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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: gelb bd. 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 mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.
Kratz CP, Niemeyer CM, Castleberry RP, Cetin M, Bergsträsser E, Emanuel PD, Hasle H, Kardos G, Klein C, Kojima S, Stary J, Trebo M, Zecca M, Gelb BD, Tartaglia M, Loh ML. Kratz CP, et al. Among authors: gelb bd. Blood. 2005 Sep 15;106(6):2183-5. doi: 10.1182/blood-2005-02-0531. Epub 2005 May 31. Blood. 2005. PMID: 15928039 Free PMC article.
Germ-line and somatic PTPN11 mutations in human disease.
Tartaglia M, Gelb BD. Tartaglia M, et al. Among authors: gelb bd. Eur J Med Genet. 2005 Apr-Jun;48(2):81-96. doi: 10.1016/j.ejmg.2005.03.001. Epub 2005 Apr 2. Eur J Med Genet. 2005. PMID: 16053901 Review.
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
Zampino G, Pantaleoni F, Carta C, Cobellis G, Vasta I, Neri C, Pogna EA, De Feo E, Delogu A, Sarkozy A, Atzeri F, Selicorni A, Rauen KA, Cytrynbaum CS, Weksberg R, Dallapiccola B, Ballabio A, Gelb BD, Neri G, Tartaglia M. Zampino G, et al. Among authors: gelb bd. Hum Mutat. 2007 Mar;28(3):265-72. doi: 10.1002/humu.20431. Hum Mutat. 2007. PMID: 17054105
330 results