B. Mendonca

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XAF1 as a modifier of p53 function and cancer susceptibility

Shondra M. Pruett-Miller, Mark George Thomas, M. Yeager, 2020, Science Advances.

No evidence for oncogenic mutations in the adrenocorticotropin receptor gene in human adrenocortical neoplasms.

C. Tsigos, G. Chrousos, B. Allolio, 1995, The Journal of clinical endocrinology and metabolism.

Molecular genetics of steroid 5 alpha-reductase 2 deficiency.

U. Francke, D. Russell, J. Wilson, 1992, The Journal of clinical investigation.

Low-dose oral clonidine: effective growth hormone releasing agent in children but not in adolescents.

W. Bloise, F. D'Abronzo, B. Mendonca, 1987, The Journal of pediatrics.

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

V. Rohmer, D. Pignatelli, R. Azziz, 2000, American journal of obstetrics and gynecology.

ACTH-Independent Cushing’s Syndrome: Adrenocortical Tumors

A. Latronico, S. Domenice, B. Mendonca, 2010 .

Diagnostic value of fluorometric assays in the evaluation of precocious puberty.

A. C. Thirone, A. Latronico, I. Arnhold, 1999, The Journal of clinical endocrinology and metabolism.

Ectopic adrenocorticotropic hormone syndrome.

M. Kirschner, B. Wajchenberg, A. Wakamatsu, 1994, Endocrine reviews.

Mutation analysis of the 2 kb 5' to SRY in XY females and XY intersex subjects.

C. Tyler-Smith, P. Goodfellow, I. Hughes, 1996, Journal of medical genetics.

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

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

Natural mutagenesis study of the human steroid 5α-reductase 2 isozyme

D. Russell, M. New, I. Mowszowicz, 1994 .

Ectopic ACTH syndrome

M. Kirschner, B. Wajchenberg, M. Pereira, 1995, The Journal of Steroid Biochemistry and Molecular Biology.

Natural mutagenesis study of the human steroid 5 alpha-reductase 2 isozyme.

D. Russell, J. Wilson, M. New, 1994, Biochemistry.

Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency.

Russell, Daphné, J. Wilson, 1996, The Journal of clinical endocrinology and metabolism.

Glucocorticoid receptor gene polymorphisms in ACTH‐secreting pituitary tumours

A. Cukiert, H. Machado, A. Moreira, 2002, Clinical endocrinology.

The effect of fetal androgen metabolism‐related gene variants on external genitalia virilization in congenital adrenal hyperplasia

C. Longui, M. de Mello, A. Jorge, 2013, Clinical genetics.

A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty.

Xuebo Liu, A. Abell, A. Latronico, 1998, The Journal of clinical endocrinology and metabolism.

Weight-adjusted neonatal 17OH-progesterone cutoff levels improve the efficiency of newborn screening for congenital adrenal hyperplasia.

V. Brito, B. Mendonca, T. Bachega, 2011, Arquivos brasileiros de endocrinologia e metabologia.

Testicular and Ovarian Resistance to Luteinizing Hormone Caused by Inactivating Mutations of the Luteinizing Hormone–Receptor Gene

C. Tsigos, G. Chrousos, M. Castro, 1996 .

Apparent mineralocorticoid excess in a Brazilian kindred: hypertension in the heterozygote state

C. Shackleton, P. Stewart, Z. Krozowski, 1997, Journal of hypertension.

21-Hydroxylase deficiency in Brazil.

C. Longui, I. Arnhold, B. Mendonca, 2000, Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas.

Anti-corpus luteum antibody: a novel serological marker for ovarian dysfunction in systemic lupus erythematosus?

E. Bonfá, S. Pasoto, B. Mendonca, 1999, The Journal of rheumatology.

Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid‐binding domain

C. Migeon, T. Brown, B. Mendonca, 1995, Human mutation.

Pituitary Apoplexy During Therapy with Cabergoline in an Adolescent Male with Prolactin-Secreting Macroadenoma

B. Mendonca, M. Knoepfelmacher, M. E. Melo, 2005, Pituitary.

Lack of reduction in body fat after treatment with insulin-like growth factor-I in two children with growth hormone gene deletions

A. Bianco, B. Mendonca, A. Carrilho, 2000, Journal of endocrinological investigation.

Deletion mapping of chromosome 17 in benign and malignant adrenocortical tumors associated with the Arg337His mutation of the p53 tumor suppressor protein.

E. Pinto, A. Latronico, M. Fragoso, 2005, The Journal of clinical endocrinology and metabolism.

Genetics, clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from Sao Paulo, Brazil

C. Stratakis, A. Jorge, G. Trivellin, 2020, Pituitary.

Women with steroid 5 alpha-reductase 2 deficiency have normal concentrations of plasma 5 alpha-dihydroprogesterone during the luteal phase.

D. Russell, J. Wilson, A. Wallace, 1995, The Journal of clinical endocrinology and metabolism.

Male pseudohermaphroditism due to 5 alpha reductase deficiency associated with gynecomastia.

W. Bloise, B. Mendonca, M. C. Batista, 1987, Revista do Hospital das Clinicas.

Male pseudohermaphroditism due to nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency: gender role change and absence of gynecomastia at puberty.

I. Arnhold, W. Bloise, B. Mendonca, 1987, Journal of steroid biochemistry.

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.

Founder effect for the highly prevalent R337H mutation of tumor suppressor p53 in Brazilian patients with adrenocortical tumors.

E. Pinto, A. Latronico, S. Domenice, 2004, Arquivos brasileiros de endocrinologia e metabologia.

17 b -Hydroxysteroid Dehydrogenase-3 Deficiency: Diagnosis, Phenotypic Variability, Population Genetics, and Worldwide Distribution of Ancient and de Novo Mutations*

H. Kayserili, L. Sandkuijl, H. Delemarre-van de Waal, 1999 .

Spironolactone-reversible rickets associated with 11 beta-hydroxysteroid dehydrogenase deficiency syndrome.

W. Bloise, C. Kater, B. Mendonca, 1986, The Journal of pediatrics.

No evidence of somatic activating mutations on gonadotropin receptor genes in sex cord stromal tumors.

A. Latronico, F. Carvalho, M. Fragoso, 2000, Fertility and sterility.

Calcium-dependent protein kinase-C activity in human adrenocortical neoplasms, hyperplastic adrenals, and normal adrenocortical tissue.

A. Bianco, A. Latronico, B. Wajchenberg, 1994, The Journal of clinical endocrinology and metabolism.

Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene.

C. Tsigos, G. Chrousos, M. Castro, 1996, The New England journal of medicine.

Prepubertal male pseudohermaphroditism due to 17-ketosteroid reductase deficiency: diagnostic value of a hCG test and lack of HLA association

I. Arnhold, W. Bloise, B. Mendonca, 1988, Journal of endocrinological investigation.

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

E. Pinto, A. Latronico, R. M. Martin, 2001, The Journal of clinical endocrinology and metabolism.

CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia

L. Gomes, B. Mendonca, J. Marcondes, 2013, Hormone and Metabolic Research.

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

V. Rohmer, F. Keleştimur, D. Pignatelli, 2007, The Journal of clinical endocrinology and metabolism.

Genotyping of the type II 3β-hydroxysteroid dehydrogenase gene (HSD3B2) in women with hirsutism and elevated ACTH-stimulated δ5-steroids

S. Marui, B. Mendonca, I. Dick-de-Paula, 2000 .

The effects of spironolactone on testosterone fractions and sex-hormone binding globulin binding capacity in hirsute women

M. Kirschner, B. Wajchenberg, M. Nery, 1995, Journal of endocrinological investigation.

A novel nonsense mutation in the first zinc finger of the vitamin D receptor causing hereditary 1,25-dihydroxyvitamin D3-resistant rickets.

A. Latronico, B. Mendonca, M. Leite, 1997, The Journal of clinical endocrinology and metabolism.

Phenotypic variability and origins of mutations in the gene encoding 3beta-hydroxysteroid dehydrogenase type II.

J. Varley, R. Fisher, R. Sutcliffe, 2000, Journal of molecular endocrinology.

Identification of nonclassical 21-hydroxylase deficiency in girls with precocious pubarche

W. Bloise, B. Mendonca, V. Estefan, 1991, Journal of endocrinological investigation.

females and XY intersex subjects . Mutation analysis of the 2 kb 5 ' to SRY in XY

C. Tyler-Smith, P. Goodfellow, I. Hughes, 2022 .

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

E. Pinto, A. Latronico, B. Mendonca, 2001, The Journal of clinical endocrinology and metabolism.

Growth hormone receptor messenger ribonucleic acid in normal and pathologic human adrenocortical tissues--an analysis by quantitative polymerase chain reaction technique.

B. Mendonca, A. Lucon, S. Villares, 1997, The Journal of clinical endocrinology and metabolism.

Activating mutation of the stimulatory G protein (gsp) as a putative cause of ovarian and testicular human stromal Leydig cell tumors.

A. Latronico, F. Carvalho, M. Zerbini, 1998, The Journal of clinical endocrinology and metabolism.

GAPO syndrome (McKusick 23074)--a connective tissue disorder: report on two affected sibs and on the pathologic findings in the older.

J. Opitz, B. Mendonca, M. Sotto, 1990, American journal of medical genetics.

A clinico-genetic investigation of Leydig cell hypoplasia.

B. Mendonca, I. Arnhold, W. Bloise, 1987, American journal of medical genetics.

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

K. O. Elliston, D. Russell, K. Bradshaw, 1994, Nature Genetics.

Menstrual disturbances in patients with systemic lupus erythematosus without alkylating therapy: clinical, hormonal and therapeutic associations

E. Bonfá, S. Pasoto, B. Mendonca, 2002, Lupus.

Adrenal Nodules in Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Regression after Adequate Hormonal Control

B. Mendonca, I. Arnhold, G. Madureira, 2001, Journal of pediatric endocrinology & metabolism : JPEM.

Menstrual disorders and infertility caused by inactivating mutations of the luteinizing hormone receptor gene.

A. Latronico, B. Mendonca, I. Arnhold, 1999, Fertility and sterility.

Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel constitutively activating mutation in the first transmembrane helix.

F. Fanelli, A. Latronico, D. Segaloff, 2000, The Journal of clinical endocrinology and metabolism.

A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor.

A. Latronico, D. Segaloff, B. Mendonca, 1998, Molecular endocrinology.

A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty.

C. Tsigos, A. Latronico, B. Wajchenberg, 1995, The Journal of clinical endocrinology and metabolism.

No evidence of the inactivating mutation (C566T) in the follicle-stimulating hormone receptor gene in Brazilian women with premature ovarian failure.

K. Vass, A. Latronico, B. Mendonca, 1998, Fertility and sterility.

Effectiveness of treating ovarian hyperstimulation syndrome with cabergoline in two patients with gonadotropin-producing pituitary adenomas.

D. Danilovic, B. Mendonca, M. Knoepfelmacher, 2006, Fertility and sterility.

[Complete form of androgen insensitivity syndrome in Brazilian patients due to P766A mutation in the androgen receptor].

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

Normal expression of the serologically defined H-Y antigen in Leydig cell hypoplasia.

W. Bloise, C. Moreira-Filho, B. Mendonca, 1988, The Journal of urology.

Serum Inhibin Levels Before and After Gonadotropin Stimulation in Cryptorchid Boys Under Age 4 Years

C. Longui, W. Bloise, B. Mendonca, 1998, Journal of pediatric endocrinology & metabolism : JPEM.

Absence of mutations involving the LIM homeobox domain gene LHX9 in 46,XY gonadal agenesis and dysgenesis.

M. Fellous, K. McElreavey, G. Berkovitz, 2001, The Journal of clinical endocrinology and metabolism.

Inhibin α-subunit (INHA) gene and locus changes in paediatric adrenocortical tumours from TP53 R337H mutation heterozygote carriers

C. Stratakis, G. Guerra‐Júnior, A. Moreira, 2004, Journal of Medical Genetics.

Central precocious puberty caused by mutations in the imprinted gene MKRN3.

J. Hirschhorn, F. de Zegher, R. Carroll, 2013, The New England journal of medicine.

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.

Mutations of the KISS1 gene in disorders of puberty.

W. Kuohung, U. Kaiser, Suzy D C Bianco, 2010, The Journal of clinical endocrinology and metabolism.

A novel missense mutation, GLY424SER, in Brazilian patients with 21-hydroxylase deficiency.

O. Monte, I. Arnhold, M. Nishi, 1999, The Journal of clinical endocrinology and metabolism.

A GPR54-activating mutation in a patient with central precocious puberty.

S. Seminara, W. Kuohung, U. Kaiser, 2008, The New England journal of medicine.

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.

A virilizing Leydig cell tumor of the ovary associated with stromal hyperplasia under gonadotropin control

F. Carvalho, B. Wajchenberg, M. Nery, 1997, Journal of endocrinological investigation.

Long-term treatment of central precocious puberty with a long-acting analogue of luteinizing hormone release hormone (D-Tryp6-GnRH) in monthly injections. Its possible use in normal puberty.

B. Wajchenberg, M. Nery, B. Mendonca, 1993, Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme.

Molecular genotyping in Brazilian patients with the classical and nonclassical forms of 21-hydroxylase deficiency.

C. Longui, I. Arnhold, B. Mendonca, 1998, The Journal of clinical endocrinology and metabolism.

X 21-Hydroxylase deficiency in Brazil

C. Longui, I. Arnhold, B. Mendonca, 2022 .

17Beta-hydroxysteroid dehydrogenase 3 deficiency in women.

D. Russell, J. Wilson, W. Bloise, 1999, The Journal of clinical endocrinology and metabolism.

Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene.

A. Latronico, I. Arnhold, B. Mendonca, 1999, The Journal of clinical endocrinology and metabolism.

The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency.

J. Cogan, J. Phillips, J D Cogan, 1998, The Journal of clinical endocrinology and metabolism.

A meiotic recombination in a new isolated familial somatotropinoma kindred.

B. Teh, S. Khoo, M. Gadelha, 2004, European journal of endocrinology.

Gonadal agenesis in XX and XY sisters: evidence for the involvement of an autosomal gene.

M. Fellous, K. McElreavey, C. Moreira-Filho, 1994, American journal of medical genetics.

Macroprolactinomas masquerading as pseudoprolactinomas: the high dose hook effect

M. Bronstein, B. Mendonca, N. Musolino, 1997 .

Cushing's syndrome due to ectopic ACTH secretion by bilateral pheochromocytomas in multiple endocrine neoplasia type 2A.

B. Mendonca, I. Arnhold, W. Nicolau, 1988, The New England journal of medicine.

Possible role of a radiation-induced p53 mutation in a Nelson’s syndrome patient with a fatal outcome

E. Pinto, M. Fragoso, B. Mendonca, 2011, Pituitary.

Selection of adrenal tumor cells in culture demonstrated by interphase cytogenetics.

A. Latronico, C. Rosenberg, B. Mendonca, 1995, Cancer genetics and cytogenetics.

Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders.

S. Seminara, U. Kaiser, A. Latronico, 2012, Arquivos brasileiros de endocrinologia e metabologia.

Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel mutation in arginine-vasopressin gene in a Brazilian family.

M. Mancini, V. Brito, S. Marui, 2008, Arquivos brasileiros de endocrinologia e metabologia.

Fatal factitious Cushing syndrome (Münchhausen's syndrome) in a patient with macroprolactinoma and silent corticotrophinoma: case report and literature review

M. Bronstein, M. Fragoso, B. Mendonca, 2014 .

Premature thelarche in girls after growth hormone therapy.

B. Mendonca, L. Carvalho, I. Arnhold, 2001, The Journal of pediatrics.

Allelic Variants of ARMC5 in Patients With Adrenal Incidentalomas and in Patients With Cushing's Syndrome Associated With Bilateral Adrenal Nodules

G. Occhi, D. Regazzo, F. Ceccato, 2020, Frontiers in Endocrinology.

Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1.

P. Kopp, A. Latronico, S. Marui, 2000, The Journal of clinical endocrinology and metabolism.

Negative correlation between tumour size and cortisol/ACTH ratios in patients with Cushing’s disease harbouring microadenomas or macroadenomas

M. Bronstein, M. Fragoso, B. Mendonca, 2016, Journal of Endocrinological Investigation.

Growth hormone pharmacogenetics: the interactive effect of a microsatellite in the IGF1 promoter region with the GHR-exon 3 and −202 A/C IGFBP3 variants on treatment outcomes of children with severe GH deficiency

G. Guerra‐Júnior, B. Mendonca, I. Arnhold, 2011, The Pharmacogenomics Journal.

Hyperandrogenism due to 3 beta-hydroxysteroid dehydrogenase deficiency with accessory adrenocortical tissue: a hormonal and metabolic evaluation.

M. Foss, A. Pontes, F. J. Paula, 1994, Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas.

Criteria for the cure of acromegaly: comparison between basal growth hormone and somatomedin C plasma concentrations in active and non-active acromegalic patients

D. Giannella‐Neto, B. Wajchenberg, B. Mendonca, 1988, Journal of endocrinological investigation.

Clinical and molecular characterization of Brazilian patients with growth hormone gene deletions.

J. Cogan, J. Phillips, B. Mendonca, 1998, Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas.

High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil

A. Camargo, A. Simpson, A. Simpson, 2003, Journal of medical genetics.

Mutation analysis of the follicle-stimulating hormone receptor gene in girls with gonadotropin-independent precocious puberty resulting from autonomous cystic ovaries.

A. Latronico, M. Fragoso, B. Mendonca, 2000, Fertility and sterility.

Origin of an ovarian steroid cell tumor causing isosexual pseudoprecocious puberty demonstrated by the expression of adrenal steroidogenic enzymes and adrenocorticotropin receptor.

F M Carvalho, A. Latronico, A. Jorge, 2000, The Journal of clinical endocrinology and metabolism.

Infants of Women with Polycystic Ovary Syndrome have Lower Cord Blood Androstenedione and Estradiol Levels

W. Kuohung, U. Kaiser, A. Latronico, 2010 .

Insulin-like Growth Factor-I Treatment in Two Children with Growth Hormone Gene Deletions

B. Mendonca, I. Arnhold, M. Osorio, 1999, Journal of pediatric endocrinology & metabolism : JPEM.

High 18F-FDG uptake in PMAH correlated with normal expression of Glut1, HK1, HK2, and HK3

C. Buchpiguel, M. Zerbini, B. Mendonca, 2016, Acta radiologica.

Ovarian resistance to luteinizing hormone: a novel cause of amenorrhea and infertility.

G. Chrousos, A. Latronico, F. Carvalho, 1997, Fertility and Sterility.

Cortisol and adrenocorticotropin response to desmopressin in women with Cushing's disease compared with depressive illness.

M. Fragoso, B. Mendonca, D. Malerbi, 1996, The Journal of clinical endocrinology and metabolism.

Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development

L. Looijenga, H. Stoop, K. De Bosscher, 2018, Genetics in Medicine.

[Carney complex: a case report and literature review].

B. Mendonca, Madson Q. Almeida, M. Villares, 2004, Arquivos brasileiros de endocrinologia e metabologia.

Central precocious puberty caused by mutations in the imprinted gene MKRN3.

J. Hirschhorn, F. de Zegher, R. Carroll, 2013, The New England journal of medicine.

Mutation in 3 beta-hydroxysteroid dehydrogenase type II associated with pseudohermaphroditism in males and premature pubarche or cryptic expression in females.

R. Sutcliffe, W. Bloise, B. Wajchenberg, 1994, Journal of molecular endocrinology.

[Standardization of DNA extraction with NaCl from oral mucosa cells: application in PROP1 gene study].

M. Nishi, S. Marui, B. Mendonca, 2005, Arquivos brasileiros de endocrinologia e metabologia.

[Adrenocortical tumors--new perspectives].

A. Latronico, B. Mendonca, 2004, Arquivos brasileiros de endocrinologia e metabologia.