Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a cross-sectional study of factors involved in bone mineral density
OLIVEIRA DE ALMEIDA FREIRE, Patricia, VALENTE DE LEMOS-MARINI, Sofia Helena, TREVAS MACIEL-GUERRA, Andréa, MORENO MORCILLO, André, MATIAS BAPTISTA, Maria Tereza, PALANDI DE MELLO, Maricilda, GUERRA, Gil JR
Published in Journal of bone and mineral metabolism (01.01.2003)
Published in Journal of bone and mineral metabolism (01.01.2003)
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Journal Article
Bone mineralization in Turner syndrome: a transverse study of the determinant factors in 58 patients
COSTA, Aline M. G, LEMOS-MARINI, Sofia H. V, BAPTISTA, Maria T. M, MORCILLO, André M, MACIEL-GUERRA, Andréa T, GUERRA, Gil JR
Published in Journal of bone and mineral metabolism (01.01.2002)
Published in Journal of bone and mineral metabolism (01.01.2002)
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A Single Nucleotide Variant in the Promoter Region of 17β-HSD Type 5 Gene Influences External Genitalia Virilization in Females with 21-Hydroxylase Deficiency
Kaupert, Laura C, Gomes, Larissa G, Brito, Vinícius N, Lemos-Marini, Sofia H V, de Mello, Maricilda P, Longui, Carlos A, Kochi, Cristiane, de Castro, Margaret, Guerra, Jr, Gil, Mendonca, Berenice B, Bachega, Tânia A S S
Published in Hormone research in paediatrics (01.01.2016)
Published in Hormone research in paediatrics (01.01.2016)
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Journal Article
H28+C Insertion in the CYP21 Gene: A Novel Frameshift Mutation in a Brazilian Patient with the Classical Form of 21-Hydroxylase Deficiency
Lau, Ivy F., Soardi, Fernanda C., Lemos-Marini, Sofia H. V., Guerra Jr, Gil, Baptista, Maria Tereza M., De Mello, Maricilda P.
Published in The journal of clinical endocrinology and metabolism (01.12.2001)
Published in The journal of clinical endocrinology and metabolism (01.12.2001)
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Journal Article
Insulin Resistance in Congenital Adrenal Hyperplasia is Compensated for by Reduced Insulin Clearance
de Oliveira, Daniel Minutti, Tura, Andrea, Vasques, Ana Carolina Junqueira, Camilo, Daniella Fernandes, Lima, Marcelo Miranda, de Lemos-Marini, Sofia Helena Valente, Goncalves, Ezequiel Moreira, Guerra-Junior, Gil, Geloneze, Bruno
Published in The journal of clinical endocrinology and metabolism (01.04.2021)
Published in The journal of clinical endocrinology and metabolism (01.04.2021)
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Journal Article
Turner syndrome: the patients' view
Suzigan, Lígia Z C, Paiva e Silva, Roberto B, Lemos Marini, Sofia H V, Baptista, Maria Tereza M, Guerra, Jr, Gil, Magna, Luís Alberto, Maciel Guerra, Andréa T
Published in Jornal de pediatria (01.07.2004)
Published in Jornal de pediatria (01.07.2004)
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Brazilian growth charts for Williams–Beuren Syndrome at ages 2 to 18 years
Strafacci, Amanda de Sousa Lima, Bertapelli, Fabio, Kim, Chong Ae, Rivadeneira, Maria José, Honjo, Rachel Sayuri, Domenici Kulikowski, Leslie, Ferreira, Danilo Moretti, Batista, Letícia Cassimiro, Lopes, Vera Lúcia Gil da Silva, Guerra Junior, Gil
Published in Jornal de pediatria (01.05.2024)
Published in Jornal de pediatria (01.05.2024)
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Journal Article
Partial remission in Brazilian children and adolescents with type 1 diabetes. Association with a haplotype of class II human leukocyte antigen and synthesis of autoantibodies
Camilo, Daniela S., Pradella, Fernando, Paulino, Maria Fernanda, Baracat, Emilio C. E., Marini, Sofia H., Guerra, Gil, Pavin, Elizabeth J., Parisi, Candida, Longhini, Ana Leda F., Marques, Silvia B., Guariento, Edilaine G., Lieber, Sofia R., Macedo, Carlos Fernando, Gama e Silva, Letícia, Farias, Alessandro S., Santos, Leonilda M. B., Volpini, Walkyria M. G.
Published in Pediatric diabetes (01.06.2020)
Published in Pediatric diabetes (01.06.2020)
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Imaging Techniques in the Diagnostic Journey of Disorders of Sex Development
Guerra-Junior, Gil, Andrade, Kleber C., Barcelos, Irene H.K., Maciel-Guerra, Andréa T.
Published in Sexual development (01.02.2018)
Published in Sexual development (01.02.2018)
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Journal Article
Two distinct WT1 mutations identified in patients and relatives with isolated nephrotic proteinuria
Guaragna, Mara S., Lutaif, Anna Cristina G.B., Piveta, Cristiane S.C., Belangero, Vera M.S., Maciel-Guerra, Andréa T., Guerra-Junior, Gil, De Mello, Maricilda P.
Published in Biochemical and biophysical research communications (15.11.2013)
Published in Biochemical and biophysical research communications (15.11.2013)
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Journal Article
Functional Impact of Novel Androgen Receptor Mutations on the Clinical Manifestation of Androgen Insensitivity Syndrome
Petroli, Reginaldo J., Hiort, Olaf, Struve, Dagmar, Gesing, Julia K., Soardi, Fernanda C., Spínola-Castro, Angela M., Melo, Karla, Prado Arnhold, Ivo J., Maciel-Guerra, Andréa T., Guerra-Junior, Gil, Werner, Ralf, de Mello, Maricilda P.
Published in Sexual development (01.01.2017)
Published in Sexual development (01.01.2017)
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Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants
dos Santos, Ana Paula, Andrade, Juliana Gabriel Ribeiro, Piveta, Cristiane Santos Cruz, de Paulo, Juliana, Guerra, Jr, Gil, de Mello, Maricilda Palandi, Maciel-Guerra, Andréa Trevas
Published in BMC genetics (05.11.2013)
Published in BMC genetics (05.11.2013)
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Journal Article
Discordant Genotypic Sex and Phenotype Variations in Two Spanish Siblings with 17[alpha]-Hydroxylase/17,20-Lyase Deficiency Carrying the Most Prevalent Mutated CYP17A1 Alleles of Brazilian Patients
Fernandez-Cancio, Monica, Garcia-Garcia, Emilio, Gonzalez-Cejudo, Carmen, Martinez-Maestre, Maria-Angeles, Mangas-Cruz, Miguel-Angel, Guerra, Gil, Jr, de Mello, Maricilda Pandi, Arnhold, Ivo J.P, Nishi, Mirian Y, Mendonca, Berenice Bilharinho, Garcia-Arumi, Elena, Audi, Laura, Tizzano, Eduardo, Carrascosa, Antonio
Published in Sexual development (01.05.2017)
Published in Sexual development (01.05.2017)
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Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification: detection of a hemizygosis for the fibroblast growth factor receptor 1
Trarbach, Ericka Barbosa, Teles, Milena Gurgel, Costa, Elaine Maria Frade, Abreu, Ana Paula, Garmes, Heraldo Mendes, Guerra Junior, Gil, Baptista, Maria Tereza Matias, De Castro, Margaret, Mendonca, Berenice Bilharinho, Latronico, Ana Claudia
Published in Clinical endocrinology (Oxford) (01.03.2010)
Published in Clinical endocrinology (Oxford) (01.03.2010)
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Journal Article
Performance of Phalangeal Quantitative Ultrasound Parameters in the Evaluation of Reduced Bone Mineral Density Assessed By DX in Patients with 21 Hydroxylase Deficiency
Gonçalves, Ezequiel M, Sewaybricker, Leticia E, Baptista, Fatima, Silva, Analiza M, Carvalho, Wellington R.G, Santos, Allan O, de Mello, Maricilda P, Lemos-Marini, Sofia H.V, Guerra-Junior, Gil
Published in Ultrasound in medicine & biology (01.07.2014)
Published in Ultrasound in medicine & biology (01.07.2014)
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Journal Article
WT1 Haploinsufficiency Supports Milder Renal Manifestation in Two Patients with Denys-Drash Syndrome
Guaragna, Mara S., Ribeiro de Andrade, Juliana G., de Freitas Carli, Bárbara, Belangero, Vera M.S., Maciel-Guerra, Andréa T., Guerra-Júnior, Gil, de Mello, Maricilda P.
Published in Sexual development (01.01.2017)
Published in Sexual development (01.01.2017)
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Clinical and molecular data from 61 Brazilian cases of Congenital Hyperinsulinemic Hypoglycemia
Del Roio Liberatore, Jr, Raphael, Ramos, Priscila Manzini, Guerra, Jr, Gil, Manna, Thais Della, Silva, Ivani Novato, Martinelli, Jr, Carlos Eduardo
Published in Diabetology and metabolic syndrome (18.02.2015)
Published in Diabetology and metabolic syndrome (18.02.2015)
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Journal Article
Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys : A novel constitutively activating mutation in the first transmembrane helix
LATRONICO, Ana Claudia, SHINOZAKI, Hiromitsu, GUERRA, Gil JR, PEREIRA, Maria Adelaide A, LEMOS MARINI, Sofia Helena V, BAPTISTA, Maria Tereza M, ARNHOLD, Ivo Jorge P, FANELLI, Francesca, MENDONCA, Berenice B, SEGALOFF, Deborah L
Published in The journal of clinical endocrinology and metabolism (01.12.2000)
Published in The journal of clinical endocrinology and metabolism (01.12.2000)
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Journal Article
Spontaneous Final Height in Turner's Syndrome in Brazil
Lemos-Marini, S.H.V., Morcillo, A.M., Baptista, M.T.M., Guerra-Jr, G., Maciel-Guerra, A.T.
Published in Journal of Pediatric Endocrinology and Metabolism (01.11.2007)
Published in Journal of Pediatric Endocrinology and Metabolism (01.11.2007)
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