5 documents found, page 1 of 1
A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Prob...
Da Silva, Jorge Diogo; Oliva-Teles, Natália; Tkachenko, Nataliya; Fino, Joana; Marques, Mariana; Fortuna, Ana Maria; David, DezsoThe genetic complexity of neurodevelopmental disorders (NDD), combined with a heterogeneous clinical presentation, makes accurate assessment of their molecular bases and pathogenic mechanisms challenging. Our purpose is to reveal the pathogenic variant underlying a complex NDD through identification of the "full" spectrum of structural genomic and genetic variants. Therefore, clinical phenotyping and identifica...
Can the Synergic Contribution of Multigenic Variants Explain the Clinical and C...
Maia, N; Nabais Sá, Maria João; Oliveira, Cláudia; Santos, Flávia; Soares, Celia A; Prior, Catarina; Tkachenko, Nataliya; Santos, RosárioWe describe an infant female with a syndromic neurodevelopmental clinical phenotype and increased chromosome instability as cellular phenotype. Genotype characterization revealed heterozygous variants in genes directly or indirectly linked to DNA repair: a de novo X-linked HDAC8 pathogenic variant, a paternally inherited FANCG pathogenic variant and a maternally inherited BRCA2 variant of uncertain significance...
A NOVEL MISSENSE MUTATION IN THE ALPHATROPOMYOSIN (TPM1) GENE IN A FAMILY AFFEC...
Vieira, Emília; Oliveira, Márcia E; Tkachenko, Nataliya; Álvares, Sílvia; Machado, José Carlos; Fortuna, Ana Maria; Santos, Rosário
SÍNDROME DE POTOCKI-LUPSKI: MICRODUPLICAÇÃO 17P11.2 E ANOMALIAS CARDÍACAS
Lopes, Elisa; Pires, Sílvia; Candeias, Cristina; Oliva-Teles, Natália; Freitas, Manuela Mota; Tkachenko, Nataliya; Soares, Gabriela; Loureiro, Marília
A "de novo" inv dup del(6q) - a case report
Mota Freitas, Manuela; Candeias, Cristina; Oliva Teles, Natália; Soares, Gabriela; Tkachenko, Nataliya; Marques, Bárbara; Correia, Hildeberto