Margarida Conceicao Reis Pedreira Lima
AuthID: R-002-9R6
1
TITLE: TANDEM TRIPLICATION 11p15.5-ICR1 (H19/IGF2) DETECTED BY ARRAY AND OPTICAL GENOME MAPPING IN A PRENATAL BECWITH-WIEDEMANN CASE
AUTHORS: Lloveras, Elisabet; Perez, Cristina; Mendez, Begona; Martin, Susana; Alves, Claudia; Reis Lima, Margarida;
PUBLISHED: 2023, SOURCE: CYTOGENETIC AND GENOME RESEARCH, VOLUME: 163, ISSUE: 1-2
AUTHORS: Lloveras, Elisabet; Perez, Cristina; Mendez, Begona; Martin, Susana; Alves, Claudia; Reis Lima, Margarida;
PUBLISHED: 2023, SOURCE: CYTOGENETIC AND GENOME RESEARCH, VOLUME: 163, ISSUE: 1-2
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: PRENATAL DIAGNOSIS OF A RECOMBINANT CHROMOSOME 11 RESULTING FROM PERICENTRIC INVERSION O PATERNAL ORIGIN Full Text
AUTHORS: Lopes, Mafalda; Lindo, Paula; Cadilhe, Alexandra; Goncalves Rocha, Miguel; Baltar, Fernanda; Azeredo, Ana; Trindade, Joana; Oliveira, Maria Joao; Correia, Cecilia; Alves, Claudia; Reis Lima, Margarida;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Lopes, Mafalda; Lindo, Paula; Cadilhe, Alexandra; Goncalves Rocha, Miguel; Baltar, Fernanda; Azeredo, Ana; Trindade, Joana; Oliveira, Maria Joao; Correia, Cecilia; Alves, Claudia; Reis Lima, Margarida;
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: CAKUT SPECTRUM: RENAL HYPODYSPLASIA/APLASIA TYPE 3 PRENATAL DIAGNOSIS ACHIEVED BY WES. CASE REPORT Full Text
AUTHORS: Garcia, Elsa; Castro, Lisandra; Conceicao, Ariana; Salgueiro, Natalia; Santos, Fernando; Pereira, Nuno; Cerveira, Isabel; Moreira, Marta; Mendes, Celia; Lima, Margarida Reis;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Garcia, Elsa; Castro, Lisandra; Conceicao, Ariana; Salgueiro, Natalia; Santos, Fernando; Pereira, Nuno; Cerveira, Isabel; Moreira, Marta; Mendes, Celia; Lima, Margarida Reis;
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: AUTOSOMAL DOMINANT TUBB3-RELATED DISORDER DETECTED IN A PRENATAL CASE. THE IMPORTANCE OF WES IN THE DIAGNOSTIC OF PRE-NATAL ANOMALIES Full Text
AUTHORS: Salgueiro, Natalia; Conceicao, Ariana; Castro, Lisandra; Moreira, Marta; Mendes, Celia; Garcia, Elsa; Cardoso, Marcia; Santos, Fernando; Pereira, Nuno; Cerveira, Isabel; Lima, Margarida R.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Salgueiro, Natalia; Conceicao, Ariana; Castro, Lisandra; Moreira, Marta; Mendes, Celia; Garcia, Elsa; Cardoso, Marcia; Santos, Fernando; Pereira, Nuno; Cerveira, Isabel; Lima, Margarida R.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
WOS5
TITLE: PARTIAL TRISOMY 8 IN MOSAIC DETECTED IN CGH-ARRAY AND CONFIRMED BY KARYOTYPE Full Text
AUTHORS: Trindade, Joana; Alves, Claudia; Ribeiro, Rita; Baltar, Fernanda; Lindo, Paula; Monteiro, Rita; Monteiro, Mafalda; Oliveira, Maria Joao; Correia, Cecilia; Reis Lima, Margarida;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Trindade, Joana; Alves, Claudia; Ribeiro, Rita; Baltar, Fernanda; Lindo, Paula; Monteiro, Rita; Monteiro, Mafalda; Oliveira, Maria Joao; Correia, Cecilia; Reis Lima, Margarida;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
WOS6
TITLE: Genomic imbalances defining novel intellectual disability associated loci Full Text
AUTHORS: Fatima Lopes; Fatima Torres; Gabriela Soares; Mafalda Barbosa; Joao Silva; Frederico Duque; Miguel Rocha; Joaquim Sa; Guiomar Oliveira; Maria Joao Sa ; Teresa Temudo; Susana Sousa; Carla Marques; Sofia Lopes; Catarina Gomes; Gisela Barros; Arminda Jorge; Felisbela Rocha; Cecilia Martins; Sandra Mesquita; ...More
PUBLISHED: 2019, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 14, ISSUE: 1
AUTHORS: Fatima Lopes; Fatima Torres; Gabriela Soares; Mafalda Barbosa; Joao Silva; Frederico Duque; Miguel Rocha; Joaquim Sa; Guiomar Oliveira; Maria Joao Sa ; Teresa Temudo; Susana Sousa; Carla Marques; Sofia Lopes; Catarina Gomes; Gisela Barros; Arminda Jorge; Felisbela Rocha; Cecilia Martins; Sandra Mesquita; ...More
PUBLISHED: 2019, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 14, ISSUE: 1
INDEXED IN: Scopus WOS
Scopus WOS7
TITLE: A New Case with Corpus Callosum Abnormalities, Microcephaly and Seizures Associated with a 2.3-Mb 1q43-q44 Deletion
AUTHORS: Elisabet Lloveras; Anna Canellas; Laura Barranco; Claudia Alves; Marta Vila Real; Vania Ventura; Daniel Fernandez; Begona Mendez; Meritxell Pique; Margarida Reis Lima; Cristina de la Iglesia; Nuria Palau; Marta Costa; Diana Yeste; Marc Auge; Cristina Perez;
PUBLISHED: 2019, SOURCE: CYTOGENETIC AND GENOME RESEARCH, VOLUME: 159, ISSUE: 3
AUTHORS: Elisabet Lloveras; Anna Canellas; Laura Barranco; Claudia Alves; Marta Vila Real; Vania Ventura; Daniel Fernandez; Begona Mendez; Meritxell Pique; Margarida Reis Lima; Cristina de la Iglesia; Nuria Palau; Marta Costa; Diana Yeste; Marc Auge; Cristina Perez;
PUBLISHED: 2019, SOURCE: CYTOGENETIC AND GENOME RESEARCH, VOLUME: 159, ISSUE: 3
INDEXED IN: Scopus WOS
Scopus WOS8
TITLE: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS Full Text
AUTHORS: Mafalda Barbosa; Bram Perdu; Virgilio Senra; Filipe Macedo ; Wim Van Hul; Margarida Reis Lima; Jorge Pinto Basto;
PUBLISHED: 2010, SOURCE: ACTA MEDICA PORTUGUESA, VOLUME: 23, ISSUE: 6
AUTHORS: Mafalda Barbosa; Bram Perdu; Virgilio Senra; Filipe Macedo ; Wim Van Hul; Margarida Reis Lima; Jorge Pinto Basto;
PUBLISHED: 2010, SOURCE: ACTA MEDICA PORTUGUESA, VOLUME: 23, ISSUE: 6
INDEXED IN: Scopus WOS
Scopus WOS9
TITLE: Development of NIPBL Locus-Specific Database Using LOVD: From Novel Mutations to Further Genotype-Phenotype Correlations in Cornelia de Lange Syndrome Full Text
AUTHORS: Jorge Oliveira; Cristina Dias; Egbert Redeker; Eurico Costa; Joao Silva; Margarida Reis Lima; Johan T den Dunnen; Rosario Santos;
PUBLISHED: 2010, SOURCE: HUMAN MUTATION, VOLUME: 31, ISSUE: 11
AUTHORS: Jorge Oliveira; Cristina Dias; Egbert Redeker; Eurico Costa; Joao Silva; Margarida Reis Lima; Johan T den Dunnen; Rosario Santos;
PUBLISHED: 2010, SOURCE: HUMAN MUTATION, VOLUME: 31, ISSUE: 11
10
TITLE: Osteopathia Striata With Cranial Sclerosis Owing to WTX Gene Defect Full Text
AUTHORS: Bram Perdu; Fenna de Freitas; Suzanne G M Frints; Meyke Schouten; Connie Schrander Stumpel; Mafalda Barbosa; Jorge Pinto Basto; Margarida Reis Lima; Marie Christine de Vernejoul; Kristin Becker; Marie Louise Freckmann; Kathlijn Keymolen; Eric Haan; Ravi Savarirayan; Rainer Koenig; Bernhard Zabel; Filip M Vanhoenacker; Wim Van Hul;
PUBLISHED: 2010, SOURCE: JOURNAL OF BONE AND MINERAL RESEARCH, VOLUME: 25, ISSUE: 1
AUTHORS: Bram Perdu; Fenna de Freitas; Suzanne G M Frints; Meyke Schouten; Connie Schrander Stumpel; Mafalda Barbosa; Jorge Pinto Basto; Margarida Reis Lima; Marie Christine de Vernejoul; Kristin Becker; Marie Louise Freckmann; Kathlijn Keymolen; Eric Haan; Ravi Savarirayan; Rainer Koenig; Bernhard Zabel; Filip M Vanhoenacker; Wim Van Hul;
PUBLISHED: 2010, SOURCE: JOURNAL OF BONE AND MINERAL RESEARCH, VOLUME: 25, ISSUE: 1
