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TITLE: A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1)
AUTHORS: Da Silva, Jorge Diogo; Oliva Teles, Natalia ; Tkachenko, Nataliya; Fino, Joana; Marques, Mariana; Fortuna, Ana Maria; David, Dezso ;
PUBLISHED: 2023, SOURCE: BIOMEDICINES, VOLUME: 11, ISSUE: 1

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TITLE: DEVELOPMENTAL DELAY IN A PATIENT WITH THREE INHERITED CHROMOSOME REARRANGEMENTS Full Text
AUTHORS: Pires, Silvia; Candeias, Cristina; Freitas, Manuela M.; Soares, Ana R.; Oliva Teles, Natalia ;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13

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TITLE: PATHWAYS INVOLVED IN THE DOWNSTREAM EFFECTS OF CHROMOSOME 17Q12 MICRODELETION SYNDROME: INSIGHTS ON POSSIBLE CAUSES FOR DIFFERENT SYMPTOMS Full Text
AUTHORS: Costa, Julieta; Ehrhart, Friederike; Candeias, Cristina; Oliva Teles, Natalia ;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13

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TITLE: A 3,195 kb duplication at 2q14.3 in a proband with a t(17;19)(p13.1;p13.3)mat is most likely associated with craniofacial dimorphisms, developmental and neurological anomalies
AUTHORS: Oliva Teles, Natalia ; Marques, Mariana; Mota Freitas, Manuela; Candeias, Cristina; Fino, Joana; Fortuna, Ana; David, Dezso;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1

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TITLE: Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4-BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature
AUTHORS: Oliva Teles, N ; de Stefano, MC; Gallagher, L; Rakic, S; Jorge, P; Cuturilo, G; Markovska Simoska, S; Borg, I; Wolstencroft, J; Tumer, Z; Harwood, AJ; Kodra, Y; Skuse, D;
PUBLISHED: 2020, SOURCE: INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH, VOLUME: 17, ISSUE: 24

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