Search Results - "Pardini, V C"

Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families by VELHO, G, BLANCHE, H, MAROTTA, D, PILKIS, S. J, LIPKIND, G. M, BELL, G. I, FROGUEL, P, VAXILLAIRE, M, BELLANNE-CHANTELOT, C, PARDINI, V. C, TIMSIT, J, PASSA, P, DESCHAMPS, I, ROBERT, J.-J, WEBER, I. T

“…Mutations in glucokinase are associated with defects in insulin secretion and hepatic glycogen synthesis resulting in mild chronic hyperglycaemia, impaired…”
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Mutation screening in 18 Caucasian families suggest the existence of other MODY genes by CHEVRE, J.-C, HANI, E. H, BECKERS, D, MAES, M, BELLANNE-CHANTELOT, C, VELHO, G, FROGUEL, P, BOUTIN, P, VAXILLAIRE, M, BLANCHE, H, VIONNET, N, PARDINI, V. C, TIMSIT, J, LARGER, E, CHARPENTIER, G

“…Maturity-onset diabetes of the young (MODY) is a heterogeneous subtype of non-insulin-dependent diabetes mellitus characterised by early onset, autosomal…”
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Leptin levels, β-cell function, and insulin sensitivity in families with congenital and acquired generalized lipoatropic diabetes by PARDINI, V. C, VICTORIA, I. M. N, ROCHA, S. M. V, ANDRADE, D. G, ROCHA, A. M, PIERONI, F. B, MILAGRES, G, PURISCH, S, VELHO, G

“…Lipoatropic diabetes (LD) designates a group of syndromes characterized by diabetes mellitus with marked insulin resistance and either a localized or…”
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Accuracy of fasting glucose to diagnose diabetes in Brazilian subjects by Pardini, V C, Pardini, H, Velho, G

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Cryopreservation does not alter karyotype, multipotency, or NANOG/SOX2 gene expression of amniotic fluid mesenchymal stem cells by Angelo, P C, Ferreira, A C S, Fonseca, V D, Frade, S P, Ferreira, C S, Malta, F S V, Pereira, A K, Leite, H V, Brum, A P, Pardini, V C, Gomes, K B, Cabral, A C V

“…Cryopreservation of mesenchymal stem cells from amniotic fluid is of clinical importance, as these cells can be harvested during the prenatal period and stored…”
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Antibodies to bovine serum albumin in Brazilian children and young adults with IDDM by PARDINI, V. C, VIEIRA, J. G. H, MIRANDA, W, FERREIRA, S. R. G, VELHO, G, RUSSO, E. M. K

“…Antibodies to bovine serum albumin in Brazilian children and young adults with IDDM. V C Pardini , J G Vieira , W Miranda , S R Ferreira , G Velho and E M…”
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Frequency of islet cell autoantibodies (IA-2 and GAD) in young Brazilian type 1 diabetes patients by Pardini, V C, Mourao, D M, Nascimento, P D, Vívolo, M A, Ferreira, S R, Pardini, H

“…Type 1 diabetes, as an autoimmune disease, presents several islet cell-specific autoantibodies such as islet cell antibody (ICA), anti-insulin, anti-glutamic…”
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Frequency of FMR1 premutation in individuals with ataxia and/or tremor and/or parkinsonism by Reis, A H O, Ferreira, A C S, Gomes, K B, Aguiar, M J B, Fonseca, C G, Cardoso, F E, Pardini, V C, Carvalho, M R S

“…A late onset neurological syndrome in carriers of premutation in FMR1 gene was recently described. The condition was named fragile-X-associated tremor/ataxia…”
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Fetal hemoglobin levels are related to metabolic control in diabetic subjects by Pardini, V C, Victória, I M, Pieroni, F B, Milagres, G, Nascimento, P D, Velho, G, Purisch, S, Pardini, H

“…We have investigated the relationship between fetal hemoglobin (HbF) levels and metabolic control in subjects with insulin-dependent (N = 79) and…”
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Founder Effect of the 669insA Mutation in BSCL2 Gene Causing Berardinelli‐Seip Congenital Lipodystrophy in a Cluster from Brazil by Gomes, K. B., Pardini, V. C., Ferreira, A. C. S., Fonseca, C. G., Fernandes, A. P.

“…Summary Congenital generalized lipodystrophy (CGL) or Berardinelli‐Seip Syndrome (BSCL) is a rare autosomal recessive disease characterized by a…”
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Frequency of the S65C mutation in the hemochromatosis gene in Brazil by Oliveira, V C, Caxito, F A, Gomes, K B, Castro, A M, Pardini, V C, Ferreira, A C S

“…Development of hereditary hemochromatosis is associated with the C282Y, H63D or S65C mutations in the hemochromatosis gene. Though there is extensive knowledge…”
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Specific insulin and proinsulin secretion in glucokinase-deficient individuals by Pardini, V C, Velho, G, Reis, R, Purisch, S, Blanché, H, Vieira, J G, Moisés, R C

“…Glucokinase (GCK) is an enzyme that regulates insulin secretion, keeping glucose levels within a narrow range. Mutations in the glucokinase gene cause a rare…”
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An automated fluorescent single-strand conformation polymorphism technique for screening mutations in the hepatocyte nuclear factor-1α gene (maturity-onset diabetes of the young) by BOUTIN, P, CHEVRE, J. C, EL HABIB HANI, GOMIS, R, PARDINI, V. C, GUILLAUSSEAU, P.-J, VAXILLAIRE, M, VELHO, G, FROGUEL, P

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Leptin Levels,  -Cell Function, and Insulin Sensitivity in Families with Congenital and Acquired Generalized Lipoatropic Diabetes by Pardini, V. C.

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Mutations in the Seipin and AGPAT2 Genes Clustering in Consanguineous Families with Berardinelli-Seip Congenital Lipodystrophy from Two Separate Geographical Regions of Brazil by Gomes, Karina Braga, Fernandes, Ana Paula, Ferreira, Alessandro Clayton Souza, Pardini, Hermes, Garg, Abhimanyu, Magré, Jocelyne, Pardini, Victor Cavalcanti

“…Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by a near total congenital absence of fat and predisposition to develop diabetes mellitus…”
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Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli–Seip congenital lipodystrophy patients by Gomes, K. B., Pardini, V. Cavalcanti, Ferreira, A. Clayton de Souza, Fernandes, A. P.

“…Summary The Berardinelli–Seip congenital lipodystrophy (BSCL) syndrome is characterized by a near‐total congenital absence of fat and predisposition to develop…”
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An automated fluorescent single-strand conformation polymorphism technique for screening mutations in the hepatocyte nuclear factor-1alpha gene (maturity-onset diabetes of the young) by Boutin, P, Chèvre, J C, Hani, E H, Gomis, R, Pardini, V C, Guillausseau, P J, Vaxillaire, M, Velho, G, Froguel, P

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