Susana I. Ferreira

Coimbra, Portugal

Last Updated: 09/26/2026

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Found 9 publications

Small supernumerary marker chromosomes derived from human chromosome 11.

Small supernumerary marker chromosomes derived from human chromosome 11.

Journal: Frontiers in genetics

Published: September 13, 2023

Tremor is a major feature of 9p13 deletion syndrome.

Tremor is a major feature of 9p13 deletion syndrome.

Journal: American journal of medical genetics. Part A

Published: April 19, 2020

Prevalence of cytogenetic abnormalities and FMR1 gene premutation in a Portuguese population with premature ovarian insufficiency.

Prevalence of cytogenetic abnormalities and FMR1 gene premutation in a Portuguese population with premature ovarian insufficiency.

Journal: Acta medica portuguesa

Published: January 23, 2020

Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients.

Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients.

Journal: Molecular cytogenetics

Published: August 10, 2015

Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes.

Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes.

Journal: Journal of medical genetics

Published: July 27, 2014

Genomic characterization of three urinary bladder cancer cell lines: understanding genomic types of urinary bladder cancer.

Genomic characterization of three urinary bladder cancer cell lines: understanding genomic types of urinary bladder cancer.

Journal: Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine

Published: November 19, 2013

Mosaicism for FMR1 gene full mutation and intermediate allele in a female foetus: a postzygotic retraction event.

Mosaicism for FMR1 gene full mutation and intermediate allele in a female foetus: a postzygotic retraction event.

Journal: Gene

Published: February 28, 2013

Insertional translocation leading to a 4q13 duplication including the EPHA5 gene in two siblings with attention-deficit hyperactivity disorder.

Insertional translocation leading to a 4q13 duplication including the EPHA5 gene in two siblings with attention-deficit hyperactivity disorder.

Journal: American journal of medical genetics. Part A

Published: April 28, 2012

Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region.

Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region.

Journal: Molecular cytogenetics

Published: March 12, 2012

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Last Updated: 09/26/2026