P. Pacheco

发表

Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: Study of 19 heterozygous and 2 homozygous patients

X. Estivill, T. Casals, J. Lavinha, 1997, Human mutation.

Nonsense mutations in the human β-globin gene lead to unexpected levels of cytoplasmic mRNA accumulation

J. Lavinha, L. Romão, Â. Inácio, 2000 .

Nonsense mutations in the human beta-globin gene lead to unexpected levels of cytoplasmic mRNA accumulation.

J. Lavinha, L. Romão, Â. Inácio, 2000, Blood.

Haplotypic heterogeneity of beta-thalassaemia IVS I-1 (G-->A) mutation in southern Portugal.

J. Lavinha, P. Faustino, P. Pacheco, 1996, British journal of haematology.

Complex Cystic Fibrosis 1158X Results in Reduced Lmels of Comectly Processed mRNA in a Pancreatic Sufficient Patient

M. Amaral, C. Barreto, P. Pacheco, 1996 .

Clinical and Laboratory Effects of Hydroxyurea in Children and Adolescents with Sickle Cell Anemia: A Portuguese Hospital Study

Armandina Miranda, I. Picanço, P. Pacheco, 2005, Hemoglobin.

Serum proteomics signature of cystic fibrosis patients: a complementary 2-DE and LC-MS/MS approach.

Daniel Faria, Francisco M. Couto, Deborah Penque, 2011, Journal of proteomics.

Cystic Fibrosis F508del Patients Have Apically Localized CFTR in a Reduced Number of Airway Cells

M. Amaral, S. Beck, C. Farinha, 2000, Laboratory Investigation.

Complex cystic fibrosis allele R334W‐R1158X results in reduced levels of correctly processed mRNA in a pancreatic sufficient patient

M. Amaral, J. Lavinha, C. Barreto, 1996, Human mutation.

Diagnostic value of CSF protein profile in a Portuguese population of sCJD patients

I. Santana, C. Oliveira, I. Baldeiras, 2009, Journal of Neurology.

Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study

X. Estivill, T. Dörk, C. Clavel, 2001, Journal of medical genetics.

SELDI-TOF biomarker signatures for cystic fibrosis, asthma and chronic obstructive pulmonary disease.

D. Porteous, R. Gray, D. Penque, 2010, Clinical biochemistry.

The geographic pattern of β‐thalassaemia mutations in the Portuguese population

J. Lavinha, P. Faustino, P. Pacheco, 1999, British Journal of Haematology.

β‐Thalassaemia unlinked to the β‐globin gene interacts with sickle‐cell trait in a Portuguese family

J. Lavinha, P. Faustino, M. J. Peres, 1995 .

β‐Thalassaemia in Cubans: Novel allele increases the genetic diversity at the HBB locus in the Caribbean

J. Lavinha, P. Pacheco, Adriana Muñiz, 2000, American journal of hematology.

Cystic fibrosis patients with the 3272‐26A→G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane

M. Amaral, S. Beck, C. Farinha, 1999, Human mutation.

SELDI-TOF biomarker signatures for cystic fibrosis, asthma and chronic obstructive pulmonary disease.

D. Penque, S. Ciordia, P. Gomes-Alves, 2010, Clinical biochemistry.

Serum proteomics signature of cystic fibrosis patients: a complementary 2-DE and LC-MS/MS approach.

Francisco M. Couto, Daniel Faria, T. Conrads, 2011, Journal of proteomics.

Cystic fibrosis patients with the 3272‐26A→G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane

M. Amaral, S. Beck, C. Farinha, 1999, Human mutation.