Boyadjiev SA - Search Results

1

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, Jabs EW. Paznekas WA, et al. Among authors: boyadjiev sa. Am J Hum Genet. 2003 Feb;72(2):408-18. doi: 10.1086/346090. Epub 2002 Nov 27. Am J Hum Genet. 2003. PMID: 12457340 Free PMC article.

2

A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21.

Boyadjiev SA, Justice CM, Eyaid W, McKusick VA, Lachman RS, Chowdry AB, Jabak M, Zwaan J, Wilson AF, Jabs EW. Boyadjiev SA, et al. Hum Genet. 2003 Jul;113(1):1-9. doi: 10.1007/s00439-003-0932-6. Epub 2003 Apr 3. Hum Genet. 2003. PMID: 12677423

3

GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.

Paznekas WA, Karczeski B, Vermeer S, Lowry RB, Delatycki M, Laurence F, Koivisto PA, Van Maldergem L, Boyadjiev SA, Bodurtha JN, Jabs EW. Paznekas WA, et al. Among authors: boyadjiev sa. Hum Mutat. 2009 May;30(5):724-33. doi: 10.1002/humu.20958. Hum Mutat. 2009. PMID: 19338053 Review.

4

Physical map of the chromosome 6q22 region containing the oculodentodigital dysplasia locus: analysis of thirteen candidate genes and identification of novel ESTs and DNA polymorphisms.

Boyadjiev SA, Chowdry AB, Shapiro RE, Paznekas WA, Wandstrat AE, Choi JW, Kasch L, Zhang G, Wollnik B, Burgess CE, Schalling M, Lovett M, Jabs EW. Boyadjiev SA, et al. Cytogenet Genome Res. 2002;98(1):29-37. doi: 10.1159/000068535. Cytogenet Genome Res. 2002. PMID: 12584438

5

Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.

Glaser RL, Jiang W, Boyadjiev SA, Tran AK, Zachary AA, Van Maldergem L, Johnson D, Walsh S, Oldridge M, Wall SA, Wilkie AO, Jabs EW. Glaser RL, et al. Among authors: boyadjiev sa. Am J Hum Genet. 2000 Mar;66(3):768-77. doi: 10.1086/302831. Am J Hum Genet. 2000. PMID: 10712195 Free PMC article.

6

Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders.

Boyadjiev SA, Jabs EW. Boyadjiev SA, et al. Clin Genet. 2000 Apr;57(4):253-66. doi: 10.1034/j.1399-0004.2000.570403.x. Clin Genet. 2000. PMID: 10845565 Review.

7

Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23.

Boyadjiev SA, Jabs EW, LaBuda M, Jamal JE, Torbergsen T, Ptácek LJ 2nd, Rogers RC, Nyberg-Hansen R, Opjordsmoen S, Zeller CB, Stine OC, Stalker HJ, Zori RT, Shapiro RE. Boyadjiev SA, et al. Genomics. 1999 May 15;58(1):34-40. doi: 10.1006/geno.1999.5814. Genomics. 1999. PMID: 10331943

8

Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations.

Beaty TH, Hetmanski JB, Fallin MD, Park JW, Sull JW, McIntosh I, Liang KY, Vanderkolk CA, Redett RJ, Boyadjiev SA, Jabs EW, Chong SS, Cheah FS, Wu-Chou YH, Chen PK, Chiu YF, Yeow V, Ng IS, Cheng J, Huang S, Ye X, Wang H, Ingersoll R, Scott AF. Beaty TH, et al. Among authors: boyadjiev sa. Hum Genet. 2006 Nov;120(4):501-18. doi: 10.1007/s00439-006-0235-9. Epub 2006 Sep 5. Hum Genet. 2006. PMID: 16953426

9

A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.

Kovach MJ, Lin JP, Boyadjiev S, Campbell K, Mazzeo L, Herman K, Rimer LA, Frank W, Llewellyn B, Jabs EW, Gelber D, Kimonis VE. Kovach MJ, et al. Am J Hum Genet. 1999 Jun;64(6):1580-93. doi: 10.1086/302420. Am J Hum Genet. 1999. PMID: 10330345 Free PMC article.

10

Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.

Garbes L, Kim K, Rieß A, Hoyer-Kuhn H, Beleggia F, Bevot A, Kim MJ, Huh YH, Kweon HS, Savarirayan R, Amor D, Kakadia PM, Lindig T, Kagan KO, Becker J, Boyadjiev SA, Wollnik B, Semler O, Bohlander SK, Kim J, Netzer C. Garbes L, et al. Among authors: boyadjiev sa. Am J Hum Genet. 2015 Mar 5;96(3):432-9. doi: 10.1016/j.ajhg.2015.01.002. Epub 2015 Feb 12. Am J Hum Genet. 2015. PMID: 25683121 Free PMC article.

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