Lista de obras -

A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).

artículo científico publicado en 2017

A case of complete hypogonadotropic hypogonadism with a mutation in the gonadotropin-releasing hormone receptor gene.

artículo científico publicado en 2003

A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance.

artículo científico publicado en 2008

A new FSHbeta mutation in a 29-year-old woman with primary amenorrhea and isolated FSH deficiency: functional characterization and ovarian response to human recombinant FSH.

artículo científico publicado en 2009

A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib

artículo científico publicado en 2012

Aromatase gene expression and regulation in the female rat pituitary

artículo científico publicado en 2006

Calcium pyrophosphate deposition disease revealing a hypersensitivity to vitamin D.

artículo científico publicado en 2017

De novo 15q13.3 microdeletion with cryptogenic West syndrome

scientific article published on 08 August 2013

Diagnosis and management of congenital hypothyroidism associated with pseudohypoparathyroidism

artículo científico publicado en 2015

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

article by Giovanna Mantovani et al published August 2018 in Nature Reviews Endocrinology

Distinct mRNA, protein expression patterns and distribution of oestrogen receptors alpha and beta in human primary breast cancer: correlation with proliferation marker Ki-67 and clinicopathological factors

artículo científico publicado en 2005

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

artículo científico publicado en 2015

Expression of estrogen receptors in the pelvic floor of pre- and post-menopausal women presenting pelvic organ prolapse

artículo científico publicado en 2011

Familial Medullary Thyroid Carcinoma with Noncysteine RET Mutations: Phenotype-Genotype Relationship in a Large Series of Patients

article published in 2001

GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance

article

Genetic Diseases of Vitamin D Metabolizing Enzymes

artículo científico publicado en 2017

Genetic and epigenetic defects at the GNAS locus lead to distinct patterns of skeletal growth but similar early-onset obesity

artículo científico publicado en 2018

Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population

artículo científico publicado en 2016

GnRH deficiency: new insights from genetics

artículo científico publicado en 2004

Gonadotropin-releasing hormone and the control of gonadotrope function

artículo científico publicado en 2005

High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B

scientific article published on 21 March 2019

Hypercalcemia and inactive mutation of CYP24A1. Case-study and literature review

artículo científico publicado en 2017

Hyperparathyroidism complicating CYP 24A1 mutations

artículo científico publicado en 2016

Identification by array-Comparative Genomic Hybridization (array-CGH) of a large deletion of luteinizing hormone receptor gene combined with a missense mutation in a patient diagnosed with a 46,XY disorder of sex development and application to prena

artículo científico publicado en 2011

Improved Screening Test for Idiopathic Infantile Hypercalcemia Confirms Residual Levels of Serum 24,25-(OH)2 D3 in Affected Patients

artículo científico publicado en 2017

Is vitamin D a key factor in muscle health?

artículo científico publicado en 2013

Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2

artículo científico publicado en 2006

KiSS-1 and GPR54 at the pituitary level: overview and recent insights

artículo científico publicado en 2009

Kidney function and influence of sunlight exposure in patients with impaired 24-hydroxylation of vitamin D due to CYP24A1 mutations.

artículo científico publicado en 2014

Lightwood Syndrome Revisited with a Novel Mutation in CYP24 and Vitamin D Supplement Recommendations ⬇️

artículo científico publicado el 14 de junio de 2013

Lipoprotein lipase activity and common gene variants in severely hypertriglyceridemic patients with and without diabetes

artículo científico publicado en 2003

Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth

artículo científico publicado en 2015

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome

artículo científico publicado en 2003

Major hyperestrogenism in a feminizing adrenocortical adenoma despite a moderate overexpression of the aromatase enzyme

artículo científico publicado en 2003

Maternal Transmission Ratio Distortion of GNAS Loss-of-Function Mutations

artículo científico publicado en 2019

Molecular characterization of a recurrent 10.9 kb CYP24A1 deletion in Idiopathic Infantile Hypercalcemia

artículo científico publicado en 2018

Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis

artículo científico publicado en 2007

Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development.

artículo científico publicado en 2013

Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties

artículo científico publicado en 2005

Primary amenorrhea in a young Polish woman with complete androgen insensitivity syndrome and Sertoli-Leydig cell tumor: identification of a new androgen receptor gene mutation and evidence of aromatase hyperactivity and apoptosis dysregulation withi

artículo científico publicado en 2007

Pseudohypoparathyroidism type 1B associated with assisted reproductive technology.

artículo científico publicado en 2017

Resistance to epinephrine and hypersensitivity (hyperresponsiveness) to CB1 antagonists in a patient with pseudohypoparathyroidism type Ic.

artículo científico publicado en 2010

Spontaneous pregnancy in a patient who was homozygous for the Q106R mutation in the gonadotropin-releasing hormone receptor gene

artículo científico publicado en 2002

Supernumerary marker chromosomes management in prenatal diagnosis

artículo científico publicado en 2008

TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib)

artículo científico publicado en 2015

The LIM-homeodomain proteins Isl-1 and Lhx3 act with steroidogenic factor 1 to enhance gonadotrope-specific activity of the gonadotropin-releasing hormone receptor gene promoter

scientific journal article

The expression of aromatase in gonadotropes is regulated by estradiol and gonadotropin-releasing hormone in a manner that differs from the regulation of luteinizing hormone.

artículo científico publicado en 2006

The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature

artículo científico publicado en 2014

The significance of the expression of ERRalpha as a potential biomarker in breast cancer

artículo científico publicado en 2008

Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?

artículo científico publicado en 2017

[Paternal GNAS mutations: Which phenotypes? What genetic counseling?]

artículo científico publicado en 2015

Lista de obras de

A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).

A case of complete hypogonadotropic hypogonadism with a mutation in the gonadotropin-releasing hormone receptor gene.

A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance.

A new FSHbeta mutation in a 29-year-old woman with primary amenorrhea and isolated FSH deficiency: functional characterization and ovarian response to human recombinant FSH.

A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib

Aromatase gene expression and regulation in the female rat pituitary

Calcium pyrophosphate deposition disease revealing a hypersensitivity to vitamin D.

De novo 15q13.3 microdeletion with cryptogenic West syndrome

Diagnosis and management of congenital hypothyroidism associated with pseudohypoparathyroidism

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

Distinct mRNA, protein expression patterns and distribution of oestrogen receptors alpha and beta in human primary breast cancer: correlation with proliferation marker Ki-67 and clinicopathological factors

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

Expression of estrogen receptors in the pelvic floor of pre- and post-menopausal women presenting pelvic organ prolapse

Familial Medullary Thyroid Carcinoma with Noncysteine RET Mutations: Phenotype-Genotype Relationship in a Large Series of Patients

GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance

Genetic Diseases of Vitamin D Metabolizing Enzymes

Genetic and epigenetic defects at the GNAS locus lead to distinct patterns of skeletal growth but similar early-onset obesity

Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population

GnRH deficiency: new insights from genetics

Gonadotropin-releasing hormone and the control of gonadotrope function

High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B

Hypercalcemia and inactive mutation of CYP24A1. Case-study and literature review

Hyperparathyroidism complicating CYP 24A1 mutations

Identification by array-Comparative Genomic Hybridization (array-CGH) of a large deletion of luteinizing hormone receptor gene combined with a missense mutation in a patient diagnosed with a 46,XY disorder of sex development and application to prena

Improved Screening Test for Idiopathic Infantile Hypercalcemia Confirms Residual Levels of Serum 24,25-(OH)2 D3 in Affected Patients

Is vitamin D a key factor in muscle health?

Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2

KiSS-1 and GPR54 at the pituitary level: overview and recent insights

Kidney function and influence of sunlight exposure in patients with impaired 24-hydroxylation of vitamin D due to CYP24A1 mutations.

Lightwood Syndrome Revisited with a Novel Mutation in CYP24 and Vitamin D Supplement Recommendations ⬇️

Lipoprotein lipase activity and common gene variants in severely hypertriglyceridemic patients with and without diabetes

Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome

Major hyperestrogenism in a feminizing adrenocortical adenoma despite a moderate overexpression of the aromatase enzyme

Maternal Transmission Ratio Distortion of GNAS Loss-of-Function Mutations

Molecular characterization of a recurrent 10.9 kb CYP24A1 deletion in Idiopathic Infantile Hypercalcemia

Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis

Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development.

Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties

Primary amenorrhea in a young Polish woman with complete androgen insensitivity syndrome and Sertoli-Leydig cell tumor: identification of a new androgen receptor gene mutation and evidence of aromatase hyperactivity and apoptosis dysregulation withi

Pseudohypoparathyroidism type 1B associated with assisted reproductive technology.

Resistance to epinephrine and hypersensitivity (hyperresponsiveness) to CB1 antagonists in a patient with pseudohypoparathyroidism type Ic.

Spontaneous pregnancy in a patient who was homozygous for the Q106R mutation in the gonadotropin-releasing hormone receptor gene

Supernumerary marker chromosomes management in prenatal diagnosis

TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib)

The LIM-homeodomain proteins Isl-1 and Lhx3 act with steroidogenic factor 1 to enhance gonadotrope-specific activity of the gonadotropin-releasing hormone receptor gene promoter

The expression of aromatase in gonadotropes is regulated by estradiol and gonadotropin-releasing hormone in a manner that differs from the regulation of luteinizing hormone.

The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature

The significance of the expression of ERRalpha as a potential biomarker in breast cancer

Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?

[Paternal GNAS mutations: Which phenotypes? What genetic counseling?]

Molecular characterization of a recurrent 10.9 kb CYP24A1 deletion in Idiopathic Infantile Hypercalcemia