Alice Gomes Estrela Vasconcelos Marques
AuthID: R-002-JHR
1
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 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: NEW VARIANTS CAUSING OKUR-CHUNG SYNDROME AND MACROCEPHALY Full Text
AUTHORS: Vasconcelos, Alice P.; Castro Correia, Cintia ; Santos Silva, Rita; Campos, Teresa; Rodrigues, Esmeralda; Alonso, Isabel; Doria, Sofia; Oliveira, Renata;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Vasconcelos, Alice P.; Castro Correia, Cintia ; Santos Silva, Rita; Campos, Teresa; Rodrigues, Esmeralda; Alonso, Isabel; Doria, Sofia; Oliveira, Renata;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
WOS4
TITLE: Severe KIDAR syndrome caused by deletion in the AP1B1 gene: Report of a teenage patient and systematic review of the literature
AUTHORS: Vasconcelos, Alice P.; Nogueira, Ana; Matos, Pedro; Pinto, Joel; Pinho, Maria Joao; Fernandes, Susana; Doria, Sofia ; Carla Pinto Moura ;
PUBLISHED: 2023, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 66, ISSUE: 10
AUTHORS: Vasconcelos, Alice P.; Nogueira, Ana; Matos, Pedro; Pinto, Joel; Pinho, Maria Joao; Fernandes, Susana; Doria, Sofia ; Carla Pinto Moura ;
PUBLISHED: 2023, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 66, ISSUE: 10
5
TITLE: Adrenal carcinoma as the first manifestation of a Li-Fraumeni syndrome in three paediatric patients
AUTHORS: Mendonca, Fernando; Ferreira, Ana Bernardo; Pinto, Filipa; Vasconcelos, Alice; Ferreira, Sofia; Rodrigues, Elisabete; Castro Correia, Cintia ; Gil da Costa, Maria Joao; Bom Sucesso, Maria;
PUBLISHED: 2022, SOURCE: ENDOKRYNOLOGIA POLSKA, VOLUME: 73, ISSUE: 4
AUTHORS: Mendonca, Fernando; Ferreira, Ana Bernardo; Pinto, Filipa; Vasconcelos, Alice; Ferreira, Sofia; Rodrigues, Elisabete; Castro Correia, Cintia ; Gil da Costa, Maria Joao; Bom Sucesso, Maria;
PUBLISHED: 2022, SOURCE: ENDOKRYNOLOGIA POLSKA, VOLUME: 73, ISSUE: 4
INDEXED IN: WOS
WOS6
TITLE: The Impact of Chronic Pelvic lschemia on LUTS and Urinary Levels of Neuroinflammatory, Inflammatory, and Oxidative Stress Markers in Elderly Men: A Case-control Study Full Text
AUTHORS: Tiago Antunes Lopes ; Alice Vasconcelos; Daniel Costa; Ana Charrua ; Joao Neves ; Joao Silva ; Francisco Cruz ; Carlos Silva ;
PUBLISHED: 2019, SOURCE: UROLOGY, VOLUME: 123
AUTHORS: Tiago Antunes Lopes ; Alice Vasconcelos; Daniel Costa; Ana Charrua ; Joao Neves ; Joao Silva ; Francisco Cruz ; Carlos Silva ;
PUBLISHED: 2019, SOURCE: UROLOGY, VOLUME: 123
