檢索結果 - Roberts, Amy E

Cardiomyopathies in Noonan syndrome and the other RASopathies 由 Gelb, Bruce D., Roberts, Amy E., Tartaglia, Marco

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Genetic Contribution to Neurodevelopmental Outcomes in Congenital Heart Disease: Are Some Patients Pre-Determined to Have Developmental Delay? 由 Rollins, Caitlin K., Newburger, Jane W., Roberts, Amy E.

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Heart Failure in Congenital Heart Disease: A confluence of acquired and congenital 由 Fahed, Akl C., Roberts, Amy E., Mital, Seema, Lakdawala, Neal K.

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Noonan syndrome 由 Roberts, Amy E, Allanson, Judith E, Tartaglia, Marco, Gelb, Bruce D

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Pulmonary Vein Stenosis in Patients with Smith-Lemli-Opitz Syndrome 由 Prosnitz, Aaron R., Leopold, Jane, Irons, Mira, Jenkins, Kathy, Roberts, Amy E.

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Retrospective Analysis of Clinical Genetic Testing in Pediatric Primary Dilated Cardiomyopathy: Testing Outcomes and the Effects of Variant Reclassification 由 Quiat, Daniel, Witkowski, Leora, Zouk, Hana, Daly, Kevin P., Roberts, Amy E.

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Genotype differences in cognitive functioning in Noonan syndrome 由 Pierpont, Elizabeth I., Pierpont, Mary Ella, Mendelsohn, Nancy J., Roberts, Amy E., Tworog-Dube, Erica, Seidenberg, Mark S.

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iPSC-derived cardiomyocytes reveal aberrant ERK5 and MEK1/2 signaling concomitantly promote hypertrophic cardiomyopathy in RAF1-associated Noonan Syndrome 由 Jaffré, Fabrice, Miller, Clint L., Schänzer, Anne, Evans, Todd, Roberts, Amy E., Hahn, Andreas, Kontaridis, Maria I.

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A SUGGESTED ROLE FOR MITOCHONDRIA IN NOONAN SYNDROME 由 Lee, Icksoo, Pecinova, Alena, Pecina, Petr, Neel, Benjamin G., Araki, Toshiyuki, Kucherlapati, Raju, Roberts, Amy E., Huttemann, Maik

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Effects of Germline Mutations in the Ras/MAPK Signaling Pathway on Adaptive Behavior: Cardiofaciocutaneous Syndrome and Noonan Syndrome 由 Pierpont, Elizabeth I., Pierpont, Mary Ella, Mendelsohn, Nancy J., Roberts, Amy E., Tworog-Dube, Erica, Rauen, Katherine A., Seidenberg, Mark S.

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The Language Phenotype of Children and Adolescents With Noonan Syndrome 由 Pierpont, Elizabeth I., Weismer, Susan Ellis, Roberts, Amy E., Tworog-Dube, Erica, Pierpont, Mary Ella, Mendelsohn, Nancy J., Seidenberg, Mark S.

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Congenital Chylothorax As The Initial Presentation Of PTPN11-Associated Noonan Syndrome 由 Ebrahimi-Fakhari, Darius, Freiman, Eli, Wojcik, Monica H., Krone, Katie, Casey, Alicia, Winn, Ariel S., Roberts, Amy E., Harper, Beth D.

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Shared Genetic Causes of Cardiac Hypertrophy in Children and Adults 由 Morita, Hiroyuki, Rehm, Heidi L., Menesses, Andres, McDonough, Barbara, Roberts, Amy E., Kucherlapati, Raju, Towbin, Jeffrey A., Seidman, J.G., Seidman, Christine E.

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Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis 由 Zaidi, Abbas H., Yamada, Jessica M., Miller, David T., McEnaney, Kerry, Ireland, Christina, Roberts, Amy E., Gauvreau, Kimberlee, Jenkins, Kathy J., Chen, Ming Hui

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Generation of an induced pluripotent stem cell line (TRNDi003-A) from a Noonan syndrome with multiple lentigines (NSML) patient carrying a p.Q510P mutation in the PTPN11 gene 由 Li, Rong, Baskfield, Amanda, Lin, Yongshun, Beers, Jeanette, Zou, Jizhong, Liu, Chengyu, Jaffré, Fabrice, Roberts, Amy E., Ottinger, Elizabeth A., Kontaridis, Maria I., Zheng, Wei

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Novel Presentation of Omenn Syndrome in Association with Aniridia 由 Sheehan, William J., Delmonte, Ottavia M., Miller, David T., Roberts, Amy E., Bonilla, Francisco A., Morra, Massimo, Giliani, Silvia, Pai, Sung-Yun, Notarangelo, Luigi D., Oettgen, Hans C.

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TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome 由 Milunsky, Jeff M., Maher, Tom A., Zhao, Geping, Roberts, Amy E., Stalker, Heather J., Zori, Roberto T., Burch, Michelle N., Clemens, Michele, Mulliken, John B., Smith, Rosemarie, Lin, Angela E.

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TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome 由 Milunsky, Jeff M., Maher, Tom A., Zhao, Geping, Roberts, Amy E., Stalker, Heather J., Zori, Roberto T., Burch, Michelle N., Clemens, Michele, Mulliken, John B., Smith, Rosemarie, Lin, Angela E.

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Neuropsychological Status and Structural Brain Imaging in Adolescents With Single Ventricle Who Underwent the Fontan Procedure 由 Bellinger, David C., Watson, Christopher G., Rivkin, Michael J., Robertson, Richard L., Roberts, Amy E., Stopp, Christian, Dunbar‐Masterson, Carolyn, Bernson, Dana, DeMaso, David R., Wypij, David, Newburger, Jane W.

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Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield 由 Geng, Juan, Picker, Jonathan, Zheng, Zhaojing, Zhang, Xiaoqing, Wang, Jian, Hisama, Fuki, Brown, David W, Mullen, Mary P, Harris, David, Stoler, Joan, Seman, Ann, Miller, David T, Fu, Qihua, Roberts, Amy E, Shen, Yiping

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