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  • 2 Similar Profiles
Marfan Syndrome Medicine & Life Sciences
Thoracic Aortic Aneurysm Medicine & Life Sciences
Down Syndrome Medicine & Life Sciences
Mutation Medicine & Life Sciences
Smith-Lemli-Opitz Syndrome Medicine & Life Sciences
Registries Medicine & Life Sciences
Genes Medicine & Life Sciences
Turner Syndrome 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
Proteins
Genes
Mutation
Congenital contractural arachnodactyly

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., Nelson, J. & Nelson, J.

National Institutes of Health

12/1/7611/30/09

Project: Research projectGeneral Clinical Research Centers Program

Melatonin
Levodopa
Parkinson Disease
Hydrocortisone
Parkinsonian Disorders

Research Output 1988 2018

  • 3766 Citations
  • 25 h-Index
  • 67 Article
  • 1 Chapter
1 Citations

Analysis of copy number variants on chromosome 21 in down syndrome-associated congenital heart defects

Rambo-Martin, B. L., Mulle, J. G., Cutler, D. J., Bean, L. J. H., Rosser, T. C., Dooley, K. J., Cua, C., Capone, G., Maslen, C. L., Reeves, R. H., Sherman, S. L. & Zwick, M. E. Jan 1 2018 In : G3: Genes, Genomes, Genetics. 8, 1, p. 105-111 7 p.

Research output: Contribution to journalArticle

Chromosomes, Human, Pair 21
Congenital Heart Defects
Down Syndrome
African Americans
Atrioventricular Septal Defect
Turner Syndrome
Aortic Aneurysm
Population
Young Adult
Pediatrics
4 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: Contribution to journalArticle

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

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

GenTAC Investigators Nov 1 2017 In : Congenital Heart Disease. 12, 6, p. 740-745 6 p.

Research output: Contribution to journalArticle

Aortic Valve
Registries
Phenotype
Aortic Valve Stenosis
Aortic Aneurysm
1 Citations

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: Contribution to journalArticle

Down Syndrome
Reproducibility of Results
Intellectual Disability
Clinical Trials
Practice (Psychology)