16 documents found, page 1 of 2
The glucocorticoid receptor gene (Nr3c1) 9ß snp is associated with posttraumati...
Castro-Vale, I; Durães, C; van Rossum, EFC; Staufenbiel, SM; Severo, M; Lemos, MC; Carvalho, DPosttraumatic stress disorder (PTSD) has been associated with glucocorticoid (GC) hyper-sensitivity. Although genetic factors account for 30–46% of the variance in PTSD, no associations have been found between single nucleotide polymorphisms (SNPs) of the GC receptor (GR) gene (NR3C1) and risk for this disorder. We studied the association of five SNPs in the GR gene (rs10052957, rs6189/rs6190, rs6195, rs4142324...
High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism
Gonçalves, CI; Patriarca, FM; Aragüés, JM; Carvalho, D; Fonseca, F; Martins, S; Marques, O; Pereira, BD; Martinez-de-Oliveira, J; Lemos, MCCongenital hypogonadotropic hypogonadism (CHH) is characterized by lack of normal pubertal development due to deficient gonadotropin-releasing hormone (GnRH) secretion or action, and is caused by genetic defects in several genes. Mutations in the CHD7 gene cause CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and development, Genital hypoplasia and Ear abnormal...
High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism
Gonçalves, CI; Patriarca, FM; Aragüés, JM; Carvalho, D; Fonseca, F; Martins, S; Marques, O; Pereira, BD; Martinez-de-Oliveira, J; Lemos, MCCongenital hypogonadotropic hypogonadism (CHH) is characterized by lack of normal pubertal development due to deficient gonadotropin-releasing hormone (GnRH) secretion or action, and is caused by genetic defects in several genes. Mutations in the CHD7 gene cause CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and development, Genital hypoplasia and Ear abnormal...
Expanding the Genetic Spectrum of ANOS1 Mutations in Patients with Congenital H...
Gonçalves, CI; Fonseca, F; Borges, T; Cunha, F; Lemos, MCSTUDY QUESTION: What is the prevalence and functional consequence of ANOS1 (KAL1) mutations in a group of men with congenital hypogonadotropic hypogonadism (CHH)? SUMMARY ANSWER: Three of forty-two (7.1%) patients presented ANOS1 mutations, including a novel splice site mutation leading to exon skipping and a novel contiguous gene deletion associated with ichthyosis. WHAT IS KNOWN ALREADY: CHH is characterized ...
Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadot...
Gonçalves, C; Bastos, M; Pignatelli, D; Borges, T; Aragüés, JM; Fonseca, F; Pereira, BD; Socorro, S; Lemos, MCOBJECTIVE: To determine the prevalence of fibroblast growth factor receptor 1 (FGFR1) mutations and their predicted functional consequences in patients with idiopathic hypogonadotropic hypogonadism (IHH). DESIGN: Cross-sectional study. SETTING: Multicentric. PATIENT(S): Fifty unrelated patients with IHH (21 with Kallmann syndrome and 29 with normosmic IHH). INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Patien...
The CTLA4 +49 A/G polymorphism is not associated with susceptibility to type 1 ...
Lemos, MC; Coutinho, E; Gomes, L; Bastos, M; Fagulha, A; Barros, L; Carrilho, F; Geraldes, E; Regateiro, FJ; Carvalheiro, MCTLA4 genetic polymorphisms have been associated with type 1 diabetes. We genotyped 207 patients and 249 controls for the most frequently investigated polymorphism of the CTLA4 gene (+49A/G (rs231775)). No significant differences were observed, suggesting that this polymorphism is not strongly associated with type 1 diabetes in the Portuguese population.
Lack of association of vitamin D receptor gene polymorphisms with susceptibilit...
Lemos, MC; Fagulha, A; Coutinho, E; Gomes, L; Bastos, M; Barros, L; Carrilho, F; Geraldes, E; Regateiro, FJ; Carvalheiro, MThe vitamin D receptor (VDR) gene is a candidate gene for susceptibility to autoimmune disorders. Association studies of VDR polymorphisms and risk of type 1 diabetes often produced conflicting results in different ethnic backgrounds. The aim of this study was to test for association between common VDR polymorphisms and the genetic susceptibility to type 1 diabetes in the Portuguese population. We genotyped 207...
Genetic polymorphism of CYP2D6 influences susceptibility to papillary thyroid c...
Lemos, MC; Carrilho, F; Rodrigues, F; Coutinho, E; Gomes, L; Carvalheiro, M; Regateiro, FJOBJECTIVE: Xenobiotic-metabolizing enzymes are widely polymorphic and confer interindividual variation in the ability to detoxify carcinogens or to activate pro-carcinogens. A common polymorphism of cytochrome P450 2D6 (CYP2D6) results in lack of enzyme activity and has been associated with an altered susceptibility to several cancers. The aim of this study was to investigate the association between the CYP2D6 ...
PROP1 gene analysis in Portuguese patients with combined pituitary hormone defi...
Lemos, MC; Gomes, L; Bastos, M; Leite, V; Limbert, E; Carvalho, D; Bacelar, C; Monteiro, M; Fonseca, F; Agapito, A; Castro, JJ; Regateiro, FJOBJECTIVE: Mutations of the PROP1 gene lead to combined pituitary hormone deficiency (CPHD), which is characterized by a deficiency of GH, TSH, LH/FSH, PRL and, less frequently, ACTH. This study was undertaken to investigate the molecular defect in a cohort of patients with CPHD. DESIGN, PATIENTS AND MEASUREMENTS: A multicentric study involving 46 cases of CPHD (17 familial cases belonging to seven kindreds and...
PROP1 Gene Analysis in Portuguese Patients with Combined Pituitary Hormone Defi...
Lemos, MC; Gomes, L; Bastos, M; Leite, V; Limbert, E; Carvalho, D; Bacelar, C; Monteiro, M; Fonseca, F; Agapito, A; Castro, JJ; Regateiro, FOBJECTIVE: Mutations of the PROP1 gene lead to combined pituitary hormone deficiency (CPHD), which is characterized by a deficiency of GH, TSH, LH/FSH, PRL and, less frequently, ACTH. This study was undertaken to investigate the molecular defect in a cohort of patients with CPHD. DESIGN, PATIENTS AND MEASUREMENTS: A multicentric study involving 46 cases of CPHD (17 familial cases belonging to seven kindreds and...