Results 21 to 30 of about 455,442 (295)

Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene

Molecular Cytogenetics, 2012
Background The majority of Marfan syndrome (MFS) cases is caused by mutations in the fibrillin-1 gene (FBN1), mapped to chromosome 15q21.1. Only few reports on deletions including the whole FBN1 gene, detected by molecular cytogenetic techniques, were ...
Colovati Mileny ES, da Silva Luciana RJ, Takeno Sylvia S, Mancini Tatiane I, N Dutra Ana R, Guilherme Roberta S, de Mello Cláudia B, Melaragno Maria I, A Perez Ana B   +8 more
doaj   +1 more source

Functional and molecular effects of chromosome 21 trisomy [PDF]

, 2010
Down Syndrome (DS) is the most frequent autosomal aneuploidy that is compatible with post-natal life. The DS phenotype has been attributed to overexpression of chromosome 21 (Hsa21) genes.
Izzo, Antonella
core   +1 more source

Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea

Case Reports in Genetics, 2012
We report a 16-year-old girl who presented with short stature and amenorrhea. Initially the cytogenetic analysis showed the presence of a mosaic non-Robertsonian dicentric chromosome involving chromosomes 14 and 19.
Usha R. Dutta, Vijaya Kumar Pidugu, Ashwin Dalal   +2 more
doaj   +1 more source

Chromosome anomalies in bone marrow as primary cause of aplastic or hypoplastic conditions and peripheral cytopenia: disorders due to secondary impairment of RUNX1 and MPL genes

Molecular Cytogenetics, 2012
Background Chromosome changes in the bone marrow (BM) of patients with persistent cytopenia are often considered diagnostic for a myelodysplastic syndrome (MDS).
Marletta Cristina, Valli Roberto, Pressato Barbara, Mare Lydia, Montalbano Giuseppe, Menna Giuseppe, Loffredo Giuseppe, Bernardo Maria, Vinti Luciana, Ferrari Simona, Di Cesare-Merlone Alessandra, Zecca Marco, Lo Curto Francesco, Locatelli Franco, Pasquali Francesco, Maserati Emanuela   +15 more
doaj   +1 more source

A Natural System of Chromosome Transfer in Yersinia pseudotuberculosis [PDF]

, 2012
The High Pathogenicity Island of Yersinia pseudotuberculosis IP32637 was previously shown to be horizontally transferable as part of a large chromosomal segment.
Biliana Lesic, Didier Mazel (158958), Magaly Ducos-Galand, Didier Mazel, Magaly Ducos-Galand (178854), Marie-Christine Prévost, Prévost Marie-Christine, Huon Christèle, Marie-Laure Rosso, Ducos-Galand, Magaly, Zouine, Mohamed, Marie-Christine Prévost (2280838), Christèle Huon (178859), Marie-Laure Rosso (178864), Carniel Elisabeth, Christèle Huon, Elisabeth Carniel (87260), Ducos-Galand Magaly, Mohamed Zouine, Mazel, Didier, Biliana Lesic (45391), Elisabeth Carniel, Lesic, Biliana, Rosso, Marie-Laure, Mazel Didier, Prévost, Marie-Christine, Mohamed Zouine (178847), Zouine Mohamed, Lesic Biliana, Huon, Christèle, Carniel, Elisabeth, Rosso Marie-Laure   +31 more
core   +2 more sources

Chromosome Duplication (14q) and The Genotype Phenotype Correlation [PDF]

International Journal of Fertility and Sterility, 2014
The rearrangement of chromosome 14 is a rare cytogenetic finding. Changes in the number or structure of chromosome 14 can have a variety of effects, such as delayed growth and development, and distinctive facial features.
Ariane Sadr-Nabavi, Morteza Saeidi
doaj  

Complex Variant of Philadelphia Translocation Involving Chromosomes 9, 12, and 22 in a Case with Chronic Myeloid Leukaemia

Case Reports in Genetics, 2014
Chronic myeloid leukemia (CML) is a hematopoietic stem cell disorder included in the broader diagnostic category of myeloproliferative neoplasms, associated with fusion by BCR gene at chromosome 22q11 to ABL1 gene at chromosome 9q34 with the formation ...
F. Malvestiti, C. Agrati, S. Chinetti, A. Di Meco, S. Cirrincione, M. Oggionni, B. Grimi, F. Maggi, G. Simoni, F. R. Grati   +9 more
doaj   +1 more source

Review of chromosome cytology in Moraea (Iridaceae: Irideae): what chromosomes reveal about the evolution of the genus

Bothalia: African Biodiversity & Conservation, 2013
A review of the chromosome cytology of the African and Eurasian geophytic genus Moraea Mill. (currently 214 spp.); including 51 new counts, many for taxa poorly known cytologically or not counted before, that shows that 167 species, representing 78% of ...
P. Goldblatt, J. C. Manning
doaj   +1 more source

Linkage Disequilibrium-Based Inference of Genome Homology and Chromosomal Rearrangements Between Species

G3: Genes, Genomes, Genetics, 2020
The aim of this study was to analyze the genomic homology between cattle (Bos taurus) and buffaloes (Bubalus bubalis) and to propose a rearrangement of the buffalo genome through linkage disequilibrium analyses of buffalo SNP markers referenced in the ...
Daniel Jordan de Abreu Santos, Gregório Miguel Ferreira de Camargo, Diercles Francisco Cardoso, Marcos Eli Buzanskas, Rusbel Raul Aspilcueta-Borquis, Naudin Alejandro Hurtado-Lugo, Francisco Ribeiro de Araújo Neto, Lúcia Galvão de Albuquerque, Li Ma, Humberto Tonhati   +9 more
doaj   +1 more source

Chromosome Evolution in New World Monkeys (Platyrrhini) [PDF]

, 2012
During the last decades, New World monkey (NWM, Platyrrhini, Anthropoideae) comparative cytogenetics has shed light on many fundamental aspects of genome organisation and evolution in this fascinating, but also highly endangered group of neotropical ...
Müller, Stefan, Neusser, Michaela, de Oliveira, E. H. C.   +2 more
core   +1 more source