Lista de obras - Ralf Werner - Dominio Público Uruguay

46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing

artículo científico publicado en 2015

46,XY disorder of sex development in a sudanese patient caused by a novel mutation in the HSD17B3 gene

artículo científico publicado en 2014

A Recurrent Germline Mutation in the 5'UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation

artículo científico publicado en 2016

A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene

artículo científico publicado en 2014

Androgen Receptor Mutations Are Associated with Altered Epigenomic Programming as Evidenced by HOXA5 Methylation

artículo científico publicado en 2011

Androgen receptor function links human sexual dimorphism to DNA methylation

artículo científico publicado en 2013

Apolipoprotein D (APOD) is a putative biomarker of androgen receptor function in androgen insensitivity syndrome

artículo científico publicado en 2009

CYP17A1 deficient XY mice display susceptibility to atherosclerosis, altered lipidomic profile and atypical sex development

artículo científico publicado en 2020

Can Non-Coding <b><i>NR5A1</i></b> Gene Variants Explain Phenotypes of Disorders of Sex Development?

artículo científico publicado en 2022

Clinical Findings and Follow-Up of 46,XY and 45,X/46,XY Testicular Dysgenesis

scientific article published on 10 December 2019

Detection and tissue distribution of potato spindle tuberviroid in infected tomato plants by tissue print hybridization.

artículo científico publicado en 1997

Different pattern of epigenetic changes of the GNAS gene locus in patients with pseudohypoparathyroidism type Ic confirm the heterogeneity of underlying pathomechanisms in this subgroup of pseudohypoparathyroidism and the demand for a new classifica

artículo científico publicado en 2014

Disorders of sex development expose transcriptional autonomy of genetic sex and androgen-programmed hormonal sex in human blood leukocytes

artículo científico publicado en 2009

Epigenetic Repression of Androgen Receptor Transcription in Mutation-Negative Androgen Insensitivity Syndrome (AIS Type II)

artículo científico publicado en 2018

European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study

artículo científico publicado en 2014

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

artículo científico publicado en 2016

Functional Impact of Novel Androgen Receptor Mutations on the Clinical Manifestation of Androgen Insensitivity Syndrome.

artículo científico publicado en 2017

Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction ⬇️

artículo científico publicado el 12 de abril de 2011

Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex development

artículo científico publicado en 2017

Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus

article

Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure

artículo científico publicado en 2004

Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity

scientific article published on September 2016

In Vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis

article

In-vitro characterization of androgen receptor mutations associated with complete androgen insensitivity syndrome reveals distinct functional deficits.

artículo científico publicado en 2008

Intrinsic androgen-dependent gene expression patterns revealed by comparison of genital fibroblasts from normal males and individuals with complete and partial androgen insensitivity syndrome

artículo científico publicado en 2007

Isolation of viroid-RNA-binding proteins from an expression library with nonradioactive-labeled RNA probes

scientific article published on 01 August 1995

Molecular features and clinical phenotypes in androgen insensitivity syndrome in the absence and presence of androgen receptor gene mutations.

artículo científico publicado en 2005

Mutation analysis of FOXF2 in patients with disorders of sex development (DSD) in combination with cleft palate

artículo científico publicado en 2008

Mutations in the amino-terminal domain of the human androgen receptor may be associated with partial androgen insensitivity and impaired transactivation in vitro.

artículo científico publicado en 2005

New NR5A1 mutations and phenotypic variations of gonadal dysgenesis

artículo científico publicado en 2017

Novel Insights into 46,XY Disorders of Sex Development due to NR5A1 Gene Mutation

artículo científico publicado en 2015

Novel mosaic variants in two patients with Cornelia de Lange syndrome.

artículo científico publicado en 2017

Nucleotide sequence of a cathepsin D inhibitor protein from tomato.

artículo científico publicado en 1993

Oestrogen versus androgen in hormone-replacement therapy for complete androgen insensitivity syndrome: a multicentre, randomised, double-dummy, double-blind crossover trial

artículo científico publicado en 2018

Preserved Fertility in a Patient with Gynecomastia Associated with the p.Pro695Ser Mutation in the Androgen Receptor

scientific article published on 15 November 2014

Reduced Androgen Receptor Expression in Genital Skin Fibroblasts From Patients With 45,X/46,XY Mosaicism

scientific article published on 01 October 2019

Requirement for basement membrane laminin α5 during urethral and external genital development

artículo científico publicado en 2016

Selective deficiency of Gsalpha and the possible role of alternative gene products of GNAS in Albright hereditary osteodystrophy and pseudohypoparathyroidism type Ia.

scientific article published on 05 August 2009

Lista de obras de Ralf Werner

46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing

46,XY disorder of sex development in a sudanese patient caused by a novel mutation in the HSD17B3 gene

A Recurrent Germline Mutation in the 5'UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation

A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene

Androgen Receptor Mutations Are Associated with Altered Epigenomic Programming as Evidenced by HOXA5 Methylation

Androgen receptor function links human sexual dimorphism to DNA methylation

Apolipoprotein D (APOD) is a putative biomarker of androgen receptor function in androgen insensitivity syndrome

CYP17A1 deficient XY mice display susceptibility to atherosclerosis, altered lipidomic profile and atypical sex development

Can Non-Coding <b><i>NR5A1</i></b> Gene Variants Explain Phenotypes of Disorders of Sex Development?

Clinical Findings and Follow-Up of 46,XY and 45,X/46,XY Testicular Dysgenesis

Detection and tissue distribution of potato spindle tuberviroid in infected tomato plants by tissue print hybridization.

Different pattern of epigenetic changes of the GNAS gene locus in patients with pseudohypoparathyroidism type Ic confirm the heterogeneity of underlying pathomechanisms in this subgroup of pseudohypoparathyroidism and the demand for a new classifica

Disorders of sex development expose transcriptional autonomy of genetic sex and androgen-programmed hormonal sex in human blood leukocytes

Epigenetic Repression of Androgen Receptor Transcription in Mutation-Negative Androgen Insensitivity Syndrome (AIS Type II)

European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

Functional Impact of Novel Androgen Receptor Mutations on the Clinical Manifestation of Androgen Insensitivity Syndrome.

Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction ⬇️

Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex development

Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus

Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure

Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity

In Vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis

In-vitro characterization of androgen receptor mutations associated with complete androgen insensitivity syndrome reveals distinct functional deficits.

Intrinsic androgen-dependent gene expression patterns revealed by comparison of genital fibroblasts from normal males and individuals with complete and partial androgen insensitivity syndrome

Isolation of viroid-RNA-binding proteins from an expression library with nonradioactive-labeled RNA probes

Molecular features and clinical phenotypes in androgen insensitivity syndrome in the absence and presence of androgen receptor gene mutations.

Mutation analysis of FOXF2 in patients with disorders of sex development (DSD) in combination with cleft palate

Mutations in the amino-terminal domain of the human androgen receptor may be associated with partial androgen insensitivity and impaired transactivation in vitro.

New NR5A1 mutations and phenotypic variations of gonadal dysgenesis

Novel Insights into 46,XY Disorders of Sex Development due to NR5A1 Gene Mutation

Novel mosaic variants in two patients with Cornelia de Lange syndrome.

Nucleotide sequence of a cathepsin D inhibitor protein from tomato.

Oestrogen versus androgen in hormone-replacement therapy for complete androgen insensitivity syndrome: a multicentre, randomised, double-dummy, double-blind crossover trial

Preserved Fertility in a Patient with Gynecomastia Associated with the p.Pro695Ser Mutation in the Androgen Receptor

Reduced Androgen Receptor Expression in Genital Skin Fibroblasts From Patients With 45,X/46,XY Mosaicism

Requirement for basement membrane laminin α5 during urethral and external genital development

Selective deficiency of Gsalpha and the possible role of alternative gene products of GNAS in Albright hereditary osteodystrophy and pseudohypoparathyroidism type Ia.