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Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.
Breuning MH, Dauwerse HG, Fugazza G, Saris JJ, Spruit L, Wijnen H, Tommerup N, van der Hagen CB, Imaizumi K, Kuroki Y, van den Boogaard MJ, de Pater JM, Mariman EC, Hamel BC, Himmelbauer H, Frischauf AM, Stallings R, Beverstock GC, van Ommen GJ, Hennekam RC. Breuning MH, et al. Among authors: van den boogaard mj, van ommen gj, van der hagen cb. Am J Hum Genet. 1993 Feb;52(2):249-54. Am J Hum Genet. 1993. PMID: 8430691 Free PMC article.
A cephalometric study in Rubinstein-Taybi syndrome.
Hennekam RC, Van den Boogaard MJ, Van Doorne JM. Hennekam RC, et al. Among authors: van den boogaard mj, van doorne jm. J Craniofac Genet Dev Biol. 1991 Jan-Mar;11(1):33-40. J Craniofac Genet Dev Biol. 1991. PMID: 2061404
Rubinstein-Taybi syndrome in The Netherlands.
Hennekam RC, Van Den Boogaard MJ, Sibbles BJ, Van Spijker HG. Hennekam RC, et al. Among authors: van spijker hg, van den boogaard mj. Am J Med Genet Suppl. 1990;6:17-29. doi: 10.1002/ajmg.1320370604. Am J Med Genet Suppl. 1990. PMID: 2118773
The Peters'-Plus syndrome: description of 16 patients and review of the literature.
Hennekam RC, Van Schooneveld MJ, Ardinger HH, Van Den Boogaard MJ, Friedburg D, Rudnik-Schoneborn S, Seguin JH, Weatherstone KB, Wittebol-Post D, Meinecke P. Hennekam RC, et al. Among authors: van schooneveld mj, van den boogaard mj. Clin Dysmorphol. 1993 Oct;2(4):283-300. Clin Dysmorphol. 1993. PMID: 7508316 Review.
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13.
Gong Y, Vikkula M, Boon L, Liu J, Beighton P, Ramesar R, Peltonen L, Somer H, Hirose T, Dallapiccola B, De Paepe A, Swoboda W, Zabel B, Superti-Furga A, Steinmann B, Brunner HG, Jans A, Boles RG, Adkins W, van den Boogaard MJ, Olsen BR, Warman ML. Gong Y, et al. Among authors: van den boogaard mj. Am J Hum Genet. 1996 Jul;59(1):146-51. Am J Hum Genet. 1996. PMID: 8659519 Free PMC article.
81 results