Search Results - "FELIX, T. M"

Study of IRF6 and 8q24 region in non-syndromic oral clefts in the Brazilian population by de Souza, LT, Kowalski, TW, Ferrari, J, Monlléo, IL, Ribeiro, EM, de Souza, J, Fett-Conte, AC, de Araujo, TK, Gil-da-Silva-Lopes, VL, Ribeiro-dos-Santos, ÂKC, dos Santos, SEB, Félix, TM

“…Objectives We investigated the association between non‐syndromic oral cleft and variants in IRF6 (rs2235371 and rs642961) and 8q24 region (rs987525) according…”
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Genetics of homocysteine metabolism and associated disorders by Brustolin, S, Giugliani, R, Félix, T M

“…Homocysteine is a sulfur-containing amino acid derived from the metabolism of methionine, an essential amino acid, and is metabolized by one of two pathways:…”
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Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort by Holtz, A.P., Souza, L.T., Ribeiro, E.M., Acosta, A.X., Lago, R.M.R.S., Simoni, G., Llerena, J.C., Félix, T.M.

“…Osteogenesis imperfecta (OI) is a genetically and clinically heterogeneous disorder caused by disruption of type I collagen synthesis. Previous Brazilian…”
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Calcium intake improvement after nutritional intervention in paediatric patients with osteogenesis imperfecta by Zambrano, M. B., Félix, T. M., Mello, E. D.

“…Background In several bone disorders, adequate calcium intake is a coadjuvant intervention to regular treatment. Osteogenesis imperfecta (OI) is a collagen…”
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MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population by Souza, L T, Kowalski, T W, Collares, M V M, Félix, T M

“…Nonsyndromic oral clefts (NSOC) are the most common craniofacial birth defects in humans. The etiology of NSOC is complex, involving both genetic and…”
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Polymorphisms in genes MTHFR, MTR and MTRR are not risk factors for cleft lip/palate in South Brazil by Brandalize, A P C, Bandinelli, E, Borba, J B, Félix, T M, Roisenberg, I, Schüler-Faccini, L

“…Non-syndromic cleft lip and palate (CL/P) occurs due to interaction between genetic and environmental factors. Abnormalities in homocysteine metabolism may…”
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A genetic diagnostic survey in a population of 202 mentally retarded institutionalized patients in the south of Brazil by Félix, Têmis Maria, Leite, Júlio César Loguercio, Maluf, Sharbel Weidner, Coelho, Janice Carneiro

“…Filix TM, Leite JCL, Maluf SW, Coelho JC. A genetic diagnostic survey in a population of 202 mentally retarded institutionalized patients in the south of…”
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Difference between Methods for Estimation of Basal Metabolic Rate and Body Composition in Pediatric Patients with Osteogenesis Imperfecta by Zambrano, Marina B, Félix, Têmis M, de Mello, Elza D

“…Osteogenesis Imperfecta (OI) is a bone disease characterized by bone fragility, deformities, and multiple fractures. The aim of this study was to compare the…”
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An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects by Fakhouri, Walid D., Rahimov, Fedik, Attanasio, Catia, Kouwenhoven, Evelyn N., Ferreira De Lima, Renata L., Felix, Temis Maria, Nitschke, Larissa, Huver, David, Barrons, Julie, Kousa, Youssef A., Leslie, Elizabeth, Pennacchio, Len A., Van Bokhoven, Hans, Visel, Axel, Zhou, Huiqing, Murray, Jeffrey C., Schutte, Brian C.

“…DNA variation in Interferon Regulatory Factor 6 (IRF6) causes Van der Woude syndrome (VWS), the most common syndromic form of cleft lip and palate (CLP)…”
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Say syndrome: A new case with cystic renal dysplasia in discordant monozygotic twins by ASHTON-PROLLA, P, FELIX, T. M

“…Say syndrome is a rare condition characterized by cleft palate, short stature, and microcephaly. Abu‐Libdeh et al. [1993: Am J Med Genet 45:358–360] described…”
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Three new cases of spondylocarpotarsal synostosis syndrome: Clinical and radiographic studies by Coêlho, Kátia-Édni F.A., Ramos, Ester S., Felix, Temis M., Martelli, Lucia, de Pina-Neto, João M., Niikawa, Norio

“…Spondylocarpotarsal synostosis syndrome (SSS) or congenital synspondylism is a recently delineated clinical entity. At least 15 patients have been reported. We…”
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Atypical macrocephaly-cutis marmorata telangiectatica congenita with retinoblastoma by Schwartz, Ida V D, Felix, Têmis M, Riegel, Mariluce, Schüler-Faccini, Lavínia

“…We describe a boy presenting with macrosomy, body asymmetry, cutis marmorata and tall stature who developed a retinoblastoma. Although he does not have…”
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Age- and diet-specific effects of variation at S6 kinase on life history, metabolic, and immune response traits in Drosophila melanogaster by Cho, Irene, Horn, Lucas, Felix, Tashauna M, Foster, Leanne, Gregory, Gwendolyn, Starz-Gaiano, Michelle, Chambers, Michelle M, De Luca, Maria, Leips, Jeff

“…Life history theory hypothesizes that genetically based variation in life history traits results from alleles that alter age-specific patterns of energy…”
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Fragile X syndrome: clinical and cytogenetic studies by Félix, T M, de Pina-Neto, J M

“…Three families with the fragile X syndrome were studied with the aim to establish the most frequent clinical signs in the affected individuals and heterozygous…”
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Medical sequencing of candidate genes for nonsyndromic cleft lip and palate by Vieira, Alexandre R, Avila, Joseph R, Daack-Hirsch, Sandra, Dragan, Ecaterina, Félix, Têmis M, Rahimov, Fedik, Harrington, Jill, Schultz, Rebecca R, Watanabe, Yoriko, Johnson, Marla, Fang, Jennifer, O'Brien, Sarah E, Orioli, Iêda M, Castilla, Eduardo E, Fitzpatrick, David R, Jiang, Rulang, Marazita, Mary L, Murray, Jeffrey C

“…Nonsyndromic or isolated cleft lip with or without cleft palate (CL/P) occurs in wide geographic distribution with an average birth prevalence of 1/700. We…”
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Cooperação, confiabilidade e segurança no trabalho by ARAÚJO, A. J. S., SIQUEIRA, A. B., VASCONCELOS, A. C. L., FIGUEIREDO, M. G., Máximo, T.A.C.O., FELIX, Y. T. M.

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The role of methylenetetrahydrofolate reductase in acute lymphoblastic leukemia in a Brazilian mixed population by Zanrosso, Crisiane Wais, Hatagima, Ana, Emerenciano, Mariana, Ramos, Flávio, Figueiredo, Alexandre, Félix, Têmis Maria, Segal, Sandra L., Giugliani, Roberto, Muniz, Maria Tereza Cartaxo, Pombo-de-Oliveira, Maria S.

“…The polymorphisms in the methylenetetrahydrofolate reductase ( MTHFR) gene are associated with leukemogenesis. In order to investigate the influence of two…”
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Metabolic effects and the methylenetetrahydrofolate reductase (MTHFR) polymorphism associated with neural tube defects in southern Brazil by Félix, Têmis Maria, Leistner, Sandra, Giugliani, Roberto

“…BACKGROUND The importance of metabolic factors in neural tube defects (NTDs) has been the focus of many investigations. Several authors have suggested that…”
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Parental origin of mutations in sporadic cases of Treacher Collins syndrome by SPLENDORE, Alessandra, JABS, Ethylin Wang, FELIX, Têmis Maria, PASSOS-BUENO, Maria Rita

“…In some autosomal dominant conditions, there is a correlation between new mutations and paternal age, with new mutations arising almost exclusively in the male…”
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Serum S100B levels in patients with neural tube defects by Netto, Cristina B.O., Portela, Luis V., Félix, Têmis M., Souza, Diogo O., Gonçalves, Carlos-Alberto, Giugliani, Roberto

“…We investigated the levels of S100B protein in the serum of patients with neural tube defects (NTD), and the ontogenetic variation on this group of patients…”
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