M
Mary Ella M Pierpont
Researcher at University of Minnesota
Publications - 109
Citations - 9387
Mary Ella M Pierpont is an academic researcher from University of Minnesota. The author has contributed to research in topics: Noonan syndrome & Cardiomyopathy. The author has an hindex of 43, co-authored 109 publications receiving 8369 citations. Previous affiliations of Mary Ella M Pierpont include Harvard University & Children's Hospitals and Clinics of Minnesota.
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Journal ArticleDOI
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
Linheng Li,Ian D. Krantz,Yu Deng,Yu Deng,Anna Genin,Amy B. Banta,Colin Collins,Ming Qi,Barbara J. Trask,Wen Lin Kuo,Joanne Cochran,Teresa Costa,Mary Ella M Pierpont,Elizabeth B. Rand,David A. Piccoli,Leroy Hood,Nancy B. Spinner +16 more
TL;DR: Four distinct coding mutations in JAG1 are demonstrated, providing evidence that it is the causal gene for Alagille syndrome, and supporting the hypothesis that haploinsufficiency for this gene is one of the mechanisms causing the Alagile syndrome phenotype.
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Genetic Basis for Congenital Heart Defects: Current Knowledge A Scientific Statement From the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young
Mary Ella M Pierpont,Craig T. Basson,D. Woodrow Benson,Bruce D. Gelb,Therese M. Giglia,Elizabeth Goldmuntz,Glenn McGee,Craig Sable,Deepak Srivastava,Catherine L. Webb +9 more
TL;DR: It is anticipated that this summary will update a wide range of medical personnel about the genetic aspects of congenital heart disease and will encourage an interdisciplinary approach to the child and adult with congenitals heart disease.
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Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux
Phaikasame Sanyanusin,Lisa A. Schimmenti,Leslie A. McNoe,Teresa A. Ward,Mary Ella M Pierpont,Michael J. Sullivan,William B. Dobyns,Michael R. Eccles +7 more
TL;DR: In this article, a single nucleotide deletion in exon five caused a frame shift of the PAX2 coding region in the octapeptide domain, causing a mutation that resulted in a phenotype similar to Krd mutant mice.
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Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines
Alicia A Romano,Judith Allanson,Jovanna Dahlgren,Bruce D. Gelb,Bryan D. Hall,Mary Ella M Pierpont,Mary Ella M Pierpont,Amy E. Roberts,Wanda Robinson,Clifford M. Takemoto,Jacqueline A. Noonan +10 more
TL;DR: The NSSG convened a conference of health care providers, all involved in various aspects of NS, to develop guidelines for use by pediatricians in the diagnosis and management of individuals with NS and to provide updated genetic findings.
Journal ArticleDOI
Atenolol versus Losartan in Children and Young Adults with Marfan's Syndrome
Ronald V. Lacro,Harry C. Dietz,Lynn A. Sleeper,Anji T. Yetman,Timothy J. Bradley,Steven D. Colan,Gail D. Pearson,E. Seda Selamet Tierney,Jami C. Levine,Andrew M. Atz,D. Woodrow Benson,Alan C. Braverman,Shan Chen,Julie De Backer,Bruce D. Gelb,Paul Grossfeld,Gloria L. Klein,Wyman W. Lai,Aimee Liou,Bart Loeys,Larry W Markham,Aaron K Olson,Stephen M. Paridon,Victoria L. Pemberton,Mary Ella M Pierpont,Reed E. Pyeritz,Elizabeth Radojewski,Mary J. Roman,Angela M. Sharkey,Mario Stylianou,Stephanie Burns Wechsler,Luciana T. Young,Lynn Mahony +32 more
TL;DR: Among children and young adults with Marfan's syndrome who were randomly assigned to losartan or atenolol, it was found that there was no significant difference in the rate of aortic-root dilatation between the two treatment groups over a 3-year period.