Found: 7

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  • Genetics of personalized medicine: cancer and rare diseases.

    Published in:
    Cellular Oncology (2211-3428), 2018, v. 41, n. 3, p. 335, doi. 10.1007/s13402-018-0379-3
    By:
    • Alves, Inês Teles Siefers;
    • Condinho, Manuel;
    • Custódio, Sónia;
    • Pereira, Bruna F.;
    • Fernandes, Rafael;
    • Gonçalves, Vânia;
    • da Costa, Paulo J.;
    • Lacerda, Rafaela;
    • Marques, Ana Rita;
    • Martins-Dias, Patrícia;
    • Nogueira, Gonçalo R.;
    • Neves, Ana Rita;
    • Pinho, Patrícia;
    • Rodrigues, Raquel;
    • Rolo, Eva;
    • Silva, Joana;
    • Travessa, André;
    • Leite, Rosário Pinto;
    • Sousa, Ana;
    • Romão, Luísa
    Publication type:
    Article

  • High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.

    Published in:
    European Journal of Endocrinology, 2021, v. 185, n. 5, p. 691, doi. 10.1530/EJE-21-0557
    By:
    • 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.;
    • de Buitrago Amigo, Jesús González;
    • del Pozo, Angela
    Publication type:
    Article

  • Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2020, v. 105, n. 8, p. 1, doi. 10.1210/clinem/dgaa218
    By:
    • 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;
    • del Pozo, Jaime Sánchez;
    • Garzón-Lorenzo, Lucía;
    • Martos-Moreno, Gabriel A.;
    • Alfaro-Iznaola, Cristina
    Publication type:
    Article

  • Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.

    Published in:
    2020
    By:
    • Sentchordi-Montané, Lucía;
    • Benito-Sanz, Sara;
    • Aza-Carmona, Miriam;
    • Pereda, Arrate;
    • Parrón, 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
    Publication type:
    journal article

  • Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).

    Published in:
    Human Genetics, 2020, v. 139, n. 10, p. 1325, doi. 10.1007/s00439-020-02176-w
    By:
    • Tucker, Elena J.;
    • Rius, Rocio;
    • Jaillard, Sylvie;
    • Bell, Katrina;
    • Lamont, Phillipa J.;
    • Travessa, André;
    • Dupont, Juliette;
    • Sampaio, Lurdes;
    • Dulon, Jérôme;
    • Vuillaumier-Barrot, Sandrine;
    • Whalen, Sandra;
    • Isapof, Arnaud;
    • Stojkovic, Tanya;
    • Quijano-Roy, Susana;
    • Robevska, Gorjana;
    • van den Bergen, Jocelyn;
    • Hanna, Chloe;
    • Simpson, Andrea;
    • Ayers, Katie;
    • Thorburn, David R.
    Publication type:
    Article

  • Precocious puberty and anal stenosis in an African patient with Rothmund–Thomson syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 280, doi. 10.1002/ajmg.a.62980
    By:
    • Lorenzo, Cristina;
    • Travessa, André M.;
    • Ferreira, Ana Cristóvão;
    • Modamio‐Høybjør, Silvia;
    • Heath, Karen E.;
    • Pereira, Carla
    Publication type:
    Article

  • Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2715, doi. 10.1002/ajmg.a.61817
    By:
    • Travessa, André M.;
    • Díaz‐González, Francisca;
    • Mirco, Teresa;
    • Oliveira‐Ramos, Filipa;
    • Parrón‐Pajares, Manuel;
    • Heath, Karen E.;
    • Sousa, Ana Berta
    Publication type:
    Article