Maria Sofia Ferreira Pacheco Quental
AuthID: R-000-MVD
1
TITLE: A Novel Homozygous Splice Site Variant in AIMP1 Gene Causing Hypomyelinating Leukodystrophy: Case Report and Review of the Literature
AUTHORS: Quental, Rita; Sampaio, Mafalda; Alonso, Isabel; Quental, Sofia; Leao, Miguel; Sousa, Raquel;
PUBLISHED: 2023, SOURCE: NEUROPEDIATRICS, VOLUME: 54, ISSUE: 2
AUTHORS: Quental, Rita; Sampaio, Mafalda; Alonso, Isabel; Quental, Sofia; Leao, Miguel; Sousa, Raquel;
PUBLISHED: 2023, SOURCE: NEUROPEDIATRICS, VOLUME: 54, ISSUE: 2
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: BIALLELIC DYNC2H1 SPLICING VARIANTS CAUSING PRENATAL SHORT-RIB POLYDACTYLY SYNDROME: CLINICAL, RADIOLOGICAL, AND HISTOPATHOLOGIC FEATURES Full Text
AUTHORS: Quental, Rita; Vasconcelos, Alice; Pacheco, Joao Machado; Quental, Sofia; Rodrigues, Sofia; Magalhaes, Magda; Freixo, Joao Parente; Oliveira, Renata; Braga, Ana Costa;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Quental, Rita; Vasconcelos, Alice; Pacheco, Joao Machado; Quental, Sofia; Rodrigues, Sofia; Magalhaes, Magda; Freixo, Joao Parente; Oliveira, Renata; Braga, Ana Costa;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
WOS3
TITLE: Hereditary Leiomyomatosis and Renal Cell Cancer-Recognizing Patterns May Save Lives
AUTHORS: Tavares, Catarina; Quental, Maria Sofia; Brandao, Jose Ricardo; Silva Ramos, Miguel;
PUBLISHED: 2022, SOURCE: JOURNAL OF KIDNEY CANCER AND VHL, VOLUME: 9, ISSUE: 2
AUTHORS: Tavares, Catarina; Quental, Maria Sofia; Brandao, Jose Ricardo; Silva Ramos, Miguel;
PUBLISHED: 2022, SOURCE: JOURNAL OF KIDNEY CANCER AND VHL, VOLUME: 9, ISSUE: 2
INDEXED IN: WOS
WOS4
TITLE: The Mutational Spectrum of WT1 in Male Infertility
AUTHORS: Catarina M Seabra; Sofia Quental; Ana C Lima; Filipa Carvalho ; Joao Goncalves; Susana Fernandes; Iris Pereira; Julia Silva; Patricia I Marques; Mario Sousa ; Alberto Barros ; Susana Seixas; Amorim, Antonio ; Alexandra M Lopes;
PUBLISHED: 2015, SOURCE: JOURNAL OF UROLOGY, VOLUME: 193, ISSUE: 5
AUTHORS: Catarina M Seabra; Sofia Quental; Ana C Lima; Filipa Carvalho ; Joao Goncalves; Susana Fernandes; Iris Pereira; Julia Silva; Patricia I Marques; Mario Sousa ; Alberto Barros ; Susana Seixas; Amorim, Antonio ; Alexandra M Lopes;
PUBLISHED: 2015, SOURCE: JOURNAL OF UROLOGY, VOLUME: 193, ISSUE: 5
5
TITLE: Pharmacogenetic polymorphisms in a portuguese gypsy population
AUTHORS: Teixeira, J; Amorim, Antonio ; Prata, MJ ; Quental, S;
PUBLISHED: 2015, SOURCE: Current Pharmacogenomics and Personalized Medicine, VOLUME: 13, ISSUE: 1
AUTHORS: Teixeira, J; Amorim, Antonio ; Prata, MJ ; Quental, S;
PUBLISHED: 2015, SOURCE: Current Pharmacogenomics and Personalized Medicine, VOLUME: 13, ISSUE: 1
6
TITLE: A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia
AUTHORS: Catarina M Seabra; Sofia Quental; Ana Paula Neto ; Filipa Carvalho ; Joao Goncalves; Oliveira, JP ; Susana Fernandes; Mario Sousa ; Alberto Barros ; Amorim, Antonio ; Alexandra M Lopes;
PUBLISHED: 2014, SOURCE: REPRODUCTIVE BIOMEDICINE ONLINE, VOLUME: 29, ISSUE: 3
AUTHORS: Catarina M Seabra; Sofia Quental; Ana Paula Neto ; Filipa Carvalho ; Joao Goncalves; Oliveira, JP ; Susana Fernandes; Mario Sousa ; Alberto Barros ; Amorim, Antonio ; Alexandra M Lopes;
PUBLISHED: 2014, SOURCE: REPRODUCTIVE BIOMEDICINE ONLINE, VOLUME: 29, ISSUE: 3
7
TITLE: Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient
AUTHORS: Maria Francisca Coutinho; Liliana da Silva Santos; Lúcia Lacerda; Sofia Quental; Flemming Wibrand; Allan M Lund; Klaus B Johansen; Maria João Prata ; Sandra Alves;
PUBLISHED: 2011, SOURCE: JIMD Reports - JIMD Reports - Case and Research Reports, 2012/1
AUTHORS: Maria Francisca Coutinho; Liliana da Silva Santos; Lúcia Lacerda; Sofia Quental; Flemming Wibrand; Allan M Lund; Klaus B Johansen; Maria João Prata ; Sandra Alves;
PUBLISHED: 2011, SOURCE: JIMD Reports - JIMD Reports - Case and Research Reports, 2012/1
8
TITLE: Recognition of Graphs with Convex Quadratic Stability Number Full Text
AUTHORS: Maria F Pacheco; Domingos M Cardoso ; Theodore E Simos; George Psihoyios; Ch Tsitouras;
PUBLISHED: 2009, SOURCE: International Conference on Numerical Analysis and Applied Mathematics in NUMERICAL ANALYSIS AND APPLIED MATHEMATICS, VOLS 1 AND 2, VOLUME: 1168
AUTHORS: Maria F Pacheco; Domingos M Cardoso ; Theodore E Simos; George Psihoyios; Ch Tsitouras;
PUBLISHED: 2009, SOURCE: International Conference on Numerical Analysis and Applied Mathematics in NUMERICAL ANALYSIS AND APPLIED MATHEMATICS, VOLS 1 AND 2, VOLUME: 1168
9
TITLE: Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.
AUTHORS: Ferreira, S; Valbuena, C; Carvalho, F ; Oliveira, JP ;
PUBLISHED: 2009, SOURCE: Human genetics, VOLUME: 126, ISSUE: 2
AUTHORS: Ferreira, S; Valbuena, C; Carvalho, F ; Oliveira, JP ;
PUBLISHED: 2009, SOURCE: Human genetics, VOLUME: 126, ISSUE: 2
INDEXED IN: Scopus
Scopus10
TITLE: Effect of single-nucleotide polymorphisms of the 5 ' untranslated region of the human alpha-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians Full Text
AUTHORS: Oliveira, JP ; Ferreira, S; Barcelo, J; Gaspar, P; Carvalho, F ; Miranda, MCS ; Mansson, JE;
PUBLISHED: 2008, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 31, ISSUE: S2
AUTHORS: Oliveira, JP ; Ferreira, S; Barcelo, J; Gaspar, P; Carvalho, F ; Miranda, MCS ; Mansson, JE;
PUBLISHED: 2008, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 31, ISSUE: S2
