Zobrazeno 1 - 10
of 387
pro vyhledávání: '"Weise Anja"'
Autor:
Fan Xiaobo, Tanomtong Alongkoad, Chaveerach Arunrat, Pinthong Krit, Pornnarong Siripiyasing, Supiwong Weerayuth, Liehr Thomas, Weise Anja
Publikováno v:
Archives of Biological Sciences, Vol 66, Iss 4, Pp 1603-1607 (2014)
Comparative chromosome banding analysis and/or fluorescence in situ hybridization (FISH) studies are established approaches to compare human and ape chromosomes. FISH banding is a relatively new and not routinely applied method very well suited to
Externí odkaz:
https://doaj.org/article/1c7b8911937442ada7ae0d16ba3df91a
Autor:
Mulatinho Milene, de Carvalho Serao Cassio, Scalco Fernanda, Hardekopf David, Pekova Sona, Mrasek Kristin, Liehr Thomas, Weise Anja, Rao Nagesh, Llerena Juan
Publikováno v:
Molecular Cytogenetics, Vol 5, Iss 1, p 30 (2012)
Abstract Background Recently, array-comparative genomic hybridization (aCGH) platforms have significantly improved the resolution of chromosomal analysis allowing the identification of genomic copy number gains and losses smaller than 5 Mb. Here we r
Externí odkaz:
https://doaj.org/article/8f6bb41270474fb88e6e450430cd29b4
Autor:
Akarsu Nurten, Posorski Nicole, Yalaz Kalbiye, von Eggeling Ferdinand, Weise Anja, Mrasek Kristin, Utine Eda G, Aktas Dilek, Alikasifoglu Mehmet, Liehr Thomas, Tuncbilek Ergul
Publikováno v:
Molecular Cytogenetics, Vol 3, Iss 1, p 10 (2010)
Abstract Background Genomic imbalances constitute a major cause of congenital and developmental abnormalities. GLUT1 deficiency syndrome is caused by various de novo mutations in the facilitated human glucose transporter 1 gene (1p34.2) and patients
Externí odkaz:
https://doaj.org/article/2e407a87ddd5484a9d4f4c35f14fe814
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:
Thieme Heike, von Eggeling Ferdinand, Mrasek Kristin, Alehan Dursun, Utine Eda, Weise Anja, Aktas Dilek, Tuncbilek Ergul, Liehr Thomas
Publikováno v:
Molecular Cytogenetics, Vol 2, Iss 1, p 14 (2009)
Abstract Background Because of low copy repeats (LCRs) and common inversion polymorphisms, the human chromosome 8p is prone to a number of recurrent rearrangements. Each of these rearrangements is associated with several phenotypic features. We repor
Externí odkaz:
https://doaj.org/article/791b192dd14c4a61a256dbb83b1eb866
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:
Mrasek Kristin, Bhatt Samarth, Hunstig Friederike, Manvelyan Marina, Pellestor Franck, Weise Anja, Simonyan Isabella, Aroutiounian Rouben, Liehr Thomas
Publikováno v:
Molecular Cytogenetics, Vol 1, Iss 1, p 25 (2008)
Abstract Background Nuclear architecture studies in human sperm are sparse. By now performed ones were practically all done on flattened nuclei. Thus, studies close at the in vivo state of sperm, i.e. on three-dimensionally conserved interphase cells
Externí odkaz:
https://doaj.org/article/2d5c6faa2db347b5aad2001de4200134