List of works - Sofia Dória

12q14 microduplication: a new clinical entity reciprocal to the microdeletion syndrome?

scientific article published on 03 January 2020

Altered expression of epigenetic regulators and imprinted genes in human placenta and fetal tissues from second trimester spontaneous pregnancy losses

scientific article published on 29 June 2019

An efficient protocol for the detection of chromosomal abnormalities in spontaneous miscarriages or foetal deaths

scientific article published in December 2009

Aneuploidies Detection in Miscarriages and Fetal Deaths Using Multiplex Ligation-Dependent Probe Amplification: An Alternative for Speeding up Results?

Aneuploidies detection in miscarriages and fetal deaths using multiplex ligation-dependent probe amplification: an alternative for speeding up results?

scientific article published on 01 August 2010

Application of touch FISH in the study of mosaic tetraploidy and maternal cell contamination in pregnancy losses

scientific article

Chromosome mis-segregation and cytokinesis failure in trisomic human cells

scientific article published on 5 May 2015

Chronic eosinophilic leukaemia presenting with erythroderma, mild eosinophilia and hyper-IgE: clinical, immunological and cytogenetic features and therapeutic approach. A case report

scientific article published in January 2002

Detection of prognostic significant translocations in childhood acute lymphoblastic leukaemia by one-step multiplex reverse transcription polymerase chain reaction

scientific article published in June 2000

Expression and function of sodium transporters in two opossum kidney cell clonal sublines

scientific article published in July 2002

Frequency of NUP98-NSD1 fusion transcript in childhood acute myeloid leukaemia

scientific article published on 14 August 2003

Gene expression pattern of IGF2, PHLDA2, PEG10 and CDKN1C imprinted genes in spontaneous miscarriages or fetal deaths

scientific article published in July 2010

Identification of Copy Number Variation by Array-CGH in Portuguese Children and Adolescents Diagnosed with Autism Spectrum Disorders

scientific article published on 09 August 2019

Intellectual disability and overgrowth-A new case of 19p13.13 microdeletion syndrome with digital abnormalities

scientific article published on 4 September 2015

Inv21p12q22del21q22 and intellectual disability

scientific article

Late-onset Lennox-Gastaut syndrome as a phenotype of 15q11.1q13.3 duplication

scientific article

Neonatal dilated cardiomyopathy

scientific article published on 27 February 2017

New findings in partial trisomy 16q: clinical report

scientific article published on 01 June 2004

Normal sperm in a 2;2 homologous male translocation carrier

scientific article published on 27 April 2012

Phenotypic expression in the first case of complete trisomy 12: combination of prenatal ultrasound and necropsic examination

scientific article published on 3 June 2009

Relevance of genomic imprinting in intrauterine human growth expression of CDKN1C, H19, IGF2, KCNQ1 and PHLDA2 imprinted genes

scientific article published on 2 July 2014

Reproductive success of assisted reproductive technology in couples with chromosomal abnormalities

scientific article published on 18 May 2019

Treatment by testicular sperm extraction and intracytoplasmic sperm injection of 65 azoospermic patients with non-mosaic Klinefelter syndrome with birth of 17 healthy children

scientific article published on 23 June 2014

List of works by Sofia Dória

12q14 microduplication: a new clinical entity reciprocal to the microdeletion syndrome?

Altered expression of epigenetic regulators and imprinted genes in human placenta and fetal tissues from second trimester spontaneous pregnancy losses

An efficient protocol for the detection of chromosomal abnormalities in spontaneous miscarriages or foetal deaths

Aneuploidies Detection in Miscarriages and Fetal Deaths Using Multiplex Ligation-Dependent Probe Amplification: An Alternative for Speeding up Results?

Aneuploidies detection in miscarriages and fetal deaths using multiplex ligation-dependent probe amplification: an alternative for speeding up results?

Application of touch FISH in the study of mosaic tetraploidy and maternal cell contamination in pregnancy losses

Chromosome mis-segregation and cytokinesis failure in trisomic human cells

Chronic eosinophilic leukaemia presenting with erythroderma, mild eosinophilia and hyper-IgE: clinical, immunological and cytogenetic features and therapeutic approach. A case report

Detection of prognostic significant translocations in childhood acute lymphoblastic leukaemia by one-step multiplex reverse transcription polymerase chain reaction

Expression and function of sodium transporters in two opossum kidney cell clonal sublines

Frequency of NUP98-NSD1 fusion transcript in childhood acute myeloid leukaemia

Gene expression pattern of IGF2, PHLDA2, PEG10 and CDKN1C imprinted genes in spontaneous miscarriages or fetal deaths

Identification of Copy Number Variation by Array-CGH in Portuguese Children and Adolescents Diagnosed with Autism Spectrum Disorders

Intellectual disability and overgrowth-A new case of 19p13.13 microdeletion syndrome with digital abnormalities

Inv21p12q22del21q22 and intellectual disability

Late-onset Lennox-Gastaut syndrome as a phenotype of 15q11.1q13.3 duplication

Neonatal dilated cardiomyopathy

New findings in partial trisomy 16q: clinical report

Normal sperm in a 2;2 homologous male translocation carrier

Phenotypic expression in the first case of complete trisomy 12: combination of prenatal ultrasound and necropsic examination

Relevance of genomic imprinting in intrauterine human growth expression of CDKN1C, H19, IGF2, KCNQ1 and PHLDA2 imprinted genes

Reproductive success of assisted reproductive technology in couples with chromosomal abnormalities

Treatment by testicular sperm extraction and intracytoplasmic sperm injection of 65 azoospermic patients with non-mosaic Klinefelter syndrome with birth of 17 healthy children