Boyadjiev S - Search Results

1

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. Among authors: boyadjiev s. Am J Hum Genet. 1999 Jun;64(6):1580-93. doi: 10.1086/302420. Am J Hum Genet. 1999. PMID: 10330345 Free PMC article.

2

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.

3

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

4

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.

5

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. 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.

6

Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis.

Greenwood J, Flodman P, Osann K, Boyadjiev SA, Kimonis V. Greenwood J, et al. Genet Med. 2014 Apr;16(4):302-10. doi: 10.1038/gim.2013.134. Epub 2013 Sep 26. Genet Med. 2014. PMID: 24071792 Free PMC article.

7

ALX4 gain-of-function mutations in nonsyndromic craniosynostosis.

Yagnik G, Ghuman A, Kim S, Stevens CG, Kimonis V, Stoler J, Sanchez-Lara PA, Bernstein JA, Naydenov C, Drissi H, Cunningham ML, Kim J, Boyadjiev SA. Yagnik G, et al. Among authors: boyadjiev sa. Hum Mutat. 2012 Dec;33(12):1626-9. doi: 10.1002/humu.22166. Epub 2012 Aug 13. Hum Mutat. 2012. PMID: 22829454 Free PMC article.

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

Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome.

Flanagan N, Boyadjiev SA, Harper J, Kyne L, Earley M, Watson R, Jabs EW, Geraghty MT. Flanagan N, et al. Among authors: boyadjiev sa. J Med Genet. 1998 Sep;35(9):763-6. doi: 10.1136/jmg.35.9.763. J Med Genet. 1998. PMID: 9733036 Free PMC article.

10

Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene.

Pratt VM, Boyadjiev S, Dlouhy SR, Silver K, Der Kaloustian VM, Hodes ME. Pratt VM, et al. Among authors: boyadjiev s. Am J Med Genet. 1995 Feb 13;55(4):402-4. doi: 10.1002/ajmg.1320550403. Am J Med Genet. 1995. PMID: 7539212

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