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DELETION AND ADDITION OF CHROMATIN ON THE TIPS OF POLYTENE CHROMOSOMES OF DROSOPHILA-ARIZONENSIS
(Soc Brasil Genetica, 1981-01-01)
The dystrophinopathies in Costa Rica
(Universidad de Costa Rica, 2004)
De novo genome assembly of the cichlid fish Astatotilapia latifasciata reveals a higher level of genomic polymorphism and genes related to B chromosomes
(2019-01-01)
Supernumerary B chromosomes (Bs) are accessory elements to the regular chromosome set (As) and have been observed in a huge diversity of eukaryotic species. Although extensively investigated, the biological significance ...
Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene
(Biomed Central Ltd, 2012-01-19)
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 ...
MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported
(ELSEVIER SCIENCE BV, 2009)
Sotos syndrome (MIM #117550) is an autosomal dominant condition characterized by pre and postnatal overgrowth, macrocephaly and typical facial gestalt with frontal bossing, hypertelorism, antimongoloid slant of the palpebral ...
MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported
(Elsevier B.V., 2009-09-01)
Sotos syndrome (MIM #117550) is an autosomal dominant condition characterized by pre and postnatal overgrowth, macrocephaly and typical facial gestalt with frontal bossing, hypertelorism, antimongoloid slant of the palpebral ...