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Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 5, p. e1797, doi. 10.1210/clinem/dgac064
By:
- Lisboa Gomes, Nathalia;
- Loch Batista, Rafael;
- Nishi, Mirian Y.;
- Marcondes Lerário, Antônio;
- Silva, Thatiana E.;
- de Moraes Narcizo, Amanda;
- Figueredo Benedetti, Anna Flávia;
- de Assis Funari, Mariana Ferreira;
- Faria Junior, José Antônio;
- Rodrigues Moraes, Daniela;
- Lousada Quintão, Lia Mesquita;
- Ribeiro Montenegro, Luciana;
- Martins Ferrari, Maria Teresa;
- Jorge, Alexander A.;
- Arnhold, Ivo J. P.;
- Frade Costa, Elaine Maria;
- Domenice, Sorahia;
- Bilharinho Mendonca, Berenice
Publication type:
Article
Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature.
Published in:
2013
By:
- Vasques, Gabriela A;
- Amano, Naoko;
- Docko, Ana J;
- Funari, Mariana F A;
- Quedas, Elisangela P S;
- Nishi, Mirian Y;
- Arnhold, Ivo J P;
- Hasegawa, Tomonobu;
- Jorge, Alexander A L
Publication type:
Journal Article
Steroidogenic Factor 1 Overexpression and Gene Amplification Are More Frequent in Adrenocortical Tumors from Children than from Adults.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 3, p. 1458, doi. 10.1210/jc.2009-2040
By:
- Almeida, Madson Q.;
- Soares, Ibere Cauduro;
- Ribeiro, Tamaya C.;
- Fragoso, Maria Candida B. V.;
- Marins, Lidiane V.;
- Wakamatsu, Alda;
- Ressio, Rodrigo A.;
- Nishi, Mirian Y.;
- Jorge, Alexander A. L.;
- Lerario, Antonio M.;
- Alves, Venancio A. F.;
- Mendonca, Berenice B.;
- Latronico, Ana Claudia
Publication type:
Article
Effectiveness of the combined recombinant human growth hormone and gonadotropin-releasing hormone analog therapy in pubertal patients with short stature due to SHOX deficiency.
Published in:
2010
By:
- Scalco, Renata C;
- Melo, Suzana S J;
- Pugliese-Pires, Patricia N;
- Funari, Mariana F A;
- Nishi, Mirian Y;
- Arnhold, Ivo J P;
- Mendonca, Berenice B;
- Jorge, Alexander A L
Publication type:
journal article
Familial Hyperestrogenism in Both Sexes: Clinical, Hormonal, and Molecular Studies of Two Siblings.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 7, p. 3027, doi. 10.1210/jc.2002-021780
By:
- MARTIN, REGINA M.;
- LIN, CHIN J.;
- NISHI, MIRIAN Y.;
- BILLERBECK, ANA ELISA C.;
- LATRONICO, ANA CLAUDIA;
- RUSSELL, DAVID W.;
- MENDONCA, BERENICE B.
Publication type:
Article
Familial Hyperestrogenism in Both Sexes: Clinical, Hormonal, and Molecular Studies of Two Siblings.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 7, p. 3027, doi. 10.1210/jc.2002-021780
By:
- MARTIN, REGINA M.;
- LIN, CHIN J.;
- NISHI, MIRIAN Y.;
- BILLERBECK, ANA ELISA C.;
- LATRONICO, ANA CLAUDIA;
- RUSSELL, DAVID W.;
- MENDONCA, BERENICE B.
Publication type:
Article
High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort.
Published in:
Journal of the Endocrine Society, 2022, v. 6, n. 9, p. 1, doi. 10.1210/jendso/bvac106
By:
- Crespo, Raiane P;
- Rocha, Thais P;
- Montenegro, Luciana R;
- Nishi, Mirian Y;
- Jorge, Alexander A L;
- Maciel, Gustavo A R;
- Baracat, Edmund;
- Latronico, Ana Claudia;
- Mendonca, Berenice B;
- Gomes, Larissa G
Publication type:
Article
Variants in 46,XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias.
Published in:
Sexual Development, 2022, v. 16, n. 1, p. 27, doi. 10.1159/000518091
By:
- Leitao Braga, Barbara;
- Lisboa Gomes, Nathalia;
- Nishi, Mirian Y.;
- Freire, Bruna L.;
- Batista, Rafael L.;
- D. Faria Junior, Jose A.;
- Funari, Mariana F.A.;
- Figueredo Benedetti, Anna F.;
- de Moraes Narcizo, Amanda;
- Cavalca Cardoso, Lais;
- Lerario, Antonio M.;
- Guerra-Junior, Gil;
- Frade Costa, Elaine M.;
- Domenice, Sorahia;
- Jorge, Alexander A.L.;
- Mendonca, Berenice B.
Publication type:
Article
WT1 Pathogenic Variants are Associated with a Broad Spectrum of Differences in Sex Development Phenotypes and Heterogeneous Progression of Renal Disease.
Published in:
2022
By:
- Ferrari, Maria T.M.;
- Watanabe, Andreia;
- da Silva, Thatiane E.;
- Gomes, Nathalia L.;
- Batista, Rafael L.;
- Nishi, Mirian Y.;
- de Paula, Leila C.P.;
- Costa, Eduardo C.;
- Costa, Elaine M.F.;
- Cukier, Priscilla;
- Onuchic, Luiz F.;
- Mendonca, Berenice B.;
- Domenice, Sorahia
Publication type:
Case Study
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
Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47,XXY Karyotype.
Published in:
Sexual Development, 2017, v. 11, n. 2, p. 78, doi. 10.1159/000468957
By:
- Batista, Rafael L.;
- Rodrigues, andresa S.;
- Nishi, Mirian Y.;
- Feitosa, alina C.R.;
- Gomes, Nathália L.R.a.;
- Junior, José antonia F.;
- Domenice, Sorahia;
- Costa, Elaine M.F.;
- de Mendonça, Berenice B.
Publication type:
Article
Discordant Genotypic Sex and Phenotype Variations in Two Spanish Siblings with 17α-Hydroxylase/17,20-Lyase Deficiency Carrying the Most Prevalent Mutated CYP17A1 Alleles of Brazilian Patients.
Published in:
Sexual Development, 2017, v. 11, n. 2, p. 70, doi. 10.1159/000468160
By:
- Fernández-Cancio, Mónica;
- García-García, Emilio;
- González-Cejudo, Carmen;
- Martínez-Maestre, María-angeles;
- Mangas-Cruz, Miguel-angel;
- Guerra-Junior, Gil;
- Pandi de Mello, Maricilda;
- arnhold, Ivo J.P.;
- Nishi, Mirian Y.;
- Bilharinho Mendonça, Berenice;
- García-arumí, Elena;
- audí, Laura;
- Tizzano, Eduardo;
- Carrascosa, antonio
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
Post-receptor IGF1 insensitivity restricted to the MAPK pathway in a Silver-Russell syndrome patient with hypomethylation at the imprinting control region on chromosome 11.
Published in:
European Journal of Endocrinology, 2012, v. 166, n. 3, p. 543, doi. 10.1530/EJE-11-0964
By:
- Montenegro, Luciana R.;
- Leal, Andrea C.;
- Coutinho, Debora C.;
- Valassi, Helena P. L.;
- Nishi, Mirian Y.;
- PArnhold, Ivo J.;
- Mendonca, Berenice B.;
- Jorge, Alexander A. L.
Publication type:
Article
Evaluation of SHOX defects in the era of next‐generation sequencing.
Published in:
Clinical Genetics, 2019, v. 96, n. 3, p. 261, doi. 10.1111/cge.13587
By:
- Funari, Mariana F.A.;
- Barros, Juliana S.;
- Santana, Lucas S.;
- Lerario, Antonio M.;
- Freire, Bruna L.;
- Homma, Thais K.;
- Vasques, Gabriela A.;
- Mendonca, Berenice B.;
- Nishi, Mirian Y.;
- Jorge, Alexander A.L.
Publication type:
Article
A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor‐1 (WT1) pathogenic variant.
Published in:
Clinical Genetics, 2019, v. 95, n. 1, p. 172, doi. 10.1111/cge.13459
By:
- Gomes, Nathalia L.;
- Silva, Juliana M.;
- Silva, Thatiana E.;
- Batista, Rafael L.;
- Faria Júnior, José A. D.;
- Moraes, Daniela;
- Costa, Elaine M.F.;
- Domenice, Sorahia;
- Nishi, Mirian Y.;
- Mendonca, Berenice B.;
- de Paula, Leila C.P.;
- Hemesath, Tatiana P.;
- Guaragna‐Filho, Guilherme;
- Leite, Júlio C.L.;
- Carvalho, Clarissa G.;
- Costa, Eduardo C.;
- Lerário, Antônio M.
Publication type:
Article
Androgen receptor mRNA analysis from whole blood: a low‐cost strategy for detection of androgen receptor gene splicing defects.
Published in:
Clinical Genetics, 2018, v. 94, n. 5, p. 489, doi. 10.1111/cge.13437
By:
- Silva, Juliana M.;
- Batista, Rafael Loch;
- De Santi Rodrigues, Andresa;
- Nishi, Mirian Y.;
- Costa, Elaine M.F.;
- Domenice, Sorahia;
- Carvalho, Luciani R.S.;
- Mendonca, Berenice B.
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
The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for SHOX Analysis.
Published in:
Hormone Research in Paediatrics, 2014, v. 80, n. 6, p. 449, doi. 10.1159/000355411
By:
- Malaquias, alexsandra C.;
- Scalco, Renata C.;
- Fontenele, Eveline G.P.;
- Costalonga, Everlayny F.;
- Baldin, alexandre D.;
- Braz, adriana F.;
- Funari, Mariana F.a.;
- Nishi, Mirian Y.;
- Guerra-Junior, Gil;
- Mendonca, Berenice B.;
- arnhold, Ivo J.P.;
- Jorge, alexander a.L.
Publication type:
Article
GH-Releasing Hormone Receptor Gene: A Novel Splice-Disrupting Mutation and Study of Founder Effects.
Published in:
Hormone Research in Paediatrics, 2012, v. 78, n. 3, p. 165, doi. 10.1159/000342760
By:
- Marui, Suemi;
- Trarbach, Ericka B.;
- Boguszewski, Margaret C.S.;
- França, Marcela M.;
- Jorge, Alexander A.L.;
- Inoue, Hiroshi;
- Nishi, Mirian Y.;
- de Lacerda Filho, Luiz;
- Aguiar-Oliveira, Manuel H.;
- Mendonca, Berenice B.;
- Arnhold, Ivo J.P.
Publication type:
Article
Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2019, v. 104, n. 7, p. 2827, doi. 10.1210/jc.2018-02485
By:
- Franca, Monica M.;
- Xingfa Han;
- Funari, Mariana F. A.;
- Lerario, Antonio M.;
- Nishi, Mirian Y.;
- Fontenele, Eveline G. P.;
- Domenice, Sorahia;
- Jorge, Alexander A. L.;
- Garcia-Galiano, David;
- Elias, Carol F.;
- Mendonca, Berenice B.
Publication type:
Article
Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency.
Published in:
2019
By:
- Franca, Monica M;
- Han, Xingfa;
- Funari, Mariana F A;
- Lerario, Antonio M;
- Nishi, Mirian Y;
- Fontenele, Eveline G P;
- Domenice, Sorahia;
- Jorge, Alexander A L;
- Garcia-Galiano, David;
- Elias, Carol F;
- Mendonca, Berenice B
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
Long‐term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis.
Published in:
Clinical Endocrinology, 2018, v. 89, n. 2, p. 164, doi. 10.1111/cen.13717
By:
- Gomes, Nathalia L.;
- Lerário, Antônio Marcondes;
- Machado, Aline Zamboni;
- Moraes, Daniela Rodrigues de;
- Silva, Thatiana Evilen da;
- Arnhold, Ivo J. P.;
- Batista, Rafael Loch;
- Faria Júnior, José Antônio Diniz;
- Costa, Elaine F.;
- Nishi, Mirian Y.;
- Inacio, Marlene;
- Domenice, Sorahia;
- Mendonca, Berenice B.
Publication type:
Article
Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations.
Published in:
Clinical Endocrinology, 2017, v. 87, n. 6, p. 725, doi. 10.1111/cen.13430
By:
- Madeira, Joao LO;
- Nishi, Mirian Y;
- Nakaguma, Marilena;
- Benedetti, Anna F;
- Biscotto, Isabela Peixoto;
- Fernandes, Thamiris;
- Pequeno, Thiago;
- Figueiredo, Thalita;
- Franca, Marcela M;
- Correa, Fernanda A;
- Otto, Aline P;
- Abrão, Milena;
- Miras, Mirta B;
- Santos, Silvana;
- Jorge, Alexander AL;
- Costalonga, Everlayny F;
- Mendonca, Berenice B;
- Arnhold, Ivo JP;
- Carvalho, Luciani R
Publication type:
Article

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