E. Costa

发表

Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene.

A. Latronico, B. Mendonca, I. Arnhold, 2003, The Journal of clinical endocrinology and metabolism.

Reprint of “Steroid 5α-reductase 2 deficiency”

D. Russell, B. Mendonca, I. Arnhold, 2017, The Journal of Steroid Biochemistry and Molecular Biology.

46,XY Disorders of Sexual Development

B. Mendonca, I. Arnhold, S. Domenice, 2013 .

Management of ambiguous genitalia in pseudohermaphrodites: new perspectives on vaginal dilation.

B. B. Mendonça, I. Arnhold, F. A. Silva, 1997, Fertility and sterility.

Male pseudohermaphroditism due to 5α-reductase 2 deficiency: Outcome of a Brazilian cohort

D. Russell, B. Mendonca, I. Arnhold, 2003 .

Physiology of Male Gonadotropic Axis and Disorders of Sex Development

B. Mendonca, E. Costa, 2017 .

TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood.

R. Quinton, W. Crowley, M. de Castro, 2010, The Journal of clinical endocrinology and metabolism.

A novel point mutation (R840S) in the androgen receptor in a Brazilian family with partial androgen insensitivity syndrome

A. Latronico, B. Mendonca, I. Arnhold, 1999, Human mutation.

P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping.

C. Longui, B. Mendonca, R. Martin, 2003, The Journal of clinical endocrinology and metabolism.

Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a homozygous 25 BP duplication (NT 4157-4181) at exon 5 in the CYP17 resulting in a premature stop codon predicted by molecular modeling.

B. Mendonca, I. Arnhold, R. Martin, 2008, Arquivos brasileiros de endocrinologia e metabologia.

XY disorders of sex development

B. Mendonca, I. Arnhold, S. Domenice, 2008 .

Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development

B. Mendonca, N. Gomes, A. Biason-Lauber, 2018, Molecular genetics & genomic medicine.

Steroid 5α-reductase 2 deficiency

D. Russell, B. Mendonca, I. Arnhold, 2016, The Journal of Steroid Biochemistry and Molecular Biology.

The clinical, structural, and biological features of neovaginas: a comparison of the Frank and the McIndoe techniques.

E. Baracat, B. Mendonca, Â. M. da Fonseca, 2015, European Journal of Obstetrics, Gynecology, and Reproductive Biology.

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

B. Mendonca, I. Arnhold, R. Martin, 2022 .

46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency

B. Mendonca, R. Martin, F. Carvalho, 2017, The Journal of Steroid Biochemistry and Molecular Biology.

Chapter 3K – 46,XY DSD due to 17β-Hydroxysteroid Dehydrogenase 3 Deficiency

B. Mendonca, R. Martin, F. Carvalho, 2014 .

Male Pseudohermaphroditism due to 17&bgr;‐Hydroxysteroid Dehydrogenase 3 Deficiency: Diagnosis, Psychological Evaluation, and Management

B. Mendonca, M. Inácio, I. Arnhold, 2000, Medicine.

Malignant testicular germ cell tumors in postpubertal individuals with androgen insensitivity: prevalence, pathology and relevance of single nucleotide polymorphism-based susceptibility profiling

H. Stoop, A. Gillis, L. Looijenga, 2017, Human reproduction.

Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients.

E. Vilain, B. Mendonca, I. Arnhold, 2004, Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas.

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

B. Mendonca, I. Arnhold, F. Dénes, 2014, Clinical endocrinology.

[Androgen insensitivity syndrome: clinical, hormonal and molecular analysis of 33 cases].

A. Latronico, B. Mendonca, I. Arnhold, 2005, Arquivos brasileiros de endocrinologia e metabologia.

Clinical and molecular analysis of human reproductive disorders in Brazilian patients.

A. Latronico, S. Domenice, B. B. Mendonça, 2004, Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas.

A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor‐1 (WT1) pathogenic variant

A. Lerário, B. Mendonca, N. Gomes, 2018, Clinical genetics.

A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism.

G. Guerra‐Júnior, M. de Castro, U. Kaiser, 2010, European journal of endocrinology.

Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay.

R. Carroll, J. Wen, U. Kaiser, 2014, Fertility and sterility.

Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction.

G. Bédécarrats, U. Kaiser, A. Latronico, 2001, The Journal of clinical endocrinology and metabolism.

The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.

W. Crowley, S. Seminara, E. Schipani, 2001, The Journal of clinical endocrinology and metabolism.

Height and bone mineral density in androgen insensitivity syndrome with mutations in the androgen receptor gene

B. Mendonca, I. Arnhold, D. Danilovic, 2007, Osteoporosis International.

Identification of the first homozygous 1‐bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing

B. Mendonca, S. Domenice, M. França, 2018, Clinical genetics.

Effects of Interactive Musical Activities on the Well-being of Children with Urogenital Anomalies during Hospitalization for Surgery

B. Mendonca, M. Inácio, E. M. Costa, 2015 .

Diagnosis of prolactinoma in two male‐to‐female transsexual subjects following high‐dose cross‐sex hormone therapy

L. Gooren, E. M. Costa, S. Domenice, 2015, Andrologia.

A severe phenotype of Kennedy disease associated with a very large CAG repeat expansion

G. Chadi, B. Mendonca, N. Gomes, 2018, Muscle & nerve.

Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor

B. Mendonca, S. Domenice, M. Nishi, 2017, Journal of pediatric endocrinology & metabolism : JPEM.

Polymorphisms identified in the upstream core polyadenylation signal of IGF1 gene exon 6 do not cause pre- and postnatal growth impairment.

D. Damiani, B. Mendonca, I. Arnhold, 2007, The Journal of clinical endocrinology and metabolism.

Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47,XXY Karyotype

N. Gomes, S. Domenice, R. Batista, 2017, Sexual Development.

High degree of discordance between three-dimensional and two-dimensional lumbar spine bone mineral density in Turner's syndrome.

B. Mendonca, B. Liberman, M. Lazaretti-Castro, 2005, Journal of clinical densitometry : the official journal of the International Society for Clinical Densitometry.

Male pseudohermaphroditism due to steroid 5alpha-reductase 2 deficiency. Diagnosis, psychological evaluation, and management.

J. D. Wilson, D. Russell, B. Mendonca, 1996, Medicine.

Mobile DNA in Endocrinology: LINE-1 retrotransposon causing Partial Androgen Insensitivity Syndrome.

H. Kazazian, B. Mendonca, J. Goodier, 2019, The Journal of clinical endocrinology and metabolism.

[Androgen insensitivity syndrome: clinical, hormonal and molecular analysis of 33 cases].

A. Latronico, B. Mendonca, I. Arnhold, 2005, Arquivos brasileiros de endocrinologia e metabologia.

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.

B. Mendonca, I. Arnhold, R. Martin, 2002 .