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  • 5 Similar Profiles
Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Marfan Syndrome Medicine & Life Sciences
Down Syndrome Medicine & Life Sciences
Thoracic Aortic Aneurysm Medicine & Life Sciences
Registries Medicine & Life Sciences
Smith-Lemli-Opitz Syndrome Medicine & Life Sciences
Dissection Medicine & Life Sciences

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Projects 1976 2009

BEALS' SYNDROME AND ITS RELATIONSHIP TO MARFAN SYNDROME

Maslen, C.

National Institutes of Health

9/1/938/31/99

Project: Research projectJames A. Shannon Director's Award

Marfan Syndrome
Congenital contractural arachnodactyly
Proteins
Genes
Mutation

GENERAL CLINICAL RESEARCH CENTER

Hammerstad, J., Kendall, J., Hanifin, J., Kaye, J., Lafranchi, S., Lewy, A., Burchiel, K., Bennett, R. (., Loriaux, D. (., Goldberg, L., Sack, R., Duell, P., Maslen, C., Nutt, J., Samuels, M., Shangraw, R., Orwoll, E., Kuehl, K., Elliot, D., Harding, C., Pantely, G., Rosenbaum, J. (., Anderson, V., Ahmann, A., Moneta, G. (., Pantely, G., Edwards, J., Bourdette, D., Oken, B., Loriaux, D. (., Slifka, M., Lafranchi, S., Purnell, J., Townes, J., Raber, J., Rosenbaum, J. (., Shannon, J. (., Neuwelt, E., Kaye, J., Picker, L., Jones, K., Gillingham, M., Quinn, J., Schreiber, M., Edwards, J., Beer, T. (., Hayflick, S., Bubalo, J., Lewy, A., Hogarth, P. (., Burchiel, K., Bagby, G., Stadler, D., Holland, J., Marks, D., Silbert, L., Shinto, L., Chung, K. (., Leiberman, D., Sexton, G., Jhaveri, B., Burry, K., Young, E., Talwalker, Y., Mc Donald, W., Mosely, H. S., Fireman, M., McClung, M., Albertson, B., Denny, D., Loveless, M., Woltering, E. A., Mc Carron, D., Elliott, D., Conner, W., Sammuels, M., Linz, D., Bardana, E., Pirofsky, B., Mc Clung, M., Muther, R., Coull, B., Buist, N., Bohanon, L., McCall, A., Ellison, D., Levy, A., Porer, J., Lowe, B., Piropsky, B., Fletcher, W., Goodnight, S., Golper, T. A., McDonald, W., Samples, J., Thomas, K., Nordoy, A., Kelleher, A., Striegel, J., Lowensohn, R., Mc Anulty, J., Hollenbeck, C., Greer, M., Benson, J., McCarron, D., Cook, D., Bennett, W., Kohler, P., McAnulty, J., Henner, W., Connor, S., Baizer, L., Wildin, R., Norman, D., Rittenbaugh, C., Faber, J. J., McMurry, M., Chou, S., Holden, W., Stubbs, E. G., Boston, B., van Winkle, D., Koop, D. R., Nicholson, H. S., Barker, A., Olsen, G., Dorsa, D. M., Maneckjee, R., Harker, C., Andrew, K., Denney, D., Gaboury, C., Bethea, C. L., Demattos, A., Mowry, J., Steiner, R., Nichols, M., Deloughery, T., Westfall, U. E., Rosen, H., Payami, H., Zaman, A., Ritenbaugh, C., Pommier, R., Schwartz, A., Jau-Shin, L., Karanja, N., Taylor, L., Hatton, D., Al-Uzri, A., Janowsky, J., Steiner, R., Winters-Stone, K., Rosen, H. R., Chugh, S., Johnson, K., Riddle, M., Hershberger, R., Emens, J., Nelson, J., Habecker, B., Madden, T., Mitchell, S., Jobe, B. A., Nedrow, A., Roselli, C. E., Lampi, K. J., Colbert, A. P., Nelson, D., Keepers, G., Wall, M., Clark, W., Shuler, C., Wolfson, M., Munar, M., Smilkstein, M., Moffit, M., Coodley, G., Wheeler, D., Flora, K., Jacobson, S., Eisenberg, J., Delashaw, J., Hoffman, W., Illingworth D. Roger, [. V., Gancher, S., Riddle, M., Taylor, L., Janowsky, J., Halperin, B., Hershberger, R., Nelson, J., Rabkin, J., Illingworth, D. R., Porter, J. M., Woods, L., Singer, C., Camicioli, R., Thornburg, K. L., Connor, W. E. & Benner, K.

National Institutes of Health

12/1/7611/30/09

Project: Research projectGeneral Clinical Research Centers Program

Melatonin
Therapeutics
Levodopa
Parkinson Disease
Hydrocortisone

Research Output 1988 2017

  • 3616 Citations
  • 24 h-Index
  • 64 Article
  • 1 Chapter
2 Citations

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, M. J., Devereux, R. B., Preiss, L. R., Asch, F. M., Eagle, K. A., Holmes, K. W., Lemaire, S. A., Maslen, C. L., Milewicz, D. M., Morris, S. A., Prakash, S. K., Pyeritz, R. E., Ravekes, W. J., Shohet, R. V., Song, H. K. & Weinsaft, J. W. Jun 1 2017 In : Circulation: Cardiovascular Genetics. 10, 3, e001647

Research output: Research - peer-reviewArticle

National Heart, Lung, and Blood Institute (U.S.)
Thoracic Aortic Aneurysm
Registries
Dissection
Phenotype

The Arizona cognitive test battery for down syndrome: Test-retest reliability & practice effects

Edgin, J. O., Anand, P., Rosser, T., Pierpont, E. I., Figueroa, C., Hamilton, D., Huddleston, L., Mason, G., Spaǹo, G., Toole, L., Nguyen-Driver, M., Capone, G., Abbeduto, L., Maslen, C., Reeves, R. H. & Sherman, S. May 1 2017 In : American Journal on Intellectual and Developmental Disabilities. 122, 3, p. 215-234 20 p.

Research output: Research - peer-reviewArticle

Down Syndrome
Test-retest Reliability
Battery
Reproducibility of Results
Practice (Psychology)
8 Citations

Aortic Dissection in Patients With Genetically Mediated Aneurysms: Incidence and Predictors in the GenTAC Registry

Weinsaft, J. W. , Devereux, R. B. , Preiss, L. R. , Feher, A. , Roman, M. J. , Basson, C. T. , Geevarghese, A. , Ravekes, W. , Dietz, H. C. , Holmes, K. , Habashi, J. , Pyeritz, R. E. , Bavaria, J. , Milewski, K. , LeMaire, S. A. , Morris, S. , Milewicz, D. M. , Prakash, S. , Maslen, C. , Song, H. K. & 7 others Silberbach, G. M., Shohet, R. V., McDonnell, N., Hendershot, T., Eagle, K. A., Asch, F. M. & on behalf of the GENTAC Registry Investigators 2016 In : Journal of the American College of Cardiology. 67, 23, p. 2744-2754 11 p.

Research output: Research - peer-reviewArticle

Aneurysm
Registries
Dissection
Incidence
Thoracic Aortic Aneurysm
4 Citations

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

Prakash, S. K., Bondy, C. A., Maslen, C. L., Silberbach, M., Lin, A. E., Perrone, L., Limongelli, G., Michelena, H. I., Bossone, E., Citro, R., Lemaire, S. A., Body, S. C., Milewicz, D. M. & BAVCon Investigators, GenTAC Registry Investigators Dec 1 2016 In : American Journal of Medical Genetics, Part A. 170, 12, p. 3157-3164 8 p.

Research output: Research - peer-reviewArticle

National Heart, Lung, and Blood Institute (U.S.)
Turner Syndrome
Congenital Heart Defects
X Chromosome
Registries
1 Citations

Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms

Burnicka-Turek, O., Steimle, J. D., Huang, W., Felker, L., Kamp, A., Kweon, J., Peterson, M., Reeves, R. H., Maslen, C. L., Gruber, P. J., Yang, X. H., Shendure, J. & Moskowitz, I. P. 2016 In : Human Molecular Genetics. 25, 14, p. 3011-3028 18 p.

Research output: Research - peer-reviewArticle

Cilia
Mutation
Genes
Atrioventricular Septal Defect
Hedgehogs