EMQN best practice guidelines for genetic testing in dystrophinopathies
Fratter, Carl, Dalgleish, Raymond, Allen, Stephanie K, Santos, Rosário, Abbs, Stephen, Tuffery-Giraud, Sylvie, Ferlini, Alessandra
Published in European journal of human genetics : EJHG (01.09.2020)
Published in European journal of human genetics : EJHG (01.09.2020)
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Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles
Monteiro, Catarina, Gonçalves, Ana, Oliveira, Jorge, Salvado, Ramon, Tomaz, Jorge, Morais, Sara, Lima, Margarida, Santos, Rosário
Published in International journal of molecular sciences (01.09.2022)
Published in International journal of molecular sciences (01.09.2022)
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Journal Article
Biological Activities of Bismuth Compounds: An Overview of the New Findings and the Old Challenges Not Yet Overcome
Rosário, Jânia Dos Santos, Moreira, Fábio Henrique, Rosa, Lara Hewilin Fernandes, Guerra, Wendell, Silva-Caldeira, Priscila Pereira
Published in Molecules (Basel, Switzerland) (01.08.2023)
Published in Molecules (Basel, Switzerland) (01.08.2023)
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Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene ( DMD )
Gonçalves, Ana, Fortuna, Ana, Ariyurek, Yavuz, Oliveira, Márcia E, Nadais, Goreti, Pinheiro, Jorge, den Dunnen, Johan T, Sousa, Mário, Oliveira, Jorge, Santos, Rosário
Published in International journal of molecular sciences (01.01.2022)
Published in International journal of molecular sciences (01.01.2022)
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Journal Article
Periodontitis severity relationship with metabolic syndrome: A systematic review with meta‐analysis
Rosário‐dos‐Santos, Heloísa Laís, Miranda, Samilly Silva, Gomes‐Filho, Isaac Suzart, Cruz, Simone Seixas da, Figueiredo, Ana Claudia Morais Godoy, Souza, Elivan Silva, Hintz, Alexandre Marcelo, Loomer, Peter Michael, Passos‐Soares, Johelle de Santana
Published in Oral diseases (01.10.2023)
Published in Oral diseases (01.10.2023)
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Journal Article
CalDAG-GEFI Deficiency in a Family with Symptomatic Heterozygous and Homozygous Carriers of a Likely Pathogenic Variant in RASGRP2
Morais, Sara, Pereira, Mónica, Lau, Catarina, Gonçalves, Ana, Monteiro, Catarina, Gonçalves, Marta, Oliveira, Jorge, Moreira, Lurdes, Cruz, Eugénia, Santos, Rosário, Lima, Margarida
Published in International journal of molecular sciences (17.11.2021)
Published in International journal of molecular sciences (17.11.2021)
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Journal Article
αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum
Morais, Sara, Oliveira, Jorge, Lau, Catarina, Pereira, Mónica, Gonçalves, Marta, Monteiro, Catarina, Gonçalves, Ana Rita, Matos, Rui, Sampaio, Marco, Cruz, Eugénia, Freitas, Inês, Santos, Rosário, Lima, Margarida
Published in PloS one (04.12.2020)
Published in PloS one (04.12.2020)
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Journal Article
Clinical and Genetic Analysis of Children with Kartagener Syndrome
Pereira, Rute, Barbosa, Telma, Gales, Luís, Oliveira, Elsa, Santos, Rosário, Oliveira, Jorge, Sousa, Mário
Published in Cells (Basel, Switzerland) (15.08.2019)
Published in Cells (Basel, Switzerland) (15.08.2019)
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Journal Article
Development and Validation of a Mathematical Model to Predict the Complexity of FMR1 Allele Combinations
Rodrigues, Bárbara, Vale-Fernandes, Emídio, Maia, Nuno, Santos, Flávia, Marques, Isabel, Santos, Rosário, Nogueira, António J. A., Jorge, Paula
Published in Frontiers in genetics (13.11.2020)
Published in Frontiers in genetics (13.11.2020)
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Journal Article
Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene
Gonçalves, Ana, Oliveira, Jorge, Coelho, Teresa, Taipa, Ricardo, Melo-Pires, Manuel, Sousa, Mário, Santos, Rosário
Published in Genes (03.10.2017)
Published in Genes (03.10.2017)
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Journal Article
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes
Maia, Nuno, Ibarluzea, Nekane, Misra‐Isrie, Mala, Koboldt, Daniel C., Marques, Isabel, Soares, Gabriela, Santos, Rosário, Marcelis, Carlo L. M., Keski‐Filppula, Riikka, Guitart, Miriam, Gabau Vila, Elisabeth, Lehman, April, Hickey, Scott, Mori, Mari, Terhal, Paulien, Valenzuela, Irene, Lasa‐Aranzasti, Amaia, Cueto‐González, Anna Maria, Chhouk, Brian H., Yeh, Rebecca C., Neil, Jennifer E., Abu‐Libde, Bassam, Kleefstra, Tjitske, Elting, Mariet W., Császár, Andrea, Kárteszi, Judit, Bessenyei, Beáta, Bokhoven, Hans, Jorge, Paula, Hagen, Johanna M., Brouwer, Arjan P. M.
Published in American journal of medical genetics. Part A (01.01.2023)
Published in American journal of medical genetics. Part A (01.01.2023)
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Journal Article
Use of the FMR1 Gene Methylation Status to Assess the X-Chromosome Inactivation Pattern: A Stepwise Analysis
Rodrigues, Bárbara, Gonçalves, Ana, Sousa, Vanessa, Maia, Nuno, Marques, Isabel, Vale-Fernandes, Emídio, Santos, Rosário, Nogueira, António J A, Jorge, Paula
Published in Genes (25.02.2022)
Published in Genes (25.02.2022)
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Journal Article
Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies
Jorge, Paula, Garcia, Elsa, Gonçalves, Ana, Marques, Isabel, Maia, Nuno, Rodrigues, Bárbara, Santos, Helena, Fonseca, Jacinta, Soares, Gabriela, Correia, Cecília, Reis-Lima, Margarida, Cirigliano, Vincenzo, Santos, Rosário
Published in BMC medical genetics (10.05.2018)
Published in BMC medical genetics (10.05.2018)
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Journal Article
Men's Social Connectedness in Later Life: A Qualitative Study with Older Men
Pereira, Henrique, Silva, Patricia, Torre, Renata Della, Dos Santos, Marta Rosário, Moutinho, Adriana, Solinho, Sofia, Proença, Constança, Cabral, Joana, Santos, Ana Jorge
Published in Geriatrics (Basel) (01.04.2024)
Published in Geriatrics (Basel) (01.04.2024)
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Journal Article
Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20
Maia, Nuno, Soares, Gabriela, Silva, Cecília, Marques, Isabel, Rodrigues, Bárbara, Santos, Rosário, Melo-Pires, Manuel, de Brouwer, Arjan PM, Temudo, Teresa, Jorge, Paula
Published in Frontiers in genetics (24.09.2020)
Published in Frontiers in genetics (24.09.2020)
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Journal Article
Atypical phenotype in two patients with LAMA2 mutations
Marques, Joana, Duarte, Sofia T, Costa, Sónia, Jacinto, Sandra, Oliveira, Jorge, Oliveira, Márcia E, Santos, Rosário, Bronze-da-Rocha, Elsa, Silvestre, Ana Rita, Calado, Eulália, Evangelista, Teresinha
Published in Neuromuscular disorders : NMD (01.05.2014)
Published in Neuromuscular disorders : NMD (01.05.2014)
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Journal Article
Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?
Maia, Nuno, Nabais Sá, Maria João, Oliveira, Cláudia, Santos, Flávia, Soares, Célia Azevedo, Prior, Catarina, Tkachenko, Nataliya, Santos, Rosário, de Brouwer, Arjan P M, Jacome, Ariana, Porto, Beatriz, Jorge, Paula
Published in Genes (28.12.2021)
Published in Genes (28.12.2021)
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