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NPHS2 Mutations: A Closer Look to Latin American Countries.
Published in:
BioMed Research International, 2017, v. 2017, p. 1, doi. 10.1155/2017/7518789
By:
- Guaragna, Mara Sanches;
- Lutaif, Anna Cristina G. B.;
- Maciel-Guerra, Andréa T.;
- Belangero, Vera M. S.;
- Guerra-Júnior, Gil;
- De Mello, Maricilda P.
Publication type:
Article
Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes.
Published in:
Molecular Syndromology, 2017, v. 8, n. 4, p. 187, doi. 10.1159/000477084
By:
- Simioni, Milena;
- Artiguenave, François;
- Meyer, Vincent;
- Sgardioli, Ilária C.;
- Viguetti-Campos, Nilma L.;
- Monlleó, Isabella Lopes;
- Maciel-Guerra, Andréa T.;
- Steiner, Carlos E.;
- Gil-da-Silva-Lopes, Vera L.
Publication type:
Article
A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 1, p. 494, doi. 10.3390/ijms24010494
By:
- Francese-Santos, Ana Paula;
- Meinel, Jakob A.;
- Piveta, Cristiane S. C.;
- Andrade, Juliana G. R.;
- Barros, Beatriz A.;
- Fabbri-Scallet, Helena;
- Gil-da-Silva-Lopes, Vera Lúcia;
- Guerra-Junior, Gil;
- Künstner, Axel;
- Busch, Hauke;
- Hiort, Olaf;
- de Mello, Maricilda P.;
- Werner, Ralf;
- Maciel-Guerra, Andréa T.
Publication type:
Article
Can Non-Coding NR5A1 Gene Variants Explain Phenotypes of Disorders of Sex Development?
Published in:
Sexual Development, 2023, v. 17, n. 4-6, p. 252, doi. 10.1159/000524956
By:
- Fabbri-Scallet, Helena;
- Werner, Ralf;
- Guaragna, Mara S.;
- de Andrade, Juliana G.R.;
- Maciel-Guerra, Andrea T.;
- Hornig, Nadine C.;
- Hiort, Olaf;
- Guerra-Júnior, Gil;
- de Mello, Maricilda P.
Publication type:
Article
Trends in Time Regarding Sex Assignment of Patients with Disorders of Sex Development: Experience of an Interdisciplinary Service.
Published in:
Sexual Development, 2023, v. 17, n. 4-6, p. 236, doi. 10.1159/000520704
By:
- Vicentin, Julia P.;
- de Souza El Beck, Mayra;
- Germano, Carlos W.;
- Andrade, Juliana G. R.;
- Barros, Beatriz A.;
- de Paive e Silva, Roberto B.;
- Miranda, Marcio L.;
- Viguetti-Campos, Nilma L.;
- Vieira, Tarsis A. P.;
- Mazzola, Tais N.;
- Guaragna, Mara S.;
- Fabbri-Scallet, Helena;
- Mello, Maricilda P.;
- Marques-de-Faria, Antonia P.;
- Maciel-Guerra, Andrea T.;
- Guerra-Junior, Gil
Publication type:
Article
Suggested Cutoff Point for Testosterone by Liquid Chromatography with Tandem Mass Spectrometry (LC-MS/MS) after Stimulation with Recombinant Human Chorionic Gonadotropin.
Published in:
Sexual Development, 2023, v. 17, n. 4-6, p. 266, doi. 10.1159/000519422
By:
- de Oliveira, Leticia R.;
- Longui, Carlos A.;
- Guaragna-Filho, Guilherme;
- da Costa, José L.;
- Lanaro, Rafael;
- Chiamolera, Maria I.;
- de Mello, Maricilda P.;
- Morcillo, André M.;
- Maciel-Guerra, Andrea T.;
- Guerra-Junior, Gil
Publication type:
Article
Can Non-Coding NR5A1 Gene Variants Explain Phenotypes of Disorders of Sex Development?
Published in:
Sexual Development, 2022, v. 16, n. 4, p. 252, doi. 10.1159/000524956
By:
- Fabbri-Scallet, Helena;
- Werner, Ralf;
- Guaragna, Mara S.;
- de Andrade, Juliana G.R.;
- Maciel-Guerra, Andrea T.;
- Hornig, Nadine C.;
- Hiort, Olaf;
- Guerra-Júnior, Gil;
- de Mello, Maricilda P.
Publication type:
Article
Suggested Cutoff Point for Testosterone by Liquid Chromatography with Tandem Mass Spectrometry (LC-MS/MS) after Stimulation with Recombinant Human Chorionic Gonadotropin.
Published in:
Sexual Development, 2022, v. 16, n. 4, p. 266, doi. 10.1159/000519422
By:
- de Oliveira, Leticia R.;
- Longui, Carlos A.;
- Guaragna-Filho, Guilherme;
- da Costa, José L.;
- Lanaro, Rafael;
- Chiamolera, Maria I.;
- de Mello, Maricilda P.;
- Morcillo, André M.;
- Maciel-Guerra, Andrea T.;
- Guerra-Junior, Gil
Publication type:
Article
Trends in Time Regarding Sex Assignment of Patients with Disorders of Sex Development: Experience of an Interdisciplinary Service.
Published in:
Sexual Development, 2022, v. 16, n. 4, p. 236, doi. 10.1159/000520704
By:
- Vicentin, Julia P.;
- de Souza El Beck, Mayra;
- Germano, Carlos W.;
- Andrade, Juliana G. R.;
- Barros, Beatriz A.;
- de Paive e Silva, Roberto B.;
- Miranda, Marcio L.;
- Viguetti-Campos, Nilma L.;
- Vieira, Tarsis A. P.;
- Mazzola, Tais N.;
- Guaragna, Mara S.;
- Fabbri-Scallet, Helena;
- Mello, Maricilda P.;
- Marques-de-Faria, Antonia P.;
- Maciel-Guerra, Andrea T.;
- Guerra-Junior, Gil
Publication type:
Article
Association between Down Syndrome and Disorders of Sex Development: Report of Three Cases and Review of 188 Cases in the Literature.
Published in:
Sexual Development, 2020, v. 14, n. 1-6, p. 3, doi. 10.1159/000513415
By:
- Santos-Neto, Octavio O.;
- Mariano, Marina H.;
- Marques-de-Faria, Antonia P.;
- Andrade, Juliana G. R.;
- Vieira, Tarsis A. P.;
- Viguetti-Campos, Nilma L.;
- dos Santos, Ana P.;
- Mello, Maricilda P.;
- Mazzola, Tais N.;
- Guaragna, Mara S.;
- Fabbri-Scallet, Helena;
- Damiani, Durval;
- Steinmetz, Leandra;
- Ferreira, Marianna R.;
- Saito, Paula A.;
- Sievert, Jean C.;
- Maciel-Guerra, Andrea T.;
- Guerra-Junior, Gil
Publication type:
Article
Clinical Findings and Follow-Up of 46,XY and 45,X/46,XY Testicular Dysgenesis.
Published in:
Sexual Development, 2019, v. 13, n. 4, p. 171, doi. 10.1159/000504239
By:
- andrade, Juliana G.R.;
- Fabbri-Scallet, Helena;
- dos Santos, ana P.;
- Cools, Martine;
- Werner, Ralf;
- Hiort, Olaf;
- de Mello, Maricilda P.;
- Guerra-Júnior, Gil;
- Maciel-Guerra, andrea T.
Publication type:
Article
A Search for Disorders of Sex Development among Infertile Men.
Published in:
Sexual Development, 2018, v. 12, n. 6, p. 275, doi. 10.1159/000493877
By:
- Yabiku, Rafael S.;
- Guaragna, Mara S.;
- de Sousa, Lizandra M.;
- Fabbri-Scallet, Helena;
- Mazzola, Taís N.;
- Piveta, Cristiane S.C.;
- de Souza, Marcela L.;
- Guerra-Júnior, Gil;
- de Mello, Maricilda P.;
- Maciel-Guerra, andréa T.
Publication type:
Article
Imaging Techniques in the Diagnostic Journey of Disorders of Sex Development.
Published in:
Sexual Development, 2018, v. 12, n. 1-3, p. 95, doi. 10.1159/000479453
By:
- Guerra-Junior, Gil;
- Andrade, Kleber C.;
- Barcelos, Irene H.K.;
- Maciel-Guerra, Andréa T.
Publication type:
Article
Functional Impact of Novel Androgen Receptor Mutations on the Clinical Manifestation of Androgen Insensitivity Syndrome.
Published in:
Sexual Development, 2017, v. 11, n. 5/6, p. 238, doi. 10.1159/000484882
By:
- 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.
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
WT1 Haploinsufficiency Supports Milder Renal Manifestation in Two Patients with Denys-Drash Syndrome.
Published in:
Sexual Development, 2017, v. 11, n. 1, p. 34, doi. 10.1159/000454821
By:
- 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.
Publication type:
Article
NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations.
Published in:
Sexual Development, 2016, v. 10, n. 4, p. 191, doi. 10.1159/000448013
By:
- Fabbri, Helena C.;
- Ribeiro de andrade, Juliana G.;
- Maciel-Guerra, andréa T.;
- Guerra-Júnior, Gil;
- de Mello, Maricilda P.
Publication type:
Article
Preserved Fertility in a Patient with Gynecomastia Associated with the p.Pro695Ser Mutation in the Androgen Receptor.
Published in:
Sexual Development, 2015, v. 8, n. 6, p. 350, doi. 10.1159/000368862
By:
- Petroli, Reginaldo J.;
- Hiort, Olaf;
- Struve, Dagmar;
- Maciel-Guerra, andréa T.;
- Guerra-Júnior, Gil;
- Palandi de Mello, Maricilda;
- Werner, Ralf
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
Clinical and cytogenetic features of 516 patients with suspected Turner syndrome – a single-center experience.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2018, v. 31, n. 2, p. 167, doi. 10.1515/jpem-2017-0273
By:
- Carvalho, Annelise B.;
- Lemos-Marini, Sofia H.V.;
- Guerra-Junior, Gil;
- Maciel-Guerra, Andréa T.
Publication type:
Article
New approach to phenotypic variability and karyotype-phenotype correlation in Turner syndrome.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 4, p. 475, doi. 10.1515/jpem-2015-0346
By:
- Miguel-Neto, Jamil;
- Carvalho, Annelise B.;
- Marques-de-Faria, Antonia Paula;
- Guerra-Júnior, Gil;
- Maciel-Guerra, Andréa T.
Publication type:
Article
Prader-Willi syndrome: a case report with atypical developmental features.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2014, v. 27, n. 6/10, p. 983, doi. 10.1515/jpem-2013-0500
By:
- Sewaybricker, Letícia E.;
- Guaragna-Filho, Guilherme;
- Paula, Georgette B.;
- Andrade, Juliana G.R.;
- Tincani, Bruna J.;
- D'Souza-Li, Lília;
- Lemos-Marini, Sofia H.V.;
- Maciel-Guerra, Andréa T.;
- Guerra-Júnior, Gil
Publication type:
Article
Turner's Syndrome and Subclinical Autoimmune Thyroid Disease A Two-Year Follow-up Study.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2009, v. 22, n. 2, p. 109, doi. 10.1515/JPEM.2009.22.2.109
By:
- Medeiros, Carla C.M.;
- de Lemos-Marini, Sofia H.V.;
- Filho, Milton Bricola;
- Camargo, Edwaldo E.;
- Santos, Allan O.;
- Magna, Luis A.;
- Guerra-Jünior, Gil;
- Baptista, Maria Tereza M.;
- Maciel-Guerra, Andréa T.
Publication type:
Article
Clinical practice guidelines for the care of girls and women with Turner syndrome: Proceedings from the 2023 Aarhus International Turner Syndrome Meeting.
Published in:
European Journal of Endocrinology, 2024, v. 190, n. 6, p. G53, doi. 10.1093/ejendo/lvae050
By:
- Gravholt, Claus H;
- Andersen, Niels H;
- Christin-Maitre, Sophie;
- Davis, Shanlee M;
- Duijnhouwer, Anthonie;
- Gawlik, Aneta;
- Maciel-Guerra, Andrea T;
- Gutmark-Little, Iris;
- Fleischer, Kathrin;
- Hong, David;
- Klein, Karen O;
- Prakash, Siddharth K;
- Shankar, Roopa Kanakatti;
- Sandberg, David E;
- Sas, Theo C J;
- Skakkebæk, Anne;
- Stochholm, Kirstine;
- Velden, Janielle A van der;
- Group, The International Turner Syndrome Consensus;
- Backeljauw, Philippe F
Publication type:
Article
Severe forms of partial androgen insensitivity syndrome due to p.L830F novel mutation in androgen receptor gene in a Brazilian family.
Published in:
BMC Research Notes, 2011, v. 4, n. 1, p. 173, doi. 10.1186/1756-0500-4-173
By:
- Petroli, Reginaldo J.;
- Maciel-Guerra, Andréa T.;
- Soardi, Fernanda C.;
- de Calais, Flávia L.;
- Guerra-Junior, Gil;
- de Mello, Maricilda Palandi
Publication type:
Article
Diagnosis of 5α-Reductase Type 2 Deficiency: Contribution of Anti-Miillerian Hormone Evaluation.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2005, v. 18, n. 12, p. 1383
By:
- Stuchi-Perez, Eliana G.;
- Hackel, Christine;
- Oliveira, Luiz Eduardo C.;
- Ferraz, Lucio F. C.;
- Oliveira, Laurione C.;
- Nunes-Silva, Daniela;
- Toralles, Maria Betania;
- Steinmetz, Leandra;
- Damiani, Durval;
- Maciel-Guerra, Andrea T.;
- Guerra-Junior, Gil
Publication type:
Article
Patients with genital ambiguity referred without a sex definition: the relationship between clinical picture and defined sex of rearing.
Published in:
Jornal de Pediatria, 2024, v. 100, n. 6, p. 609, doi. 10.1016/j.jped.2024.05.001
By:
- Santos, Henrique C.;
- Barros, Beatriz A.;
- El-Beck, Mayra S.;
- Miranda, Marcio L.;
- Guaragna, Mara S.;
- Fabbri-Scallet, Helena;
- Mazzola, Taís N.;
- Vieira, Tarsis P.;
- Mello, Maricilda P.;
- Marques-de-Faria, Antonia P.;
- Maciel-Guerra, Andrea T.;
- Guerra-Junior, Gil
Publication type:
Article
Why pediatricians need to know the disorders of sex development: experience of 709 cases in a specialized service.
Published in:
Jornal de Pediatria, 2020, v. 96, n. 5, p. 607, doi. 10.1016/j.jped.2019.04.007
By:
- de Souza El Beck, Mayra;
- Germano, Carlos W.;
- Barros, Beatriz A.;
- Andrade, Juliana G. R.;
- Guaragna-Filho, Guilherme;
- Paula, Georgette B.;
- Miranda, Márcio L.;
- Guaragna, Mara S.;
- Fabbri-Scallet, Helena;
- Mazzola, Tais N.;
- Viguetti-Campos, Nilma L.;
- Vieira, Társis A. P.;
- Lemos-Marini, Sofia H. V.;
- Marques-de-Faria, Antonia P.;
- Paiva e Silva, Roberto B.;
- Mello, Maricilda P.;
- Maciel-Guerra, Andréa T.;
- Guerra-Júnior, Gil
Publication type:
Article
Prevalence of genital abnormalities in neonates.
Published in:
Jornal de Pediatria, 2012, v. 88, n. 6, p. 489, doi. 10.2223/jped.2237
By:
- Monlleó, Isabella L.;
- Zanotti, Susane V.;
- de Araújo, Bárbara Priscila B.;
- Cavalcante Júnior, Erisvaldo F.;
- Pereira, Paula D.;
- de Barros, Paulo M.;
- Araújo, Maria Deysiane P.;
- de Mendonça, Ana Thaysa V. S.;
- Santos, Catarina R. S.;
- dos Santos, Ylana R.;
- de Paula Michelatto, Débora;
- de Mello, Maricilda P.;
- Maciel-Guerra, Andrea T.;
- Guerra-Júnior, Gil
Publication type:
Article
Klinefelter syndrome: an unusual diagnosis in pediatric patients.
Published in:
Jornal de Pediatria, 2012, v. 88, n. 4, p. 323, doi. 10.2223/JPED.2208
By:
- Tincani, Bruna J.;
- Mascagni, Bruno R.;
- Pinto, Roberto D. P.;
- Guaragna-Filho, Guilherme;
- Castro, Carla C.T.S.;
- Sewaybricker, Letícia E.;
- Viguetti-Campos, Nilma L.;
- Marques-de-Faria, Antonio P.;
- Maciel-Guerra, Andréa T.;
- Guerra-Júnior, Gil
Publication type:
Article
NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described.
Published in:
Nephrology, 2016, v. 21, n. 9, p. 753, doi. 10.1111/nep.12667
By:
- Guaragna, Mara S.;
- Cleto, Thaís Lira;
- Souza, Marcela Lopes;
- Lutaif, Anna Cristina G.B.;
- Castro, Luiz Cláudio Gonçalves;
- Penido, Maria Goretti Moreira Guimarães;
- Maciel‐Guerra, Andréa T.;
- Belangero, Vera M.S.;
- Guerra‐Junior, Gil;
- De Mello, Maricilda P.
Publication type:
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
NPHS2 mutations account for only 15 % of nephrotic syndrome cases.
Published in:
BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0231-9
By:
- Sanches Guaragna, Mara;
- Lutaif, Anna Cristina G. B.;
- Piveta, Cristiane S. C.;
- Souza, Marcela L.;
- de Souza, Suéllen R.;
- Henriques, Taciane B.;
- Maciel-Guerra, Andréa T.;
- Belangero, Vera M. S.;
- Guerra-Junior, Gil;
- De Mello, Maricilda P.
Publication type:
Article

Found: 33