Ana Rita Ferreira Pacheco Quental
AuthID: R-001-GCF
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: Impact of copy number variants in epilepsy plus neurodevelopment disorders Full Text
AUTHORS: Joao, Sofia; Quental, Rita; Pinto, Joel; Almeida, Carolina; Santos, Helena; Doria, Sofia ;
PUBLISHED: 2024, SOURCE: SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, VOLUME: 117
AUTHORS: Joao, Sofia; Quental, Rita; Pinto, Joel; Almeida, Carolina; Santos, Helena; Doria, Sofia ;
PUBLISHED: 2024, SOURCE: SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, VOLUME: 117
3
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
4
TITLE: Detection of a de novo heterozygous ANK2 variant in a child with autism spectrum disorder and epilepsy: a case report Full Text
AUTHORS: Morais, Catarina Granjo; Quental, Rita; Lourenco, Lara; Guardiano, Micaela; Silva, Carmen; Leao, Miguel;
PUBLISHED: 2023, SOURCE: EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS, VOLUME: 24, ISSUE: 1
AUTHORS: Morais, Catarina Granjo; Quental, Rita; Lourenco, Lara; Guardiano, Micaela; Silva, Carmen; Leao, Miguel;
PUBLISHED: 2023, SOURCE: EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS, VOLUME: 24, ISSUE: 1
INDEXED IN: 
Scopus 
WOS
Scopus WOS5
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 WOS6
TITLE: Development of pH-Sensitive Magnetoliposomes Containing Shape Anisotropic Nanoparticles for Potential Application in Combined Cancer Therapy
AUTHORS: Pacheco, Ana Rita F.; Cardoso, Beatriz D.; Pires, Ana; Pereira, Andre M. ; Araujo, Joao P. ; Carvalho, Violeta M. ; Rodrigues, Raquel O. ; Coutinho, Paulo J. G.; Castelo Grande, Teresa; Augusto, Paulo A.; Barbosa, Domingos ; Lima, Rui A. ; S F C F Teixeira ; Rodrigues, Ana Rita O.; Castanheira, Elisabete M. S.;
PUBLISHED: 2023, SOURCE: NANOMATERIALS, VOLUME: 13, ISSUE: 6
AUTHORS: Pacheco, Ana Rita F.; Cardoso, Beatriz D.; Pires, Ana; Pereira, Andre M. ; Araujo, Joao P. ; Carvalho, Violeta M. ; Rodrigues, Raquel O. ; Coutinho, Paulo J. G.; Castelo Grande, Teresa; Augusto, Paulo A.; Barbosa, Domingos ; Lima, Rui A. ; S F C F Teixeira ; Rodrigues, Ana Rita O.; Castanheira, Elisabete M. S.;
PUBLISHED: 2023, SOURCE: NANOMATERIALS, VOLUME: 13, ISSUE: 6
7
TITLE: A NOVEL HOMOZYGOUS DELETION IN CCDC32 GENE CAUSING CARDIOFACIO- NEURODEVELOPMENTAL SYNDROME Full Text
AUTHORS: Quental, Rita; Grangeia, Ana; Moura, Carla Pinto;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Quental, Rita; Grangeia, Ana; Moura, Carla Pinto;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
WOS8
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
WOS9
TITLE: COPY NUMBER VARIATIONS ON CHROMOSOME X AND IMPACT IN NEURODEVELOPMENT DISORDERS Full Text
AUTHORS: Martins, Tiago; Quental, Rita; Almeida, Carolina; Doria, Sofia;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Martins, Tiago; Quental, Rita; Almeida, Carolina; Doria, Sofia;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
WOS10
TITLE: Heart defects, oral clefts, and polydactyly caused by novel compound heterozygous variants in WDPCP gene involved in ciliogenesis Full Text
AUTHORS: Ferreira Pacheco Quental, Ana Rita; Mariz, Carlos; Ramalho, Carla; Freixo, Joao Parente; Louro, Pedro; Leao, Miguel;
PUBLISHED: 2023, SOURCE: 55th European-Society-of-Human-Genetics (ESHG) Conference in EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 31
AUTHORS: Ferreira Pacheco Quental, Ana Rita; Mariz, Carlos; Ramalho, Carla; Freixo, Joao Parente; Louro, Pedro; Leao, Miguel;
PUBLISHED: 2023, SOURCE: 55th European-Society-of-Human-Genetics (ESHG) Conference in EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 31
INDEXED IN: WOS
WOS