B. Mendonca

发表

Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development

L. Montenegro, A. Lerário, M. Y. Nishi, 2021, Clinics.

PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome.

B. Mendonca, I. Arnhold, L. V. Ferreira, 2005, The Journal of clinical endocrinology and metabolism.

DLK1 Is a Novel Link Between Reproduction and Metabolism.

M. Lees, A. Dauber, E. Baracat, 2018, The Journal of clinical endocrinology and metabolism.

Diagnosis of disorders of sex development ( DSDs ) : impact of molecular diagnostics on clinical practice

J. Achermann, B. Mendonca, S. Domenice, 2017 .

Disorders of sex development: effect of molecular diagnostics

J. Achermann, B. Mendonca, S. Domenice, 2015, Nature Reviews Endocrinology.

Persistent Poor Metabolic Profile in Postmenopausal Women With Ovarian Hyperandrogenism After Testosterone Level Normalization

E. Baracat, B. Mendonca, F. Carvalho, 2019, Journal of the Endocrine Society.

Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty

M. Weirauch, D. Haig, R. Carroll, 2017, The Journal of clinical endocrinology and metabolism.

Growth standards of patients with Noonan and Noonan‐like syndromes with mutations in the RAS/MAPK pathway

A. Pereira, A. Jorge, B. Mendonca, 2012, American journal of medical genetics. Part A.

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 .

GH Values after Clonidine Stimulation Measured by Immunofluorometric Assay in Normal Prepubertal Children and GH-Deficient Patients

B. Mendonca, I. Arnhold, S. Marui, 2003, Hormone Research in Paediatrics.

[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation].

L. Montenegro, B. Mendonca, I. Arnhold, 2007, Arquivos brasileiros de endocrinologia e metabologia.

[Noonan syndrome: from phenotype to growth hormone therapy].

B. Mendonca, I. Arnhold, L. V. Ferreira, 2008, Arquivos brasileiros de endocrinologia e metabologia.

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

J. Hirschhorn, Z. Gucev, R. Carroll, 2014, The Journal of clinical endocrinology and metabolism.

[Advances in the etiology, diagnosis and treatment of central precocious puberty].

A. Latronico, B. Mendonca, D. Macedo, 2014, Arquivos brasileiros de endocrinologia e metabologia.

Molecular analysis of the neuropeptide Y1 receptor gene in human idiopathic gonadotropin-dependent precocious puberty and isolated hypogonadotropic hypogonadism.

A. Latronico, B. Mendonca, G. Ryan, 2007, Fertility and sterility.

Genetics of ovarian insufficiency and defects of folliculogenesis.

B. Mendonca, M. França, 2021, Best practice & research. Clinical endocrinology & metabolism.

Mutation analysis of NANOS3 in Brazilian women with primary ovarian failure

B. Mendonca, V. Brito, S. Domenice, 2016, Clinics.

Detection of Y-specific sequences in 122 patients with Turner syndrome: nested PCR is not a reliable method.

B. Mendonca, S. Domenice, M. Nishi, 2002, American journal of medical genetics.

Steroid Screening Tools Differentiating Nonclassical Congenital Adrenal Hyperplasia and Polycystic Ovary Syndrome.

E. Baracat, B. Mendonca, L. Gomes, 2020, The Journal of clinical endocrinology and metabolism.

Long-term cardio-metabolic outcomes in patients with classical congenital adrenal hyperplasia: is the risk real?

B. Mendonca, L. Gomes, T. S. Bachega, 2020, Current opinion in endocrinology, diabetes, and obesity.

Influence of the A3669G Glucocorticoid Receptor Gene Polymorphism on the Metabolic Profile of Pediatric Patients with Congenital Adrenal Hyperplasia

B. Mendonca, L. Gomes, T. S. Bachega, 2014, International journal of endocrinology.

Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients

L. Montenegro, B. Mendonca, I. Arnhold, 2008, Clinical endocrinology.

Isolated familial somatotropinoma: 11q13-loh and gene/protein expression analysis suggests a possible involvement of aip also in non-pituitary tumorigenesis

B. Mendonca, V. Alves, M. Bronstein, 2010, Clinics.

Comprehensive Genetic Analysis of 128 Candidate Genes in a Cohort With Idiopathic, Severe, or Familial Osteoporosis

B. Ferraz-de-Souza, A. Lerário, B. Mendonca, 2020, Journal of the Endocrine Society.

Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein.

H. Ostrer, Robert Huether, A. Chamberlin, 2019, Human molecular genetics.

Psychosexual Aspects, Effects of Prenatal Androgen Exposure, and Gender Change in 46,XY Disorders of Sex Development

B. Mendonca, M. Inácio, I. Arnhold, 2018, The Journal of clinical endocrinology and metabolism.

Genotype analysis of the human endostatin variant p.D104N in benign and malignant adrenocortical tumors

B. Mendonca, M. Pereira, Beatriz Marinho de Paula Mariani, 2012, Clinics.

Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life.

A. Wisniewski, B. Mendonca, F. Dénes, 2019, Endocrine reviews.

The phenotypic spectrum associated with OTX2 mutations in humans

Jun Z. Li, M. Maghnie, M. Dattani, 2021, European journal of endocrinology.

Anthropometric, metabolic, and reproductive outcomes of patients with central precocious puberty treated with leuprorelin acetate 3-month depot (11.25 mg)

A. Latronico, B. Mendonca, C. Ramos, 2021, Journal of pediatric endocrinology & metabolism : JPEM.

Effectiveness of the combined recombinant human growth hormone and gonadotropin-releasing hormone analog therapy in pubertal patients with short stature due to SHOX deficiency.

B. Mendonca, I. Arnhold, R. Scalco, 2010, The Journal of clinical endocrinology and metabolism.

Comparison between weight-based and IGF-I-based growth hormone (GH) dosing in the treatment of children with GH deficiency and influence of exon 3 deleted GH receptor variant.

L. Montenegro, B. Mendonca, A. Jorge, 2009, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

The -202 A allele of insulin-like growth factor binding protein-3 (IGFBP3) promoter polymorphism is associated with higher IGFBP-3 serum levels and better growth response to growth hormone treatment in patients with severe growth hormone deficiency.

G. Guerra‐Júnior, B. Mendonca, I. Arnhold, 2009, The Journal of clinical endocrinology and metabolism.

Factors determining normal adult height in girls with gonadotropin-dependent precocious puberty treated with depot gonadotropin-releasing hormone analogs.

M. Teles, A. Latronico, B. Mendonca, 2008, The Journal of clinical endocrinology and metabolism.

Growth hormone (GH) pharmacogenetics: influence of GH receptor exon 3 retention or deletion on first-year growth response and final height in patients with severe GH deficiency.

L. Montenegro, B. Mendonca, I. Arnhold, 2006, The Journal of clinical endocrinology and metabolism.

A single luteinizing hormone determination 2 hours after depot leuprolide is useful for therapy monitoring of gonadotropin-dependent precocious puberty in girls.

A. Latronico, B. Mendonca, V. Brito, 2004, The Journal of clinical endocrinology and metabolism.

Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genes.

A. Latronico, B. Mendonca, I. Arnhold, 2002, The Journal of clinical endocrinology and metabolism.

The interactive effect of GHR-exon 3 and -202 A/C IGFBP3 polymorphisms on rhGH responsiveness and treatment outcomes in patients with Turner syndrome.

L. Montenegro, B. Mendonca, I. Arnhold, 2012, The Journal of clinical endocrinology and metabolism.

Analysis of the insulin‐like growth factor 1 receptor gene in children born small for gestational age: in vitro characterization of a novel mutation (p.Arg511Trp)

L. Montenegro, B. Mendonca, I. Arnhold, 2013, Clinical endocrinology.

Frequency of genetic polymorphisms of PXR gene in the Brazilian population

B. Mendonca, A. Jorge, R. P. Moreira, 2011, Clinics.

A truncating variant of RAD51B associated with primary ovarian insufficiency provides insights into its meiotic and somatic functions.

R. Veitia, M. Sánchez-Martín, J. Méndez, 2022, Cell death and differentiation.

KCNJ5 somatic mutation is a predictor of hypertension remission after adrenalectomy for unilateral primary aldosteronism.

L. Bortolotto, A. Latronico, B. Mendonca, 2019, The Journal of clinical endocrinology and metabolism.

High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort

A. Latronico, L. Montenegro, B. Mendonca, 2022, Journal of the Endocrine Society.

Insulin-like growth factor 1 gene (CA)n repeats and a variable number of tandem repeats of the insulin gene in Brazilian children born small for gestational age

E. Pinto, C. Longui, B. Mendonca, 2013, Clinics.

Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR

A. Lerário, A. Jorge, B. Mendonca, 2019, Endocrine connections.

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

C. Lotfi, A. Latronico, A. Lerário, 2008, The Journal of clinical endocrinology and metabolism.

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.

Triple A Syndrome: Preliminary Response to the Antioxidant N-Acetylcysteine Treatment in a Child

A. Seguro, K. Koehler, A. Huebner, 2017, Hormone Research in Paediatrics.

Modulatory effect of BclI GR gene polymorphisms on the obesity phenotype in Brazilian patients with Cushing's disease

B. Mendonca, M. Bronstein, M. Machado, 2013, Clinics.

Extraadrenal 21-hydroxylation by CYP2C19 and CYP3A4: effect on 21-hydroxylase deficiency.

W. Miller, B. Mendonca, V. Agrawal, 2009, The Journal of clinical endocrinology and metabolism.

Combined expression of BUB 1 B , DLGAP 5 , and PINK 1 as predictors of poor outcome in adrenocortical tumors : validation in a Brazilian cohort of adult and pediatric patients

A. Lacroix, A. Latronico, A. Lerário, 2011 .

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.

A. Lacroix, A. Latronico, A. Lerário, 2012, European journal of endocrinology.

New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism.

A. Latronico, L. Montenegro, A. Lerário, 2019, European journal of endocrinology.

An activating mutation in the CRHR1 gene is rarely associated with pituitary-dependent hyperadrenocorticism in poodles

B. Mendonca, L. Gomes, L. Carvalho, 2017, Clinics.

Absence of follicle-stimulating hormone receptor activating mutations in women with iatrogenic ovarian hyperstimulation syndrome.

A. Latronico, B. Mendonca, P. Serafini, 2004, Fertility and sterility.

Homozygous Inactivating Mutation in NANOS3 in Two Sisters with Primary Ovarian Insufficiency

G. Guerra‐Júnior, F. C. Soardi, M. de Mello, 2014, BioMed research international.

High Prevalence of Alterations in DNA Mismatch Repair Genes of Lynch Syndrome in Pediatric Patients with Adrenocortical Tumors Carrying a Germline Mutation on TP53

A. Latronico, L. Montenegro, A. Lerário, 2020, Cancers.

The Use of Genetics for Reaching a Diagnosis in XY DSD

R. McGowan, S. Ahmed, B. Mendonca, 2022, Sexual Development.

Familial hyperestrogenism in both sexes: clinical, hormonal, and molecular studies of two siblings.

D. Russell, A. Latronico, B. Mendonca, 2003, The Journal of clinical endocrinology and metabolism.

Mild androgen insensitivity syndrome: the current landscape.

B. Mendonca, R. Ramos, R. Batista, 2022, Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists.

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.

Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome.

M. de Castro, A. Latronico, B. Mendonca, 2008, The Journal of clinical endocrinology and metabolism.

Wide spectrum of NR5A1‐related phenotypes in 46,XY and 46,XX individuals

J. Achermann, B. Ferraz-de-Souza, Lin Lin, 2016, Birth defects research. Part C, Embryo today : reviews.

Low Frequency of CYP21B Deletions in Brazilian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

C. Longui, B. Mendonca, I. Arnhold, 1999, Human Heredity.

Persistent Poor Metabolic Profile in Ovarian Hyperandrogenic Postmenopausal Women after Testosterone Level Normalization

B. Mendonca, S. Domenice, Thaís Rocha, 2019 .

46,XY disorders of sex development (DSD)

B. Mendonca, I. Arnhold, S. Domenice, 2009, Clinical endocrinology.

International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia - data from the I-CAH registry.

M. Korbonits, S. Poyrazoglu, F. Darendeliler, 2021, European journal of endocrinology.

Mineralocorticoid replacement during infancy for salt wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency

B. Mendonca, L. Gomes, G. Madureira, 2013, Clinics.

Pharmacogenetics of glucocorticoid replacement could optimize the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

B. Mendonca, A. Jorge, L. Gomes, 2011, Clinics.

Assessment of stress levels in girls with central precocious puberty before and during long-acting gonadotropin-releasing hormone agonist treatment: a pilot study

A. Latronico, B. Mendonca, D. Macedo, 2017, Journal of pediatric endocrinology & metabolism : JPEM.

Adult Height of Patients with SHOX Haploinsufficiency with or without GH Therapy: A Real-World Single-Center Study

Gabriela A. Vasques, B. Mendonca, I. Arnhold, 2022, Hormone Research in Paediatrics.

High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic

A. Dauber, I. Bergadá, U. Kaiser, 2016, Neuroendocrinology.

Male hypogonadism: childhood diagnosis and future therapies

B. Mendonca, V. Brito, Karina Berger, 2010 .

Update on the etiology, diagnosis and therapeutic management of sexual precocity.

A. Latronico, B. Mendonca, V. Brito, 2008, Arquivos brasileiros de endocrinologia e metabologia.

Treatment of gonadotropin dependent precocious puberty due to hypothalamic hamartoma with gonadotropin releasing hormone agonist depot

A. Latronico, B. Mendonca, I. Arnhold, 1999, Archives of disease in childhood.

Effects of acute and chronic zinc administration on growth velocity in patients with hypopituitarism

J. Brandão-Neto, B. Mendonca, I. Arnhold, 1998 .

Primary malignant tumors of the adrenal glands

A. Latronico, B. Mendonca, M. Fragoso, 2018, Clinics.

Adjuvant radiotherapy for the primary treatment of adrenocortical carcinoma: are we offering the best?

W. Nahas, M. Srougi, B. Mendonca, 2017, International braz j urol : official journal of the Brazilian Society of Urology.

Potential effects of alendronate on fibroblast growth factor 23 levels and effective control of hypercalciuria in an adult with Jansen's metaphyseal chondrodysplasia.

B. Ferraz-de-Souza, B. Mendonca, R. Martin, 2012, The Journal of clinical endocrinology and metabolism.

46,XY DSD due to 17β-HSD3 deficiency and 5α-reductase type 2 deficiency.

B. Mendonca, I. Arnhold, V. Brito, 2011, Advances in experimental medicine and biology.

46,XY DSD due to impaired androgen production.

A. Belgorosky, M. Rivarola, B. Mendonca, 2010, Best practice & research. Clinical endocrinology & metabolism.

A Single Nucleotide Variant in the Promoter Region of 17β-HSD Type 5 Gene Influences External Genitalia Virilization in Females with 21-Hydroxylase Deficiency

M. de Castro, C. Longui, C. Kochi, 2016, Hormone Research in Paediatrics.

Gender assignment in patients with disorder of sex development

B. Mendonca, 2014, Current opinion in endocrinology, diabetes, and obesity.

46,XY Disorders of Sexual Development

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

Androgen Biosynthetic Defects: 17β-HSD Type 3 and 5α-RD Type 2 Deficiencies

B. Mendonca, N. Gomes, R. Batista, 2014 .

Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery.

B. Mendonca, A. Jorge, M. Nishi, 2019, Archives of endocrinology and metabolism.

Long‐term treatment of familial male‐limited precocious puberty (testotoxicosis) with cyproterone acetate or ketoconazole

G. Guerra‐Júnior, M. de Castro, A. Latronico, 2008, Clinical endocrinology.

The effect of distinct activating mutations of the luteinizing hormone receptor gene on the pituitary–gonadal axis in both sexes

A. Latronico, B. Mendonca, I. Arnhold, 2000, Clinical endocrinology.

Catch-Up Growth in Patients with Congenital or Acquired Growth Hormone Deficiency After GH Replacement: Clinical Features and Hypothalamic–Pituitary Imaging

B. Mendonca, C. Leite, L. Lucato, 2012 .

A single somatic activating Asp578His mutation of the luteinizing hormone receptor causes Leydig cell tumour in boys with gonadotropin‐independent precocious puberty

A. Latronico, B. Mendonca, I. Arnhold, 2006, Clinical endocrinology.

FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies

A. Latronico, L. Montenegro, B. Mendonca, 2015, Endocrine connections.

Classic congenital adrenal hyperplasia and its impact on reproduction.

B. Mendonca, L. Gomes, Tania A. S. S. Bachega, 2019, Fertility and sterility.

XY disorders of sex development

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

The desmopressin stimulation test in the differential diagnosis of Cushing's syndrome

B. Mendonca, B. Wajchenberg, M. C. Corradini, 1993, Clinical endocrinology.

Clinical management of transsexual subjects Manejo clínico de sujeitos transexuais

B. Mendonca, E. F. Costa, E. Costa, 2014 .

β-catenin programs a tissue-specific epigenetic vulnerability in aggressive adrenocortical carcinoma

T. Giordano, G. Hammer, S. Venneti, 2022, bioRxiv.

Steroidogenic factor 1 overexpression and gene amplification are more frequent in adrenocortical tumors from children than from adults.

A. Latronico, A. Lerário, B. Mendonca, 2010, The Journal of clinical endocrinology and metabolism.

The first homozygous mutation (S226I) in the highly‐conserved WSXWS‐like motif of the GH receptor causing Laron syndrome: supression of GH secretion by GnRH analogue therapy not restored by dihydrotestosterone administration

B. Mendonca, I. Arnhold, A. Jorge, 2004, Clinical endocrinology.

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

A. Lenzi, M. Korbonits, F. Darendeliler, 2020, Yearbook of Paediatric Endocrinology.

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

A. Lenzi, M. Korbonits, F. Darendeliler, 2019, The Journal of clinical endocrinology and metabolism.

Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum

Jun Z. Li, S. Camper, L. Montenegro, 2021, Genes.

Comparative Exome Capture Methods to Investigate Genes Involved in Hypopituitarism in a Brazilian Population

Jun Z. Li, S. Camper, A. Tahira, 2021 .

Cardiopulmonary capacity and muscle strength in transgender women on long-term gender-affirming hormone therapy: a cross-sectional study

B. Mendonca, S. Domenice, L. Alvares, 2022, British Journal of Sports Medicine.

The Molecular Basis of 5α-Reductase Type 2 Deficiency

B. Mendonca, R. Batista, 2022, Sexual Development.

Germline mutation analysis of Tpit in Poodle dogs with ACTH-dependent hyperadrenocorticism

B. Mendonca, A. Billerbeck, L. Carvalho, 2012 .

Retrospective Analysis of Prognostic Factors in Pediatric Patients with Adrenocortical Tumor from Unique Tertiary Center with Long-Term Follow-Up

A. Latronico, B. Mendonca, F. Dénes, 2022, Journal of clinical medicine.

Evaluation of SHOX defects in the era of next‐generation sequencing

Gabriela A. Vasques, A. Lerário, A. Jorge, 2019, Clinical genetics.

A homozygous point mutation in the GH1 promoter (c.-223C>T) leads to reduced GH1 expression in siblings with isolated GH deficiency (IGHD).

L. Montenegro, B. Mendonca, I. Arnhold, 2016, European journal of endocrinology.

Targeted massively parallel sequencing panel to diagnose genetic endocrine disorders in a tertiary hospital

L. Montenegro, A. Jorge, B. Mendonca, 2022, Clinics.

[Growth hormone (GH) deficiency treatment in children: comparison between uses of pen versus bottles/syringes on GH administration].

B. Mendonca, I. Arnhold, L. Carvalho, 2007, Arquivos brasileiros de endocrinologia e metabologia.

Absence of inactivating mutations and deletions in the DMRT1 and FGF9 genes in a large cohort of 46,XY patients with gonadal dysgenesis.

B. Mendonca, V. Brito, S. Domenice, 2012, European journal of medical genetics.

Analysis of anti-Müllerian hormone (AMH) and its receptor (AMHR2) genes in patients with persistent Müllerian duct syndrome.

G. Guerra‐Júnior, B. Mendonca, A. Maciel-Guerra, 2012, Arquivos brasileiros de endocrinologia e metabologia.

The Role of SRY Mutations in the Etiology of Gonadal Dysgenesis in Patients with 45,X/46,XY Disorder of Sex Development and Variants

B. Mendonca, S. Domenice, M. Nishi, 2010, Hormone Research in Paediatrics.

Analysis of glucose-dependent insulinotropic peptide receptor (GIPR) and luteinizing hormone receptor (LHCGR) expression in human adrenocortical hyperplasia.

A. Latronico, B. Mendonca, R. Martin, 2009, Arquivos brasileiros de endocrinologia e metabologia.

Expression profiles of the glucose-dependent insulinotropic peptide receptor and LHCGR in sporadic adrenocortical tumors.

C. Lotfi, A. Latronico, B. Mendonca, 2008, The Journal of endocrinology.

Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene.

A. Latronico, B. Mendonca, R. Martin, 2003, The Journal of clinical endocrinology and metabolism.

Maternal isodisomy causing homozygosity for a dominant activating mutation of the luteinizing hormone receptor gene in a boy with familial male‐limited precocious puberty

E. Pinto, A. Latronico, B. Mendonca, 2003, Clinical endocrinology.

Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes

A. Krepischi, A. Lerário, A. Jorge, 2015, Clinical endocrinology.

Frequent development of combined pituitary hormone deficiency in patients initially diagnosed as isolated growth hormone deficiency: a long term follow-up of patients from a single center

B. Mendonca, I. Arnhold, C. Leite, 2015, Pituitary.

PROP1 and CTNNB1 expression in adamantinomatous craniopharyngiomas with or without β-catenin mutations

B. Mendonca, H. Matushita, I. Soares, 2011, Clinics.

Effects of long-term storage of filter paper blood samples on neonatal thyroid stimulating hormone, thyroxin and 17-alpha-hydroxyprogesterone measurements

B. Mendonca, V. Brito, M. C. Batista, 2008, Journal of medical screening.

Successful Pregnancies After Adequate Hormonal Replacement in Patients With Combined Pituitary Hormone Deficiencies

E. Baracat, B. Mendonca, V. Brito, 2017, Journal of the Endocrine Society.

Elevated plasma miR‐210 expression is associated with atypical genitalia in patients with 46,XY differences in sex development

B. Mendonca, F. Dénes, N. Gomes, 2022, Molecular genetics & genomic medicine.

[Mathematical models for predicting growth responses to growth hormone replacement therapy].

B. Mendonca, I. Arnhold, A. Jorge, 2008, Arquivos brasileiros de endocrinologia e metabologia.

Quality of life of patients with 46,XX and 46,XY disorders of sex development

B. Mendonca, I. Arnhold, L. Gomes, 2015, Clinical endocrinology.

Clinical and molecular aspects of a pediatric metachronous adrenocortical tumor.

A. Latronico, A. Lerário, B. Mendonca, 2011, Arquivos brasileiros de endocrinologia e metabologia.

Clinical and molecular aspects of a pediatric metachronous adrenocortical tumor Aspectos clínicos e moleculares de tumor adrenocortical metacrônico pediátrico

M. Candida, A. Latronico, A. Lerário, 2011 .

Aspects of Sexual Life, Sexual Orientation and Fertility Desire in a Large Cohort of Individuals With 46,xy Differences of Sex Development

B. Mendonca, N. Gomes, V. Brito, 2021 .

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.

Report of a del22q11 in a patient with Mayer‐Rokitansky‐Küster‐Hauser (MRKH) anomaly and exclusion of WNT‐4, RAR‐gamma, and RXR‐alpha as major genes determining MRKH anomaly in a study of 25 affected women

C. Kim, F. Jehee, B. Mendonca, 2006, American journal of medical genetics. Part A.

Effects of EDTA and Sodium Citrate on hormone measurements by fluorometric (FIA) and immunofluorometric (IFMA) methods

B. Mendonca, M. B. Kohek, V. Lando, 2002, BMC clinical pathology.

Low Protein Expression of both ATRX and ZNRF3 as Novel Negative Prognostic Markers of Adult Adrenocortical Carcinoma

L. Montenegro, B. Mendonca, V. Srougi, 2021, International journal of molecular sciences.

Long‐term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis

A. Lerário, B. Mendonca, I. Arnhold, 2018, Clinical endocrinology.

The laparoscopic management of intersex patients: the preferred approach

B. Mendonca, F. Dénes, F. A. Silva, 2005, BJU international.

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 .

A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family

G. Guerra‐Júnior, M. de Mello, A. Lerário, 2017, Sexual Development.

Long-term followup of a large cohort of patients with ovotesticular disorder of sex development.

M. Srougi, B. Mendonca, F. Dénes, 2014, The Journal of urology.

Role of GLI2 in hypopituitarism phenotype.

B. Mendonca, I. Arnhold, A. Jorge, 2015, Journal of molecular endocrinology.

Clinical and hormonal features of selective follicle-stimulating hormone (FSH) deficiency due to FSH beta-subunit gene mutations in both sexes.

A. Latronico, B. Mendonca, V. Brito, 2005, Fertility and sterility.

Frequency of the allelic variant (Trp8Arg/Ile15Thr) of the luteinizing hormone gene in a Brazilian cohort of healthy subjects and in patients with hypogonadotropic hypogonadism.

B. Mendonca, I. Arnhold, A. Billerbeck, 2005, Clinics.

Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency.

E. Baracat, A. Lerário, A. Jorge, 2019, European journal of medical genetics.

Letter re: FSH receptor polymorphisms and iatrogenic ovarian hyperstimulation.

A. Latronico, B. Mendonca, P. Serafini, 2005, The Journal of clinical endocrinology and metabolism.

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: a review.

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

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.

Assessment of the role of transcript for GATA-4 as a marker of unfavorable outcome in human adrenocortical neoplasms

B. Mendonca, R. Martin, A. Barbosa, 2004, BMC endocrine disorders.

Female pseudohermaphroditism caused by a novel homozygous missense mutation of the GR gene.

G. Chrousos, T. Kino, M. de Castro, 2002, The Journal of clinical 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.

Impact of Long-Term Dexamethasone Therapy on the Metabolic Profile of Patients With 21-Hydroxylase Deficiency

B. Mendonca, R. Scalco, G. Madureira, 2019, Journal of the Endocrine Society.

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.

Clinical, hormonal, ovarian, and genetic aspects of 46,XX patients with congenital adrenal hyperplasia due to CYP17A1 defects.

A. Zamboni, B. Mendonca, R. Martin, 2016, Fertility and sterility.

Successful Live Birth in a Woman With 17α-Hydroxylase Deficiency Through IVF Frozen-Thawed Embryo Transfer.

E. Baracat, B. Mendonca, R. Martin, 2016, The Journal of clinical endocrinology and metabolism.

Phosphodiesterase 2A and 3B variants are associated with primary aldosteronism.

F. Faucz, L. Bortolotto, C. Stratakis, 2020, Endocrine-related cancer.

Analysis of Craniofacial and Extremity Growth in Patients with Growth Hormone Deficiency during Growth Hormone Therapy

B. Mendonca, I. Arnhold, L. Carvalho, 2009, Hormone Research in Paediatrics.

Outcomes of Patients with Central Precocious Puberty Due to Loss-of-Function Mutations in the MKRN3 Gene after Treatment with Gonadotropin-Releasing Hormone Analog

A. Latronico, B. Mendonca, D. Macedo, 2019, Neuroendocrinology.

Long-Term Outcomes of Patients with Central Precocious Puberty due to Hypothalamic Hamartoma after GnRHa Treatment: Anthropometric, Metabolic, and Reproductive Aspects

A. Latronico, B. Mendonca, D. Macedo, 2017, Neuroendocrinology.

A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction.

M. Dattani, J. Brickman, S. Stifani, 2003, The Journal of clinical investigation.

Molecular and Gene Network Analysis of Thyroid Transcription Factor 1 (TTF1) and Enhanced at Puberty (EAP1) Genes in Patients with GnRH-Dependent Pubertal Disorders

S. Ojeda, Hollis Wright, S. Heger, 2013, Hormone Research in Paediatrics.

Methylome profiling of healthy and central precocious puberty girls

S. Ojeda, M. Maschietto, A. Lomniczi, 2018, Clinical Epigenetics.

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.

Combined use of multiplex ligation-dependent probe amplification and automatic sequencing for identification of KAL1 defects in patients with Kallmann syndrome.

M. de Castro, A. Latronico, L. Montenegro, 2013, Fertility and sterility.

Mutational analysis of the necdin gene in patients with congenital isolated hypogonadotropic hypogonadism.

Kathleen Yip, P. Mellon, A. Latronico, 2011, European journal of endocrinology.

Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency.

M. Mohammadi, M. Teles, A. Latronico, 2010, The Journal of clinical endocrinology and metabolism.

Noonan Syndrome and Related Disorders: A Review of Clinical Features and Mutations in Genes of the RAS/MAPK Pathway

B. Mendonca, I. Arnhold, A. Jorge, 2009, Hormone Research in Paediatrics.

Insights from the genetic characterization of central precocious puberty associated with multiple anomalies.

F. de Zegher, C. Kim, A. Latronico, 2020, Human reproduction.

Absence of Functional LIN28B Mutations in a Large Cohort of Patients with Idiopathic Central Precocious Puberty

J. Hirschhorn, B. Henderson, R. Gregory, 2012, Hormone Research in Paediatrics.

The Congenital and Acquired Mechanisms Implicated in the Etiology of Central Precocious Puberty.

J. Argente, U. Kaiser, A. Latronico, 2022, Endocrine reviews.

Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region

U. Kaiser, A. Latronico, L. Montenegro, 2018, Neuroendocrinology.

The benign spectrum of hypothalamic hamartomas: Infrequent epilepsy and normal cognition in patients presenting with central precocious puberty

L. K. Ferreira, A. Latronico, B. Mendonca, 2013, Seizure.

Low DICER1 expression is associated with poor clinical outcome in adrenocortical carcinoma

A. Latronico, A. Lerário, B. Mendonca, 2015, Oncotarget.

Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort.

B. Mendonca, I. Arnhold, A. Jorge, 2014, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

Novel mutation in the gonadotropin-releasing hormone receptor (GNRHR) gene in a patient with normosmic isolated hypogonadotropic hypogonadism.

A. Latronico, B. Mendonca, L. Silveira, 2012, Arquivos brasileiros de endocrinologia e metabologia.

Glucose-dependent insulinotropic peptide receptor overexpression in adrenocortical hyperplasia in MEN1 syndrome without loss of heterozygosity at the 11q13 locus

E. Pinto, A. Latronico, B. Mendonca, 2011, Clinics.

[Absence of PRKAR1A loss of heterozygosity in laser-captured microdissected pigmented nodular adrenocortical tissue from a patient with Carney complex caused by the novel nonsense mutation p.Y21X].

E. Pinto, A. Latronico, B. Mendonca, 2008, Arquivos brasileiros de endocrinologia e metabologia.

Variants in 46,XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias

G. Guerra‐Júnior, A. Jorge, B. Mendonca, 2021, Sexual Development.

Allelic variants of the gamma-aminobutyric acid-A receptor alpha1-subunit gene (GABRA1) are not associated with idiopathic gonadotropin-dependent precocious puberty in girls with and without electroencephalographic abnormalities.

L. Guilhoto, A. Latronico, B. Mendonca, 2006, The Journal of clinical endocrinology and metabolism.

Usefulness of MLPA in the detection of SHOX deletions.

B. Mendonca, I. Arnhold, A. Jorge, 2010, European journal of medical genetics.

Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era

B. Mendonca, M. França, 2019, Journal of the Endocrine Society.

The degree of external genitalia virilization in girls with 21‐hydroxylase deficiency appears to be influenced by the CAG repeats in the androgen receptor gene

E. Pinto, C. Longui, B. Mendonca, 2007, Clinical endocrinology.

Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency

G. Guerra‐Júnior, A. Lerário, B. Mendonca, 2020, PloS one.

Microconversion between CYP21A2 and CYP21A1P promoter regions causes the nonclassical form of 21-hydroxylase deficiency.

B. Mendonca, A. Barbosa, A. Billerbeck, 2007, The Journal of clinical endocrinology and metabolism.

Substitutions in the CYP21A2 promoter explain the simple‐virilizing form of 21‐hydroxylase deficiency in patients harbouring a P30L mutation

B. Mendonca, A. Billerbeck, G. Madureira, 2005, Clinical endocrinology.

Use of nonradioactive labeling to detect large gene rearrangements in 21-hydroxylase deficiency.

B. Mendonca, Priscilla Cukier, A. Billerbeck, 2004, Revista do Hospital das Clinicas.

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

B. Mendonca, I. Arnhold, A. Billerbeck, 2000, Clinical endocrinology.

SHOX mutations in idiopathic short stature and Leri‐Weill dyschondrosteosis: frequency and phenotypic variability

C. Kim, B. Mendonca, I. Arnhold, 2006, Clinical endocrinology.

Sterol O-Acyl Transferase 1 as a Prognostic Marker of Adrenocortical Carcinoma

B. Mendonca, M. Kroiss, V. Srougi, 2020, Cancers.

Real-World Estimates of Adrenal Insufficiency–Related Adverse Events in Children With Congenital Adrenal Hyperplasia

J. Lewsey, M. Korbonits, S. Poyrazoglu, 2020, The Journal of clinical endocrinology and metabolism.

A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure

A. Lerário, B. Mendonca, M. Nishi, 2017, Endocrine.

Global Application of the Assessment of Communication Skills of Paediatric Endocrinology Fellows in the Management of Differences in Sex Development Using the ESPE E-Learning.Org Portal

A. Juul, R. Rey, A. Deeb, 2017, Hormone Research in Paediatrics.

Role of GLI 2 in hypopituitarism phenotype

B. Mendonca, I. Arnhold, A. Jorge, 2015 .

Integrative and Analytical Review of the 5-Alpha-Reductase Type 2 Deficiency Worldwide

B. Mendonca, R. Batista, 2020, The application of clinical genetics.

TACG_A_198178 83..96

B. Mendonca, R. Batista, 2020 .

Genetic evidence of the association of DEAH-box helicase 37 defects with 46,XY gonadal dysgenesis spectrum.

E. Vilain, C. Keegan, R. Mitchell, 2019, 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, 2017, Genetics in Medicine.

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

Michael H. Guo, J. Kitzman, Jun Z. Li, 2021, medRxiv.

SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in São Paulo

S. Marie, L. Onuchic, L. Montenegro, 2020, Clinics.

Targeted Assessment of G0S2 Methylation Identifies a Rapidly Recurrent, Routinely Fatal Molecular Subtype of Adrenocortical Carcinoma

T. Giordano, S. Marie, G. Hammer, 2019, Clinical Cancer Research.

Spontaneous fertility in a male patient with testotoxicosis despite suppression of FSH levels.

A. Latronico, B. Mendonca, D. Macedo, 2018, Human reproduction.

Clinical features of women with resistance to luteinizing hormone

A. Latronico, B. Mendonca, I. Arnhold, 1999, Clinical endocrinology.

SDHB large deletions are associated with absence of MIBG uptake in metastatic lesions of malignant paragangliomas

A. Latronico, B. Mendonca, V. Srougi, 2021, Endocrine.

Management of functioning pediatric adrenal tumors.

B. Mendonca, F. Dénes, R. Lopes, 2020, Journal of pediatric surgery.

Increased expression of ACTH (MC2R) and androgen (AR) receptors in giant bilateral myelolipomas from patients with congenital adrenal hyperplasia

O. Monte, A. Lerário, B. Mendonca, 2014, BMC Endocrine Disorders.

DEFINING THE DOSE, TYPE AND TIMING OF GLUCOCORTICOID AND MINERALOCORTICOID REPLACEMENT IN 256 CHILDREN AND ADULTS WITH CONGENITAL ADRENAL HYPERPLASIA (CAH) IN THE I-CAH REGISTRY

C. Acerini, F. Darendeliler, W. Bonfig, 2017 .

Effects of Type 1 Insulin-Like Growth Factor Receptor Silencing in a Human Adrenocortical Cell Line

B. Ferraz-de-Souza, A. Latronico, L. Montenegro, 2016, Hormone and Metabolic Research.

DAX1 Overexpression in Pediatric Adrenocortical Tumors: A Synergic Role with SF1 in Tumorigenesis

A. Latronico, A. Lerário, B. Mendonca, 2015, Hormone and Metabolic Research.

Genetic and clinical aspects of paediatric pheochromocytomas and paragangliomas

A. Latronico, B. Mendonca, F. Dénes, 2021, Clinical endocrinology.

The role of fibroblast growth factor receptor 4 overexpression and gene amplification as prognostic markers in pediatric and adult adrenocortical tumors.

A. Latronico, A. Lerário, B. Mendonca, 2012, Endocrine-related cancer.

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 .

GH-Releasing Hormone Receptor Gene: A Novel Splice-Disrupting Mutation and Study of Founder Effects

H. Inoue, B. Mendonca, I. Arnhold, 2012, Hormone Research in Paediatrics.

Hormonal, pituitary magnetic resonance, LHX4 and HESX1 evaluation in patients with hypopituitarism and ectopic posterior pituitary lobe

B. Mendonca, C. Leite, S. Marui, 2006, Clinical endocrinology.

Vasculometabolic effects in patients with congenital growth hormone deficiency with and without GH replacement therapy during adulthood

L. Bortolotto, B. Mendonca, I. Arnhold, 2020, Pituitary.

Absence of GH-releasing hormone (GHRH) mutations in selected patients with isolated GH deficiency.

M. Dattani, A. Carrascosa, L. Audí, 2011, The Journal of clinical endocrinology and metabolism.

PROP1 overexpression in corticotrophinomas: evidence for the role of PROP1 in the maintenance of cells committed to corticotrophic differentiation

B. Mendonca, I. Arnhold, M. Bronstein, 2013, Clinics.

Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations

A. Jorge, B. Mendonca, M. Nishi, 2017, Clinical endocrinology.

Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency.

C. Kim, B. Mendonca, D. Bertola, 2016, Archives of endocrinology and metabolism.

Primary adrenal insufficiency due to bilateral adrenal infarction in COVID-19: a case report.

A. Latronico, B. Mendonca, M. Fragoso, 2021, The Journal of clinical endocrinology and metabolism.

Adrenal crisis and mortality rate in adrenal insufficiency and congenital adrenal hyperplasia.

B. Mendonca, Tania A. S. S. Bachega, L. Lousada, 2021, Archives of endocrinology and metabolism.

Adrenal Insufficiency and Glucocorticoid Use During the COVID-19 Pandemic

B. Mendonca, Madson Q. Almeida, 2020, Clinics.

SAT-355 Comparison of Two Serum Cortisol Immunoassays versus Liquid Chromatography: Tandem Mass Spectrometry (LC-MS/MS)

B. Mendonca, L. Brito, V. Lando, 2019, Journal of the Endocrine Society.

Impact of Glucocorticoid Receptor Gene Polymorphisms on the Metabolic Profile of Adult Patients with the Classical Form of 21-Hydroxylase Deficiency

B. Mendonca, L. Gomes, R. P. Moreira, 2012, PloS one.

Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.

Gabriela A. Vasques, B. Mendonca, I. Arnhold, 2010, The Journal of clinical endocrinology and metabolism.

Adult Height in 299 Patients with Turner Syndrome with or without Growth Hormone Therapy: Results and Literature Review

G. Guerra‐Júnior, B. Mendonca, R. Scalco, 2021, Hormone Research in Paediatrics.

A New Insight into the Surgical Treatment of Primary Macronodular Adrenal Hyperplasia

M. Srougi, B. Mendonca, V. Srougi, 2020, Journal of the Endocrine Society.

Real-world impact of glucocorticoid replacement therapy on bone mineral density: retrospective experience of a large single-center CAH cohort spanning 24 years

B. Ferraz-de-Souza, B. Mendonca, R. M. Martin, 2020, Osteoporosis International.

Exploring trends in the glucocorticoid and mineralocorticoid treatment of congenital adrenal hyperplasia by analysing data from the I-CAH registry

M. Korbonits, F. Darendeliler, V. Iotova, 2019, Endocrine Abstracts.

Genetic predictors of long-term response to growth hormone (GH) therapy in children with GH deficiency and Turner syndrome: the influence of a SOCS2 polymorphism.

G. Guerra‐Júnior, B. Mendonca, I. Arnhold, 2014, The Journal of clinical endocrinology and metabolism.

The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for SHOX Analysis

G. Guerra‐Júnior, A. Jorge, B. Mendonca, 2013, Hormone Research in Paediatrics.

[Short stature caused by SHOX gene haploinsufficiency: from diagnosis to treatment].

B. Mendonca, I. Arnhold, A. Jorge, 2008, Arquivos brasileiros de endocrinologia e metabologia.

The common P450 oxidoreductase variant A503V is not a modifier gene for 21-hydroxylase deficiency.

W. Miller, B. Mendonca, V. Agrawal, 2008, The Journal of clinical endocrinology and metabolism.

Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty.

J. Fortin, A. Kopin, A. Latronico, 2011, European journal of endocrinology.

Acromegalic features in growth hormore (GH)‐deficient patients after long‐term GH therapy

B. Mendonca, I. Arnhold, V. Estefan, 2003, Clinical endocrinology.

New Insights Into Pheochromocytoma Surveillance of Young Patients With VHL Missense Mutations

A. Latronico, A. Lerário, B. Mendonca, 2019, Journal of the Endocrine Society.

Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation‐dependent probe amplification: detection of a hemizygosis for the fibroblast growth factor receptor 1

M. de Castro, M. Teles, A. Latronico, 2010, Clinical endocrinology.

Tall stature and poor breast development after estrogen replacement in a hypergonadotrophic hypogonadic patient with a 45,X/46,X,der(X) karyotype with SHOX gene overdosage.

B. Mendonca, S. Domenice, M. Nishi, 2008, Arquivos brasileiros de endocrinologia e metabologia.

Clinical management of transsexual subjects.

B. Mendonca, E. Costa, 2014, Arquivos brasileiros de endocrinologia e metabologia.

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.

Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency.

C. Elias, D. Garcia-Galiano, A. Lerário, 2019, The Journal of clinical endocrinology and metabolism.

Sexuality and fertility desire in a large cohort of individuals with 46, XY differences in sex development

B. Mendonca, N. Gomes, V. Brito, 2023, Clinics.

An update of genetic basis of PCOS pathogenesis

B. Mendonca, L. Gomes, Tania A. S. S. Bachega, 2018, Archives of endocrinology and metabolism.

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

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

A Bayesian Approach to Diagnose Growth Hormone Deficiency in Children: Insulin-Like Growth Factor Type 1 Is Valuable for Screening and IGF-Binding Protein Type 3 for Confirmation

Gabriela A. Vasques, B. Mendonca, I. Arnhold, 2020, Hormone Research in Paediatrics.

Exon 3‐deleted genotype of growth hormone receptor (GHRd3) positively influences IGF‐1 increase at generation test in children with idiopathic short stature

B. Mendonca, I. Arnhold, A. Jorge, 2007, Clinical endocrinology.

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.

Contents Vol. 80, 2013

P. Czernichow, G. Rappold, H. Wallaschofski, 2014, Hormone Research in Paediatrics.

HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype

M. Dattani, S. Camper, B. Mendonca, 2016, Clinical endocrinology.

Expression of LIN28 and its regulatory microRNAs in adult adrenocortical cancer

M. Fassnacht, C. Ronchi, A. Latronico, 2015, Clinical endocrinology.

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.

Poor reproducibility of IGF-I and IGF binding protein-3 generation test in children with short stature and normal coding region of the GH receptor gene.

B. Mendonca, I. Arnhold, A. Jorge, 2002, The Journal of clinical endocrinology and metabolism.

SAT-155 High Prevalence Alterations on DNA Mismatch Repair Genes Related to Lynch Syndrome in Pediatric Patients with Adrenocortical Tumor Carried of the Germline Mutation on TP53

A. Latronico, L. Montenegro, A. Lerário, 2020, Journal of the Endocrine Society.

Clinical and Genetic Characterization of a Constitutional Delay of Growth and Puberty Cohort

Gabriela A. Vasques, A. Latronico, L. Montenegro, 2019, Neuroendocrinology.

Validation of an immunoassay for anti-Müllerian hormone measurements and reference intervals in healthy Brazilian subjects

B. Mendonca, V. Brito, H. P. L. Valassi, 2015, Annals of clinical biochemistry.

Surgical Treatment after Failed Primary Correction of Urogenital Sinus in Female Patients with Virilizing Congenital Adrenal Hyperplasia: Are Good Results Possible?

B. Mendonca, F. Dénes, L. Gomes, 2016, Frontiers in Pediatrics.

ESR1 polymorphism (rs2234693) influences femoral bone mass in patients with Turner syndrome

B. Mendonca, R. Scalco, A. Jorge, 2019, Endocrine connections.

Post-receptor IGF1 insensitivity restricted to the MAPK pathway in a Silver-Russell syndrome patient with hypomethylation at the imprinting control region on chromosome 11.

L. Montenegro, B. Mendonca, I. Arnhold, 2012, European journal of endocrinology.

Cryptic intragenic deletion of the SHOX gene in a family with Léri-Weill dyschondrosteosis detected by Multiplex Ligation-Dependent Probe Amplification (MLPA).

E. Pinto, B. Mendonca, I. Arnhold, 2008, Arquivos brasileiros de endocrinologia e metabologia.

Anorexia as the first clinical manifestation of von Hippel-Lindau syndrome.

M. Teixeira, B. Mendonca, T. Cordás, 2020, Molecular and clinical oncology.

Relatively high frequency of non‐synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly

B. Mendonca, A. Jorge, I. Arnhold, 2013, Clinical endocrinology.

IGF-1 assessed by pubertal status has the best positive predictive power for GH deficiency diagnosis in peripubertal children

Gabriela A. Vasques, B. Mendonca, I. Arnhold, 2019, Journal of pediatric endocrinology & metabolism : JPEM.

Cytogenomic Investigation of Syndromic Brazilian Patients with Differences of Sexual Development

B. Mendonca, N. Gomes, Bruno Solano de Freitas Souza, 2023, Diagnostics.

Reply to correspondence from Hall—“Detection of Y-specific sequences in patients with Turner syndrome”

B. Mendonca, S. Domenice, M. Nishi, 2002 .

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.

MAMLD1 (mastermind-like domain containing 1) homozygous gain-of-function missense mutation causing 46,XX disorder of sex development in a virilized female.

T. Ogata, B. Mendonca, S. Domenice, 2011, Advances in experimental medicine and biology.

Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders

Jun Z. Li, S. Camper, B. Mendonca, 2023, Endocrine connections.

Impact of schooling in the HIV/AIDS prevalence among Brazilian transgender women

B. Mendonca, S. Domenice, F. S. Cunha, 2020, Archives of endocrinology and metabolism.

β-catenin-driven differentiation is a tissue-specific epigenetic vulnerability in adrenal cancer.

T. Giordano, G. Hammer, S. Venneti, 2023, Cancer research.

Low frequency of pathogenic allelic variants in the 46,XY differences of sex development (DSD)-related genes in small for gestational age children with hypospadias

A. Lerário, B. Mendonca, N. Gomes, 2019, bioRxiv.

SIN3A Defects Associated with Syndromic Congenital Hypogonadotropic Hypogonadism: An Overlap with Witteveen-Kolk Syndrome

A. Latronico, B. Mendonca, A. Jorge, 2023, Neuroendocrinology.

Genotype-phenotype correlations in central precocious puberty caused by MKRN3 mutations.

J. Argente, U. Kaiser, A. Latronico, 2020, The Journal of clinical endocrinology and metabolism.

Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma.

Benjamin J Raphael, Benjamin J. Raphael, Richard A. Moore, 2016, Cancer cell.

Testosterone replacement in androgen insensitivity: is there an advantage?

B. Mendonca, R. Batista, 2018, Annals of Translational Medicine.

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.

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.

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

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

Discriminating between virilizing ovary tumors and ovary hyperthecosis in postmenopausal women: clinical data, hormonal profiles and image studies.

B. Mendonca, R. Baroni, F. Carvalho, 2017, European journal of endocrinology.

An Inhibin B and Estrogen-Secreting Adrenocortical Carcinoma Leading to Selective FSH Suppression

C. Longui, A. Latronico, B. Mendonca, 2006, Hormone Research in Paediatrics.

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 .

Amplification of the Insulin-Like Growth Factor 1 Receptor Gene Is a Rare Event in Adrenocortical Adenocarcinomas: Searching for Potential Mechanisms of Overexpression

A. Latronico, B. Mendonca, A. Jorge, 2014, BioMed research international.

Contribution of clinical and genetic approaches for diagnosing 209 index cases with 46,XY Differences of Sex Development.

L. Montenegro, A. Lerário, A. Jorge, 2022, The Journal of clinical endocrinology and metabolism.

Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency

C. Kim, B. Mendonca, D. Bertola, 2016, Archives of endocrinology and metabolism.

Methylome profiling of healthy and central precocious puberty girls

S. Ojeda, M. Maschietto, A. Lomniczi, 2018, Clinical Epigenetics.

Glucocorticoid receptor gene polymorphisms in ACTH‐secreting pituitary tumours

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

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.

Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma.

Benjamin J Raphael, Benjamin J. Raphael, Richard A. Moore, 2016, Cancer cell.

Impact of Glucocorticoid Receptor Gene Polymorphisms on the Metabolic Profile of Adult Patients with the Classical Form of 21-Hydroxylase Deficiency

B. Mendonca, Tania A. S. S. Bachega, Ricardo P. P. Moreira, 2012, PloS one.

Short stature caused by isolated SHOX gene haploinsufficiency: update on the diagnosis and treatment.

B. Mendonca, A. Jorge, M. Nishi, 2010, Pediatric endocrinology reviews : PER.

Association of glucocorticoid receptor polymorphisms with clinical and metabolic profiles in polycystic ovary syndrome

E. Baracat, B. Mendonca, J. Marcondes, 2014, Clinics.

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.

Post-receptor IGF1 insensitivity restricted to the MAPK pathway in a Silver-Russell syndrome patient with hypomethylation at the imprinting control region on chromosome 11.

L. Montenegro, B. Mendonca, I. Arnhold, 2012, European journal of endocrinology.

Role of GLI2 in hypopituitarism phenotype.

B. Mendonca, I. Arnhold, A. Jorge, 2015, Journal of molecular endocrinology.

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.

Somatomedin Levels in the Diagnosis and Therapy of Growth Hormone Deficiency

B. Mendonca, E. Spencer, Daniel Giannella-Neto, 1988, Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme.

Effectiveness of the combined recombinant human growth hormone and gonadotropin-releasing hormone analog therapy in pubertal patients with short stature due to SHOX deficiency.

B. Mendonca, I. Arnhold, R. Scalco, 2010, The Journal of clinical endocrinology and metabolism.

WT1 Pathogenic Variants are Associated with a Broad Spectrum of Differences in Sex Development Phenotypes and Heterogeneous Progression of Renal Disease

L. Onuchic, B. Mendonca, N. Gomes, 2021, Sexual Development.

SUN-710 Custom Panel to Diagnosis Genetic Endocrine Disorders in a Tertiary Academic Hospital

L. Montenegro, B. Mendonca, A. Jorge, 2020, Journal of the Endocrine Society.

Rare Variants in the MECP2 Gene in Girls with Central Precocious Puberty

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

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Discriminating between virilizing ovary tumors and ovary hyperthecosis in postmenopausal women: clinical data, hormonal profiles and image studies.

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Mutations in the type II 3β‐hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls

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

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

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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.

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

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