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Sofia Dória
Sofia Dória
Professor de Genética Médica
E-mail confirmado em med.up.pt
Título
Citado por
Citado por
Ano
Chromosome mis-segregation and cytokinesis failure in trisomic human cells
JM Nicholson, JC Macedo, AJ Mattingly, D Wangsa, J Camps, V Lima, ...
elife 4, e05068, 2015
1102015
Treatment by testicular sperm extraction and intracytoplasmic sperm injection of 65 azoospermic patients with non‐mosaic Klinefelter syndrome with birth of 17 healthy children
C Madureira, M Cunha, M Sousa, AP Neto, MJ Pinho, P Viana, ...
Andrology 2 (4), 623-631, 2014
882014
Frequency of NUP98-NSD1 fusion transcript in childhood acute myeloid leukaemia
N Cerveira, C Correia, S Doria, S Bizarro, P Rocha, P Gomes, L Torres, ...
Leukemia 17 (11), 2244-2247, 2003
832003
Gene expression pattern of IGF2, PHLDA2, PEG10 and CDKN1C imprinted genes in spontaneous miscarriages or fetal deaths
S Dória, M Sousa, S Fernandes, C Ramalho, O Brandão, A Matias, ...
Epigenetics 5 (5), 444-450, 2010
692010
Relevance of genomic imprinting in intrauterine human growth expression of CDKN1C, H19, IGF2, KCNQ1 and PHLDA2 imprinted genes
A Cordeiro, AP Neto, F Carvalho, C Ramalho, S Dória
Journal of assisted reproduction and genetics 31, 1361-1368, 2014
612014
An efficient protocol for the detection of chromosomal abnormalities in spontaneous miscarriages or foetal deaths
S Dória, F Carvalho, C Ramalho, V Lima, T Francisco, AP Machado, ...
European Journal of Obstetrics & Gynecology and Reproductive Biology 147 (2 …, 2009
592009
Aneuploidies detection in miscarriages and fetal deaths using multiplex ligation-dependent probe amplification: an alternative for speeding up results?
B Carvalho, S Dória, C Ramalho, O Brandão, M Sousa, A Matias, ...
European Journal of Obstetrics & Gynecology and Reproductive Biology 153 (2 …, 2010
442010
Chronic Eosinophilic Leukaemia Presenting with Erythroderma, Mild Eosinophilia and Hyper-IgE: Clinical, Immunological and Cytogenetic Features and Therapeutic ApproachA Case Report
E Granjo, M Lima, JM Lopes, S Doria, A Orfao, S Ying, LT Barata, ...
Acta haematologica 107 (2), 108-112, 2002
422002
Neonatal dilated cardiomyopathy
P Soares, G Rocha, S Pissarra, H Soares, F Flôr-de-Lima, S Costa, ...
Revista portuguesa de cardiologia 36 (3), 201-214, 2017
312017
Premature ovarian insufficiency: clinical orientations for genetic testing and genetic counseling
F Barros, F Carvalho, A Barros, S Dória
Porto biomedical journal 5 (3), e62, 2020
302020
Altered expression of epigenetic regulators and imprinted genes in human placenta and fetal tissues from second trimester spontaneous pregnancy losses
S Vasconcelos, C Ramalho, CJ Marques, S Doria
Epigenetics 14 (12), 1234-1244, 2019
252019
Prevalence of chromosomal abnormalities in spontaneous abortions or fetal deaths
R Bastos, C Ramalho, S Dória
Acta Med Port 27 (1), 42-8, 2014
252014
Reproductive success of assisted reproductive technology in couples with chromosomal abnormalities
AR Jesus, S Silva-Soares, J Silva, M Severo, A Barros, S Dória
Journal of assisted reproduction and genetics 36, 1471-1479, 2019
242019
X-chromosome inactivation: implications in human disease
G Pereira, S Dória
Journal of Genetics 100 (2), 63, 2021
222021
Detection of prognostic significant translocations in childhood acute lymphoblastic leukaemia by one‐step multiplex reverse transcription polymerase chain reaction
N Cerveira, S Ferreira, S Dória, I Veiga, F Ferreira, JM Mariz, M Marques, ...
British journal of haematology 109 (3), 638-640, 2000
212000
Application of touch FISH in the study of mosaic tetraploidy and maternal cell contamination in pregnancy losses
S Dória, V Lima, B Carvalho, ML Moreira, M Sousa, A Barros, F Carvalho
Journal of assisted reproduction and genetics 27, 657-662, 2010
202010
Deregulation of imprinted genes expression and epigenetic regulators in placental tissue from intrauterine growth restriction
C Caniçais, S Vasconcelos, C Ramalho, CJ Marques, S Dória
Journal of Assisted Reproduction and Genetics 38, 791-801, 2021
162021
Expression and function of sodium transporters in two opossum kidney cell clonal sublines
P Gomes, J Xu, P Serrão, S Dória, PA Jose, P Soares-da-Silva
American Journal of Physiology-Renal Physiology 283 (1), F73-F85, 2002
162002
Late-onset Lennox-Gastaut syndrome as a phenotype of 15q11. 1q13. 3 duplication
J Rocha, C Guerra, R Oliveira, S Dória, R Rego, MJ Rosas
Epileptic Disorders 14, 159-162, 2012
132012
46, XX male disorder of sexual development
M Adrião, S Ferreira, RS Silva, M Garcia, S Dória, C Costa, ...
Clinical Pediatric Endocrinology 29 (1), 43-45, 2020
112020
O sistema não pode executar a operação agora. Tente novamente mais tarde.
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