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798 results

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Page 1
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.
Robertson SP, Jenkins ZA, Morgan T, Adès L, Aftimos S, Boute O, Fiskerstrand T, Garcia-Miñaur S, Grix A, Green A, Der Kaloustian V, Lewkonia R, McInnes B, van Haelst MM, Mancini G, Illés T, Mortier G, Newbury-Ecob R, Nicholson L, Scott CI, Ochman K, Brozek I, Shears DJ, Superti-Furga A, Suri M, Whiteford M, Wilkie AO, Krakow D. Robertson SP, et al. Among authors: nicholson l. Am J Med Genet A. 2006 Aug 15;140(16):1726-36. doi: 10.1002/ajmg.a.31322. Am J Med Genet A. 2006. PMID: 16835913
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
Gripp KW, Lin AE, Stabley DL, Nicholson L, Scott CI Jr, Doyle D, Aoki Y, Matsubara Y, Zackai EH, Lapunzina P, Gonzalez-Meneses A, Holbrook J, Agresta CA, Gonzalez IL, Sol-Church K. Gripp KW, et al. Among authors: nicholson l. Am J Med Genet A. 2006 Jan 1;140(1):1-7. doi: 10.1002/ajmg.a.31047. Am J Med Genet A. 2006. PMID: 16329078
Second case of bladder carcinoma in a patient with Costello syndrome.
Gripp KW, Scott CI Jr, Nicholson L, Figueroa TE. Gripp KW, et al. Among authors: nicholson l. Am J Med Genet. 2000 Jan 31;90(3):256-9. doi: 10.1002/(sici)1096-8628(20000131)90:3<256::aid-ajmg16>3.0.co;2-d. Am J Med Genet. 2000. PMID: 10678668 No abstract available.
Extending the spectrum of distal arthrogryposis.
Gripp KW, Scott CI Jr, Brockett BC, Nicholson L, Mackenzie WG. Gripp KW, et al. Among authors: nicholson l. Am J Med Genet. 1996 Nov 11;65(4):286-90. doi: 10.1002/(SICI)1096-8628(19961111)65:4<286::AID-AJMG8>3.0.CO;2-N. Am J Med Genet. 1996. PMID: 8923937
Lateral meningocele syndrome: three new patients and review of the literature.
Gripp KW, Scott CI Jr, Hughes HE, Wallerstein R, Nicholson L, States L, Bason LD, Kaplan P, Zderic SA, Duhaime AC, Miller F, Magnusson MR, Zackai EH. Gripp KW, et al. Among authors: nicholson l. Am J Med Genet. 1997 Jun 13;70(3):229-39. Am J Med Genet. 1997. PMID: 9188658 Review.
798 results