Alice Gomes Estrela Vasconcelos Marques


AuthID: R-002-JHR

Publications Awaiting Confirmation

1
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
INDEXED IN: WOS
2
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
INDEXED IN: WOS
3
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
INDEXED IN: Scopus WOS CrossRef
4
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
INDEXED IN: WOS
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