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Lista de obras de Andrew A Dwyer

A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay

scientific article published on 31 March 2019

Abrupt decrease in serum testosterone levels after an oral glucose load in men: implications for screening for hypogonadism

artículo científico publicado en 2013

Absence of central circadian pacemaker abnormalities in humans with loss of function mutation in prokineticin 2

artículo científico publicado en 2014

Acceptance of the Advanced Practice Nurse in Lung Cancer Role by Healthcare Professionals and Patients: A Qualitative Exploration

article

Accuracy, satisfaction and usability of a flash glucose monitoring system among children and adolescents with type 1 diabetes attending a summer camp

scientific article published on 31 July 2018

Acute sex steroid withdrawal reduces insulin sensitivity in healthy men with idiopathic hypogonadotropic hypogonadism

artículo científico publicado en 2007

Acute stress masking the biochemical phenotype of partial androgen insensitivity syndrome in a patient with a novel mutation in the androgen receptor.

artículo científico publicado en 2004

Adherence to treatment in men with hypogonadotrophic hypogonadism

artículo científico publicado en 2016

An ancient founder mutation in PROKR2 impairs human reproduction

artículo científico publicado en 2012

Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination

artículo científico publicado en 2013

Beyond hormone replacement: quality of life in women with congenital hypogonadotropic hypogonadism

artículo científico

Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism

artículo científico publicado en 2006

Comment on reversal of hypogonadotropic hypogonadism in a Chinese cohort.

artículo científico publicado en 2015

Comparative functional analysis of two fibroblast growth factor receptor 1 (FGFR1) mutations affecting the same residue (R254W and R254Q) in isolated hypogonadotropic hypogonadism (IHH).

artículo científico publicado en 2012

Congenital Hypogonadotropic Hypogonadism and Constitutional Delay of Growth and Puberty Have Distinct Genetic Architectures

artículo científico publicado en 2018

Congenital hypogonadotropic hypogonadism with anosmia and Gorlin features caused by a PTCH1 mutation reveals a new candidate gene for Kallmann syndrome

artículo científico publicado en 2020

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.

artículo científico publicado en 2014

Congenital hypogonadotropic hypogonadism/Kallmann syndrome is associated with statural gain in both men and women: a monocentric study

scientific article published on 01 February 2020

Congenital hypogonadotropic hypogonadism: implications of absent mini-puberty

artículo científico publicado en 2016

Congenital idiopathic hypogonadotropic hypogonadism: evidence of defects in the hypothalamus, pituitary, and testes

artículo científico publicado en 2010

Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice

artículo científico publicado en 2008

Developing a rare disease chronic care model: Management of systemic sclerosis (MANOSS) study protocol

scientific article published on 13 September 2019

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

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

artículo científico publicado en 2007

Effectiveness of nursing discharge planning interventions on health-related outcomes in discharged elderly inpatients: a systematic review.

artículo científico publicado en 2016

Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants

artículo científico publicado en 2017

Evaluating co-created patient-facing materials to increase understanding of genetic test results

artículo científico publicado en 2020

Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment

artículo científico publicado en 2015

Feasibility of advanced practice nursing in lung cancer consultations during early treatment: A phase II study

artículo científico

Fertility induction in hypogonadotropic hypogonadal men

scientific article published on 09 October 2018

Frequency of Impaired Fibroblast Growth Factor Receptor 1 Signaling as a Cause of Normosmic Idiopathic Hypogonadotropic Hypogonadism.

artículo científico publicado en 2009

Functional Hypogonadotropic Hypogonadism in Men: Underlying Neuroendocrine Mechanisms and Natural History

artículo científico publicado en 2019

GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing.

artículo científico publicado en 2018

Genetic Competencies for Effective Pediatric Endocrine Nursing Practice

artículo científico publicado en 2019

Genetic basis and variable phenotypic expression of Kallmann syndrome: towards a unifying theory.

artículo científico publicado en 2011

Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia

artículo científico publicado en 2012

Genetic testing facilitates prepubertal diagnosis of congenital hypogonadotropic hypogonadism.

artículo científico publicado en 2017

GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1.

artículo científico publicado en 2011

Gonadotrophin replacement for induction of fertility in hypogonadal men.

artículo científico publicado en 2014

Hormonal control of spermatogenesis in men: therapeutic aspects in hypogonadotropic hypogonadism.

artículo científico

Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons

artículo científico publicado en 2010

Identifying the unmet health needs of patients with congenital hypogonadotropic hypogonadism using a web-based needs assessment: implications for online interventions and peer-to-peer support

artículo científico publicado en 2014

Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism

scientific article published on 09 October 2009

Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose

artículo científico publicado en 2020

International practice settings, interventions and outcomes of nurse practitioners in geriatric care: A scoping review.

artículo científico publicado en 2017

KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism

artículo científico publicado en 2017

MANAGEMENT OF ENDOCRINE DISEASE: Reversible hypogonadotropic hypogonadism

artículo científico publicado en 2016

Meta-analysis of the effectiveness of nursing discharge planning interventions for older inpatients discharged home

artículo científico publicado en 2017

Minipuberty: A Primer for Pediatric Nurses

artículo científico publicado en 2019

Multidisciplinary management of diabetic kidney disease: a systematic review and meta-analysis

artículo científico publicado en 2016

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism

artículo científico publicado en 2013

Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes

artículo científico publicado en 2006

Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism

artículo científico publicado en 2006

Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.

artículo científico publicado en 2008

Natural history of growth hormone deficiency in a pediatric cohort

scientific article published on 11 February 2015

Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism

artículo científico publicado en 2019

Non-invasive assessment of coronary endothelial function in children and adolescents with type 1 diabetes mellitus using isometric handgrip exercise-MRI: A feasibility study

artículo científico publicado en 2020

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

artículo científico publicado en 2010

PENS Position Statement on Bullying Prevention

artículo científico publicado en 2018

Parent of Origin Effects on Family Communication of Risk in BRCA+ Women: A Qualitative Investigation of Human Factors in Cascade Screening

artículo científico publicado en 2020

Parent of origin differences in psychosocial burden and approach to BRCA risk management

scientific article published on 28 October 2019

Patient Perspectives on Nurse-led Consultations Within a Pilot Structured Transition Program for Young Adults Moving From an Academic Tertiary Setting to Community-based Type 1 Diabetes Care

artículo científico publicado en 2017

Patient perceptions of peripheral artery disease: A cross-sectional study of hospitalized adults

scientific article published on 14 May 2019

Patients with variations of sex development : an example of interdisciplinary care

artículo científico publicado en 2016

Predictors of outcome of long-term GnRH therapy in men with idiopathic hypogonadotropic hypogonadism.

artículo científico publicado en 2002

Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes

artículo científico publicado el 26 de marzo de 2013

Psychological Aspects of Congenital Hypogonadotropic Hypogonadism

artículo científico publicado en 2019

Psychosexual development in men with congenital hypogonadotropic hypogonadism on long-term treatment: a mixed methods study

artículo científico publicado en 2015

Reproductive phenotypes and genotypes in men with IHH

artículo científico publicado en 2022

Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system.

artículo científico publicado en 2013

Reversal of idiopathic hypogonadotropic hypogonadism

article

Role of fibroblast growth factor (FGF) signaling in the neuroendocrine control of human reproduction

artículo científico publicado el 22 de octubre de 2011

Role of seminiferous tubular development in determining the FSH versus LH responsiveness to GnRH in early sexual maturation

artículo científico publicado en 2009

Skeletal muscle mitochondria in the elderly: effects of physical fitness and exercise training.

artículo científico publicado en 2014

Society for Endocrinology UK guidance on the evaluation of suspected disorders of sexual development: emphasizing the opportunity to predict adolescent pubertal failure through a neonatal diagnosis of absent minipuberty

artículo científico publicado en 2016

Symptom perception in heart failure - Interventions and outcomes: A scoping review

artículo científico publicado en 2020

Symptom perception in heart failure: a scoping review on definition, factors and instruments

scientific article published on 29 November 2019

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

artículo científico publicado en 2010

TRANSITION IN ENDOCRINOLOGY: Hypogonadism in adolescence

artículo científico publicado en 2015

Testis morphology in patients with idiopathic hypogonadotropic hypogonadism

artículo científico publicado en 2006

Testosterone Restoration by Enclomiphene Citrate in Men with Secondary Hypogonadism: Pharmacodynamics and Pharmacokinetics

artículo científico publicado en 2013

The Metabolic Syndrome in Central Hypogonadotrophic Hypogonadism

artículo científico publicado en 2018

The lack of effect of insulin on luteinizing hormone pulsatility in healthy male volunteers provides evidence of a sexual dimorphism in the metabolic regulation of reproductive hormones.

artículo científico publicado en 2012

The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations

artículo científico publicado en 2011

Thigh and abdominal adipose tissue depot associations with testosterone levels in postmenopausal females

artículo científico publicado en 2019

Transition of Care from Childhood to Adulthood: Congenital Hypogonadotropic Hypogonadism

artículo científico publicado en 2018

Trial of recombinant follicle-stimulating hormone pretreatment for GnRH-induced fertility in patients with congenital hypogonadotropic hypogonadism

artículo científico publicado en 2013

[Caring for patients with pediatric endocrinopathies and diabetes into adulthood: challenges of an often difficult transition]

artículo científico publicado en 2012

[Transition in diabetology]

β-Klotho deficiency protects against obesity through a crosstalk between liver, microbiota, and brown adipose tissue.

artículo científico publicado en 2017