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Next-generation sequencing identifies rare variants associated with Noonan syndrome.
Chen PC, Yin J, Yu HW, Yuan T, Fernandez M, Yung CK, Trinh QM, Peltekova VD, Reid JG, Tworog-Dube E, Morgan MB, Muzny DM, Stein L, McPherson JD, Roberts AE, Gibbs RA, Neel BG, Kucherlapati R. Chen PC, et al. Among authors: roberts ae. Proc Natl Acad Sci U S A. 2014 Aug 5;111(31):11473-8. doi: 10.1073/pnas.1324128111. Epub 2014 Jul 21. Proc Natl Acad Sci U S A. 2014. PMID: 25049390 Free PMC article.
Germline gain-of-function mutations in SOS1 cause Noonan syndrome.
Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, Li L, Yassin Y, Tamburino AM, Neel BG, Kucherlapati RS. Roberts AE, et al. Nat Genet. 2007 Jan;39(1):70-4. doi: 10.1038/ng1926. Epub 2006 Dec 3. Nat Genet. 2007. PMID: 17143285
Shared genetic causes of cardiac hypertrophy in children and adults.
Morita H, Rehm HL, Menesses A, McDonough B, Roberts AE, Kucherlapati R, Towbin JA, Seidman JG, Seidman CE. Morita H, et al. Among authors: roberts ae. N Engl J Med. 2008 May 1;358(18):1899-908. doi: 10.1056/NEJMoa075463. Epub 2008 Apr 9. N Engl J Med. 2008. PMID: 18403758 Free PMC article.
Genotype differences in cognitive functioning in Noonan syndrome.
Pierpont EI, Pierpont ME, Mendelsohn NJ, Roberts AE, Tworog-Dube E, Seidenberg MS. Pierpont EI, et al. Among authors: roberts ae. Genes Brain Behav. 2009 Apr;8(3):275-82. doi: 10.1111/j.1601-183X.2008.00469.x. Epub 2008 Dec 11. Genes Brain Behav. 2009. PMID: 19077116 Free PMC article.
A suggested role for mitochondria in Noonan syndrome.
Lee I, Pecinova A, Pecina P, Neel BG, Araki T, Kucherlapati R, Roberts AE, Hüttemann M. Lee I, et al. Among authors: roberts ae. Biochim Biophys Acta. 2010 Feb;1802(2):275-83. doi: 10.1016/j.bbadis.2009.10.005. Epub 2009 Oct 14. Biochim Biophys Acta. 2010. PMID: 19835954 Free PMC article.
A restricted spectrum of NRAS mutations causes Noonan syndrome.
Cirstea IC, Kutsche K, Dvorsky R, Gremer L, Carta C, Horn D, Roberts AE, Lepri F, Merbitz-Zahradnik T, König R, Kratz CP, Pantaleoni F, Dentici ML, Joshi VA, Kucherlapati RS, Mazzanti L, Mundlos S, Patton MA, Silengo MC, Rossi C, Zampino G, Digilio C, Stuppia L, Seemanova E, Pennacchio LA, Gelb BD, Dallapiccola B, Wittinghofer A, Ahmadian MR, Tartaglia M, Zenker M. Cirstea IC, et al. Among authors: roberts ae. Nat Genet. 2010 Jan;42(1):27-9. doi: 10.1038/ng.497. Epub 2009 Dec 6. Nat Genet. 2010. PMID: 19966803 Free PMC article.
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.
Rauen KA, Schoyer L, McCormick F, Lin AE, Allanson JE, Stevenson DA, Gripp KW, Neri G, Carey JC, Legius E, Tartaglia M, Schubbert S, Roberts AE, Gelb BD, Shannon K, Gutmann DH, McMahon M, Guerra C, Fagin JA, Yu B, Aoki Y, Neel BG, Balmain A, Drake RR, Nolan GP, Zenker M, Bollag G, Sebolt-Leopold J, Gibbs JB, Silva AJ, Patton EE, Viskochil DH, Kieran MW, Korf BR, Hagerman RJ, Packer RJ, Melese T. Rauen KA, et al. Among authors: roberts ae. Am J Med Genet A. 2010 Jan;152A(1):4-24. doi: 10.1002/ajmg.a.33183. Am J Med Genet A. 2010. PMID: 20014119 Free PMC article.
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: roberts ae. 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.
202 results