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A severe phenotype of Kennedy disease associated with a very large CAG repeat expansion.
Published in:
2018
By:
- Madeira, João L. O.;
- Souza, Alexandre B. C.;
- Cunha, Flavia S.;
- Batista, Rafael L.;
- Gomes, Nathalia L.;
- Rodrigues, Andresa S.;
- Mennucci de Haidar Jorge, Frederico;
- Chadi, Gerson;
- Callegaro, Dagoberto;
- Mendonca, Berenice B.;
- Costa, Elaine M. F.;
- Domenice, Sorahia
Publication type:
Case Study
Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency.
Published in:
2010
By:
- Trarbach, Ericka B;
- Abreu, Ana Paula;
- Silveira, Leticia Ferreira Gontijo;
- Garmes, Heraldo Mendes;
- Baptista, Maria Tereza M;
- Teles, Milena Gurgel;
- Costa, Elaine M F;
- Mohammadi, Moosa;
- Pitteloud, Nelly;
- Mendonca, Berenice B;
- Latronico, Ana Claudia
Publication type:
journal article
TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood.
Published in:
2010
By:
- Gianetti, Elena;
- Tusset, Cintia;
- Noel, Sekoni D;
- Au, Margaret G;
- Dwyer, Andrew A;
- Hughes, Virginia A;
- Abreu, Ana Paula;
- Carroll, Jessica;
- Trarbach, Ericka;
- Silveira, Leticia F G;
- Costa, Elaine M F;
- de Mendonça, Berenice Bilharinho;
- de Castro, Margaret;
- Lofrano, Adriana;
- Hall, Janet E;
- Bolu, Erol;
- Ozata, Metin;
- Quinton, Richard;
- Amory, John K;
- Stewart, Susan E
Publication type:
journal article
Polymorphisms Identified in the Upstream Core Polyadenylation Signal of IGF1 Gene Exon 6 Do Not Cause Pre- and Postnatal Growth Impairment.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 12, p. 4889, doi. 10.1210/jc.2007-1661
By:
- Coutinho, Debora C.;
- Coletta, Rocio R. D.;
- Costa, Elaine M. F.;
- Pachi, Paulo R.;
- Boguszewski, Margaret C. S.;
- Damiani, Durval;
- Mendonca, Berenice B.;
- Arnhold, Ivo J. P.;
- Jorge, Alexander A. L.
Publication type:
Article
P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping.
Published in:
2003
By:
- Martin, Regina M.;
- Lin, Chin J.;
- Costa, Elaine M. F.;
- de Oliveira, Maria Leocadia;
- Carrilho, Alexandre;
- Villar, Heloisa;
- Longui, Carlos A.;
- Mendonca, Berenice B.
Publication type:
journal article
Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 7, p. 3241, doi. 10.1210/jc.2002-021658
By:
- MELO, KARLA F. S.;
- MENDONCA, BERENICE B.;
- BILLERBECK, ANA ELISA C.;
- COSTA, ELAINE M. F.;
- INÁCIO, MARLENE;
- SILVA, FREDERICO A. Q.;
- LEAL, ANGELA M. O.;
- LATRONICO, ANA C.;
- ARNHOLD, IVO J. P.
Publication type:
Article
An Unusual Phenotype of Frasier Syndrome due to IVS9 +4C>T Mutation in the WT1 Gene: Predominantly Male Ambiguous Genitalia and Absence of Gonadal Dysgenesis.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 6, p. 2500, doi. 10.1210/jcem.87.6.8521
By:
- MELO, KARLA F. S.;
- MARTIN, REGINA M.;
- COSTA, ELAINE M. F.;
- CARVALHO, FILOMENA M.;
- JORGE, ALEXANDER A.;
- ARNHOLD, IVO J. P.;
- MENDONCA, BERENICE B.
Publication type:
Article
Marijuana Is Associated With a Hormonal Imbalance Among Several Habits Related to Male Infertility: A Retrospective Study.
Published in:
Frontiers in Reproductive Health, 2022, v. 4, p. 1, doi. 10.3389/frph.2022.820451
By:
- Teixeira, Thiago A.;
- Iori, Ivan;
- Andrade, Gustavo;
- Saldiva, Paulo H. N.;
- Drevet, Joël R.;
- Costa, Elaine M. F.;
- Hallak, Jorge
Publication type:
Article
Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development.
Published in:
Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 5, p. 785, doi. 10.1002/mgg3.445
By:
- Sproll, Patrick;
- Eid, Wassim;
- Gomes, Camila R.;
- Mendonca, Berenice B.;
- Gomes, Nathalia L.;
- Costa, Elaine M.‐F.;
- Biason‐Lauber, Anna
Publication type:
Article
Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 10, p. 1620, doi. 10.1093/hmg/ddz002
By:
- Chamberlin, Adam;
- Huether, Robert;
- Machado, Aline Z;
- Groden, Michael;
- Liu, Hsiao-Mei;
- Upadhyay, Kinnari;
- O, Vivian;
- Gomes, Nathalia L;
- Lerario, Antonio M;
- Nishi, Mirian Y;
- Costa, Elaine M F;
- Mendonca, Berenice;
- Domenice, Sorahia;
- Velasco, Jacqueline;
- Loke, Johnny;
- Ostrer, Harry
Publication type:
Article
Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life.
Published in:
Endocrine Reviews, 2019, v. 40, n. 6, p. 1547, doi. 10.1210/er.2019-00049
By:
- Wisniewski, Amy B;
- Batista, Rafael L;
- Costa, Elaine M F;
- Finlayson, Courtney;
- Sircili, Maria Helena Palma;
- Dénes, Francisco Tibor;
- Domenice, Sorahia;
- Mendonca, Berenice B
Publication type:
Article
Mobile DNA in Endocrinology: LINE-1 Retrotransposon Causing Partial Androgen Insensitivity Syndrome.
Published in:
2019
By:
- Batista, Rafael Loch;
- Yamaguchi, Katsumi;
- di Santi Rodrigues, Andresa;
- Nishi, Mirian Yumie;
- Goodier, John L;
- Carvalho, Luciani Renata;
- Domenice, Sorahia;
- Costa, Elaine M F;
- Hazazian, Haig;
- Mendonca, Berenice Bilharinho;
- Rodrigues, Andresa di Santi;
- Kazazian, Haig H
Publication type:
journal article
Homozygous inactivating mutation in NANOS3 in two sisters with primary ovarian insufficiency.
Published in:
2014
By:
- Santos, Mariza G;
- Machado, Aline Z;
- Martins, Conceiçao N;
- Domenice, Sorahia;
- Costa, Elaine M F;
- Nishi, Mirian Y;
- Ferraz-de-Souza, Bruno;
- Jorge, Soraia A C;
- Pereira, Carlos A;
- Soardi, Fernanda C;
- de Mello, Maricilda P;
- Maciel-Guerra, Andrea T;
- Guerra-Junior, Gil;
- Mendonca, Berenice B;
- Martins, Conceição N
Publication type:
journal article
Quality of life in a large cohort of adult Brazilian patients with 46,XX and 46,XY disorders of sex development from a single tertiary centre.
Published in:
Clinical Endocrinology, 2015, v. 82, n. 2, p. 274, doi. 10.1111/cen.12572
By:
- Cassia Amaral, Rita;
- Inacio, Marlene;
- Brito, Vinicius N.;
- Bachega, Tania A. S. S.;
- Oliveira, Ari A.;
- Domenice, Sorahia;
- Denes, Francisco T.;
- Sircili, Maria Helena;
- Arnhold, Ivo J. P.;
- Madureira, Guiomar;
- Gomes, Larissa;
- Costa, Elaine M. F.;
- Mendonca, Berenice B.
Publication type:
Article
Quality of life of patients with 46, XX and 46, XY disorders of sex development.
Published in:
Clinical Endocrinology, 2015, v. 82, n. 2, p. 159, doi. 10.1111/cen.12561
By:
- Amaral, Rita Cassia;
- Inacio, Marlene;
- Brito, Vinicius N.;
- Bachega, Tania A. S. S.;
- Domenice, Sorahia;
- Arnhold, Ivo J. P.;
- Madureira, Guiomar;
- Gomes, Larissa;
- Costa, Elaine M. F.;
- Mendonca, Berenice B.
Publication type:
Article
46,XY disorders of sex development (DSD).
Published in:
2009
By:
- Mendonca, Berenice Bilharinho;
- Domenice, Sorahia;
- Arnhold, Ivo J. P.;
- Costa, Elaine M. F.
Publication type:
Other

Found: 16