Search Results - "Félix, TM"

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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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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Study of IRF 6 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 IRF 6 (rs2235371 and rs642961) and 8q24 region (rs987525) according…”
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Periconceptional use of folic acid and risk of miscarriage - findings of the Oral Cleft Prevention Program in Brazil by Vila-Nova, Camila, Wehby, George L, Queirós, Fernanda C, Chakraborty, Hrishkesh, Félix, Temis M, Goco, Norman, Moore, Janet, Gewehr, Eduardo V, Lins, Lorene, Affonso, Carla M C, Murray, Jeffrey C

“…We report on the risk of miscarriage with high- and low-dosage periconceptional folic acid (FA) supplementation from a double-blind randomized clinical trial…”
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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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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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Clinical variability in KBG syndrome: Report of three unrelated families by Maegawa, Gustavo Henrique Boff, Leite, Júlio Cesar Loguercio, Félix, Têmis Maria, da Silveira, Heraldo Luís Dias, da Silveira, Heloísa Emília

“…The KBG syndrome is characterized by short stature, macrodontia, a specific combination of minor anomalies, developmental delay, and/or mental retardation. 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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Infantile Systemic Hyalinosis: report of three unrelated Brazilian children and review of the literature by Félix, Têmis M., Puga, Ana Cristina S., Cestari, Tânia, Cartell, André, Cerski, Marcelle

“…Infantile Systemic Hyalinosis (ISH) is an autosomal recessive disorder characterized by diffuse hyaline deposits in the skin, gastrointestinal tract, muscles…”
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A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect by De Molfetta, Greice Andreotti, Felix, Temis Maria, Riegel, Mariluce, Ferraz, Victor Evangelista de Faria, de Pina Neto, João Monteiro

“…Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are distinct human neurogenetic disorders; however, a clinical overlap between AS and PWS has been…”
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DOOR syndrome: report of three additional cases by Félix, Têmis Maria, de Menezes Karam, Simone, Della Rosa, Valter Augusto, Moraes, Ana Maria S Machado

“…Three new cases of DOOR syndrome are described in unrelated Brazilian children. One of these cases also has a congential cardiac defect. None of the cases has…”
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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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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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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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