Lista de obras - Sofia Dória - Dominio Público Uruguay

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

artículo científico publicado en 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

artículo científico publicado en 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?

artículo científico publicado en 2010

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

artículo científico publicado en 2010

Chromosome mis-segregation and cytokinesis failure in trisomic human cells

artículo científico publicado en 2015

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

artículo científico publicado en 2002

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

artículo científico publicado en 2000

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

artículo científico publicado en 2002

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

artículo científico publicado en 2003

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

artículo científico publicado en 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

artículo científico publicado en 2015

Inv21p12q22del21q22 and intellectual disability

artículo científico publicado en 2012

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

artículo científico publicado en 2012

Neonatal dilated cardiomyopathy

artículo científico publicado en 2017

New findings in partial trisomy 16q: clinical report

artículo científico publicado en 2004

Normal sperm in a 2;2 homologous male translocation carrier

artículo científico publicado en 2012

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

artículo científico publicado en 2009

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

artículo científico publicado en 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

artículo científico publicado en 2014

Lista de obras de 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