Stefanova M - Search Results

1

Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter.

Kirchhoff M, Bisgaard AM, Stoeva R, Dimitrov B, Gillessen-Kaesbach G, Fryns JP, Rose H, Grozdanova L, Ivanov I, Keymolen K, Fagerberg C, Tranebjaerg L, Skovby F, Stefanova M. Kirchhoff M, et al. Among authors: stefanova m. Am J Med Genet A. 2009 May;149A(5):894-905. doi: 10.1002/ajmg.a.32814. Am J Med Genet A. 2009. PMID: 19363806

2

Clinical and molecular-cytogenetic studies of cryptic chromosome aberrations in individuals with idiopathic mental retardation and multiple congenital malformations.

Stoeva RE, Grozdanova LI, Vermeesch JR, Kirchhoff M, Fryns JP, Ivanov IS, Patcheva IH, Dimitrov BI, Krastev TB, Linev AJ, Stefanova MT. Stoeva RE, et al. Among authors: stefanova mt. Folia Med (Plovdiv). 2008 Oct-Dec;50(4):55-62. Folia Med (Plovdiv). 2008. PMID: 19209531

3

A novel SOX9 nonsense mutation, q401x, in a case of campomelic dysplasia with XY sex reversal.

Stoeva R, Grozdanova L, Scherer G, Krasteva M, Bausch E, Krastev T, Linev A, Stefanova M. Stoeva R, et al. Among authors: stefanova m. Genet Couns. 2011;22(1):49-53. Genet Couns. 2011. PMID: 21614988

4

UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene.

Thunstrom S, Sodermark L, Ivarsson L, Samuelsson L, Stefanova M. Thunstrom S, et al. Among authors: stefanova m. Am J Med Genet A. 2015 Jan;167A(1):204-10. doi: 10.1002/ajmg.a.36800. Epub 2014 Oct 6. Am J Med Genet A. 2015. PMID: 25287747

5

Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.

Parenti I, Gervasini C, Pozojevic J, Wendt KS, Watrin E, Azzollini J, Braunholz D, Buiting K, Cereda A, Engels H, Garavelli L, Glazar R, Graffmann B, Larizza L, Lüdecke HJ, Mariani M, Masciadri M, Pié J, Ramos FJ, Russo S, Selicorni A, Stefanova M, Strom TM, Werner R, Wierzba J, Zampino G, Gillessen-Kaesbach G, Wieczorek D, Kaiser FJ. Parenti I, et al. Among authors: stefanova m. Clin Genet. 2016 May;89(5):564-73. doi: 10.1111/cge.12717. Epub 2016 Jan 25. Clin Genet. 2016. PMID: 26671848

6

A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype.

Stefanova M, Meinecke P, Gal A, Bolz H. Stefanova M, et al. Am J Med Genet A. 2005 Feb 1;132A(4):386-90. doi: 10.1002/ajmg.a.30484. Am J Med Genet A. 2005. PMID: 15654694

7

Zimmermann-Laband syndrome associated with a balanced reciprocal translocation t(3;8)(p21.2;q24.3) in mother and daughter: molecular cytogenetic characterization of the breakpoint regions.

Stefanova M, Atanassov D, Krastev T, Fuchs S, Kutsche K. Stefanova M, et al. Am J Med Genet A. 2003 Mar 15;117A(3):289-94. doi: 10.1002/ajmg.a.10174. Am J Med Genet A. 2003. PMID: 12599195

8

A clinical expression in structural chromosomal aberrations.

Valkova G, Krastev T, Stefanova M, Grozdanova L, Shishkova N, Maritchkov D. Valkova G, et al. Among authors: stefanova m. Folia Med (Plovdiv). 1995;37(4A Suppl):70. Folia Med (Plovdiv). 1995. PMID: 8655074 No abstract available.

9

Reproductive possibilities for balanced translocation (14) carriers in families with partial trisomy of proximal 14q.

Valkova G, Stefanova M. Valkova G, et al. Among authors: stefanova m. J Med Genet. 1993 Jan;30(1):73-5. doi: 10.1136/jmg.30.1.73. J Med Genet. 1993. PMID: 8423613 Free PMC article. Review.

10

Disruption of ERBB2IP is not associated with dystrophic epidermolysis bullosa in both father and son carrying a balanced 5;13 translocation.

Stefanova M, Zemke K, Dimitrov B, Has C, Kern JS, Bruckner-Tuderman L, Kutsche K. Stefanova M, et al. J Invest Dermatol. 2005 Oct;125(4):700-4. doi: 10.1111/j.0022-202X.2005.23875.x. J Invest Dermatol. 2005. PMID: 16185268 Free article.

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