Pierpont ME - Search Results

1

Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome.

McNeill AM, Hudock RL, Foy AMH, Shanley R, Semrud-Clikeman M, Pierpont ME, Berry SA, Sommer K, Moertel CL, Pierpont EI. McNeill AM, et al. Among authors: pierpont me. Am J Med Genet A. 2019 Dec;179(12):2433-2446. doi: 10.1002/ajmg.a.61361. Epub 2019 Sep 30. Am J Med Genet A. 2019. PMID: 31566897

2

Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome.

Pierpont EI, Pierpont ME, Mendelsohn NJ, Roberts AE, Tworog-Dube E, Rauen KA, Seidenberg MS. Pierpont EI, et al. Among authors: pierpont me. Am J Med Genet A. 2010 Mar;152A(3):591-600. doi: 10.1002/ajmg.a.33268. Am J Med Genet A. 2010. PMID: 20186801 Free PMC article.

3

Variability in clinical and neuropsychological features of individuals with MAP2K1 mutations.

Pierpont EI, Semrud-Clikeman M, Pierpont ME. Pierpont EI, et al. Among authors: pierpont me. Am J Med Genet A. 2017 Feb;173(2):452-459. doi: 10.1002/ajmg.a.38044. Epub 2016 Nov 14. Am J Med Genet A. 2017. PMID: 27862862 Review.

4

Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1.

Pierpont EI, Hudock RL, Foy AM, Semrud-Clikeman M, Pierpont ME, Berry SA, Shanley R, Rubin N, Sommer K, Moertel CL. Pierpont EI, et al. Among authors: pierpont me. J Neurodev Disord. 2018 Jun 18;10(1):21. doi: 10.1186/s11689-018-9239-8. J Neurodev Disord. 2018. PMID: 29914349 Free PMC article.

5

The language phenotype of children and adolescents with Noonan syndrome.

Pierpont EI, Ellis Weismer S, Roberts AE, Tworog-Dube E, Pierpont ME, Mendelsohn NJ, Seidenberg MS. Pierpont EI, et al. Among authors: pierpont me. J Speech Lang Hear Res. 2010 Aug;53(4):917-32. doi: 10.1044/1092-4388(2009/09-0046). Epub 2010 Jun 11. J Speech Lang Hear Res. 2010. PMID: 20543023 Free PMC article.

6

A novel microdeletion/microduplication syndrome of 19p13.13.

Dolan M, Mendelsohn NJ, Pierpont ME, Schimmenti LA, Berry SA, Hirsch B. Dolan M, et al. Among authors: pierpont me. Genet Med. 2010 Aug;12(8):503-11. doi: 10.1097/GIM.0b013e3181e59291. Genet Med. 2010. PMID: 20613546 Free article.

7

Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report.

Westenfield K, Sarafoglou K, Speltz LC, Pierpont EI, Steyermark J, Nascene D, Bower M, Pierpont ME. Westenfield K, et al. Among authors: pierpont ei, pierpont me. BMC Med Genet. 2018 Jun 15;19(1):100. doi: 10.1186/s12881-018-0617-6. BMC Med Genet. 2018. PMID: 29907092 Free PMC article.

8

Cardiovascular disease in Noonan syndrome.

Pierpont ME, Digilio MC. Pierpont ME, et al. Curr Opin Pediatr. 2018 Oct;30(5):601-608. doi: 10.1097/MOP.0000000000000669. Curr Opin Pediatr. 2018. PMID: 30024444 Review.

9

Cardiac transplantation in children with Noonan syndrome.

McCallen LM, Ameduri RK, Denfield SW, Dodd DA, Everitt MD, Johnson JN, Lee TM, Lin AE, Lohr JL, May LJ, Pierpont ME, Stevenson DA, Chatfield KC. McCallen LM, et al. Among authors: pierpont me. Pediatr Transplant. 2019 Sep;23(6):e13535. doi: 10.1111/petr.13535. Epub 2019 Jul 1. Pediatr Transplant. 2019. PMID: 31259454

10

Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation.

Pierpont ME, Richards M, Engel WK, Mendelsohn NJ, Summers CG. Pierpont ME, et al. Am J Med Genet A. 2017 May;173(5):1342-1347. doi: 10.1002/ajmg.a.38110. Epub 2017 Mar 23. Am J Med Genet A. 2017. PMID: 28337834

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