MeSH Review:
Noonan Syndrome
Burch,
Petrucci,
Kavamura,
Chang,
Jeffery,
Burgt,
Holder-Espinasse,
van der Burgt,
Mohi,
Mehler,
Sorcini,
Schranz,
Zampino,
Kucherlapati,
Schoch,
Kalidas,
Palleschi,
Maslen,
Uhlén,
Neel,
Devisme,
Gérard-Blanluet,
Peres,
Cordeddu,
Kaemmerer,
Levaillant,
Kreuder,
Tanaka,
Pao,
Tartaglia,
Morris,
Yoshihama,
Cordeddu,
Manouvrier-Hanu,
Kalidas,
Yang,
Emanuel,
Gelb,
van der Burgt,
Gelb,
Stella,
Gelb,
Gelb,
Kenmochi,
Crosby,
Zito,
Estrada,
Tartaglia,
Bocchinfuso,
Shaw,
Crosby,
Tartaglia,
Kremer,
Foa,
Kutok,
Bronson,
Valat-Rigot,
Patton,
Hager,
Epstein,
Brunoni,
Gelb,
Cavé,
Bennett,
Ion,
Gilliland,
Zampino,
Sorcini,
Jeffery,
Tartaglia,
Williams,
Araki,
Goldberg,
Brunner,
Ismat,
Weismann,
Higa,
Ehrlich,
Patton,
Flex,
Alchorne,
Martinelli,
- Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome. Tartaglia, M., Cordeddu, V., Chang, H., Shaw, A., Kalidas, K., Crosby, A., Patton, M.A., Sorcini, M., van der Burgt, I., Jeffery, S., Gelb, B.D. Am. J. Hum. Genet. (2004)
- NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. De Luca, A., Bottillo, I., Sarkozy, A., Carta, C., Neri, C., Bellacchio, E., Schirinzi, A., Conti, E., Zampino, G., Battaglia, A., Majore, S., Rinaldi, M.M., Carella, M., Marino, B., Pizzuti, A., Digilio, M.C., Tartaglia, M., Dallapiccola, B. Am. J. Hum. Genet. (2005)
- Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease. Tartaglia, M., Martinelli, S., Stella, L., Bocchinfuso, G., Flex, E., Cordeddu, V., Zampino, G., Burgt, I., Palleschi, A., Petrucci, T.C., Sorcini, M., Schoch, C., Foa, R., Emanuel, P.D., Gelb, B.D. Am. J. Hum. Genet. (2006)
- Charcot-Marie-Tooth disease and Noonan syndrome with giant proximal nerve hypertrophy. Silburn, P.A., Nicholson, G.A., Teh, B.T., Blair, I.P., Pollard, J.D., Nolan, P.J., Larsson, C., Boyle, R.S. Neurology (1998)
- Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association. Bahuau, M., Flintoff, W., Assouline, B., Lyonnet, S., Le Merrer, M., Prieur, M., Guilloud-Bataille, M., Feingold, N., Munnich, A., Vidaud, M., Vidaud, D. Am. J. Med. Genet. (1996)
- Swyer-James syndrome associated with Noonan syndrome: report of a case. Lin, Y.M., Huang, W.L., Hwang, J.J., Ko, Y.L., Lien, W.P. J. Formos. Med. Assoc. (1995)
- Germline KRAS mutations cause Noonan syndrome. Schubbert, S., Zenker, M., Rowe, S.L., Böll, S., Klein, C., Bollag, G., van der Burgt, I., Musante, L., Kalscheuer, V., Wehner, L.E., Nguyen, H., West, B., Zhang, K.Y., Sistermans, E., Rauch, A., Niemeyer, C.M., Shannon, K., Kratz, C.P. Nat. Genet. (2006)
- Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Tartaglia, M., Mehler, E.L., Goldberg, R., Zampino, G., Brunner, H.G., Kremer, H., van der Burgt, I., Crosby, A.H., Ion, A., Jeffery, S., Kalidas, K., Patton, M.A., Kucherlapati, R.S., Gelb, B.D. Nat. Genet. (2001)
- Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation. Araki, T., Mohi, M.G., Ismat, F.A., Bronson, R.T., Williams, I.R., Kutok, J.L., Yang, W., Pao, L.I., Gilliland, D.G., Epstein, J.A., Neel, B.G. Nat. Med. (2004)
- Primidone teratogenicity of Noonan syndrome. Burn, J., Baraitser, M. J. Pediatr. (1982)
- PTPN11 mutations play a minor role in isolated congenital heart disease. Weismann, C.G., Hager, A., Kaemmerer, H., Maslen, C.L., Morris, C.D., Schranz, D., Kreuder, J., Gelb, B.D. Am. J. Med. Genet. A (2005)
- Gain-of-function/Noonan syndrome SHP-2/Ptpn11 mutants enhance calcium oscillations and impair NFAT signaling. Uhlén, P., Burch, P.M., Zito, C.I., Estrada, M., Ehrlich, B.E., Bennett, A.M. Proc. Natl. Acad. Sci. U.S.A. (2006)
- PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. Kosaki, K., Suzuki, T., Muroya, K., Hasegawa, T., Sato, S., Matsuo, N., Kosaki, R., Nagai, T., Hasegawa, Y., Ogata, T. J. Clin. Endocrinol. Metab. (2002)
- Classical Noonan syndrome is not associated with deletions of 22q11. Robin, N.H., Sellinger, B., McDonald-McGinn, D., Zackai, E.H., Emanuel, B.S., Driscoll, D.A. Am. J. Med. Genet. (1995)
- The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca, M., Gelb, B.D., Tartaglia, M., Loh, M.L. Blood (2005)
- Myopathy with muscle spindle excess: A new congenital neuromuscular syndrome? Selcen, D., Kupsky, W.J., Benjamins, D., Nigro, M.A. Muscle Nerve (2001)
- Noonan syndrome: structural abnormalities of the mitral valve causing subaortic obstruction. Marino, B., Gagliardi, M.G., Digilio, M.C., Polletta, B., Grazioli, S., Agostino, D., Giannotti, A., Dallapiccola, B. Eur. J. Pediatr. (1995)
- Proximal left coronary artery occlusion in a 15-year-old boy with noonan syndrome and hypertrophic cardiomyopathy. Delhaas, T., Mühler, E.G. Pediatric cardiology. (2003)
- Myocardial disarray in Noonan syndrome. Burch, M., Mann, J.M., Sharland, M., Shinebourne, E.A., Patton, M.A., McKenna, W.J. British heart journal. (1992)
- Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. Loh, M.L., Vattikuti, S., Schubbert, S., Reynolds, M.G., Carlson, E., Lieuw, K.H., Cheng, J.W., Lee, C.M., Stokoe, D., Bonifas, J.M., Curtiss, N.P., Gotlib, J., Meshinchi, S., Le Beau, M.M., Emanuel, P.D., Shannon, K.M. Blood (2004)
- Chromosomal localization, genomic characterization, and mapping to the Noonan syndrome critical region of the human Deltex (DTX1) gene. Lee, L., Dowhanick-Morrissette, J., Katz, A., Jukofsky, L., Krantz, I.D. Hum. Genet. (2000)
- Noonan syndrome mutation Q79R in Shp2 increases proliferation of valve primordia mesenchymal cells via extracellular signal-regulated kinase 1/2 signaling. Krenz, M., Yutzey, K.E., Robbins, J. Circ. Res. (2005)
- The human ribosomal protein L6 gene in a critical region for Noonan syndrome. Kenmochi, N., Yoshihama, M., Higa, S., Tanaka, T. J. Hum. Genet. (2000)
- Clinical evaluation of recombinant human growth hormone in Noonan syndrome. Ogawa, M., Moriya, N., Ikeda, H., Tanae, A., Tanaka, T., Ohyama, K., Mori, O., Yazawa, T., Fujita, K., Seino, Y., Kubo, T., Tanaka, H., Nishi, Y., Yoshimoto, M. Endocr. J. (2004)
- Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Roberts, A.E., Araki, T., Swanson, K.D., Montgomery, K.T., Schiripo, T.A., Joshi, V.A., Li, L., Yassin, Y., Tamburino, A.M., Neel, B.G., Kucherlapati, R.S. Nat. Genet. (2007)
- CFC index for the diagnosis of cardiofaciocutaneous syndrome. Kavamura, M.I., Peres, C.A., Alchorne, M.M., Brunoni, D. Am. J. Med. Genet. (2002)
- Prenatal phenotypic overlap of Costello syndrome and severe Noonan syndrome by tri-dimensional ultrasonography. Levaillant, J.M., Gérard-Blanluet, M., Holder-Espinasse, M., Valat-Rigot, A.S., Devisme, L., Cavé, H., Manouvrier-Hanu, S. Prenat. Diagn. (2006)
- Germ-line and somatic PTPN11 mutations in human disease. Tartaglia, M., Gelb, B.D. European journal of medical genetics. (2005)