Precocious puberty and anal stenosis in an African patient with Rothmund–Thomson syndrome
Lorenzo, Cristina, Travessa, André, Ferreira, Ana Cristóvão, Modamio‐Høybjør, Silvia, Heath, Karen E., Pereira, Carla
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
Upper limb phocomelia: A prenatal case of thrombocytopenia-absent radius (TAR) syndrome illustrating the importance of chromosomal microarray in limb reduction defects
Travessa, André M., Dias, Patrícia, Santos, Antónia, Custódio, Sónia, Sousa, Ana, Sousa, Ana Berta
Published in Taiwanese journal of obstetrics & gynecology (01.03.2020)
Published in Taiwanese journal of obstetrics & gynecology (01.03.2020)
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Journal Article
Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant
Travessa, André M., Dias, Patrícia, Rosmaninho-Salgado, Joana, Aza-Carmona, Miriam, Moldovan, Oana, Díaz‐González, Francisca, Godinho, Fátima, Romeu, José Carlos, Oliveira-Ramos, Filipa, do Céu Barreiros, Maria, Sousa, Sérgio B., Heath, Karen E., Sousa, Ana Berta
Published in European journal of medical genetics (01.11.2023)
Published in European journal of medical genetics (01.11.2023)
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Journal Article
Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice
Semler, Oliver, Cormier-Daire, Valérie, Lausch, Ekkehart, Bober, Michael B., Carroll, Ricki, Sousa, Sérgio B., Deyle, David, Faden, Maha, Hartmann, Gabriele, Huser, Aaron J., Legare, Janet M., Mohnike, Klaus, Rohrer, Tilman R., Rutsch, Frank, Smith, Pamela, Travessa, Andre M., Verardo, Angela, White, Klane K., Wilcox, William R., Hoover-Fong, Julie
Published in Advances in therapy (2024)
Published in Advances in therapy (2024)
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Journal Article
Vasodilators in acute heart failure - evidence based on new studies
Travessa, André M., Menezes Falcão, L.
Published in European journal of internal medicine (01.05.2018)
Published in European journal of internal medicine (01.05.2018)
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Journal Article
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies
Sentchordi-Montané, Lucía, Benito-Sanz, Sara, Aza-Carmona, Miriam, Díaz-González, Francisca, Modamio-Høybjør, Silvia, de la Torre, Carolina, Nevado, Julián, Ruiz-Ocaña, Pablo, Bezanilla-López, Carolina, Prieto, Pablo, Bahíllo-Curieses, Pilar, Carcavilla, Atilano, Mulero-Collantes, Inés, Barreda-Bonis, Ana C, Cruz-Rojo, Jaime, Ramírez-Fernández, Joaquín, Bermúdez de la Vega, José Antonio, Travessa, André M, González de Buitrago Amigo, Jesús, del Pozo, Angela, Vallespín, Elena, Solís, Mario, Goetz, Carlos, Campos-Barros, Ángel, Santos-Simarro, Fernando, González-Casado, Isabel, Ros-Pérez, Purificación, Parrón-Pajares, Manuel, Heath, Karen E
Published in European journal of endocrinology (01.11.2021)
Published in European journal of endocrinology (01.11.2021)
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Journal Article
Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants
Sentchordi-Montané, Lucía, Benito-Sanz, Sara, Aza-Carmona, Miriam, Pereda, Arrate, Parrón-Pajares, Manuel, de la Torre, Carolina, Vasques, Gabriela A, Funari, Mariana F A, Travessa, André M, Dias, Patrícia, Suarez-Ortega, Larisa, González-Buitrago, Jesús, Portillo-Najera, Nancy Elizabeth, Llano-Rivas, Isabel, Martín-Frías, María, Ramírez-Fernández, Joaquín, Sánchez Del Pozo, Jaime, Garzón-Lorenzo, Lucía, Martos-Moreno, Gabriel A, Alfaro-Iznaola, Cristina, Mulero-Collantes, Inés, Ruiz-Ocaña, Pablo, Casano-Sancho, Paula, Portela, Ana, Ruiz-Pérez, Lorea, Del Pozo, Angela, Vallespín, Elena, Solís, Mario, Lerario, Antônio M, González-Casado, Isabel, Ros-Pérez, Purificación, Pérez de Nanclares, Guiomar, Jorge, Alexander A L, Heath, Karen E
Published in The journal of clinical endocrinology and metabolism (01.08.2020)
Published in The journal of clinical endocrinology and metabolism (01.08.2020)
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Journal Article
Uniparental Disomy as a Mechanism for Combined Oxidative Phosphorylation Deficiency Associated with MRPS34 Gene
Soares, Marta P, Travessa, André M, Custódio, Sónia, Pereira, Carla, Pinto, Patrícia, Sousa, Ana Berta
Published in Endocrine, metabolic & immune disorders drug targets (12.01.2024)
Published in Endocrine, metabolic & immune disorders drug targets (12.01.2024)
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Journal Article
Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy
Travessa, André M., Díaz‐González, Francisca, Mirco, Teresa, Oliveira‐Ramos, Filipa, Parrón‐Pajares, Manuel, Heath, Karen E., Sousa, Ana Berta
Published in American journal of medical genetics. Part A (01.11.2020)
Published in American journal of medical genetics. Part A (01.11.2020)
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Journal Article
Precocious puberty and anal stenosis in an African patient with Rothmund-Thomson syndrome
Lorenzo, Cristina, Travessa, André M, Ferreira, Ana Cristóvão, Modamio-Høybjør, Silvia, Heath, Karen E, Pereira, Carla
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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Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy
Travessa, André M, Díaz-González, Francisca, Mirco, Teresa, Oliveira-Ramos, Filipa, Parrón-Pajares, Manuel, Heath, Karen E, Sousa, Ana Berta
Published in American journal of medical genetics. Part A (01.11.2020)
Published in American journal of medical genetics. Part A (01.11.2020)
Get full text
Report