Maria Sofia Ferreira Pacheco Quental
AuthID: R-000-MVD
1
TITLE: Familial juvenile hyperuricemic nephropathy: Revisiting the SLC8A1 gene, in a family with a novel terminal gross deletion in the UMOD gene
AUTHORS: Goncalves, Francisco; Lisboa Goncalves, Pedro; Quental, Rita; Fernandes, Susana; Quental, Sofia; Michel Calemard, Laurence; Goursaud, Claire; Marques, Sofia; Santos, Joana; Tavares, Isabel ; Oliveira, JP ;
PUBLISHED: 2024, SOURCE: 60th Congress of the European-Renal-Association (ERA) in NEFROLOGIA, VOLUME: 44, ISSUE: 4
AUTHORS: Goncalves, Francisco; Lisboa Goncalves, Pedro; Quental, Rita; Fernandes, Susana; Quental, Sofia; Michel Calemard, Laurence; Goursaud, Claire; Marques, Sofia; Santos, Joana; Tavares, Isabel ; Oliveira, JP ;
PUBLISHED: 2024, SOURCE: 60th Congress of the European-Renal-Association (ERA) in NEFROLOGIA, VOLUME: 44, ISSUE: 4
2
TITLE: Co-occurrence of neurofibromatosis type 1, caused by Alu insertion, and 16p13.11 microduplication Full Text
AUTHORS: Quental, Rita; Pinho, Diana; Tkachenko, Natalia; Gonzaga, Diana; Mota, Maria do Ceu; Garrido, Cristina; Carmona, Carla; Quental, Sofia; Fortuna, Ana Maria; Soares, Celia Azevedo;
PUBLISHED: 2024, SOURCE: EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS, VOLUME: 25, ISSUE: 1
AUTHORS: Quental, Rita; Pinho, Diana; Tkachenko, Natalia; Gonzaga, Diana; Mota, Maria do Ceu; Garrido, Cristina; Carmona, Carla; Quental, Sofia; Fortuna, Ana Maria; Soares, Celia Azevedo;
PUBLISHED: 2024, SOURCE: EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS, VOLUME: 25, ISSUE: 1
3
TITLE: DYNC2H1 splicing variants causing severe prenatal short-rib polydactyly syndrome and postnatal orofaciodigital syndrome Full Text
AUTHORS: Vasconcelos, Alice Porto; Quental, Sofia; Freixo, Joao Parente; Pacheco, Joao Machado; Rodrigues, Sofia; Magalhaes, Magda; Oliveira, Renata; Braga, Ana Costa; Quental, Rita;
PUBLISHED: 2024, SOURCE: ANNALS OF HUMAN GENETICS
AUTHORS: Vasconcelos, Alice Porto; Quental, Sofia; Freixo, Joao Parente; Pacheco, Joao Machado; Rodrigues, Sofia; Magalhaes, Magda; Oliveira, Renata; Braga, Ana Costa; Quental, Rita;
PUBLISHED: 2024, SOURCE: ANNALS OF HUMAN GENETICS
INDEXED IN: 
Scopus 
WOS
Scopus WOS4
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 WOS5
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
WOS6
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
WOS7
TITLE: The Mutational Spectrum of WT1 in Male Infertility
AUTHORS: Seabra, CM; Quental, S; Lima, AC; Carvalho, F ; Goncalves, J; Fernandes, S; Pereira, I; Silva, J; Marques, PI; Sousa, M ; Barros, A ; Seixas, S; Amorim, Antonio ; Lopes, AM;
PUBLISHED: 2015, SOURCE: JOURNAL OF UROLOGY, VOLUME: 193, ISSUE: 5
AUTHORS: Seabra, CM; Quental, S; Lima, AC; Carvalho, F ; Goncalves, J; Fernandes, S; Pereira, I; Silva, J; Marques, PI; Sousa, M ; Barros, A ; Seixas, S; Amorim, Antonio ; Lopes, AM;
PUBLISHED: 2015, SOURCE: JOURNAL OF UROLOGY, VOLUME: 193, ISSUE: 5
8
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
9
TITLE: A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia
AUTHORS: Seabra, CM; Quental, S; Neto, AP ; Carvalho, F ; Goncalves, J; Oliveira, JP ; Fernandes, S; Sousa, M ; Barros, A ; Amorim, Antonio ; Lopes, AM;
PUBLISHED: 2014, SOURCE: REPRODUCTIVE BIOMEDICINE ONLINE, VOLUME: 29, ISSUE: 3
AUTHORS: Seabra, CM; Quental, S; Neto, AP ; Carvalho, F ; Goncalves, J; Oliveira, JP ; Fernandes, S; Sousa, M ; Barros, A ; Amorim, Antonio ; Lopes, AM;
PUBLISHED: 2014, SOURCE: REPRODUCTIVE BIOMEDICINE ONLINE, VOLUME: 29, ISSUE: 3
10
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: 2012, SOURCE: JIMD Reports, VOLUME: 4
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: 2012, SOURCE: JIMD Reports, VOLUME: 4
