3 documents found, page 1 of 1
The role of AKT3 copy number changes in brain abnormalities and neurodevelopmen...
Lopes, Fátima; Torres, Fátima; Soares, Gabriela; van Karnebeek, Clara D.; Martins, Cecília; Antunes, Diana; Silva, João; Muttucomaroe, LaurenMicrodeletions at 1q43-q44 have been described as resulting in a clinically recognizable phenotype of intellectual disability (ID), facial dysmorphisms and microcephaly (MIC). In contrast, the reciprocal microduplications of 1q43-q44 region have been less frequently reported and patients showed a variable phenotype, including macrocephaly. Reports of a large number of patients with copy number variations involv...
The role of AKT3 copy number changes in brain abnormalities and neurodevelopmen...
Lopes, Fátima Daniela Teixeira; Torres, Fátima; Soares, Gabriela; Karnebeek, Clara D. van; Martins, Cecília; Antunes, Diana; Silva, JoãoMicrodeletions at 1q43-q44 have been described as resulting in a clinically recognizable phenotype of intellectual disability (ID), facial dysmorphisms and microcephaly (MIC). In contrast, the reciprocal microduplications of 1q43-q44 region have been less frequently reported and patients showed a variable phenotype, including macrocephaly. Reports of a large number of patients with copy number variations involv...
NGS mapped breakpoints in balanced chromosomal rearrangements including the fir...
Tommerup, Niels; Fonseca, Ana Carolina; Mehrjouy, Mana; Rasmussen, Malene B.; Bache, Iben; Halgren, Christina; Kroisel, Peter; Midyan, SusannaMade available in DSpace on 2018-11-26T17:40:47Z (GMT). No. of bitstreams: 0 Previous issue date: 2017-06-29; Univ Copenhagen, Dept Cellular & Mol Med, Copenhagen, Denmark; Univ Sao Paulo, Dept Genet &Biol Evolut, Sao Paulo, Brazil; Med Univ Graz, Inst Humangenet, Graz, Austria; Ctr Med Genet, Center Med Genet & Primary Hlth Care, Yerevan, Armenia; Univ Leuven, Dept Human Genet, Leuven, Belgium; Rede Sarah Hosp...