Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring system

Autor: Sílvia Pires, Paula Jorge, Thomas Liehr, Natália Oliva-Teles

Publikováno v: Human Genome Variation, Vol 11, Iss 1, Pp 1-6 (2024)

Abstract Chromosomal heteromorphisms (CHs) are morphological variations predominantly found in constitutive heterochromatic regions of the genome, primarily composed of tandemly repetitive sequences of satellite DNA. Although not completely devoid of

Externí odkaz: https://doaj.org/article/1b6cd479731042bc8e3f809ef43c7f81

Diagnóstico genético pré-implantação: aspetos técnicos e considerações éticas.

Autor: Natália Oliva Teles

Publikováno v: Acta Médica Portuguesa, Vol 24, Iss 6 (2012)

Following the advances in the techniques of medically assisted reproduction (ART), 1990 has seen the first born child after the development of pre-implantation genetic diagnosis. In this analysis embryos are tested for the presence of genetic anomali

Externí odkaz: https://doaj.org/article/621d76f310e048e09345f8e34891133c

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)

Autor: Jorge Diogo Da Silva, Natália Oliva-Teles, Nataliya Tkachenko, Joana Fino, Mariana Marques, Ana Maria Fortuna, Dezso David

Publikováno v: Biomedicines, Vol 11, Iss 1, p 12 (2022)

The 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 varia

Externí odkaz: https://doaj.org/article/8bbe1e18206e44ee8ed510f6cbda8464

Brain Calcifications in Complex Sexual Aneuploidy

Autor: José Pedro Rocha, Joana Damásio, Vanessa Oliveira, Natália Oliva-Teles, Cristina Candeias

Publikováno v: Mov Disord Clin Pract

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::766a09880b7674ef98b79776ec6557b6
https://europepmc.org/articles/PMC8564813/

Rare pathogenic copy number variation in the 16p11.2 (BP4–BP5) region associated with neurodevelopmental and neuropsychiatric disorders: a review of the literature

Autor: Goran Cuturilo, Jeanne Wolstencroft, Natália Oliva-Teles, Adrian J. Harwood, David Skuse, Yllka Kodra, Severin Rakic, Silvana Markovska-Simoska, Louise Gallagher, Maria Chiara de Stefano, Paula Jorge, Isabella Borg, Zeynep Tümer

Publikováno v: Oliva-Teles, N, de Stefano, M C, Gallagher, L, Rakic, S, Jorge, P, Cuturilo, G, Markovska-Simoska, S, Borg, I, Wolstencroft, J, Tümer, Z, Harwood, A J, Kodra, Y & Skuse, D 2020, ' Rare pathogenic copy number variation in the 16p11.2 (bp4–bp5) region associated with neurodevelopmental and neuropsychiatric disorders : A review of the literature ', International Journal of Environmental Research and Public Health, vol. 17, no. 24, 9253, pp. 1-16 . https://doi.org/10.3390/ijerph17249253
International Journal of Environmental Research and Public Health
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
International Journal of Environmental Research and Public Health, Vol 17, Iss 9253, p 9253 (2020)

Copy number variants (CNVs) play an important role in the genetic underpinnings of neuropsychiatric/neurodevelopmental disorders. The chromosomal region 16p11.2 (BP4-BP5) harbours both deletions and duplications that are associated in carriers with n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edc8847ed8838c41fbc243fab338ac11
https://orca.cardiff.ac.uk/id/eprint/137241/1/RARE-P~1.PDF