Fabiana Viana Ramos
AuthID: R-002-RP9
1
TITLE: TEMPLE SYNDROME BY 14(Q32) DELETION DETECTED PRENATALLY BY ARRAY-CGH Full Text
AUTHORS: Sá, Susana I ; Pires, Luis Miguel; Val, Mariana; Mascarenhas, Alexandra; Oliveira, Daniela; Ramos, Fabiana; Carreira, Isabel Marques; de Melo, Joana Barbosa;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Sá, Susana I ; Pires, Luis Miguel; Val, Mariana; Mascarenhas, Alexandra; Oliveira, Daniela; Ramos, Fabiana; Carreira, Isabel Marques; de Melo, Joana Barbosa;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: 
WOS
WOS2
TITLE: Variable expressivity of 22q11.2 microduplications: an investigation of 13 cases toward a phenotype-genotype correlation
AUTHORS: Matoso, Eunice; Estevinho, Alexandra; Ferreira, Susana I.; Pires, Luis M.; Melo, Joana B.; Ramos, Fabiana; Ramos, Lina; Saraiva, Jorge M.; Carreira, Isabel M.;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
AUTHORS: Matoso, Eunice; Estevinho, Alexandra; Ferreira, Susana I.; Pires, Luis M.; Melo, Joana B.; Ramos, Fabiana; Ramos, Lina; Saraiva, Jorge M.; Carreira, Isabel M.;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
WOS3
TITLE: MATERNAL DELETION ENCOMPASSING EXONS 4 TO 7 OF THE UBE3A GENE IN A FAMILY WITH ANGELMAN SYNDROME CONFIRMED BY MLPA Full Text
AUTHORS: Pires, Luis Miguel; Ferreira, Susana I.; Val, Mariana; Ramos, Fabiana; Sa, Joaquim; Sousa, Sergio; Melo, Joana B.; Carreira, Isabel M.;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Pires, Luis Miguel; Ferreira, Susana I.; Val, Mariana; Ramos, Fabiana; Sa, Joaquim; Sousa, Sergio; Melo, Joana B.; Carreira, Isabel M.;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
WOS4
TITLE: THE IMPRINTED ODDS IN A FAMILY WITH MAGEL2 PATHOGENIC VARIANT Full Text
AUTHORS: Catanho, Joana A.; Ramos, Fabiana; Cruz, Jader; Cohen, Alvaro; Carvalho, Ines S. ;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Catanho, Joana A.; Ramos, Fabiana; Cruz, Jader; Cohen, Alvaro; Carvalho, Ines S. ;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
WOS5
TITLE: HOMOZYGOUS DELETION OF THE PRODH GENE RELATED TO TYPE I HYPERPROLINEMIA Full Text
AUTHORS: Veiga, Pedro; Ferreira, Susana I.; Val, Mariana; Ramos, Fabiana; Carreira, Isabel M.; Melo, Joana B.;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Veiga, Pedro; Ferreira, Susana I.; Val, Mariana; Ramos, Fabiana; Carreira, Isabel M.; Melo, Joana B.;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
WOS6
TITLE: KBG SYNDROME IN THE PORTUGUESE POPULATION: CLINICAL AND MOLECULAR CHARACTERIZATION OF 41 PATIENTS Full Text
AUTHORS: Neves, Mariana Tomasio; Dias, Patricia; Louro, Pedro ; Rosas, Catarina; Fernandes, Sofia; Abreu, Maria; Ferreira, Susana; Melo, Mafalda; Moldovan, Oana; Dupont, Juliette; Travessa, Andre; Alves, Joao Rodrigues; Medeira, Ana; Cordeiro, Isabel; Santos, Heloisa; Almeida, Pedro Maia; Sa, Joaquim; Ramos, Fabiana; Carvalho, Ana Luisa; Sousa, Sergio; ...More
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Neves, Mariana Tomasio; Dias, Patricia; Louro, Pedro ; Rosas, Catarina; Fernandes, Sofia; Abreu, Maria; Ferreira, Susana; Melo, Mafalda; Moldovan, Oana; Dupont, Juliette; Travessa, Andre; Alves, Joao Rodrigues; Medeira, Ana; Cordeiro, Isabel; Santos, Heloisa; Almeida, Pedro Maia; Sa, Joaquim; Ramos, Fabiana; Carvalho, Ana Luisa; Sousa, Sergio; ...More
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
WOS7
TITLE: A serious and unusual presentation of congenital isolated ACTH deficiency due to TBX19 mutation, beyond the neonatal period
AUTHORS: Vieira, Ines Henriques; Mourinho Bala, Nadia; Ramos, Fabiana; Dinis, Isabel; Cardoso, Rita; Caetano, Joana Serra; Rodrigues, Dircea; Paiva, Isabel; Mirante, Alice;
PUBLISHED: 2022, SOURCE: ENDOCRINOLOGY DIABETES AND METABOLISM CASE REPORTS, VOLUME: 2022, ISSUE: 1
AUTHORS: Vieira, Ines Henriques; Mourinho Bala, Nadia; Ramos, Fabiana; Dinis, Isabel; Cardoso, Rita; Caetano, Joana Serra; Rodrigues, Dircea; Paiva, Isabel; Mirante, Alice;
PUBLISHED: 2022, SOURCE: ENDOCRINOLOGY DIABETES AND METABOLISM CASE REPORTS, VOLUME: 2022, ISSUE: 1
INDEXED IN: 
Scopus WOS
Scopus WOS8
TITLE: Paternal pericentric inversion of chromosome 4 and three recombinants in the offspring - Structural Variation of Human Genome Full Text
AUTHORS: Alexandra Mascarenhas; Luis Miguel Pires; Fabiana Ramos; Marta Pinto; Patricia Paiva; Joana Barbosa de Melo; Isabel Marques Carreira;
PUBLISHED: 2020, SOURCE: CIMAGO Meeting - Challenges in Oncobiology in MEDICINE, VOLUME: 99, ISSUE: 23
AUTHORS: Alexandra Mascarenhas; Luis Miguel Pires; Fabiana Ramos; Marta Pinto; Patricia Paiva; Joana Barbosa de Melo; Isabel Marques Carreira;
PUBLISHED: 2020, SOURCE: CIMAGO Meeting - Challenges in Oncobiology in MEDICINE, VOLUME: 99, ISSUE: 23
INDEXED IN: WOS
WOS9
TITLE: A familial case with a ZMYND11 mutation: syndromic intellectual disability with a recognizable phenotype Full Text
AUTHORS: Pedro M Almeida; Fabiana Ramos; Jorge Saraiva;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
AUTHORS: Pedro M Almeida; Fabiana Ramos; Jorge Saraiva;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
WOS10
TITLE: Cockayne Syndrome: a new phenotype related to a already described variant Full Text
AUTHORS: Pedro M Almeida; Sara M Ribeiro; Isabel Monteiro; Fabiana Ramos; Jorge Saraiva; Lina Ramos;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
AUTHORS: Pedro M Almeida; Sara M Ribeiro; Isabel Monteiro; Fabiana Ramos; Jorge Saraiva; Lina Ramos;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
WOS