Maria do Rosário Neto dos Santos
AuthID: R-00H-H5E
1
TITLE: A new case of platelet-type von Willebrand disease supports the recent findings of gain-of-function GP1BA variants outside the C-terminal disulphide loop enhances affinity for von Willebrand factor Full Text
AUTHORS: Monteiro, Catarina; Goncalves, Ana ; Pereira, Monica; Lau, Catarina; Morais, Sara; Santos, Rosario;
PUBLISHED: 2023, SOURCE: BRITISH JOURNAL OF HAEMATOLOGY, VOLUME: 203, ISSUE: 4
AUTHORS: Monteiro, Catarina; Goncalves, Ana ; Pereira, Monica; Lau, Catarina; Morais, Sara; Santos, Rosario;
PUBLISHED: 2023, SOURCE: BRITISH JOURNAL OF HAEMATOLOGY, VOLUME: 203, ISSUE: 4
2
TITLE: Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder? Full Text
AUTHORS: Maia, N ; Sa, MJN; Cláudia Oliveira ; Santos, F; Soares, CA; Prior, C; Tkachenko, N; Santos, R; de Brouwer, APM; Jacome, A; Porto, B; Jorge, P;
PUBLISHED: 2022, SOURCE: GENES, VOLUME: 13, ISSUE: 1
AUTHORS: Maia, N ; Sa, MJN; Cláudia Oliveira ; Santos, F; Soares, CA; Prior, C; Tkachenko, N; Santos, R; de Brouwer, APM; Jacome, A; Porto, B; Jorge, P;
PUBLISHED: 2022, SOURCE: GENES, VOLUME: 13, ISSUE: 1
3
TITLE: Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (DMD) Full Text
AUTHORS: Goncalves, A ; Fortuna, A; Ariyurek, Y; Oliveira, ME ; Nadais, G; Pinheiro, J; den Dunnen, JT; Sousa, M ; Oliveira, J ; Santos, R;
PUBLISHED: 2022, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 23, ISSUE: 1
AUTHORS: Goncalves, A ; Fortuna, A; Ariyurek, Y; Oliveira, ME ; Nadais, G; Pinheiro, J; den Dunnen, JT; Sousa, M ; Oliveira, J ; Santos, R;
PUBLISHED: 2022, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 23, ISSUE: 1
4
TITLE: Use of the FMR1 Gene Methylation Status to Assess the X-Chromosome Inactivation Pattern: A Stepwise Analysis Full Text
AUTHORS: Rodrigues, Barbara ; Goncalves, Ana ; Sousa, Vanessa; Maia, Nuno ; Marques, Isabel ; Vale Fernandes, Emidio ; Santos, Rosario; Nogueira, Antonio J. A.; Jorge, Paula;
PUBLISHED: 2022, SOURCE: GENES, VOLUME: 13, ISSUE: 3
AUTHORS: Rodrigues, Barbara ; Goncalves, Ana ; Sousa, Vanessa; Maia, Nuno ; Marques, Isabel ; Vale Fernandes, Emidio ; Santos, Rosario; Nogueira, Antonio J. A.; Jorge, Paula;
PUBLISHED: 2022, SOURCE: GENES, VOLUME: 13, ISSUE: 3
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TITLE: Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles Full Text
AUTHORS: Monteiro, Catarina; Goncalves, Ana ; Oliveira, Jorge; Salvado, Ramon; Tomaz, Jorge; Morais, Sara; Lima, Margarida; Santos, Rosario;
PUBLISHED: 2022, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 23, ISSUE: 17
AUTHORS: Monteiro, Catarina; Goncalves, Ana ; Oliveira, Jorge; Salvado, Ramon; Tomaz, Jorge; Morais, Sara; Lima, Margarida; Santos, Rosario;
PUBLISHED: 2022, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 23, ISSUE: 17
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TITLE: Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes
AUTHORS: Nuno Maia; Nekane Ibarluzea; Mala Misra‐Isrie; Daniel C Koboldt; Isabel Marques; Gabriela Soares; Rosário Santos; Carlo L M Marcelis; Riikka Keski‐Filppula; Miriam Guitart; Elisabeth Gabau Vila; April Lehman; Scott Hickey; Mari Mori; Paulien Terhal; Irene Valenzuela; Amaia Lasa‐Aranzasti; Anna Maria Cueto‐González; Brian H Chhouk; Rebecca C Yeh; ...More
PUBLISHED: 2022, SOURCE: American Journal of Medical Genetics Part A, VOLUME: 191, ISSUE: 1
AUTHORS: Nuno Maia; Nekane Ibarluzea; Mala Misra‐Isrie; Daniel C Koboldt; Isabel Marques; Gabriela Soares; Rosário Santos; Carlo L M Marcelis; Riikka Keski‐Filppula; Miriam Guitart; Elisabeth Gabau Vila; April Lehman; Scott Hickey; Mari Mori; Paulien Terhal; Irene Valenzuela; Amaia Lasa‐Aranzasti; Anna Maria Cueto‐González; Brian H Chhouk; Rebecca C Yeh; ...More
PUBLISHED: 2022, SOURCE: American Journal of Medical Genetics Part A, VOLUME: 191, ISSUE: 1
7
TITLE: NOVEL GENOTYPIC AND PHENOTYPIC FEATURES OF CCDC22-RELATED RITSCHER- SCHINZEL SYNDROME Full Text
AUTHORS: Maia, N; Fortuna, AM; Damasio, J; Santos, R; Melo Pires, M; de Brouwer, APM; Jorge, P;
PUBLISHED: 2021, SOURCE: 24th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 100, ISSUE: 4
AUTHORS: Maia, N; Fortuna, AM; Damasio, J; Santos, R; Melo Pires, M; de Brouwer, APM; Jorge, P;
PUBLISHED: 2021, SOURCE: 24th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 100, ISSUE: 4
INDEXED IN: 
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ORCID8
TITLE: EFFECT OF FMR1 ALLELIC COMPLEXITY COMBINATIONS IN X-CHROMOSOME INACTIVATION SKEWING: TESTS ON COHORTS OF INFERTILE FEMALES AND OOCYTE DONORS Full Text
AUTHORS: Rodrigues, B; Vale Fernandes, E; Maia, N; Santos, F; Marques, I; Santos, R; Nogueira, AJA; Jorge, P;
PUBLISHED: 2021, SOURCE: 24th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 100, ISSUE: 4
AUTHORS: Rodrigues, B; Vale Fernandes, E; Maia, N; Santos, F; Marques, I; Santos, R; Nogueira, AJA; Jorge, P;
PUBLISHED: 2021, SOURCE: 24th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 100, ISSUE: 4
INDEXED IN: WOS
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TITLE: CalDAG-GEFI Deficiency in a Family with Symptomatic Heterozygous and Homozygous Carriers of a Likely Pathogenic Variant in RASGRP2 Full Text
AUTHORS: Morais, Sara; Pereira, Monica; Lau, Catarina ; Goncalves, Ana ; Monteiro, Catarina; Goncalves, Marta; Oliveira, Jorge ; Moreira, Lurdes; Cruz, Eugenia; Santos, Rosario; Lima, Margarida ;
PUBLISHED: 2021, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 22, ISSUE: 22
AUTHORS: Morais, Sara; Pereira, Monica; Lau, Catarina ; Goncalves, Ana ; Monteiro, Catarina; Goncalves, Marta; Oliveira, Jorge ; Moreira, Lurdes; Cruz, Eugenia; Santos, Rosario; Lima, Margarida ;
PUBLISHED: 2021, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 22, ISSUE: 22
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TITLE: EMQN best practice guidelines for genetic testing in dystrophinopathies
AUTHORS: Carl Fratter; Raymond Dalgleish; Stephanie K Allen; Rosario Santos; Stephen Abbs; Sylvie Tuffery Giraud; Alessandra Ferlini;
PUBLISHED: 2020, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 28, ISSUE: 9
AUTHORS: Carl Fratter; Raymond Dalgleish; Stephanie K Allen; Rosario Santos; Stephen Abbs; Sylvie Tuffery Giraud; Alessandra Ferlini;
PUBLISHED: 2020, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 28, ISSUE: 9
INDEXED IN: 
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