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Items: 1 to 20 of 55

1.

Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects.

Rambo-Martin BL, Mulle JG, Cutler DJ, Bean LJH, Rosser TC, Dooley KJ, Cua C, Capone G, Maslen CL, Reeves RH, Sherman SL, Zwick ME.

G3 (Bethesda). 2017 Nov 15. pii: g3.300366.2017. doi: 10.1534/g3.117.300366. [Epub ahead of print]

2.

Bicuspid and unicuspid aortic valves: Different phenotypes of the same disease? Insight from the GenTAC Registry.

Krepp JM, Roman MJ, Devereux RB, Bruce A, Prakash SK, Morris SA, Milewicz DM, Holmes KW, Ravekes W, Shohet RV, Pyeritz RE, Maslen CL, Kroner BL, Eagle KA, Preiss L; GenTAC Investigators, Asch FM.

Congenit Heart Dis. 2017 Dec;12(6):740-745. doi: 10.1111/chd.12520. Epub 2017 Aug 14.

PMID:
28805011
3.

Associations of Age and Sex With Marfan Phenotype: The National Heart, Lung, and Blood Institute GenTAC (Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions) Registry.

Roman MJ, Devereux RB, Preiss LR, Asch FM, Eagle KA, Holmes KW, LeMaire SA, Maslen CL, Milewicz DM, Morris SA, Prakash SK, Pyeritz RE, Ravekes WJ, Shohet RV, Song HK, Weinsaft JW; GenTAC Investigators*.

Circ Cardiovasc Genet. 2017 Jun;10(3). pii: e001647. doi: 10.1161/CIRCGENETICS.116.001647.

PMID:
28600386
4.

Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry.

Prakash SK, Bondy CA, Maslen CL, Silberbach M, Lin AE, Perrone L, Limongelli G, Michelena HI, Bossone E, Citro R; BAVCon Investigators, GenTAC Registry Investigators, Lemaire SA, Body SC, Milewicz DM.

Am J Med Genet A. 2016 Dec;170(12):3157-3164. doi: 10.1002/ajmg.a.37953. Epub 2016 Sep 8.

5.

Aortic Complications Associated With Pregnancy in Marfan Syndrome: The NHLBI National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC).

Roman MJ, Pugh NL, Hendershot TP, Devereux RB, Dietz H, Holmes K, Eagle KA, LeMaire SA, Milewicz DM, Morris SA, Pyeritz RE, Ravekes WJ, Shohet RV, Silberbach M; GenTAC InvestigatorsDietzHarry C.HabashiJenniferPrakashSiddharth K.MaslenCheryl L.SongHoward K.BavariaJoseph E.MilewskiKariannaWeinsaftJonathan W.McDonnellNazliAschFederico M.TolunayH. EserDesvigne‐NickensPatriceTsengHungKronerBarbara L.

J Am Heart Assoc. 2016 Aug 11;5(8). pii: e004052. doi: 10.1161/JAHA.116.004052.

6.

Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms.

Burnicka-Turek O, Steimle JD, Huang W, Felker L, Kamp A, Kweon J, Peterson M, Reeves RH, Maslen CL, Gruber PJ, Yang XH, Shendure J, Moskowitz IP.

Hum Mol Genet. 2016 Jul 15;25(14):3011-3028. Epub 2016 Jun 23.

7.

Recurrent Rare Genomic Copy Number Variants and Bicuspid Aortic Valve Are Enriched in Early Onset Thoracic Aortic Aneurysms and Dissections.

Prakash S, Kuang SQ; GenTAC Registry Investigators, Regalado E, Guo D, Milewicz D.

PLoS One. 2016 Apr 19;11(4):e0153543. doi: 10.1371/journal.pone.0153543. eCollection 2016.

8.

Penetrance of Congenital Heart Disease in a Mouse Model of Down Syndrome Depends on a Trisomic Potentiator of a Disomic Modifier.

Li H, Edie S, Klinedinst D, Jeong JS, Blackshaw S, Maslen CL, Reeves RH.

Genetics. 2016 Jun;203(2):763-70. doi: 10.1534/genetics.116.188045. Epub 2016 Mar 30.

9.

The Need for Standardized Methods for Measuring the Aorta: Multimodality Core Lab Experience From the GenTAC Registry.

Asch FM, Yuriditsky E, Prakash SK, Roman MJ, Weinsaft JW, Weissman G, Weigold WG, Morris SA, Ravekes WJ, Holmes KW, Silberbach M, Milewski RK, Kroner BL, Whitworth R, Eagle KA, Devereux RB, Weissman NJ; GenTAC Investigators.

JACC Cardiovasc Imaging. 2016 Mar;9(3):219-26. doi: 10.1016/j.jcmg.2015.06.023. Epub 2016 Feb 17.

10.

A deleterious gene-by-environment interaction imposed by calcium channel blockers in Marfan syndrome.

Doyle JJ, Doyle AJ, Wilson NK, Habashi JP, Bedja D, Whitworth RE, Lindsay ME, Schoenhoff F, Myers L, Huso N, Bachir S, Squires O, Rusholme B, Ehsan H, Huso D, Thomas CJ, Caulfield MJ, Van Eyk JE, Judge DP, Dietz HC; GenTAC Registry Consortium; MIBAVA Leducq Consortium.

Elife. 2015 Oct 27;4. pii: e08648. doi: 10.7554/eLife.08648.

11.

Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects.

Ramachandran D, Zeng Z, Locke AE, Mulle JG, Bean LJ, Rosser TC, Dooley KJ, Cua CL, Capone GT, Reeves RH, Maslen CL, Cutler DJ, Feingold E, Sherman SL, Zwick ME.

G3 (Bethesda). 2015 Jul 20;5(10):1961-71. doi: 10.1534/g3.115.019943.

12.

Proceedings from the Turner Resource Network symposium: the crossroads of health care research and health care delivery.

Backeljauw PF, Bondy C, Chernausek SD, Cernich JT, Cole DA, Fasciano LP, Foodim J, Hawley S, Hong DS, Knickmeyer RC, Kruszka P, Lin AE, Lippe BM, Lorigan GA, Maslen CL, Mauras N, Page DC, Pemberton VL, Prakash SK, Quigley CA, Ranallo KC, Reiss AL, Sandberg DE, Scurlock C, Silberbach M.

Am J Med Genet A. 2015 Sep;167A(9):1962-71. doi: 10.1002/ajmg.a.37121. Epub 2015 Apr 29.

13.

Contribution of copy-number variation to Down syndrome-associated atrioventricular septal defects.

Ramachandran D, Mulle JG, Locke AE, Bean LJ, Rosser TC, Bose P, Dooley KJ, Cua CL, Capone GT, Reeves RH, Maslen CL, Cutler DJ, Sherman SL, Zwick ME.

Genet Med. 2015 Jul;17(7):554-60. doi: 10.1038/gim.2014.144. Epub 2014 Oct 23.

14.

Allelic Interaction between CRELD1 and VEGFA in the Pathogenesis of Cardiac Atrioventricular Septal Defects.

Redig JK, Fouad GT, Babcock D, Reshey B, Feingold E, Reeves RH, Maslen CL.

AIMS Genet. 2014;1(1):1-19.

15.

Valve-sparing aortic root replacement in patients with Marfan syndrome enrolled in the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions.

Song HK, Preiss LR, Maslen CL, Kroner B, Devereux RB, Roman MJ, Holmes KW, Tolunay HE, Desvigne-Nickens P, Asch FM, Milewski RK, Bavaria J, LeMaire SA; GenTAC Consortium.

J Heart Valve Dis. 2014 May;23(3):292-8.

16.

Abnormal muscle mechanosignaling triggers cardiomyopathy in mice with Marfan syndrome.

Cook JR, Carta L, Bénard L, Chemaly ER, Chiu E, Rao SK, Hampton TG, Yurchenco P; GenTAC Registry Consortium, Costa KD, Hajjar RJ, Ramirez F.

J Clin Invest. 2014 Mar;124(3):1329-39. doi: 10.1172/JCI71059. Epub 2014 Feb 17.

17.

Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections.

Guo DC, Regalado E, Casteel DE, Santos-Cortez RL, Gong L, Kim JJ, Dyack S, Horne SG, Chang G, Jondeau G, Boileau C, Coselli JS, Li Z, Leal SM, Shendure J, Rieder MJ, Bamshad MJ, Nickerson DA; GenTAC Registry Consortium; National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project, Kim C, Milewicz DM.

Am J Hum Genet. 2013 Aug 8;93(2):398-404. doi: 10.1016/j.ajhg.2013.06.019. Epub 2013 Aug 1.

18.

Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome.

Prakash S, Guo D, Maslen CL, Silberbach M, Milewicz D, Bondy CA; GenTAC Investigators.

Genet Med. 2014 Jan;16(1):53-9. doi: 10.1038/gim.2013.77. Epub 2013 Jun 6. Erratum in: Genet Med. 2014 Jan;16(1):117.

19.

GenTAC registry report: gender differences among individuals with genetically triggered thoracic aortic aneurysm and dissection.

Holmes KW, Maslen CL, Kindem M, Kroner BL, Song HK, Ravekes W, Dietz HC, Weinsaft JW, Roman MJ, Devereux RB, Pyeritz RE, Bavaria J, Milewski K, Milewicz D, LeMaire SA, Hendershot T, Eagle KA, Tolunay HE, Desvigne-Nickens P, Silberbach M; GenTAC Registry Consortium.

Am J Med Genet A. 2013 Apr;161A(4):779-86. doi: 10.1002/ajmg.a.35836. Epub 2013 Feb 26.

20.

Clopidogrel variability: role of plasma protein binding alterations.

Ganesan S, Williams C, Maslen CL, Cherala G.

Br J Clin Pharmacol. 2013 Jun;75(6):1468-77. doi: 10.1111/bcp.12017.

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