Miklós Pólos, László Daróczi, Balázs Odler, Zsolt B Nagy, Ferenc Tarr, Béla Merkely, Zoltán Szabolcs
BMC Cardiovasc Disord. 2014; 14: 47. Published online 2014 Apr 11. doi: 10.1186/1471-2261-14-47
PMCID:
PMC4021409
AbstractArticlePDF–702K
12.
Familial occurrence and heritable connective tissue disorders in cervical artery dissection
Stéphanie Debette, Barbara Goeggel Simonetti, Sabrina Schilling, Juan José Martin, Manja Kloss, Hakan Sarikaya, Ingrid Hausser, Stefan Engelter, Tiina M. Metso, Alessandro Pezzini, Vincent Thijs, Emmanuel Touzé, Stefano Paolucci, Paolo Costa, Maria Sessa, Yves Samson, Yannick Béjot, Ayse Altintas, Antti J. Metso, Dominique Hervé, Christoph Lichy, Simon Jung, Urs Fischer, Chantal Lamy, Armin Grau, Hugues Chabriat, Valeria Caso, Philippe A. Lyrer, Christian Stapf, Turgut Tatlisumak, Tobias Brandt, Elisabeth Tournier-Lasserve, Dominique P. Germain, Michael Frank, Ralf W. Baumgartner, Caspar Grond-Ginsbach, Marie-Germaine Bousser, Didier Leys, Jean Dallongeville, Anna Bersano, Marcel Arnold, For the CADISP-plus consortium
Neurology. 2014 Nov 25; 83(22): 2023–2031. doi: 10.1212/WNL.0000000000001027
Correction in:
Neurology. 2016 Dec 6; 87(23): 2500.
PMCID:
PMC4248448
AbstractArticlePDF–382K
13.
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
AbstractArticlePDF–1.5M
14.
Affected Twins in the Familial Intracranial Aneurysm Study
Jason Mackey, Robert D. Brown, Jr., Laura Sauerbeck, Richard Hornung, Charles J. Moomaw, Daniel L. Koller, Tatiana Foroud, Ranjan Deka, Daniel Woo, Dawn Kleindorfer, Matthew L. Flaherty, Irene Meissner, Craig Anderson, Guy Rouleau, E. Sander Connolly, John Huston, III, Joseph P. Broderick
Cerebrovasc Dis. Author manuscript; available in PMC 2016 Jan 8.
Published in final edited form as: Cerebrovasc Dis. 2015; 39(2): 82–86. Published online 2015 Jan 8. doi: 10.1159/000369961
PMCID:
PMC4348212
AbstractArticlePDF–110K
15.
Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis
Gabe Haller, David M. Alvarado, Marcia C. Willing, Alan C. Braverman, Keith H. Bridwell, Michael Kelly, Lawrence G. Lenke, Scott J. Luhmann, Christina A. Gurnett, Matthew B. Dobbs
J Bone Joint Surg Am. 2015 Sep 2; 97(17): 1411–1417. Published online 2015 Sep 2. doi: 10.2106/JBJS.O.00290
PMCID:
PMC4551173
AbstractArticlePDF–523K
16.
Marfan's syndrome: an overview
Shi-Min Yuan, Hua Jing
Sao Paulo Med J. 2010; 128(6): 360–366. Published online 2010 Dec 2. doi: 10.1590/S1516-31802010000600009
PMCID:
PMC10948077
AbstractArticlePDF–596K
17.
Enlarged Dural Sac in Idiopathic Bronchiectasis Implicates Heritable Connective Tissue Gene Variants
M. Leigh Anne Daniels, Katherine R. Birchard, Jared R. Lowe, Michael V. Patrone, Peadar G. Noone, Michael R. Knowles
Ann Am Thorac Soc. 2016 Oct; 13(10): 1712–1720. doi: 10.1513/AnnalsATS.201603-161OC
PMCID:
PMC5122488
AbstractArticlePDF–824K
18.
Clinically Relevant Variants Identified in Thoracic Aortic Aneurysm Patients by Research Exome Sequencing
Jeffrey A. Schubert, Benjamin J. Landis, Amy R. Shikany, Robert B. Hinton, Stephanie M. Ware
Am J Med Genet A. Author manuscript; available in PMC 2016 Nov 28.
Published in final edited form as: Am J Med Genet A. 2016 May; 170A(5): 1288–1294. Published online 2016 Feb 7. doi: 10.1002/ajmg.a.37568
PMCID:
PMC5125072
AbstractArticlePDF–553K
19.
Genetic and Epigenetic Regulation of Aortic Aneurysms
Ha Won Kim, Brian K. Stansfield
Biomed Res Int. 2017; 2017: 7268521. Published online 2017 Jan 1. doi: 10.1155/2017/7268521
PMCID:
PMC5237727
AbstractArticlePDF–627K
20.
A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic Counseling
Emma Hitchcock, William T. Gibson
J Genet Couns. 2017; 26(1): 21–31. Published online 2016 Oct 14. doi: 10.1007/s10897-016-0029-8
PMCID:
PMC5258806
AbstractArticlePDF–551K

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