Simeonov E - Search Results

1

2q31.1 microdeletion syndrome: redefining the associated clinical phenotype.

Dimitrov B, Balikova I, de Ravel T, Van Esch H, De Smedt M, Baten E, Vermeesch JR, Bradinova I, Simeonov E, Devriendt K, Fryns JP, Debeer P. Dimitrov B, et al. Among authors: simeonov e. J Med Genet. 2011 Feb;48(2):98-104. doi: 10.1136/jmg.2010.079491. Epub 2010 Nov 10. J Med Genet. 2011. PMID: 21068127

2

Acrofacial dysostosis type Rodríguez.

Dimitrov B, Balikova I, Jekova N, Vakrilova L, Fryns JP, Simeonov E. Dimitrov B, et al. Among authors: simeonov e. Am J Med Genet A. 2005 May 15;135(1):81-5. doi: 10.1002/ajmg.a.30673. Am J Med Genet A. 2005. PMID: 15793832 Review.

3

Mesomelic form of chondrodysplasia and congenital glaucoma associated with de novo translocation (13;18)(q14;q23).

Dimitrov B, Devriendt K, Maas NM, Vermeesch JR, Zahariev D, Avdjieva D, Popova A, Fryns JP, Simeonov E. Dimitrov B, et al. Among authors: simeonov e. Genet Couns. 2004;15(2):191-7. Genet Couns. 2004. PMID: 15287419 Review.

4

Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1.

Zeevaert R, Foulquier F, Dimitrov B, Reynders E, Van Damme-Lombaerts R, Simeonov E, Annaert W, Matthijs G, Jaeken J. Zeevaert R, et al. Among authors: simeonov e. Hum Mol Genet. 2009 Feb 1;18(3):517-24. doi: 10.1093/hmg/ddn379. Epub 2008 Nov 13. Hum Mol Genet. 2009. PMID: 19008299

5

The acrofacial dysostoses--a wide spectrum of overlapping phenotypes.

Dimitrov B, Balikova I, Bradinova I, Zahariev D, Popova A, Simeonov E, De Smet L, Devriendt K, Fryns JP. Dimitrov B, et al. Among authors: simeonov e. Genet Couns. 2005;16(2):181-6. Genet Couns. 2005. PMID: 16080300 No abstract available.

6

Hypertrichosis in patients with SURF1 mutations.

Ostergaard E, Bradinova I, Ravn SH, Hansen FJ, Simeonov E, Christensen E, Wibrand F, Schwartz M. Ostergaard E, et al. Among authors: simeonov e. Am J Med Genet A. 2005 Nov 1;138(4):384-8. doi: 10.1002/ajmg.a.30972. Am J Med Genet A. 2005. PMID: 16222681

7

Mental retardation in childhood: clinical and diagnostic profile in 100 children.

Bradinova I, Shopova S, Simeonov E. Bradinova I, et al. Among authors: simeonov e. Genet Couns. 2005;16(3):239-48. Genet Couns. 2005. PMID: 16259321 Review.

8

Mitochondrial DNA mutations in two bulgarian children with autistic spectrum disorders.

Avdjieva-Tzavella D, Mihailova S, Lukanov C, Naumova E, Simeonov E, Tincheva R, Toncheva D. Avdjieva-Tzavella D, et al. Among authors: simeonov e. Balkan J Med Genet. 2012 Dec;15(2):47-54. doi: 10.2478/bjmg-2013-0006. Balkan J Med Genet. 2012. PMID: 24052731 Free PMC article.

9

Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6.

Metcalfe K, Simeonov E, Beckett W, Donnai D, Tassabehji M. Metcalfe K, et al. Among authors: simeonov e. Clin Dysmorphol. 2005 Apr;14(2):61-65. Clin Dysmorphol. 2005. PMID: 15770126

10

Chromosomal microarray analysis of Bulgarian patients with epilepsy and intellectual disability.

Peycheva V, Kamenarova K, Ivanova N, Stamatov D, Avdjieva-Tzavella D, Alexandrova I, Zhelyazkova S, Pacheva I, Dimova P, Ivanov I, Litvinenko I, Bozhinova V, Tournev I, Simeonov E, Mitev V, Jordanova A, Kaneva R. Peycheva V, et al. Among authors: simeonov e. Gene. 2018 Aug 15;667:45-55. doi: 10.1016/j.gene.2018.05.015. Epub 2018 May 9. Gene. 2018. PMID: 29753047

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