Mendonca, Berenice B.

Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma

Zheng, S., Cherniack, A. D., Dewal, N., Moffitt, R. A., Danilova, L., Murray, B. A., Lerario, A. M., Else, T., Knijnenburg, T. A., Ciriello, G., et al. (2016) · Cancer Cell

Adrenal and Paraganglionic TumorsChromatin Remodeling and Cancer

Cited by 657

A GPR54 -Activating Mutation in a Patient with Central Precocious Puberty

Teles, M. G., Bianco, S. D. C., Brito, V. N., Trarbach, E. B., Kuohung, W., Xu, S., Seminara, S. B., Mendonca, B. B., Kaiser, U. B., & Latronico, A. C. (2008) · New England Journal of Medicine

Hypothalamic control of reproductive hormonesSexual Differentiation and Disorders

Cited by 572

Male pseudohermaphroditism caused by mutations of testicular 17β-hydroxysteroid dehydrogenase 3

Geissler, W. M., Davis, D. L., Wu, L., Bradshaw, K. D., Patel, S., Mendonca, B. B., Elliston, K. O., Wilson, J. D., Russell, D. W., & Andersson, S. (1994) · Nature Genetics

Sexual Differentiation and DisordersGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Cited by 570

Central Precocious Puberty Caused by Mutations in the Imprinted Gene MKRN3

Abreu, A. P., Dauber, A., Macedo, D. B., Noel, S. D., Brito, V. N., Gill, J. C., Cukier, P., Thompson, I. R., Navarro, V. M., Gagliardi, P. C., et al. (2013) · New England Journal of Medicine

Hypothalamic control of reproductive hormonesGenetic Syndromes and Imprinting

Cited by 534

Molecular genetics of steroid 5 alpha-reductase 2 deficiency

Thigpen, A. E., Davis, D. L., Milatovich, A., Mendonca, B. B., Imperato-McGinley, J., Griffin, J. E., Francke, U., Wilson, J. D., & Russell, D. W. (1992) · Journal of Clinical Investigation

Sexual Differentiation and DisordersUrological Disorders and Treatments

Cited by 422

Mutations of the KISS1 gene in disorders of puberty

Silveira, L. G., Noel, S. D., Silveira-Neto, A. P., Abreu, A. P., Brito, V. N., Santos, M. G., Bianco, S. D. C., Kuohung, W., Xu, S., Gryngarten, M., et al. (2010) · The Journal of Clinical Endocrinology & Metabolism

Hypothalamic control of reproductive hormonesGrowth Hormone and Insulin-like Growth Factors

Cited by 352

An inherited mutation outside the highly conserved DNA-binding domain of the p53 tumor suppressor protein in children and adults with sporadic adrenocortical tumors

Latronico, A. C., Pinto, E. M., Domenice, S., Fragoso, M. C. B. V., Martin, R. M., Zerbini, M. C., Lucon, A. M., & Mendonca, B. B. (2001) · The Journal of Clinical Endocrinology & Metabolism

Adrenal and Paraganglionic TumorsCancer-related Molecular Pathways

Cited by 224

21-Hydroxylase-deficient nonclassic adrenal hyperplasia is a progressive disorder: a multicenter study

Moran, C., Azziz, R., Carmina, E., Dewailly, D., Fruzzetti, F., Ibañez, L., Knochenhauer, E. S., Marcondes, J. A. M., Mendonca, B. B., Pignatelli, D., et al. (2000) · American Journal of Obstetrics and Gynecology

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 185

Expression of insulin-like growth factor-II and its receptor in pediatric and adult adrenocortical tumors

Almeida, M. Q., Fragoso, M. C. B. V., Lotfi, C. F. P., Santos, M. G., Nishi, M. Y., Costa, M. H. S., Lerario, A. M., Maciel, C. C., Mattos, G. E., Jorge, A. A. L., et al. (2008) · The Journal of Clinical Endocrinology & Metabolism

Adrenal and Paraganglionic TumorsGrowth Hormone and Insulin-like Growth Factors

Cited by 176

Reproductive outcome of women with 21-hydroxylase-deficient nonclassic adrenal hyperplasia

Moran, C., Azziz, R., Weintrob, N., Witchel, S. F., Rohmer, V., Dewailly, D., Marcondes, J. A. M., Pugeat, M., Speiser, P. W., Pignatelli, D., et al. (2006) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 174

Comprehensive pan-genomic characterization of adrenocortical carcinoma

Zheng, S., Cherniack, A. D., Dewal, N., Moffitt, R. A., Danilova, L., Murray, B. A., Lerario, A. M., Else, T., Knijnenburg, T. A., Ciriello, G., et al. (2016) · Cancer Cell

Adrenal and Paraganglionic TumorsChromatin Remodeling and Cancer

Cited by 165

ARMC5 Mutations Are a Frequent Cause of Primary Macronodular Adrenal Hyperplasia

Alencar, G. A., Lerario, A. M., Nishi, M. Y., Mariani, B. M. D. P., Almeida, M. Q., Tremblay, J., Hamet, P., Bourdeau, I., Zerbini, M. C. N., Pereira, M. A. A., et al. (2014) · The Journal of Clinical Endocrinology & Metabolism

Adrenal and Paraganglionic TumorsAdrenal Hormones and Disorders

Cited by 162

Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3

Macedo, D. B., Abreu, A. P., Reis, A. C. S., Montenegro, L. R., Dauber, A., Beneduzzi, D., Cukier, P., Silveira, L. F. G., Teles, M. G., Carroll, R. S., et al. (2014) · The Journal of Clinical Endocrinology & Metabolism

Hypothalamic control of reproductive hormonesGenetic Syndromes and Imprinting

Cited by 140

Male Pseudohermaphroditism due to 17β-Hydroxysteroid Dehydrogenase 3 Deficiency: Diagnosis, Psychological Evaluation, and Management

Mendonca, B. B., Inacio, M., Arnhold, I. J. P., Costa, E. M. F., Bloise, W., Martin, R. M., Denes, F. T., Silva, F. A. Q., Andersson, S., Lindqvist, A., et al. (2000) · Medicine

Sexual Differentiation and DisordersGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Cited by 139

Loss-of-Function Mutations in the Genes Encoding Prokineticin-2 or Prokineticin Receptor-2 Cause Autosomal Recessive Kallmann Syndrome

Abreu, A. P., Trarbach, E. B., de Castro, M., Frade Costa, E. M., Versiani, B., Matias Baptista, M. T., Garmes, H. M., Mendonca, B. B., & Latronico, A. C. (2008) · The Journal of Clinical Endocrinology & Metabolism

Hypothalamic control of reproductive hormonesOlfactory and Sensory Function Studies

Cited by 122

Molecular Genotyping in Brazilian Patients with the Classical and Nonclassical Forms of 21-Hydroxylase Deficiency1

Bachega, T. A. S. S., Billerbeck, A. E. C., Madureira, G., Marcondes, J. A. M., Longui, C. A., Leite, M. V., Arnhold, I. J. P., & Mendonca, B. B. (1998) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 108

Combined expression of BUB1B, DLGAP5, and PINK1 as predictors of poor outcome in adrenocortical tumors: validation in a Brazilian cohort of adult and pediatric patients

Fragoso, M. C. B. V., Almeida, M. Q., Mazzuco, T. L., Mariani, B. M. P., Brito, L. P., Gonçalves, T. C., Alencar, G. A., Lima, L. D. O., Faria, A. M., Bourdeau, I., et al. (2012) · European Journal of Endocrinology

Adrenal and Paraganglionic TumorsSarcoma Diagnosis and Treatment

Cited by 93

Refining Hormonal Diagnosis of Type II 3β-Hydroxysteroid Dehydrogenase Deficiency in Patients with Premature Pubarche and Hirsutism Based on HSD3B2 Genotyping

Mermejo, L. M., Elias, L. L. K., Marui, S., Moreira, A. C., Mendonca, B. B., & de Castro, M. (2005) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 91

Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Bachega, T. A. S. S., Billerbeck, A. E. C., Marcondes, J. A. M., Madureira, G., Arnhold, I. J. P., & Mendonca, B. B. (2000) · Clinical Endocrinology

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 90

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

de Carvalho, D. F., Miranda, M. C., Gomes, L. G., Madureira, G., Marcondes, J. A. M., Billerbeck, A. E. C., Rodrigues, A. S., Presti, P. F., Kuperman, H., Damiani, D., et al. (2016) · European Journal of Endocrinology

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 75

Microconversion between CYP21A2 and CYP21A1P Promoter Regions Causes the Nonclassical Form of 21-Hydroxylase Deficiency

Araújo, R. S., Mendonca, B. B., Barbosa, A. S., Lin, C. J., Marcondes, J. A. M., Billerbeck, A. E. C., & Bachega, T. A. S. S. (2007) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 70

Three Novel Mutations in CYP21 Gene in Brazilian Patients with the Classical Form of 21-Hydroxylase Deficiency Due to a Founder Effect

Billerbeck, A. E. C., Mendonca, B. B., Pinto, E. M., Madureira, G., Arnhold, I. J. P., & Bachega, T. A. S. S. (2002) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 65

Classic congenital adrenal hyperplasia and its impact on reproduction

Gomes, L. G., Bachega, T. A. S. S., & Mendonca, B. B. (2019) · Fertility and Sterility

Sexual Differentiation and DisordersOvarian function and disorders

Cited by 58

Plasma renin measurements are unrelated to mineralocorticoid replacement dose in patients with primary adrenal insufficiency

Pofi, R., Prete, A., Thornton-Jones, V., Bryce, J., Ali, S. R., Faisal Ahmed, S., Balsamo, A., Baronio, F., Cannuccia, A., Guven, A., et al. (2020) · The Journal of Clinical Endocrinology & Metabolism

Adrenal Hormones and DisordersHormonal Regulation and Hypertension

Cited by 53