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GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.
Morris CA, Mervis CB, Hobart HH, Gregg RG, Bertrand J, Ensing GJ, Sommer A, Moore CA, Hopkin RJ, Spallone PA, Keating MT, Osborne L, Kimberley KW, Stock AD. Morris CA, et al. Among authors: hopkin rj. Am J Med Genet A. 2003 Nov 15;123A(1):45-59. doi: 10.1002/ajmg.a.20496. Am J Med Genet A. 2003. PMID: 14556246
Long-term survival in a patient with del(18)(q12.2q21.1).
Tinkle BT, Christianson CA, Schorry EK, Webb T, Hopkin RJ. Tinkle BT, et al. Among authors: hopkin rj. Am J Med Genet A. 2003 May 15;119A(1):66-70. doi: 10.1002/ajmg.a.10217. Am J Med Genet A. 2003. PMID: 12707962
New insights into the phenotypes of 6q deletions.
Hopkin RJ, Schorry E, Bofinger M, Milatovich A, Stern HJ, Jayne C, Saal HM. Hopkin RJ, et al. Am J Med Genet. 1997 Jun 27;70(4):377-86. Am J Med Genet. 1997. PMID: 9182778 Review.
199 results