Lista de obras - Martine Cools - Dominio Público Uruguay

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 multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development

artículo científico publicado en 2011

A nonmosaic 45,X karyotype in a mother with Turner's syndrome and in her daughter

artículo científico publicado en 2004

Addressing gaps in care of people with conditions affecting sex development and maturation

scientific article published on 12 August 2019

Adverse neonatal outcome after maternal biliopancreatic diversion operation: report of nine cases

artículo científico publicado en 2006

An update on surgical and non-surgical treatments for vaginal hypoplasia

artículo científico publicado en 2014

Androgen receptor expression in preputial dartos tissue correlates with physiological androgen exposure in congenital malformations of the penis and in controls

artículo científico publicado en 2019

Androgen receptor function links human sexual dimorphism to DNA methylation

artículo científico publicado en 2013

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

artículo científico publicado en 2017

Birth Weight in Different Etiologies of Disorders of Sex Development

artículo científico publicado en 2017

Calcium and bone homeostasis in heterozygous carriers of CYP24A1 mutations: A cross-sectional study.

artículo científico

Cardiovascular pathology in males and females with 45,X/46,XY mosaicism

artículo científico publicado en 2013

Caring for individuals with a difference of sex development (DSD): a Consensus Statement

article

Changes over time in sex assignment for disorders of sex development.

artículo científico publicado en 2014

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

scientific article published on 10 December 2019

Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis

artículo científico publicado en 2019

Clinical guideline 'Turner syndrome'

artículo científico publicado en 2014

Clinical presentation and outcome of children with central diabetes insipidus associated with a self-limited or transient pituitary stalk thickening, diagnosed as infundibuloneurohypophysitis.

artículo científico publicado en 2017

Cognitive, Emotional, and Psychosocial Functioning of Girls Treated with Pharmacological Puberty Blockage for Idiopathic Central Precocious Puberty

artículo científico publicado en 2016

Complete androgen insensitivity syndrome: factors influencing gonadal histology including germ cell pathology.

artículo científico publicado en 2013

Conditional islet hypovascularisation does not preclude beta cell expansion during pregnancy in mice

artículo científico publicado en 2017

Consecutive Cyproterone Acetate and Estradiol Treatment in Late-Pubertal Transgender Female Adolescents

artículo científico publicado en 2017

Consecutive lynestrenol and cross-sex hormone treatment in biological female adolescents with gender dysphoria: a retrospective analysis

artículo científico publicado en 2016

Costs of pleasure and the benefits of pain: self-perceived genital sensation, anatomy and sexual dysfunction

artículo científico publicado en 2015

Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism

artículo científico publicado en 2017

Differentiation and development of human female germ cells during prenatal gonadogenesis: an immunohistochemical study.

artículo científico publicado en 2005

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

artículo científico publicado en 2016

Disorders of sex development: update on the genetic background, terminology and risk for the development of germ cell tumors

artículo científico publicado en 2009

Do surgical interventions influence psychosexual and cosmetic outcomes in women with disorders of sex development?

artículo científico publicado en 2012

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

artículo científico publicado en 2018

Evaluation of DSD training schools organized by cost action BM1303 "DSDnet"

artículo científico publicado en 2018

Evaluation of the hypothalamic-pituitary-adrenal axis and its relationship with central respiratory dysfunction in children with Prader-Willi syndrome.

artículo científico publicado en 2015

Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development

artículo científico publicado en 2014

Families with pediatric type 1 diabetes: A comparison with the general population on child well-being, parental distress, and parenting behavior

scientific article published on 17 November 2019

GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’

artículo científico publicado en 2018

Germ cell cancer risk in DSD patients

artículo científico

Germ cell tumors in the intersex gonad: old paths, new directions, moving frontiers

artículo científico publicado en 2006

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.

artículo científico publicado en 2017

Gonadal development and tumor formation at the crossroads of male and female sex determination.

artículo científico publicado en 2011

Gonadal dysgenesis in disorders of sex development: Diagnosis and surgical management

artículo científico publicado en 2016

Gonadal maldevelopment as risk factor for germ cell cancer: towards a clinical decision model

artículo científico

Gonadal malignancy in 13 consecutive collected patients with disorders of sex development (DSD) from Semarang (Indonesia).

artículo científico publicado en 2012

Gonadal pathology and tumor risk in relation to clinical characteristics in patients with 45,X/46,XY mosaicism.

artículo científico publicado en 2011

Gonadal tumours and DSD.

artículo científico publicado en 2010

Gonadoblastoma arising in undifferentiated gonadal tissue within dysgenetic gonads

artículo científico publicado en 2006

Histological Assessment of Gonads in DSD: Relevance for Clinical Management.

artículo científico publicado en 2017

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

scientific article published on September 2016

Identification of germ cells at risk for neoplastic transformation in gonadoblastoma: an immunohistochemical study for OCT3/4 and TSPY.

artículo científico publicado en 2005

Impact of the Y-containing cell line on histological differentiation patterns in dysgenetic gonads

artículo científico publicado en 2007

Involving Individuals with Disorders of Sex Development and Their Parents in Exploring New Models of Shared Learning: Proceedings from a DSDnet COST Action Workshop

artículo científico publicado en 2018

Long-term effects of specific immunotherapy, administered during childhood, in asthmatic patients allergic to either house-dust mite or to both house-dust mite and grass pollen

artículo científico publicado en 2000

Long-term psychosexual and anatomical outcome after vaginal dilation or vaginoplasty: a comparative study

artículo científico publicado en 2012

Male gender identity in complete androgen insensitivity syndrome

artículo científico publicado en 2010

Malignant testicular germ cell tumors in postpubertal individuals with androgen insensitivity: prevalence, pathology and relevance of single nucleotide polymorphism-based susceptibility profiling.

artículo científico publicado en 2017

Management of Gonads in Adults with Androgen Insensitivity: An International Survey

artículo científico publicado en 2018

Maturation delay of germ cells in fetuses with trisomy 21 results in increased risk for the development of testicular germ cell tumors

artículo científico publicado en 2006

Mindfulness, Worries, and Parenting in Parents of Children With Type 1 Diabetes

scientific article published on 01 May 2019

Morphological and immunohistochemical differences between gonadal maturation delay and early germ cell neoplasia in patients with undervirilization syndromes.

artículo científico publicado en 2005

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

scientific journal article

New insights into type II germ cell tumor pathogenesis based on studies of patients with various forms of disorders of sex development (DSD).

artículo científico publicado en 2008

Non-coding variation in disorders of sex development.

artículo científico publicado en 2016

Novel associations in disorders of sex development: findings from the I-DSD Registry

artículo científico publicado en 2013

Partial deletion of the NR5A1 (SF1) gene detected by synthetic probe MLPA in a patient with XY gonadal disorder of sex development.

artículo científico publicado en 2011

Proandrogenic and Antiandrogenic Progestins in Transgender Youth: Differential Effects on Body Composition and Bone Metabolism

article

Pubertal androgenization and gonadal histology in two 46,XY adolescents with NR5A1 mutations and predominantly female phenotype at birth

artículo científico publicado en 2011

Rare and special robotic surgery indications in the pediatric population: ectopic organs and differences of sexual development

scientific article published on 22 August 2019

Requirements for a multicentric multidisciplinary registry on patients with disorders of sex development.

artículo científico publicado en 2012

Response to the Council of Europe Human Rights Commissioner's Issue Paper on Human Rights and Intersex People

artículo científico publicado en 2016

SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated patient's management.

artículo científico publicado en 2016

Self-assessment of genital anatomy and sexual function within a Belgian, Dutch-speaking female population: a validation study

artículo científico publicado en 2013

Sexual quality of life after hormonal and surgical treatment, including phalloplasty, in men with micropenis: a review

artículo científico

Sexual quality of life after total phalloplasty in men with penile deficiency: an exploratory study

artículo científico publicado en 2014

Standardised data collection for clinical follow-up and assessment of outcomes in differences of sex development (DSD): recommendations from the COST action DSDnet

scientific article published on 01 November 2019

Stem cell factor as a novel diagnostic marker for early malignant germ cells.

artículo científico publicado en 2008

The EuRRECa Project as a Model for Data Access and Governance Policies for Rare Disease Registries That Collect Clinical Outcomes

scientific article published on 25 November 2020

The External Genitalia Score (EGS): A European Multicenter Validation Study

artículo científico publicado en 2020

The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene

artículo científico publicado en 2016

The biology of germ cell tumors in disorders of sex development

artículo científico publicado en 2016

The contribution of the androgen receptor (AR) in human spatial learning and memory: A study in women with complete androgen insensitivity syndrome (CAIS).

artículo científico publicado en 2015

The current landscape of European registries for rare endocrine conditions

artículo científico publicado en 2019

Tumor risk and clinical follow-up in patients with disorders of sex development.

artículo científico

Tumor risk in disorders of sex development (DSD).

artículo científico publicado en 2007

Tumor risk in disorders of sex development.

artículo científico publicado en 2010

Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development

artículo científico publicado en 2020

Update on the Pathophysiology and Risk Factors for the Development of Malignant Testicular Germ Cell Tumors in Complete Androgen Insensitivity Syndrome

artículo científico

Vaginal dilation treatment in women with vaginal hypoplasia: a prospective one-year follow-up study

artículo científico publicado en 2014

Variable loss of functional activities of androgen receptor mutants in patients with androgen insensitivity syndrome

artículo científico publicado en 2013

[Atypical genital development and tumor risk]

scientific article published on 23 March 2019

Lista de obras de Martine Cools

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

A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development

A nonmosaic 45,X karyotype in a mother with Turner's syndrome and in her daughter

Addressing gaps in care of people with conditions affecting sex development and maturation

Adverse neonatal outcome after maternal biliopancreatic diversion operation: report of nine cases

An update on surgical and non-surgical treatments for vaginal hypoplasia

Androgen receptor expression in preputial dartos tissue correlates with physiological androgen exposure in congenital malformations of the penis and in controls

Androgen receptor function links human sexual dimorphism to DNA methylation

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

Birth Weight in Different Etiologies of Disorders of Sex Development

Calcium and bone homeostasis in heterozygous carriers of CYP24A1 mutations: A cross-sectional study.

Cardiovascular pathology in males and females with 45,X/46,XY mosaicism

Caring for individuals with a difference of sex development (DSD): a Consensus Statement

Changes over time in sex assignment for disorders of sex development.

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

Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis

Clinical guideline 'Turner syndrome'

Clinical presentation and outcome of children with central diabetes insipidus associated with a self-limited or transient pituitary stalk thickening, diagnosed as infundibuloneurohypophysitis.

Cognitive, Emotional, and Psychosocial Functioning of Girls Treated with Pharmacological Puberty Blockage for Idiopathic Central Precocious Puberty

Complete androgen insensitivity syndrome: factors influencing gonadal histology including germ cell pathology.

Conditional islet hypovascularisation does not preclude beta cell expansion during pregnancy in mice

Consecutive Cyproterone Acetate and Estradiol Treatment in Late-Pubertal Transgender Female Adolescents

Consecutive lynestrenol and cross-sex hormone treatment in biological female adolescents with gender dysphoria: a retrospective analysis

Costs of pleasure and the benefits of pain: self-perceived genital sensation, anatomy and sexual dysfunction

Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism

Differentiation and development of human female germ cells during prenatal gonadogenesis: an immunohistochemical study.

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

Disorders of sex development: update on the genetic background, terminology and risk for the development of germ cell tumors

Do surgical interventions influence psychosexual and cosmetic outcomes in women with disorders of sex development?

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

Evaluation of DSD training schools organized by cost action BM1303 "DSDnet"

Evaluation of the hypothalamic-pituitary-adrenal axis and its relationship with central respiratory dysfunction in children with Prader-Willi syndrome.

Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development

Families with pediatric type 1 diabetes: A comparison with the general population on child well-being, parental distress, and parenting behavior

GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’

Germ cell cancer risk in DSD patients

Germ cell tumors in the intersex gonad: old paths, new directions, moving frontiers

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.

Gonadal development and tumor formation at the crossroads of male and female sex determination.

Gonadal dysgenesis in disorders of sex development: Diagnosis and surgical management

Gonadal maldevelopment as risk factor for germ cell cancer: towards a clinical decision model

Gonadal malignancy in 13 consecutive collected patients with disorders of sex development (DSD) from Semarang (Indonesia).

Gonadal pathology and tumor risk in relation to clinical characteristics in patients with 45,X/46,XY mosaicism.

Gonadal tumours and DSD.

Gonadoblastoma arising in undifferentiated gonadal tissue within dysgenetic gonads

Histological Assessment of Gonads in DSD: Relevance for Clinical Management.

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

Identification of germ cells at risk for neoplastic transformation in gonadoblastoma: an immunohistochemical study for OCT3/4 and TSPY.

Impact of the Y-containing cell line on histological differentiation patterns in dysgenetic gonads

Involving Individuals with Disorders of Sex Development and Their Parents in Exploring New Models of Shared Learning: Proceedings from a DSDnet COST Action Workshop

Long-term effects of specific immunotherapy, administered during childhood, in asthmatic patients allergic to either house-dust mite or to both house-dust mite and grass pollen

Long-term psychosexual and anatomical outcome after vaginal dilation or vaginoplasty: a comparative study

Male gender identity in complete androgen insensitivity syndrome

Malignant testicular germ cell tumors in postpubertal individuals with androgen insensitivity: prevalence, pathology and relevance of single nucleotide polymorphism-based susceptibility profiling.

Management of Gonads in Adults with Androgen Insensitivity: An International Survey

Maturation delay of germ cells in fetuses with trisomy 21 results in increased risk for the development of testicular germ cell tumors

Mindfulness, Worries, and Parenting in Parents of Children With Type 1 Diabetes

Morphological and immunohistochemical differences between gonadal maturation delay and early germ cell neoplasia in patients with undervirilization syndromes.

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

New insights into type II germ cell tumor pathogenesis based on studies of patients with various forms of disorders of sex development (DSD).

Non-coding variation in disorders of sex development.

Novel associations in disorders of sex development: findings from the I-DSD Registry

Partial deletion of the NR5A1 (SF1) gene detected by synthetic probe MLPA in a patient with XY gonadal disorder of sex development.

Proandrogenic and Antiandrogenic Progestins in Transgender Youth: Differential Effects on Body Composition and Bone Metabolism

Pubertal androgenization and gonadal histology in two 46,XY adolescents with NR5A1 mutations and predominantly female phenotype at birth

Rare and special robotic surgery indications in the pediatric population: ectopic organs and differences of sexual development

Requirements for a multicentric multidisciplinary registry on patients with disorders of sex development.

Response to the Council of Europe Human Rights Commissioner's Issue Paper on Human Rights and Intersex People

SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated patient's management.

Self-assessment of genital anatomy and sexual function within a Belgian, Dutch-speaking female population: a validation study

Sexual quality of life after hormonal and surgical treatment, including phalloplasty, in men with micropenis: a review

Sexual quality of life after total phalloplasty in men with penile deficiency: an exploratory study

Standardised data collection for clinical follow-up and assessment of outcomes in differences of sex development (DSD): recommendations from the COST action DSDnet

Stem cell factor as a novel diagnostic marker for early malignant germ cells.

The EuRRECa Project as a Model for Data Access and Governance Policies for Rare Disease Registries That Collect Clinical Outcomes

The External Genitalia Score (EGS): A European Multicenter Validation Study

The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene

The biology of germ cell tumors in disorders of sex development

The contribution of the androgen receptor (AR) in human spatial learning and memory: A study in women with complete androgen insensitivity syndrome (CAIS).