Zobrazeno 1 - 10
of 282
pro vyhledávání: '"Kosyakova Nadezda"'
Autor:
Brečević Lukrecija, Rinčić Martina, Krsnik Željka, Sedmak Goran, Hamid Ahmed B., Kosyakova Nadezda, Galić Ivan, Liehr Thomas, Borovečki Fran
Publikováno v:
Translational Neuroscience, Vol 6, Iss 1, Pp 59-86 (2015)
We describe an as yet unreported neocentric small supernumerary marker chromosome (sSMC) derived from chromosome 1p21.3p21.2. It was present in 80% of the lymphocytes in a male patient with intellectual disability, severe speech deficit, mild dysmorp
Externí odkaz:
https://doaj.org/article/04322f15208f476d9751a605c83e07bb
Autor:
Kosyakova Nadezda, Hamid Ahmed Basheer, Chaveerach Arunrat, Pinthong Krit, Siripiyasing Pornnarong, Supiwong Weerayuth, Romanenko Svetlana, Trifonov Vladimir, Fan Xiaobo
Publikováno v:
Molecular Cytogenetics, Vol 6, Iss 1, p 6 (2013)
Abstract Background The multicolor banding (MCB/mBAND) technique provides a unique opportunity to characterize intrachromosomal rearrangements and to determine chromosomal breakpoints. Until recently, MCB probes have only been available for human and
Externí odkaz:
https://doaj.org/article/bed8d0a437ab41deae9c3d6b212f8e73
Autor:
Trifonov Vladimir, Liehr Thomas, Kosyakova Nadezda, Marchal Juan A, Sánchez Antonio, Cioffi Marcelo B, Bertollo Luiz AC
Publikováno v:
BMC Evolutionary Biology, Vol 11, Iss 1, p 186 (2011)
Abstract Background The Erythrinidae fish family is characterized by a large variation with respect to diploid chromosome numbers and sex-determining systems among its species, including two multiple X1X2Y sex systems in Hoplias malabaricus and Eryth
Externí odkaz:
https://doaj.org/article/f20f8a37666f47b0b7bceff6a8c028d5
Autor:
Ewers Elisabeth, Schmidt Catharina, Reichenbach Herbert, Ramel Christian, Kelbova Christina, Kläs Rüdiger, Lancé Jeannette, Cremer Friedrich W, Manvelyan Marina, Kreskowski Katharina, Ziegler Monika, Kosyakova Nadezda, Liehr Thomas
Publikováno v:
Molecular Cytogenetics, Vol 4, Iss 1, p 1 (2011)
Abstract Background Cytogenetically visible unbalanced chromosomal abnormalities (UBCA), reported for >50 euchromatic regions of almost all human autosomes, are comprised of a few megabases of DNA, and carriers are in many cases clinically healthy. I
Externí odkaz:
https://doaj.org/article/542610e77b3f459b866721ae64eba9c5
Autor:
Neitzel Heidemarie, Sperling Karl, Tönnies Holger, Kosyakova Nadezda, Naumchik Irina, Rumyantseva Natalia, Khurs Olga, Polityko Anna, Weise Anja, Liehr Thomas
Publikováno v:
Molecular Cytogenetics, Vol 3, Iss 1, p 5 (2010)
Abstract Background ICF syndrome (standing for Immunodeficiency, Centromere instability and Facial anomalies syndrome) is a very rare autosomal recessive immune disorder caused by mutations of the gene de novo DNA-methyltransferase 3B (DNMT3B). Howev
Externí odkaz:
https://doaj.org/article/8839432f1f4d4e41be4975b9ccc5b1b0
Autor:
Vermeesch Joris, Andrieux Joris, Desai Manisha, Sheth Jayesh, Weise Anja, Kosyakova Nadezda, Ewers Elisabeth, Sheth Frenny, Hamid Ahmed B, Ziegler Monika, Liehr Thomas
Publikováno v:
Molecular Cytogenetics, Vol 2, Iss 1, p 22 (2009)
Abstract Background Small supernumerary marker chromosomes (sSMC) can be present in numerically abnormal karyotypes like in a 'Turner-syndrome karyotype' mos 45,X/46,X,+mar. Results Here we report the first case of an sSMC found in Turner syndrome ka
Externí odkaz:
https://doaj.org/article/b7686302dc4c4624987736eb9c4b738e
Autor:
Oliveira Guiomar, Kosyakova Nadezda, Weise Anja, Vermeesch Joris, Backx Liesbeth, Rodrigues Carlos, Melo Joana B, Carreira Isabel M, Matoso Eunice
Publikováno v:
Molecular Cytogenetics, Vol 2, Iss 1, p 16 (2009)
Abstract Background Inverted duplications (inv dup) of a terminal chromosome region are a particular subset of rearrangements that often results in partial tetrasomy or partial trisomy when accompanied by a deleted chromosome. Associated mosaicism co
Externí odkaz:
https://doaj.org/article/6a16979014b940469b4f6e06375c7b51
Autor:
Garas Antonios, Weise Anja, Ewers Elisabeth, Kosyakova Nadezda, Kontodiou Maria, Anagnostopoulou Katerina, Lagou Magdalini, Manolakos Emmanouil, Kitsiou-Tzeli Sofia, Orru Sandro, Liehr Thomas, Metaxotou Aikaterini
Publikováno v:
Molecular Cytogenetics, Vol 2, Iss 1, p 8 (2009)
Externí odkaz:
https://doaj.org/article/752f0f94abd14369a0b74819797d42d0
Publikováno v:
Molecular Cytogenetics, Vol 2, Iss 1, p 4 (2009)
Abstract Background Chromosome banding is widely used in cytogenetics. However, the biological nature of hierarchically organized splitting of chromosomal bands of human chromosomes is an enigma and has not been, as yet, studied. Results Here we pres
Externí odkaz:
https://doaj.org/article/5b3dd6ad5ad8463c94829ba392c07af0
Autor:
Kokotas Haris, Orru Sandro, Mihalatos Markos, Weise Anja, Neroutsou Rozita, Thomaidis Loreta, Kosyakova Nadezda, Manolakos Emmanouil, Kitsos George, Liehr Thomas, Petersen Michael B
Publikováno v:
Molecular Cytogenetics, Vol 1, Iss 1, p 24 (2008)
Abstract We report on a 7 years and 4 months old Greek boy with mild microcephaly and dysmorphic facial features. He was a sociable child with maxillary hypoplasia, epicanthal folds, upslanting palpebral fissures with long eyelashes, and hyperteloris
Externí odkaz:
https://doaj.org/article/08d8a4f01e1742afa6f3a5e7431f6a13