4 documents found, page 1 of 1
Next-generation sequencing of 12 obesity genes in a Portuguese cohort of patien...
Manco, Licínio; Pereira, Janet; Fidalgo, Teresa; Cunha, Marina; Pinto-Gouveia, José; Padez, Cristina; Palmeira, LaraWe examined 12 monogenic obesity genes in 72 Portuguese individuals with overweight and obesity (class 1 and class 2), some of which with suspected genetic obesity, to identify known or unknown potential obesity variants. Genomic DNA was analyzed for variants in genes LEP, LEPR, MC4R, POMC, PCSK1, BDNF, NTRK2, SIM1, SH2B1, UCP3, GCG and ADCY3 through next generation sequencing (NGS). The impact of the rare vari...
Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phospha...
Manco, Licínio; Bento, Celeste; Victor, Bruno L.; Pereira, Janet; Relvas, Luís; Brito, Rui M.; Seabra, Carlos; Maia, Tabita M.; Ribeiro, M. Letícia
Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated b...
Pereira, Janet; Bento, Celeste; Manco, Licinio; Gonzalez, Ataulfo; Vagace, Jose; Ribeiro, Maria Letícia
Molecular characterization of five Portuguese patients with pyrimidine 5’-nucle...
Manco, Licínio; Relvas, Luís; Pinto, C. Silva; Pereira, Janet; Almeida, A. Bessa; Ribeiro, M. LetíciaFour different gene mutations were identified in five unrelated Portuguese patients with pyrimidine 5’-nucleotidase type I (P5’N-I) deficient chronic hemolytic anemia. Mutations 502G®C (168 Gly®Arg), 773T®C (258Ile®Thr) and the insertion of an Alu element in exon 9, leading to skipping of this exon in the mRNA transcript, are newly described mutations whereas mutation 425T®C (142Leu®Pro) has been previously rep...