Bejjani B - Search Results

1

Clinical findings and linkage studies in familial tuberous sclerosis.

Short MP, Haines J, Jewell A, Bejjani B, Yang CH, Wyandt H, MacFarlane H, Andermann E, Kwiatkowski D, Amos J. Short MP, et al. Among authors: bejjani b. Ann N Y Acad Sci. 1991;615:380-1. doi: 10.1111/j.1749-6632.1991.tb37788.x. Ann N Y Acad Sci. 1991. PMID: 1645505 No abstract available.

2

Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity.

Haines JL, Short MP, Kwiatkowski DJ, Jewell A, Andermann E, Bejjani B, Yang CH, Gusella JF, Amos JA. Haines JL, et al. Among authors: bejjani b. Am J Hum Genet. 1991 Oct;49(4):764-72. Am J Hum Genet. 1991. PMID: 1897523 Free PMC article.

3

The value of deletion analysis for carrier detection in Duchenne muscular dystrophy (DMD).

Bejjani B, Finn P, Milunsky A, Amos J. Bejjani B, et al. Clin Genet. 1991 Apr;39(4):245-52. doi: 10.1111/j.1399-0004.1991.tb03022.x. Clin Genet. 1991. PMID: 2070545

4

Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.

Bejjani BA, Lewis RA, Tomey KF, Anderson KL, Dueker DK, Jabak M, Astle WF, Otterud B, Leppert M, Lupski JR. Bejjani BA, et al. Am J Hum Genet. 1998 Feb;62(2):325-33. doi: 10.1086/301725. Am J Hum Genet. 1998. PMID: 9463332 Free PMC article.

5

Pure trisomy 10p involving an isochromosome 10p.

Berend SA, Shaffer LG, Bejjani BA. Berend SA, et al. Among authors: bejjani ba. Clin Genet. 1999 May;55(5):367-71. doi: 10.1034/j.1399-0004.1999.550512.x. Clin Genet. 1999. PMID: 10422809

6

Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.

Bejjani BA, Stockton DW, Lewis RA, Tomey KF, Dueker DK, Jabak M, Astle WF, Lupski JR. Bejjani BA, et al. Hum Mol Genet. 2000 Feb 12;9(3):367-74. doi: 10.1093/hmg/9.3.367. Hum Mol Genet. 2000. PMID: 10655546

7

Developing a sustainable process to provide quality control materials for genetic testing.

Chen B, O' Connell CD, Boone DJ, Amos JA, Beck JC, Chan MM, Farkas DH, Lebo RV, Richards CS, Roa BB, Silverman LM, Barton DE, Bejjani BA, Belloni DR, Bernacki SH, Caggana M, Charache P, Dequeker E, Ferreira-Gonzalez A, Friedman KJ, Greene CL, Grody WW, Highsmith WE Jr, Hinkel CS, Kalman LV, Lubin IM, Lyon E, Payne DA, Pratt VM, Rohlfs E, Rundell CA, Schneider E, Willey AM, Williams LO, Willey JC, Winn-Deen ES, Wolff DJ. Chen B, et al. Among authors: bejjani ba. Genet Med. 2005 Oct;7(8):534-49. doi: 10.1097/01.gim.0000183043.94406.81. Genet Med. 2005. PMID: 16247292 Free article.

8

Substitution at IL1RN and deletion at SLC4A11 segregating with phenotype in familial keratoconus.

Nowak DM, Karolak JA, Kubiak J, Gut M, Pitarque JA, Molinari A, Bejjani BA, Gajecka M. Nowak DM, et al. Among authors: bejjani ba. Invest Ophthalmol Vis Sci. 2013 Mar 1;54(3):2207-15. doi: 10.1167/iovs.13-11592. Invest Ophthalmol Vis Sci. 2013. PMID: 23462747

9

Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.

Yu W, Ballif BC, Kashork CD, Heilstedt HA, Howard LA, Cai WW, White LD, Liu W, Beaudet AL, Bejjani BA, Shaw CA, Shaffer LG. Yu W, et al. Hum Mol Genet. 2003 Sep 1;12(17):2145-52. doi: 10.1093/hmg/ddg230. Epub 2003 Jul 15. Hum Mol Genet. 2003. PMID: 12915473

10

Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2).

Lalani SR, Sahoo T, Sanders ME, Peters SU, Bejjani BA. Lalani SR, et al. BMC Med Genet. 2006 Feb 10;7:8. doi: 10.1186/1471-2350-7-8. BMC Med Genet. 2006. PMID: 16472378 Free PMC article.

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