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Central Precocious Puberty Caused by a Heterozygous Deletion in the <bold>MKRN3</bold> Promoter Region.
Published in:
Neuroendocrinology, 2018, v. 107, n. 2, p. 127, doi. 10.1159/000490059
By:
- Macedo, Delanie B.;
- França, Monica M.;
- Montenegro, Luciana R.;
- Cunha-Silva, Marina;
- Best, Danielle S.;
- Abreu, Ana Paula;
- Kaiser, Ursula B.;
- Mendonca, Berenice B.;
- Jorge, Alexander A.L.;
- Brito, Vinicius N.;
- Latronico, Ana Claudia
Publication type:
Article
High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic.
Published in:
Neuroendocrinology, 2017, v. 105, n. 1, p. 17, doi. 10.1159/000446963
By:
- Bessa, Danielle S.;
- Macedo, Delanie B.;
- Brito, Vinicius N.;
- França, Monica M.;
- Montenegro, Luciana R.;
- Cunha-Silva, Marina;
- Silveira, Leticia G.;
- Hummel, Tiago;
- Bergadá, Ignacio;
- Braslavsky, Debora;
- abreu, ana Paula;
- Dauber, andrew;
- Mendonca, Berenice B.;
- Kaiser, Ursula B.;
- Latronico, ana Claudia
Publication type:
Article
Comprehensive Genetic Analysis of 128 Candidate Genes in a Cohort With Idiopathic, Severe, or Familial Osteoporosis.
Published in:
Journal of the Endocrine Society, 2020, v. 4, n. 12, p. 1, doi. 10.1210/jendso/bvaa148
By:
- Rocha-Braz, Manuela G M;
- França, Monica M;
- Fernandes, Adriana M;
- Lerario, Antonio M;
- Zanardo, Evelin A;
- Santana, Lucas S de;
- Kulikowski, Leslie D;
- Martin, Regina M;
- Mendonca, Berenice B;
- Ferraz-de-Souza, Bruno
Publication type:
Article
Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis.
Published in:
Thyroid, 2022, v. 32, n. 3, p. 336, doi. 10.1089/thy.2021.0523
By:
- Salas-Lucia, Federico;
- França, Monica M.;
- Amrhein, James A.;
- Weir, J. Elizabeth;
- Dumitrescu, Alexandra M.;
- Refetoff, Samuel
Publication type:
Article
Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism.
Published in:
Thyroid, 2021, v. 31, n. 2, p. 202, doi. 10.1089/thy.2020.0253
By:
- França, Monica M.;
- German, Alina;
- Fernandes, Gustavo W.;
- Liao, Xiao-Hui;
- Bianco, Antonio C.;
- Refetoff, Samuel;
- Dumitrescu, Alexandra M.
Publication type:
Article
Nonautoimmune Hyperthyroidism Caused by a Somatic Mosaic GNAS Mutation Involving Part of the Thyroid Gland.
Published in:
Thyroid, 2020, v. 30, n. 4, p. 640, doi. 10.1089/thy.2019.0471
By:
- França, Monica M.;
- Levine, Robert L.;
- Pappa, Theodora;
- Ilaka-Chibuluzo, Sandra;
- Rothberger, Gary D.;
- Dumitrescu, Alexandra M.;
- Refetoff, Samuel
Publication type:
Article
A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family.
Published in:
Sexual Development, 2017, v. 11, n. 3, p. 137, doi. 10.1159/000477193
By:
- França, Monica M.;
- Lerario, antonio M.;
- Funari, Mariana F.a.;
- Nishi, Mirian Y.;
- Narcizo, amanda M.;
- de Mello, Maricilda P.;
- Guerra-Junior, Gil;
- Maciel-Guerra, andrea T.;
- Mendonça, Berenice B.
Publication type:
Article
Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency.
Published in:
PLoS ONE, 2020, v. 15, n. 10, p. 1, doi. 10.1371/journal.pone.0240795
By:
- França, Monica M.;
- Funari, Mariana F. A.;
- Lerario, Antonio M.;
- Santos, Mariza G.;
- Nishi, Mirian Y.;
- Domenice, Sorahia;
- Moraes, Daniela R.;
- Costalonga, Everlayny F.;
- Maciel, Gustavo A. R.;
- Maciel-Guerra, Andrea T.;
- Guerra-Junior, Gil;
- Mendonca, Berenice B.
Publication type:
Article
Transcriptomic Response to 1,25-Dihydroxyvitamin D in Human Fibroblasts with or without a Functional Vitamin D Receptor (VDR): Novel Target Genes and Insights into VDR Basal Transcriptional Activity.
Published in:
Cells (2073-4409), 2019, v. 8, n. 4, p. 318, doi. 10.3390/cells8040318
By:
- Costa, Pedro L. F.;
- França, Monica M.;
- Katayama, Maria L.;
- Carneiro, Eduardo T.;
- Martin, Regina M.;
- Folgueira, Maria A. K.;
- Latronico, Ana C.;
- Ferraz-de-Souza, Bruno
Publication type:
Article

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