Results 71 to 80 of about 270 (141)

Mutações no gene da metilenotetrahidrofolato redutase e síndrome de Down

Cadernos de Saúde Pública, 2002
Sindrome de Down (SD) é uma alteração genética e metabólica complexa atribuída à presença de três cópias do cromossomo 21. O cromossomo extra em 93% dos casos é de origem materna e é resultante de uma segregação anormal durante a meiose (não-disjunção ...
Grillo Laura Brunelli das Neves, Acácio Gregório Lorenzo, Barini Ricardo, Pinto Jr. Walter, Bertuzzo Carmen Silvia   +4 more
doaj  

Molecular study of hearing loss in Minas Gerais, Brazil. [PDF]

Braz J Otorhinolaryngol, 2020
Schüffner ROA, Nascimento KL, Dias FA, Silva PHTD, Pires WGB, Cipriano NM, Santos LLD.   +6 more
europepmc   +1 more source

Late-Onset Fabry Disease: Diagnostic Challenges and Clinical Evolution. [PDF]

Arq Bras Cardiol
Mejía HPG, Madogolele HDCN, Barroso MCRD, Nogueira MCA, Morales KRP, Romero CE, Nastari L, Fernandes F.   +7 more
europepmc   +1 more source

Update of the Brazilian Guideline for Familial Hypercholesterolemia - 2021. [PDF]

Arq Bras Cardiol, 2021
Izar MCO, Giraldez VZR, Bertolami A, Santos Filho RDD, Lottenberg AM, Assad MHV, Saraiva JFK, Chacra APM, Martinez TLR, Bahia LR, Fonseca FAH, Faludi AA, Sposito AC, Chagas ACP, Jannes CE, Amaral CK, Araújo DB, Cintra DE, Coutinho EDR, Cesena F, Xavier HT, Mota ICP, Giuliano ICB, Faria Neto JR, Kato JT, Bertolami MC, Miname MH, Castelo MHCG, Lavrador MSF, Machado RM, Souza PG, Alves RJ, Machado VA, Salgado Filho W.   +33 more
europepmc   +1 more source

Phenotypic Variability in a Family with Andersen-Tawil Syndrome. [PDF]

Arq Bras Cardiol
Nascimento SUCND, Duarte JOP, Magalhães LP, Guabiru AT, Santos AS, Cavalvanti E, Rodrigues VB, Aras R.   +7 more
europepmc   +1 more source

Apical Sparing and Granular Sparkling: Not Everything that Glitters Is Cardiac Amyloidosis. [PDF]

Arq Bras Cardiol
Barros APM, Romero CE, Cardoso JN, Fernandes F, Hotta VT.   +4 more
europepmc   +1 more source

Unveiling the Genetic Puzzle: Asymmetric Hypertrophy in a Heart Transplant Recipient Linked to Birt-Hogg-Dubé Syndrome. [PDF]

Arq Bras Cardiol
Furquim SR, Pires LVL, Buriti NA, Carvalho MLP, Marques EL, Linnenkamp BDW, Sacilotto L, Marcondes-Braga FG, Campos IW, Seguro LFBDC, Mangini S, Avila MS, Bacal F, Krieger JE.   +13 more
europepmc   +1 more source

Loss of Imprinting of IGF2 and H19, Promoter Usage of IGF2, Loss of Heterozigosity of IGF2R and Helicobacter pylori Infection in Laryngeal Squamous Cell Carcinoma (LSCC)

, 2006
The imprinted gene IGF2 codes for the mitogenic peptide, comprising 67 amino acids and contributing to tumor growth through its autocrine or endocrine effects. Its expression, directed from four different promoters, is regulated on the level of DNA methylation, since it is reciprocally imprinted with H19.
Gall Trošelj, Koraljka, Grbeša, Ivana
openaire   +1 more source

Fabry Disease and Its Different Phenotypes. [PDF]

Arq Bras Cardiol
Antunes MO, Nastari RR, Arteaga-Fernandez E, Lizandro MGH, El-Feghaly WB, Ferreira GJDS, Martins AS, Leguizamon JAGO, Correia VM, Madrini Junior V, Fernandes F.   +10 more
europepmc   +1 more source