A. Rodrigues

发表

High frequency of non-classical congenital adrenal hyperplasia form among children with persistently elevated levels of 17-hydroxyprogesterone after newborn screening

I. Silva, T. Bachega, I. L. Pezzuti, 2019, Journal of pediatric endocrinology & metabolism : JPEM.

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: a review.

B. Mendonca, I. Arnhold, N. Gomes, 2018, Archives of endocrinology and metabolism.

Neonatal 17‐hydroxyprogesterone levels adjusted according to age at sample collection and birthweight improve the efficacy of congenital adrenal hyperplasia newborn screening

B. Mendonca, V. Brito, G. Madureira, 2017, Clinical endocrinology.

Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction.

H. Kuperman, D. Damiani, B. Mendonca, 2016, European journal of endocrinology.

Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing.

Jun Z. Li, S. Camper, B. Mendonca, 2017, Archives of endocrinology and metabolism.

Growth hormone deficiency with advanced bone age : phenotypic interaction between GHRH receptor and CYP 21 A 2 mutations diagnosed by sanger and whole exome sequencing

Jun Z. Li, S. Camper, B. Mendonca, 2017 .

A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome

B. Mendonca, N. Gomes, S. Domenice, 2017, The Journal of Steroid Biochemistry and Molecular Biology.

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

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

Progressive myopathy with a combined respiratory chain defect including Complex II

A. Oliveira, A. Gabbai, B. Schmidt, 2008, Journal of Neurological Sciences.

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.

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.

Androgen insensitivity syndrome: a review

I. Arnhold, N. Gomes, S. Domenice, 2018, Archives of endocrinology and metabolism.

Complex I spectrophotometric assay in cultured cells: detailed analysis of key factors.

C. Tengan, B. H. Kiyomoto, A. Rodrigues, 2013, Analytical biochemistry.

Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction.

H. Kuperman, D. Damiani, B. Mendonca, 2016, European journal of endocrinology.