Search Results - "Pierpont, Mary Ella M"

Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines by Pierpont, Mary Ella M, Magoulas, Pilar L, Adi, Saleh, Kavamura, Maria Ines, Neri, Giovanni, Noonan, Jacqueline, Pierpont, Elizabeth I, Reinker, Kent, Roberts, Amy E, Shankar, Suma, Sullivan, Joseph, Wolford, Melinda, Conger, Brenda, Santa Cruz, Molly, Rauen, Katherine A

“…Cardio-facio-cutaneous syndrome (CFC) is one of the RASopathies that bears many clinical features in common with the other syndromes in this group, most…”
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Children with Thoracic Aortic Aneurysm: Challenges in Diagnosis and Therapy by Pierpont, Mary Ella M., MD, PhD, Lacro, Ronald V., MD

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Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus by Pierpont, Mary Ella M, Satoda, Masahiko, Gelb, Bruce D, Goodship, Judith, Burn, John, Diaz, George A, Davidson, H. Rosemarie, Zhao, Feng

“…Char syndrome is an autosomal dominant trait characterized by patent ductus arteriosus, facial dysmorphism and hand anomalies. Using a positional candidacy…”
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Alagille syndrome is caused by mutations in human Jagged1 , which encodes a ligand for Notch1 by Li, Linheng, Krantz, Ian D, Deng, Yu, Genin, Anna, Banta, Amy B, Collins, Colin C, Qi, Ming, Trask, Barbara J, Kuo, Wen Lin, Cochran, Joanne, Costa, Teresa, Pierpont, Mary Ella M, Rand, Elizabeth B, Piccoli, David A, Hood, Leroy, Spinner, Nancy B

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The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly by Nanni, Luisa, Ming, Jeffrey E., Bocian, Maureen, Steinhaus, Kathryn, Bianchi, Diana W., de Die-Smulders, Christine, Giannotti, Aldo, Imaizumi, Kiyoshi, Jones, Kenneth L., Del Campo, Miguel, Martin, Rick A., Meinecke, Peter, Pierpont, Mary Ella M., Robin, Nathaniel H., Young, Ian D., Roessler, Erich, Muenke, Maximilian

“…Holoprosencephaly (HPE) is a common developmental anomaly of the human forebrain and midface where the cerebral hemispheres fail to separate into distinct left…”
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Different TBX5 Interactions in Heart and Limb Defined by Holt-Oram Syndrome Mutations by Basson, Craig T., Huang, Taosheng, Lin, Robert C., Bachinsky, David R., Weremowicz, Stanislawa, Vaglio, Alicia, Bruzzone, Rina, Quadrelli, Roberto, Lerone, Margherita, Romeo, Giovanni, Silengo, Margherita, Pereira, Alexandre, Krieger, Jose, Mesouita, Sonia F., Kamisago, Mitsuhiro, Morton, Cynthia C., Mary Ella M. Pierpont, Müller, Chistoph W., Seidman, J. G., Seidman, Christine E.

“…To better understand the role of TBX5, a T-box containing transcription factor in forelimb and heart development, we have studied the clinical features of…”
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Novel TFAP2B Mutations That Cause Char Syndrome Provide a Genotype-Phenotype Correlation by Zhao, Feng, Weismann, Constance G., Satoda, Masahiko, Pierpont, Mary Ella M., Sweeney, Elizabeth, Thompson, Elizabeth M., Gelb, Bruce D.

“…To elucidate further the role, in normal development and in disease pathogenesis, of TFAP2B, a transcription factor expressed in neuroectoderm, we studied…”
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Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux by Sanyanusin, Phaikasame, Schimmenti, Lisa A, McNoe, Leslie A, Ward, Teresa A, Pierpont, Mary Ella M, Sullivan, Michael J, Dobyns, William B, Eccles, Michael R

“…Paired box (PAX) genes play a critical role in human development and disease. The PAX2 gene is expressed in primitive cells of the kidney, ureter, eye, ear and…”
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Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21 by Satoda, M, Pierpont, M E, Diaz, G A, Bornemeier, R A, Gelb, B D

“…Patent ductus arteriosus (PDA) is a relatively common form of congenital heart disease. Although polygenic inheritance has been implicated, no specific gene…”
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Familial carnitine transporter defect: A treatable cause of cardiomyopathy in children by Pierpont, Mary Ella M, Breningstall, Galen N, Stanley, Charles A, Singh, Amarjit

“…Carnitine transporter defect is characterized by severely reduced transport of carnitine into skeletal muscle, fibroblasts, and renal tubules. All children…”
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Health-Related Quality of Life in Children and Young Adults with Marfan Syndrome by Uzark, Karen, Pemberton, Victoria L., Atz, Teresa W., Cappella, Elizabeth, Levine, Jami C., Lindauer, Bergen, Markham, Larry W., Morrison, Tonia, Olson, Aaron K., Pierpont, Mary Ella M., Pyeritz, Reed E., Radojewski, Elizabeth A., Roman, Mary J., Xu, Mingfen, Lacro, Ronald V., Pearson, Gail, Stylianou, Mario, Tennstedt, Sharon, Colan, Steven, Klein, Gloria, Guey, Lin, Chen, Shan, Olesker, Tanya, Teitel, David F., King, Martha, Lai, Wyman, Paridon, Stephen, Gleason, Marie, Mirarchi, Nicole, DiLullo, Sandra, Ejembi, Agbenu, Morgan, Ruth, Border, William, Cnota, James, Hogan, Kathryn, Barnard, Teresa, Anderson, Page A.W., Wechsler, Stephanie Burns, Sang, Charles, Covitz, Wesley, Crawford, Kari, Saul, J. Philip, Forbus, Geoffrey, Choudhury, Aparna, Minich, LuAnn, Williams, Richard, Shearrow, Marian, Russell, Jennifer, Colman, Jack, Khaikin, Svetlana, Slater, Nancy, Dietz, Harry C., Sparks, Elisabeth, MacCarrick, Gretchen, Leadroot, Jennifer, Canter, Charles, Rainey, Cheryl, Slesnick, Timothy, Tenende, Tunu, Liang, David, Merkel, Elisabeth, Loeys, Bart, Cobben, Jan Maarten, De Paepe, Anne, Gelb, Bruce, Srivastava, Shubhika, Mendiz-Ramdeen, Tejani, Weismann, Constance, Lawrence, Emily, Chin, Stephanie, Ko, Helen, Le Yau, Jen, Webber, Steven, Drant, Stacey, Stiegler, Kevin, Sommers, Sue, Madison, Carol, Young, Luciana, Domenico, Megan, Waitzman, Kathryn, Baker, Charles, Overman, Alison, Rimoin, David, Pariani, Mitchel, Siegel, Robert, Rafique, Asim, Grossfeld, Paul, Smith, Arlene, McLees-Palinkas, Terri, Colan, Steven D., Rivera, Marga, Artman, Michael, Austin, Erle, Baldwin, H. Scott, Johnson, Julie, Klitzner, Thomas, Matherne, G. Paul, Galantowicz, Mark, Knight, Thomas J., Taylor, Holly

“…To assess health-related quality of life (HRQOL) in a large multicenter cohort of children and young adults with Marfan syndrome participating in the Pediatric…”
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Unbalanced 4;6 translocation and progressive renal disease by Pierpont, Mary Ella M., Hentges, Amy S., Gears, Lisa J., Hirsch, Betsy, Sinaiko, Alan

“…Two sibs are described with an unbalanced 4;6 translocation resulting in partial trisomy 6p and monosomy for distal 4p. Growth retardation, psychomotor…”
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Is Age a Contributory Factor of Mitochondrial Bioenergetic Decline and DNA Defects in Idiopathic Dilated Cardiomyopathy? by Marin-Garcia, Jose, Goldenthal, Michael J, Pierpont, Mary Ella M, Ananthakrishnan, Radha, Perez-Atayde, Antonio

“…While mitochondrial abnormalities are increasingly recognized in cardiac diseases including hypertrophic cardiomyopathy, their presence in idiopathic dilated…”
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Abstract 9979: Health-Related Quality of Life in Children With Marfan Syndrome by Handisides, Jill C, Hollenbeck-Pringle, Danielle, Uzark, Karen, Trachtenberg, Felicia L, Pemberton, Victoria L, Atz, Teresa W, Bradley, Timothy J, De Nobele, Sylvia, Groh, Georgeann K, Hamstra, Michelle S, Korsin, Rosalind, Levine, Jami C, Mac Neal, Meghan K, Markham, Larry W, Morrison, Tonia, Mussatto, Kathleen, Olson, Aaron K, Pierpont, Mary Ella M, Roman, Mary J, Pyeritz, Reed E, Radojewski, Elizabeth A, Robinson, Michelle, Sparks, Elizabeth A, Waitzman, Kathryn, Xu, Mingfen, Lacro, Ronald V

“…BackgroundMarfan syndrome (MFS) is an autosomal dominant disorder that affects the heart, aorta, eyes, skeleton, lungs, and other organs.ObjectiveTo assess…”
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Jarcho-Levin syndrome: four new cases and classification of subtypes by Karnes, P S, Day, D, Berry, S A, Pierpont, M E

“…The Jarcho-Levin syndrome is a condition manifested by vertebral body and related rib malformations. We report on four new cases and review 57 cases from the…”
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Variation in severity of cardiac disease in Holt-Oram syndrome by Sletten, Lisa J., Pierpont, Mary Ella M.

“…We describe a family with Holt‐Oram syndrome (HOS) with variable hand and cardiac manifestations. One affected relative had complex congenital malformations of…”
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Carnitine alterations in spontaneous and drug-induced turkey congestive cardiomyopathy by PIERPONT, M. E. M, JUDD, D, BORGWARDT, B, NOREN, G. R, STALEY, N. A, EINZIG, S

“…Carnitine and acylcarnitines were measured in plasma and tissues of control turkeys, turkeys with an inbred spontaneous cardiomyopathy, and turkeys with…”
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Cerebello-oculo-renal syndromes including Arima, Senior-L ken and COACH syndromes: More than just variants of Joubert syndrome by Satran, Daniel, Pierpont, Mary Ella M., Dobyns, William B.

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Congenital cardiac malformations in Adams-Oliver syndrome by Zapata, H H, Sletten, L J, Pierpont, M E

“…Two patients with Adams-Oliver syndrome and congenital cardiac malformations are described. A literature review revealed at 13.4% occurrence of congenital…”
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Specific mitochondrial DNA deletions in idiopathic dilated cardiomyopathy by MARIN-GARCIA, J, GOLDENTHAL, M. J, ANANTHAKRISHNAN, R, PIERPONT, M. E. M, FRICKER, F. J, LIPSHULTZ, S. E, PEREZ-ATAYDE, A

“…Structural changes in human mitochondrial DNA (mtDNA) have been implicated in a number of clinical conditions with dysfunctions in oxidative phosphorylation…”
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