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List of works by Isabel M. Carreira

(1)H NMR based metabonomics of human amniotic fluid for the metabolic characterization of fetus malformations.

scientific article

12q21.2q22 deletion: A new patient

scientific article published on 06 April 2015

A Novel Cryptic Three-Way Translocation t(2;9;18)(p23.2;p21.3;q21.33) with Deletion of Tumor Suppressor Genes in 9p21.3 and 13q14 in a T-Cell Acute Lymphoblastic Leukemia

scientific article published on 8 October 2014

A novel IGH@ gene rearrangement associated with CDKN2A/B deletion in young adult B-cell acute lymphoblastic leukemia

scientific article published on 29 January 2016

A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases.

scientific article published on 22 August 2015

Analytical approaches toward successful human cell metabolome studies by NMR spectroscopy.

scientific article

BIRC3 alterations in chronic and B-cell acute lymphocytic leukemia patients

scientific article published on 29 March 2016

Can nuclear magnetic resonance (NMR) spectroscopy reveal different metabolic signatures for lung tumours?

scientific article published on 13 October 2010

Chromosome 5 derived small supernumerary marker: towards a genotype/phenotype correlation of proximal chromosome 5 imbalances

scientific article published on 25 March 2011

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

scientific article

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

scientific article published on May 2, 2012

Cryptic 7q36.2q36.3 deletion causes multiple congenital eye anomalies and craniofacial dysmorphism

scientific article published on 07 February 2013

Cutis Aplasia as a clinical hallmark for the syndrome associated with 19q13.11 deletion: the possible role for UBA2 gene

scientific article

Cytogenetic, genomic, and epigenetic characterization of the HSC-3 tongue cell line with lymph node metastasis

scientific article published on 26 February 2018

Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome

scientific article published on 10 September 2007

Drug transporters play a key role in the complex process of Imatinib resistance in vitro.

scientific article published on 23 December 2014

Early detection and personalized treatment in oral cancer: the impact of omics approaches

scientific article

Effects of resistance exercise on endothelial progenitor cell mobilization in women.

scientific article published on 19 December 2017

European registration process for Clinical Laboratory Geneticists in genetic healthcare

scientific article

Fibroblasts of Machado Joseph Disease patients reveal autophagy impairment.

scientific article published on 22 June 2016

First prenatally detected small supernumerary neocentromeric derivative chromosome 13 resulting in a non-mosaic partial tetrasomy 13q.

scientific article published on 29 August 2008

Following Healthy Pregnancy by NMR Metabolomics of Plasma and Correlation to Urine

Following healthy pregnancy by nuclear magnetic resonance (NMR) metabolic profiling of human urine

scientific article

Generation of human iPSC line from a patient with laterality defects and associated congenital heart anomalies carrying a DAND5 missense alteration.

scientific article published on 31 October 2017

Genetic and epigenetic characterization of the tumors in a patient with a tongue primary tumor, a recurrence and a pharyngoesophageal second primary tumor

scientific article published on 11 April 2017

Genetic gains and losses in oral squamous cell carcinoma: impact on clinical management

scientific article published on 19 December 2013

Genetic imbalances detected by multiplex ligation-dependent probe amplification in a cohort of patients with oral squamous cell carcinoma-the first step towards clinical personalized medicine

scientific article published on 31 January 2014

Genomic and epigenetic characterization for the comparison of synchronous bilateral tongue squamous cell carcinomas-A case report

scientific article

Genomic and epigenetic signatures associated with survival rate in oral squamous cell carcinoma patients.

scientific article

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

scientific article published on 24 January 2014

Genomic predictive model for recurrence and metastasis development in head and neck squamous cell carcinoma patients.

scientific article published on 24 October 2017

Genomic profile of oral squamous cell carcinomas with an adjacent leukoplakia or with an erythroleukoplakia that evolved after the treatment of primary tumor: A report of two cases

scientific article published on 5 September 2017

High rates of submicroscopic aberrations in karyotypically normal acute lymphoblastic leukemia.

scientific article published on 30 June 2015

High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort

scientific article

Human bronchial epithelial cells malignantly transformed by hexavalent chromium exhibit an aneuploid phenotype but no microsatellite instability.

scientific article

Human plasma metabolomics in age-related macular degeneration (AMD) using nuclear magnetic resonance spectroscopy

scientific article

Human plasma stability during handling and storage: impact on NMR metabolomics

scientific article published on 20 January 2014

Impact of fetal chromosomal disorders on maternal blood metabolome: toward new biomarkers?

scientific article published on 25 July 2015

Impact of prenatal disorders on the metabolic profile of second trimester amniotic fluid: a nuclear magnetic resonance metabonomic study

scientific article published on 11 October 2010

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

scientific article

Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth.

scientific article published on 9 December 2014

Inv21p12q22del21q22 and intellectual disability

scientific article

Iodine deficiency a persisting problem: assessment of iodine nutrition and evaluation of thyroid nodular pathology in Portugal.

scientific article published on 12 September 2016

Isochromosome 17q in Chronic Lymphocytic Leukemia

scientific article

Late-onset hyperpigmentation: a case with multi-systemic involvement and recombinant X chromosome

scientific article published on 29 April 2009

MLPA analysis in a cohort of patients with autism

scientific article published on 04 February 2017

Maternal plasma phospholipids are altered in trisomy 21 cases and prior to preeclampsia and preterm outcomes.

scientific article

Metabolic Biomarkers of Prenatal Disorders: An Exploratory NMR Metabonomics Study of Second Trimester Maternal Urine and Blood Plasma

scientific article published on 30 June 2011

Metabolic Signatures of Lung Cancer in Biofluids: NMR-Based Metabonomics of Blood Plasma

scientific article published on 05 August 2011

Metabolic Signatures of Lung Cancer in Biofluids: NMR-Based Metabonomics of Urine

scientific article published on 23 November 2010

Metabolic profiling of human lung cancer tissue by 1H high resolution magic angle spinning (HRMAS) NMR spectroscopy

scientific article published on January 2010

Metabolite profiling of human amniotic fluid by hyphenated nuclear magnetic resonance spectroscopy

scientific article published on 20 June 2008

Mid-infrared (MIR) metabolic fingerprinting of amniotic fluid: a possible avenue for early diagnosis of prenatal disorders?

scientific article published on 22 December 2012

Mitochondrial DNA variants in a portuguese population of patients with Alzheimer's disease

scientific article

Molecular approaches identify a cryptic MECOM rearrangement in a child with a rapidly progressive myeloid neoplasm

scientific article published on 19 December 2017

Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 --> qter) detected in an autistic boy.

scientific article published on 4 August 2009

Molecular cytogenetic characterization of two cases with de novo small mosaic supernumerary marker chromosomes derived from chromosome 16: towards a genotype/phenotype correlation.

scientific article published on 31 August 2009

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

scientific article published on 20 June 2013

Mowat-Wilson syndrome: an underdiagnosed syndrome?

scientific article published on 28 April 2008

NMR metabolomics of human lung tumours reveals distinct metabolic signatures for adenocarcinoma and squamous cell carcinoma.

scientific article published on 3 November 2014

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

scientific article published on 25 July 2014

Newborn Urinary Metabolic Signatures of Prematurity and Other Disorders: A Case Control Study

scientific article

Novel Cryptic Rearrangements in Adult B-Cell Precursor Acute Lymphoblastic Leukemia Involving the MLL Gene

scientific article published on 19 February 2015

Null mutations and lethal congenital form of glycogen storage disease type IV.

scientific article published on 24 July 2007

Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.

scientific article published on 20 July 2015

Partial tetrasomy of chromosome 3q and mosaicism in a child with autism

scientific article published on April 2003

Potential markers of cisplatin treatment response unveiled by NMR metabolomics of human lung cells.

scientific article published on 3 October 2013

Potential of NMR spectroscopy for the study of human amniotic fluid

scientific article published on 6 October 2007

Prediction of Gestational Diabetes through NMR Metabolomics of Maternal Blood

scientific article published on 08 May 2015

Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication

scientific article

Second Trimester Maternal Urine for the Diagnosis of Trisomy 21 and Prediction of Poor Pregnancy Outcomes

scientific article published on 09 May 2013

Senescent bronchial fibroblasts induced to senescence by Cr(VI) promote epithelial-mesenchymal transition when co-cultured with bronchial epithelial cells in the presence of Cr(VI).

scientific article published on 17 November 2014

Stroma-derived IL-6, G-CSF and Activin-A mediated dedifferentiation of lung carcinoma cells into cancer stem cells

scientific article published in Scientific Reports

Tetra-amelia and lung hypo/aplasia syndrome: New case report and review

scientific article published on 01 November 2008

Three unusual but cytogenetically similar cases with up to five different cell lines involving structural and numerical abnormalities of chromosome 18.

scientific article published on 26 June 2007

Two new cases ofde novo small supernumerary marker chromosomes (sSMC) detected at prenatal diagnosis

scientific article published on 01 April 2007

UPLC-MS metabolic profiling of second trimester amniotic fluid and maternal urine and comparison with NMR spectral profiling for the identification of pregnancy disorder biomarkers

article

Urine Nuclear Magnetic Resonance (NMR) Metabolomics in Age-Related Macular Degeneration

scientific article published on 06 February 2019

WT1, MSH6, GATA5 and PAX5 as epigenetic oral squamous cell carcinoma biomarkers - a short report.

scientific article

β Thalassemia major due to acquired uniparental disomy in a previously healthy adolescent.

scientific article

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