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Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification.
Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bartels I, Adolph S, Dufke A, Singer S, Stumm M, Wegner RD, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U, von Eggeling F, Liehr T. Starke H, et al. Among authors: kelbova c. Hum Genet. 2003 Dec;114(1):51-67. doi: 10.1007/s00439-003-1016-3. Epub 2003 Sep 16. Hum Genet. 2003. PMID: 13680362
Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: detailed molecular cytogenetic characterization and review of the literature.
Manvelyan M, Riegel M, Santos M, Fuster C, Pellestor F, Mazaurik ML, Schulze B, Polityko A, Tittelbach H, Reising-Ackermann G, Belitz B, Hehr U, Kelbova C, Volleth M, Gödde E, Anderson J, Küpferling P, Köhler S, Duba HC, Dufke A, Aktas D, Martin T, Schreyer I, Ewers E, Reich D, Mrasek K, Weise A, Liehr T. Manvelyan M, et al. Among authors: kelbova c. Int J Mol Med. 2008 Jun;21(6):705-14. Int J Mol Med. 2008. PMID: 18506363 Free article.
A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature.
Seidel J, Heller A, Senger G, Starke H, Chudoba I, Kelbova C, Tönnies H, Neitzel H, Haase C, Beensen V, Zintl F, Claussen U, Liehr T. Seidel J, et al. Among authors: kelbova c. Eur J Pediatr. 2003 Sep;162(9):582-8. doi: 10.1007/s00431-003-1254-3. Epub 2003 Jun 19. Eur J Pediatr. 2003. PMID: 12819962 Review.
Chromosome deletions in 13q33-34: report of four patients and review of the literature.
Walczak-Sztulpa J, Wisniewska M, Latos-Bielenska A, Linné M, Kelbova C, Belitz B, Pfeiffer L, Kalscheuer V, Erdogan F, Kuss AW, Ropers HH, Ullmann R, Tzschach A. Walczak-Sztulpa J, et al. Among authors: kelbova c. Am J Med Genet A. 2008 Feb 1;146A(3):337-42. doi: 10.1002/ajmg.a.32127. Am J Med Genet A. 2008. PMID: 18203171 Review.
[Complete trisomy 22].
Wollina K, Seidel J, Kirchner M, Beensen V, Kelbova C. Wollina K, et al. Among authors: kelbova c. Monatsschr Kinderheilkd. 1993 Mar;141(3):211-3. Monatsschr Kinderheilkd. 1993. PMID: 8474467 German.
New cytogenetically visible copy number variant in region 8q21.2.
Manvelyan M, Cremer FW, Lancé J, Kläs R, Kelbova C, Ramel C, Reichenbach H, Schmidt C, Ewers E, Kreskowski K, Ziegler M, Kosyakova N, Liehr T. Manvelyan M, et al. Among authors: kelbova c. Mol Cytogenet. 2011 Jan 5;4(1):1. doi: 10.1186/1755-8166-4-1. Mol Cytogenet. 2011. PMID: 21208402 Free PMC article.
13 results