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List of works by Ana Claudia Latronico Xavier

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

scientific article

A Unique Constitutively Activating Mutation in Third Transmembrane Helix of Luteinizing Hormone Receptor Causes Sporadic Male Gonadotropin-Independent Precocious Puberty1 ⬇️

scientific article published on July 1, 1998

A boy with Prader-Willi syndrome: unmasking precocious puberty during growth hormone replacement therapy.

scientific article published on 25 August 2016

A new pathway in the control of the initiation of puberty: the MKRN3 gene

scientific article

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

scientific article published on 06 April 2010

A novel missense mutation (S18N) in the 5' non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives

scientific article published in February 1998

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

scientific article published in September 2004

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

article

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

scientific article

Abstract 3464: Prognostic value of DICER1 expression in adrenocortical cancer patients

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

scientific article published in June 1998

Adrenocortical carcinoma

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

scientific article published on 28 March 2006

Altered expression of noncanonical Wnt pathway genes in paediatric and adult adrenocortical tumours

article

Amplification of the insulin-like growth factor 1 receptor gene is a rare event in adrenocortical adenocarcinomas: searching for potential mechanisms of overexpression

scientific article

An ancient founder mutation in PROKR2 impairs human reproduction

scientific article

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

scientific article published on 01 October 2001

An inhibin B and estrogen-secreting adrenocortical carcinoma leading to selective FSH suppression

scientific article

Approach to the patient with hypogonadotropic hypogonadism.

scientific article published on May 2013

Avanços na etiologia, no diagnóstico e no tratamento da puberdade precoce central

scientific article published on 01 March 2014

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

scientific article published in February 1996

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

scientific article published on 01 September 1994

Causes, diagnosis, and treatment of central precocious puberty

scientific article published on 3 February 2016

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

scientific article

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

scientific article

Clinical and Hormonal Features of a Male Adolescent with Congenital Isolated Follicle-Stimulating Hormone Deficiency

scientific article

Clinical and molecular aspects of a pediatric metachronous adrenocortical tumor

scientific article published on 01 February 2011

Clinical assessment and molecular analysis of GnRHR and KAL1 genes in males with idiopathic hypogonadotrophic hypogonadism.

scientific article published in February 2007

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

article

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

scientific article published on 28 May 2013

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

scientific article published in May 2003

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

scientific article published on 18 May 2015

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

scientific article

Disorders of sex development and hypogonadism: genetics, mechanism, and therapies.

scientific article

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

scientific article published on 31 May 2016

Evaluating the roles of follicle-stimulating hormone receptor polymorphisms in gonadal hyperstimulation associated with severe juvenile primary hypothyroidism

scientific article published on 13 March 2007

Evidence of the Importance of the First Intracellular Loop of Prokineticin Receptor 2 in Receptor Function ⬇️

scientific article published on June 28, 2012

Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.

scientific article

Expression of LIN28 and its regulatory microRNAs in adult adrenocortical cancer

scientific article published on 3 November 2014

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

scientific article published on 29 October 2008

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

scientific article

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

scientific article published on 6 May 2008

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

scientific article

Genetic insights into human isolated gonadotropin deficiency.

scientific article published on January 2007

Genetics basis for GnRH-dependent pubertal disorders in humans.

scientific article published on 25 February 2010

Glucocorticoid receptor gene polymorphisms in ACTH-secreting pituitary tumours.

scientific article published in November 2002

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

scientific article

Human diseases associated with GPR54 mutations.

scientific article published on 07 October 2009

Impact of mutations in kisspeptin and neurokinin B signaling pathways on human reproduction.

scientific article published on 23 September 2010

Inactivating mutations of the human luteinizing hormone receptor in both sexes

scientific article published on 08 October 2012

Insulin-like growth factor system on adrenocortical tumorigenesis

scientific article published on 14 October 2011

KISS1R intracellular trafficking and degradation: effect of the Arg386Pro disease-associated mutation.

scientific article

Kisspeptin and clinical disorders.

scientific article published on January 2013

Letter re: FSH Receptor Polymorphisms and Iatrogenic Ovarian Hyperstimulation

scientific article published on 01 August 2005

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

scientific article

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

article

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

scientific article

Luteinizing Hormone Resistance Syndromes

scientific article published on 01 June 1997

Luteinizing hormone beta mutation and hypogonadism in men and women

scientific article published in August 2007

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

article

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

scientific article

MicroRNA era: the importance for diagnosis and prognosis of adrenocortical tumors

scientific article

Misfolding Ectodomain Mutations of the Lutropin Receptor Increase Efficacy of Hormone Stimulation

scientific article

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

article

Molecular and Genetic Aspects of Congenital Isolated Hypogonadotropic Hypogonadism.

scientific article published on 23 February 2017

Molecular and gene network analysis of thyroid transcription factor 1 (TTF1) and enhanced at puberty (EAP1) genes in patients with GnRH-dependent pubertal disorders.

scientific article published on 18 September 2013

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

article

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

scientific article published on December 2012

Mutational analysis of the genes encoding RFamide-related peptide-3, the human orthologue of gonadotrophin-inhibitory hormone, and its receptor (GPR147) in patients with gonadotrophin-releasing hormone-dependent pubertal disorders

scientific article published in November 2014

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

scientific article

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

article

Mutations of the KISS1 gene in disorders of puberty

scientific article

Myocardial Inactivation of Thyroid Hormones in Patients with Aortic Stenosis

scientific article published on 17 January 2017

Naturally occurring mutations of the luteinizing-hormone receptor: lessons learned about reproductive physiology and G protein-coupled receptors.

scientific article

New causes of central precocious puberty: the role of genetic factors.

scientific article published on 09 August 2014

New digital tool to facilitate subcutaneous insulin therapy orders: an inpatient insulin dose calculator

scientific article

New genetic factors implicated in human GnRH-dependent precocious puberty: The role of kisspeptin system ⬇️

scientific article published on October 22, 2011

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

scientific article published in November 2000

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

article

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

scientific article published on 12 May 2010

Normal bone mass and normocalcemia in adulthood despite homozygous vitamin D receptor mutations

scientific article published on 24 February 2015

Novel Fibroblast Growth Factor Receptor 1 Mutations in Patients with Congenital Hypogonadotropic Hypogonadism with and without Anosmia

scientific article published on 01 August 2006

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

scientific article published on 6 June 2011

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

article

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

scientific article published in February 1997

POD-1 binding to the E-box sequence inhibits SF-1 and StAR expression in human adrenocortical tumor cells

scientific article published on 9 January 2013

Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty.

scientific article published on 27 January 2017

Pioneering studies on monogenic central precocious puberty

scientific article published on 22 August 2019

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

scientific article published in November 2002

Progression to adrenocortical tumorigenesis in mice and humans through insulin-like growth factor 2 and β-catenin

scientific article

Puberty: When is it normal?

scientific article published on 01 April 2015

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

scientific article

Role of kisspeptin/GPR54 system in human reproductive axis.

scientific article published on 08 April 2010

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.

scientific article published on 29 May 2009

Selection of adrenal tumor cells in culture demonstrated by interphase cytogenetics

article

Sonic hedgehog signaling is active in human adrenal cortex development and deregulated in adrenocortical tumors

scientific article published on 8 April 2014

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

scientific article published on 15 January 2010

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

scientific article

TACR3 mutations disrupt NK3R function through distinct mechanisms in GnRH-deficient patients.

scientific article published on 27 December 2013

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

scientific article published on 23 October 2012

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

article

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

scientific article published in April 2001

The molecular pathogenesis of childhood adrenocortical tumors.

scientific article published on June 2007

The neurokinin B pathway in human reproduction

scientific article

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

scientific article

The role of prokineticins in the pathogenesis of hypogonadotropic hypogonadism

scientific article

Time Course of Central Precocious Puberty Development Caused by an MKRN3 Gene Mutation: A Prismatic Case.

scientific article published on 16 July 2016

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

scientific article published in June 2001

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