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Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism.
Franek KJ, Butler J, Johnson J, Simensen R, Friez MJ, Bartel F, Moss T, DuPont B, Berry K, Bauman M, Skinner C, Stevenson RE, Schwartz CE. Franek KJ, et al. Among authors: dupont b. Am J Med Genet A. 2011 May;155A(5):1109-14. doi: 10.1002/ajmg.a.33833. Epub 2011 Apr 11. Am J Med Genet A. 2011. PMID: 21484992
AGTR2 mutations in X-linked mental retardation.
Vervoort VS, Beachem MA, Edwards PS, Ladd S, Miller KE, de Mollerat X, Clarkson K, DuPont B, Schwartz CE, Stevenson RE, Boyd E, Srivastava AK. Vervoort VS, et al. Among authors: dupont b. Science. 2002 Jun 28;296(5577):2401-3. doi: 10.1126/science.1072191. Science. 2002. PMID: 12089445
Prevalence of aneuploidies in South Carolina in the 1990s.
Collins JS, Olson RL, DuPont BR, Wolff DJ, Best RG, Stevenson RE. Collins JS, et al. Genet Med. 2002 May-Jun;4(3):131-5. doi: 10.1097/00125817-200205000-00006. Genet Med. 2002. PMID: 12180147 Free article.
The Hunter-McAlpine syndrome results from duplication 5q35-qter.
Hunter AG, Dupont B, McLaughlin M, Hinton L, Baker E, Adès L, Haan E, Schwartz CE. Hunter AG, et al. Among authors: dupont b. Clin Genet. 2005 Jan;67(1):53-60. doi: 10.1111/j.1399-0004.2005.00378.x. Clin Genet. 2005. PMID: 15617549
Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome.
Vieira GH, Rodriguez JD, Boy R, de Paiva IS, DuPont BR, Moretti-Ferreira D, Srivastava AK. Vieira GH, et al. Am J Med Genet A. 2011 May;155A(5):988-92. doi: 10.1002/ajmg.a.33960. Epub 2011 Apr 7. Am J Med Genet A. 2011. PMID: 21480478 No abstract available.
850 results