Navegação por Assunto "MLPA"

Resultados 1-2 de 2

    • Genomic rearrangements in BRCA1 and BRCA2 : a literature review 

      Ewald, Ingrid Petroni; Ribeiro, Patrícia Lisbôa Izetti; Palmero, Edenir Inêz; Cossio, Silvia Liliana; Giugliani, Roberto; Prolla, Patrícia Ashton (2009) [Artigo de periódico]
      Women with mutations in the breast cancer genes BRCA1 or BRCA2 have an increased lifetime risk of developing breast, ovarian and other BRCA-associated cancers. However, the number of detected germline mutations in families ...

    • Neonatal screening for spinal muscular atrophy : a pilot study in Brazil 

      Netto, Alice Brinckmann Oliveira; Facchin, Ana Carolina Brusius; Lemos, Júlia Feltraco; Brasil, Carolina Serpa; Trapp, Franciele Barbosa; Saute, Jonas Alex Morales; Donis, Karina Carvalho; Becker, Michele Michelin; Wiest, Paloma; Coutinho, Vivian de Lima Spode; Castro, Simone Martins de; Ferreira, Juliana de Jesus Guimarães; Silveira, Cynthia; Bittar, Maria Fernanda Ribeiro; Wang, Cristina; Lana, Janaina M.; França Júnior, Marcondes Cavalcante; Giugliani, Roberto (2023) [Artigo de periódico]
      Spinal muscular atrophy (SMA) is considered one of the most common autosomal recessive disorders, with an estimated incidence of 1 in 10,000 live births. Testing for SMA has been recommended for inclusion in neonatal ...