Dimitrov B - Search Results

1

The C20orf133 gene is disrupted in a patient with Kabuki syndrome.

Maas NM, Van de Putte T, Melotte C, Francis A, Schrander-Stumpel CT, Sanlaville D, Genevieve D, Lyonnet S, Dimitrov B, Devriendt K, Fryns JP, Vermeesch JR. Maas NM, et al. Among authors: dimitrov b. J Med Genet. 2007 Sep;44(9):562-9. doi: 10.1136/jmg.2007.049510. Epub 2007 Jun 23. J Med Genet. 2007. PMID: 17586838 Free PMC article.

2

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. Genet Couns. 2004;15(2):191-7. Genet Couns. 2004. PMID: 15287419 Review.

3

Acrofacial dysostosis type Rodríguez.

Dimitrov B, Balikova I, Jekova N, Vakrilova L, Fryns JP, Simeonov E. Dimitrov B, et al. 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.

4

Clinical and mutational spectrum of Mowat-Wilson syndrome.

Zweier C, Thiel CT, Dufke A, Crow YJ, Meinecke P, Suri M, Ala-Mello S, Beemer F, Bernasconi S, Bianchi P, Bier A, Devriendt K, Dimitrov B, Firth H, Gallagher RC, Garavelli L, Gillessen-Kaesbach G, Hudgins L, Kääriäinen H, Karstens S, Krantz I, Mannhardt A, Medne L, Mücke J, Kibaek M, Krogh LN, Peippo M, Rittinger O, Schulz S, Schelley SL, Temple IK, Dennis NR, Van der Knaap MS, Wheeler P, Yerushalmi B, Zenker M, Seidel H, Lachmeijer A, Prescott T, Kraus C, Lowry RB, Rauch A. Zweier C, et al. Among authors: dimitrov b. Eur J Med Genet. 2005 Apr-Jun;48(2):97-111. doi: 10.1016/j.ejmg.2005.01.003. Epub 2005 Feb 25. Eur J Med Genet. 2005. PMID: 16053902

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. Genet Couns. 2005;16(2):181-6. Genet Couns. 2005. PMID: 16080300 No abstract available.

6

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: dimitrov bi. Folia Med (Plovdiv). 2008 Oct-Dec;50(4):55-62. Folia Med (Plovdiv). 2008. PMID: 19209531

7

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: dimitrov b. 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

8

Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements.

Dimitrov BI, de Ravel T, Van Driessche J, de Die-Smulders C, Toutain A, Vermeesch JR, Fryns JP, Devriendt K, Debeer P. Dimitrov BI, et al. J Med Genet. 2010 Feb;47(2):103-11. doi: 10.1136/jmg.2008.065888. Epub 2009 Jul 6. J Med Genet. 2010. PMID: 19584065

9

Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani--Lenz-like non-syndromic oligosyndactyly.

Dimitrov BI, Voet T, De Smet L, Vermeesch JR, Devriendt K, Fryns JP, Debeer P. Dimitrov BI, et al. J Med Genet. 2010 Aug;47(8):569-74. doi: 10.1136/jmg.2009.073833. Epub 2010 Jul 7. J Med Genet. 2010. PMID: 20610440

10

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. 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

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