Lista de obras -

A Multicenter Retrospective Review of Pediatric Leydig Cell Tumor of the Testis.

artículo científico publicado en 2018

A Multidisciplinary Approach to Puberty and Fertility in Girls with Turner Syndrome

artículo científico publicado en 2016

A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature

artículo científico publicado en 2014

Activation of cyclic AMP signaling leads to different pathway alterations in lesions of the adrenal cortex caused by germline PRKAR1A defects versus those due to somatic GNAS mutations

artículo científico publicado en 2012

Androgen Insensitivity Syndrome: Management Considerations from Infancy to Adulthood.

artículo científico

Assessing sex assignment concordance with genotype and phenotype

artículo científico publicado en 2013

Association of immunohistochemical markers with premalignancy in Gonadal Dysgenesis

artículo científico publicado en 2015

Autosomal Dominant Pseudohypoaldosteronism Type 1: Mechanisms, Evidence for Neonatal Lethality, and Phenotypic Expression in Adults

article

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

Bringing Back the Term "Intersex".

artículo científico publicado en 2017

Case 2: 3-month-old Boy with Micropenis

artículo científico publicado en 2018

Case 2: A 4-year-old Boy with Recurrent Vomiting

scientific article published on 01 August 2019

Challenges in Prenatal Treatment with Dexamethasone

artículo científico publicado en 2018

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.

artículo científico publicado en 2009

Consensus in Guidelines for Evaluation of DSD by the Texas Children's Hospital Multidisciplinary Gender Medicine Team ⬇️

artículo científico publicado el 17 de octubre de 2010

Continuous glucose monitoring and the reality of metabolic control in preschool children with type 1 diabetes

artículo científico publicado en 2004

Diagnosis and Management of Precocious Puberty in Atypical Presentations of McCune-Albright Syndrome: A Case Series Review ⬇️

artículo científico publicado el 3 de noviembre de 2011

Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation ⬇️

artículo científico publicado el 6 de julio de 2011

Ectopic adrenocorticotropic hormone and corticotropin-releasing hormone co-secreting tumors in children and adolescents causing cushing syndrome: a diagnostic dilemma and how to solve it

artículo científico publicado en 2015

Effects of 1,25-dihydroxycholecalciferol on recovery and resolution of late transient neonatal hypocalcemia

artículo científico publicado en 2010

Ethical and legal implications of genetic testing in androgen insensitivity syndrome

article

Evidence-Based Management of Patients with 45,X/46,XY Gonadal Dysgenesis and Male Sex Assignment: from Infancy to Adulthood

artículo científico publicado en 2016

FSH Injections and Ultrasonography Determine Presence of Ovarian Components in the Evaluation of Ovotesticular Disorders of Sex Development

artículo científico publicado en 2009

Guidelines for evaluating and managing children born with disorders of sexual development

artículo científico publicado en 2012

Hormones and their Structural and Functional Effects on the Brain: How Can We Change our Practice Moving Forward?

artículo científico publicado en 2019

Insulin pump therapy in preschool children with type 1 diabetes mellitus improves glycemic control and decreases glucose excursions and the risk of hypoglycemia.

artículo científico publicado en 2005

Intrauterine growth restriction and hypospadias: is there a connection?

artículo científico publicado en 2014

It's X-Related: Biological Bases of Increased COVID-19 Morbidity and Mortality in Men

artículo científico publicado en 2020

McCune-Albright Syndrome With Unremitting Hyperthyroidism at Early Age: Management Perspective for Early Thyroidectomy

scientific article published on 09 September 2019

Neonatal diabetes mellitus: patient reports and review of current knowledge and clinical practice.

artículo científico publicado en 2005

Neurocognitive profile of a young adolescent with DK phocomelia/von Voss phocomelia/von Voss Cherstvoy syndrome.

artículo científico publicado en 2015

Nonclassical congenital adrenal hyperplasia: targets of treatment and transition

artículo científico

One is the loneliest number: genotypic matchmaking using the electronic health record

artículo científico publicado en 2021

Osteopenic effects of MgSO4 in multiple pregnancies

artículo científico publicado en 2006

Paternalism in DSD Management: A Real and Present Threat

artículo científico publicado en 2021

Patients' and Caregivers' Attitudes toward 'Disorders of Sex Development' Nomenclature

scientific article published on 10 April 2020

Persistent Diabetes Mellitus Postadrenalectomy in Neonatal McCune-Albright Syndrome

artículo científico publicado en 2017

Pituitary and systemic autoimmunity in a case of intrasellar germinoma

artículo científico publicado en 2009

Rapid resolution of consumptive hypothyroidism in a child with hepatic hemangioendothelioma following liver transplantation.

artículo científico publicado en 2007

Residual manifestations of hypercortisolemia following surgical treatment in a patient with Cushing syndrome

artículo científico publicado en 2015

Review of the phenotypic spectrum associated with haploinsufficiency of MYRF

artículo científico publicado en 2019

SAT-LB088 Assessing Metacarpal Cortical Thickness as a Tool to Evaluate Bone Density Compared to DXA in Osteogenesis Imperfecta

artículo científico publicado en 2019

SUN-205 A Case of 46XY Mixed Gonadal Dysgenesis Presenting with Unilateral Gonad and Hemiuterus: Family History Dictates Sex Assignment.

artículo científico publicado en 2019

Selective Serotonin Reuptake Inhibitors Reduce Longitudinal Growth in Risperidone-Treated Boys

artículo científico publicado en 2018

State of the art review in gonadal dysgenesis: challenges in diagnosis and management

artículo científico publicado en 2014

State of the art review in hypospadias: challenges in diagnosis and medical management.

artículo científico publicado en 2014

Strengths-Based Behavioral Intervention for Parents of Adolescents With Type 1 Diabetes Using an mHealth App (Type 1 Doing Well): Protocol for a Pilot Randomized Controlled Trial (Preprint)

article

Strengths-Based Behavioral Intervention for Parents of Adolescents With Type 1 Diabetes Using an mHealth App (Type 1 Doing Well): Protocol for a Pilot Randomized Controlled Trial.

artículo científico publicado en 2018

Sudden infant death with dysgenesis of the testes syndrome in a non-Amish infant: A case report

scientific article published on 04 September 2020

The gender medicine team: "it takes a village"

article

Type 1 Doing Well: Pilot Feasibility and Acceptability Study of a Strengths-Based mHealth App for Parents of Adolescents with Type 1 Diabetes

scientific article published on 07 May 2020

Variable presentation of precocious puberty associated with the D564G mutation of the LHCGR gene in children with testotoxicosis

artículo científico publicado en 2006

Visual Diagnosis: Multiple Falls and a Pigmented Skin Lesion in a 5-year-old Boy

scientific article published on 01 January 2020

X-linked hypophosphatemic rickets associated with respiratory failure

artículo científico publicado en 2007

von Voss-Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development

artículo científico publicado en 2004

Lista de obras de

A Multicenter Retrospective Review of Pediatric Leydig Cell Tumor of the Testis.

A Multidisciplinary Approach to Puberty and Fertility in Girls with Turner Syndrome

A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature

Activation of cyclic AMP signaling leads to different pathway alterations in lesions of the adrenal cortex caused by germline PRKAR1A defects versus those due to somatic GNAS mutations

Androgen Insensitivity Syndrome: Management Considerations from Infancy to Adulthood.

Assessing sex assignment concordance with genotype and phenotype

Association of immunohistochemical markers with premalignancy in Gonadal Dysgenesis

Autosomal Dominant Pseudohypoaldosteronism Type 1: Mechanisms, Evidence for Neonatal Lethality, and Phenotypic Expression in Adults

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

Bringing Back the Term "Intersex".

Case 2: 3-month-old Boy with Micropenis

Case 2: A 4-year-old Boy with Recurrent Vomiting

Challenges in Prenatal Treatment with Dexamethasone

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.

Consensus in Guidelines for Evaluation of DSD by the Texas Children's Hospital Multidisciplinary Gender Medicine Team ⬇️

Continuous glucose monitoring and the reality of metabolic control in preschool children with type 1 diabetes

Diagnosis and Management of Precocious Puberty in Atypical Presentations of McCune-Albright Syndrome: A Case Series Review ⬇️

Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation ⬇️

Ectopic adrenocorticotropic hormone and corticotropin-releasing hormone co-secreting tumors in children and adolescents causing cushing syndrome: a diagnostic dilemma and how to solve it

Effects of 1,25-dihydroxycholecalciferol on recovery and resolution of late transient neonatal hypocalcemia

Ethical and legal implications of genetic testing in androgen insensitivity syndrome

Evidence-Based Management of Patients with 45,X/46,XY Gonadal Dysgenesis and Male Sex Assignment: from Infancy to Adulthood

FSH Injections and Ultrasonography Determine Presence of Ovarian Components in the Evaluation of Ovotesticular Disorders of Sex Development

Guidelines for evaluating and managing children born with disorders of sexual development

Hormones and their Structural and Functional Effects on the Brain: How Can We Change our Practice Moving Forward?

Insulin pump therapy in preschool children with type 1 diabetes mellitus improves glycemic control and decreases glucose excursions and the risk of hypoglycemia.

Intrauterine growth restriction and hypospadias: is there a connection?

It's X-Related: Biological Bases of Increased COVID-19 Morbidity and Mortality in Men

McCune-Albright Syndrome With Unremitting Hyperthyroidism at Early Age: Management Perspective for Early Thyroidectomy

Neonatal diabetes mellitus: patient reports and review of current knowledge and clinical practice.

Neurocognitive profile of a young adolescent with DK phocomelia/von Voss phocomelia/von Voss Cherstvoy syndrome.

Nonclassical congenital adrenal hyperplasia: targets of treatment and transition

One is the loneliest number: genotypic matchmaking using the electronic health record

Osteopenic effects of MgSO4 in multiple pregnancies

Paternalism in DSD Management: A Real and Present Threat

Patients' and Caregivers' Attitudes toward 'Disorders of Sex Development' Nomenclature

Persistent Diabetes Mellitus Postadrenalectomy in Neonatal McCune-Albright Syndrome

Pituitary and systemic autoimmunity in a case of intrasellar germinoma

Rapid resolution of consumptive hypothyroidism in a child with hepatic hemangioendothelioma following liver transplantation.

Residual manifestations of hypercortisolemia following surgical treatment in a patient with Cushing syndrome

Review of the phenotypic spectrum associated with haploinsufficiency of MYRF

SAT-LB088 Assessing Metacarpal Cortical Thickness as a Tool to Evaluate Bone Density Compared to DXA in Osteogenesis Imperfecta

SUN-205 A Case of 46XY Mixed Gonadal Dysgenesis Presenting with Unilateral Gonad and Hemiuterus: Family History Dictates Sex Assignment.

Selective Serotonin Reuptake Inhibitors Reduce Longitudinal Growth in Risperidone-Treated Boys

State of the art review in gonadal dysgenesis: challenges in diagnosis and management

State of the art review in hypospadias: challenges in diagnosis and medical management.

Strengths-Based Behavioral Intervention for Parents of Adolescents With Type 1 Diabetes Using an mHealth App (Type 1 Doing Well): Protocol for a Pilot Randomized Controlled Trial (Preprint)

Strengths-Based Behavioral Intervention for Parents of Adolescents With Type 1 Diabetes Using an mHealth App (Type 1 Doing Well): Protocol for a Pilot Randomized Controlled Trial.

Sudden infant death with dysgenesis of the testes syndrome in a non-Amish infant: A case report

The gender medicine team: "it takes a village"

Type 1 Doing Well: Pilot Feasibility and Acceptability Study of a Strengths-Based mHealth App for Parents of Adolescents with Type 1 Diabetes

Variable presentation of precocious puberty associated with the D564G mutation of the LHCGR gene in children with testotoxicosis

Visual Diagnosis: Multiple Falls and a Pigmented Skin Lesion in a 5-year-old Boy

X-linked hypophosphatemic rickets associated with respiratory failure

von Voss-Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development