Lista de obras - Alessandro Mussa - Dominio Público Uruguay

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome

artículo científico publicado en 2015

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for genomic medicine.

artículo científico

A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.

artículo científico publicado en 2009

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes

artículo científico publicado en 2016

Assessment of central adrenal insufficiency in children and adolescents with Prader-Willi syndrome

artículo científico publicado en 2012

Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome.

artículo científico publicado en 2017

Assisted reproduction techniques and prenatal diagnosis of Beckwith-Wiedemann spectrum presenting with omphalocele

scientific article published on 08 August 2018

Bone alterations in children and young adults with renal transplant assessed by phalangeal quantitative ultrasound

artículo científico publicado en 2007

Bone impairment in phenylketonuria is characterized by circulating osteoclast precursors and activated T cell increase

artículo científico publicado en 2010

Bone quantitative ultrasound in congenital and acquired childhood multiple pituitary failure

artículo científico publicado en 2010

Breastfeeding effects on newborn screening

scientific article published on 24 March 2010

Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol

artículo científico publicado en 2016

Central adrenal insufficiency in young adults with Prader-Willi syndrome

artículo científico publicado en 2013

Chronic subdural hematoma: A previously unreported life-threatening complication in adult with Sotos syndrome

artículo científico publicado en 2020

Combined treatment with bicalutamide and anastrozole in a young boy with peripheral precocious puberty due to McCune-Albright Syndrome

scientific article published on 09 November 2011

Comment on "prenatal diagnosis and prognosis in Noonan syndrome".

artículo científico publicado en 2013

Comparative Evaluation of Therapy with L -Thyroxine versus No Treatment in Children with Idiopathic and Mild Subclinical Hypothyroidism

scientific article published on 12 June 2012

Congenital Hypothyroidism, Cerebellar Atrophy, and the Incomplete Phenotypic Expression of PHACES Syndrome

artículo científico publicado en 2008

Constitutional bone impairment in Noonan syndrome

artículo científico publicado en 2017

Correction: the complex surgical management of the first case of severe combined immunodeficiency and multiple intestinal atresias surviving after the fourth year of life

artículo científico publicado en 2015

Determinants of thyrotropin rise in congenital hypothyroidism

scientific article published on 13 September 2011

Diagnostic features of thyroid nodules in pediatrics.

artículo científico publicado en 2010

Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency

artículo científico publicado en 2009

Dopamine agonists in dihydropteridine reductase deficiency

artículo científico publicado en 2012

Epidemiology, Presentation and Long-Term Evolution of Graves' Disease in Children, Adolescents and Young Adults with Turner Syndrome

scientific article published on 31 January 2014

Erratum to: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.

artículo científico publicado en 2016

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

artículo científico publicado en 2018

Exposure to Gastric Acid Inhibitors Increases the Risk of Infection in Preterm Very Low Birth Weight Infants but Concomitant Administration of Lactoferrin Counteracts This Effect.

artículo científico publicado en 2017

Fetal growth patterns in Beckwith-Wiedemann syndrome.

artículo científico publicado en 2016

Five-year prospective evaluation of thyroid function in girls with subclinical mild hypothyroidism of different etiology

artículo científico publicado en 2015

Four new cases of PHACES syndrome: variable phenotypic expression and endocrine features.

artículo científico publicado en 2008

Fracture odds and body mass index in children

scientific article published on 17 September 2014

Frequency of Hashimoto's thyroiditis antecedents in the history of children and adolescents with graves' disease

artículo científico publicado en 2010

Functional evaluation of natural killer cell cytotoxic activity in NFKB2-mutated patients

artículo científico publicado en 2017

Gastrostomy Intraperitoneal Bumper Migration in a Three-Year-Old Child: A Rare Complication following Gastrostomy Tube Replacement.

artículo científico publicado en 2014

Genealogy of breastfeeding

artículo científico publicado en 2015

Graves disease in children: thyroid-stimulating hormone receptor antibodies as remission markers.

artículo científico publicado en 2014

Graves' disease prevalence in a young population with Turner syndrome

artículo científico publicado en 2009

Iatrogenic acute pancreatitis due to hypercalcemia in a child with pseudohypoparathyroidism

scientific article published on 01 January 2014

Impact of metabolic control on bone quality in phenylketonuria and mild hyperphenylalaninemia

artículo científico publicado en 2011

Impact of neonatal protein metabolism and nutrition on screening for phenylketonuria

artículo científico publicado en 2008

Improved sperm count and motility in young men surgically treated for cryptorchidism in the first year of life

artículo científico publicado en 2013

In response to van Spronsen et al (2009) phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU (J Inherit Metab Dis 32: 27-31).

artículo científico publicado en 2009

Increased spontaneous osteoclastogenesis from peripheral blood mononuclear cells in phenylketonuria

artículo científico publicado en 2008

Interaction between healthcare professionals and parents is a key determinant of parental distress during childhood hospitalisation for respiratory syncytial virus infection (European RSV Outcomes Study [EROS]).

artículo científico publicado en 2018

Later effects of metabolic control in phenylketonuria

artículo científico publicado en 2013

Levothyroxine requirement in congenital hypothyroidism: a 12-year longitudinal study

artículo científico publicado en 2015

Levothyroxine treatment in pediatric benign thyroid nodules.

artículo científico publicado en 2010

Longitudinal Monitoring of Alpha-Fetoprotein by Dried Blood Spot for Hepatoblastoma Screening in Beckwith⁻Wiedemann Syndrome

artículo científico publicado en 2019

Lysosomal enzyme activities in phenylketonuria

artículo científico publicado en 2011

Metabolic syndrome in children with Prader–Willi syndrome: the effect of obesity

artículo científico publicado en 2010

Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith–Wiedemann syndrome

artículo científico publicado en 2011

Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome.

artículo científico

Nomenclature and definition in asymmetric regional body overgrowth.

artículo científico publicado en 2017

Outcomes of Children with Hashitoxicosis

scientific article published on 26 January 2012

Papillary thyroid cancer and autoimmune polyglandular syndrome

artículo científico publicado en 2015

Peculiarities of Graves' disease in children and adolescents with Down's syndrome

artículo científico publicado en 2009

Peculiarities of presentation and evolution over time of Hashimoto's thyroiditis in children and adolescents with Down's syndrome

artículo científico publicado en 2015

Phalangeal quantitative ultrasound in 1,719 children and adolescents with bone disorders

artículo científico publicado en 2011

Phalangeal quantitative ultrasound in children with phenylketonuria: a pilot study

artículo científico publicado en 2008

Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome

scientific article published on 24 July 2019

Phenotypic variability associated with the invariantSHOC2c.4A>G (p.Ser2Gly) missense mutation

scientific article published on 20 October 2014

Phenotyping and treatment of phenylketonuria

artículo científico publicado en 2011

Polyuric-polydipsic syndrome in a pediatric case of non-glucocorticoid remediable familial hyperaldosteronism

artículo científico publicado en 2012

Predictors of Malignancy in Children with Thyroid Nodules.

artículo científico publicado en 2015

Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing

scientific article published on 28 October 2020

Prenatal features of Noonan syndrome: prevalence and prognostic value

artículo científico publicado en 2011

Prevalence of beckwith-wiedemann syndrome in North West of Italy

article

Prospective bone ultrasound patterns during childhood acute lymphoblastic leukemia treatment

artículo científico publicado en 2010

Prospective evaluation of the natural course of idiopathic subclinical hypothyroidism in childhood and adolescence

artículo científico publicado en 2008

Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome

artículo científico publicado en 2015

Remittent hyperammonemia in congenital portosystemic shunt.

artículo científico publicado en 2009

Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply.

artículo científico publicado en 2018

Screening Hepatoblastoma in Beckwith-Wiedemann Syndrome: A Complex Issue

artículo científico publicado en 2015

Serum alpha-fetoprotein screening for hepatoblastoma in Beckwith-Wiedemann syndrome.

artículo científico publicado en 2017

Serum thyrotropin concentration in children with isolated thyroid nodules

artículo científico publicado en 2013

Sperm count of young men surgically treated for cryptorchidism in the first and second year of life: fertility is better in children treated at a younger age.

artículo científico publicado en 2009

Subclinical hyperthyroidism when presenting as initial manifestation of juvenile Hashimoto's thyroiditis: first report on its natural history

artículo científico publicado en 2014

Successful medical treatment for ranula in children

artículo científico publicado en 2012

Surgical enucleation of testicular leydigioma in a young child: case report and literature review ⬇️

artículo científico publicado el 1 de enero de 2011

Syndromic Disorders Caused by Disturbed Human Imprinting

scientific article published on 10 April 2019

Teriparatide (rhPTH) treatment in children with syndromic hypoparathyroidism

artículo científico publicado en 2014

Tetrahydrobiopterin and phenylketonuria

artículo científico publicado en 2011

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases

artículo científico publicado en 2011

The association with Turner syndrome significantly affects the course of Hashimoto’s thyroiditis in children, irrespective of karyotype

The complex surgical management of the first case of severe combined immunodeficiency and multiple intestinal atresias surviving after the fourth year of life.

artículo científico publicado en 2014

The effectiveness of Wilms tumor screening in Beckwith-Wiedemann spectrum

scientific article published on 04 October 2019

The natural history of the normal/mild elevated TSH serum levels in children and adolescents with Hashimoto's thyroiditis and isolated hyperthyrotropinaemia: a 3-year follow-up

scientific article published on 01 March 2012

The overlap between Sotos and Beckwith-Wiedemann syndromes

artículo científico publicado en 2010

Thyroid Function Patterns at Hashimoto s Thyroiditis Presentation in Childhood and Adolescence Are Mainly Conditioned by Patients Age

artículo científico publicado en 2012

Thyroid involvement in two patients with Bannayan-Riley-Ruvalcaba syndrome.

artículo científico publicado en 2013

Thyroid nodules and cancer in children and adolescents affected by autoimmune thyroiditis

artículo científico publicado en 2008

Thyroid nodules in pediatrics: which ones can be left alone, which ones must be investigated, when and how

artículo científico publicado en 2013

Underlying Hashimoto's Thyroiditis Negatively Affects the Evolution of Subclinical Hypothyroidism in Children Irrespective of Other Concomitant Risk Factors

scientific article published on 02 December 2014

Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency

artículo científico publicado en 2009

α-Fetoprotein assay on dried blood spot for hepatoblastoma screening in children with overgrowth-cancer predisposition syndromes

artículo científico publicado en 2014

Lista de obras de Alessandro Mussa

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for genomic medicine.

A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes

Assessment of central adrenal insufficiency in children and adolescents with Prader-Willi syndrome

Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome.

Assisted reproduction techniques and prenatal diagnosis of Beckwith-Wiedemann spectrum presenting with omphalocele

Bone alterations in children and young adults with renal transplant assessed by phalangeal quantitative ultrasound

Bone impairment in phenylketonuria is characterized by circulating osteoclast precursors and activated T cell increase

Bone quantitative ultrasound in congenital and acquired childhood multiple pituitary failure

Breastfeeding effects on newborn screening

Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol

Central adrenal insufficiency in young adults with Prader-Willi syndrome

Chronic subdural hematoma: A previously unreported life-threatening complication in adult with Sotos syndrome

Combined treatment with bicalutamide and anastrozole in a young boy with peripheral precocious puberty due to McCune-Albright Syndrome

Comment on "prenatal diagnosis and prognosis in Noonan syndrome".

Comparative Evaluation of Therapy with L -Thyroxine versus No Treatment in Children with Idiopathic and Mild Subclinical Hypothyroidism

Congenital Hypothyroidism, Cerebellar Atrophy, and the Incomplete Phenotypic Expression of PHACES Syndrome

Constitutional bone impairment in Noonan syndrome

Correction: the complex surgical management of the first case of severe combined immunodeficiency and multiple intestinal atresias surviving after the fourth year of life

Determinants of thyrotropin rise in congenital hypothyroidism

Diagnostic features of thyroid nodules in pediatrics.

Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency

Dopamine agonists in dihydropteridine reductase deficiency

Epidemiology, Presentation and Long-Term Evolution of Graves' Disease in Children, Adolescents and Young Adults with Turner Syndrome

Erratum to: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

Exposure to Gastric Acid Inhibitors Increases the Risk of Infection in Preterm Very Low Birth Weight Infants but Concomitant Administration of Lactoferrin Counteracts This Effect.

Fetal growth patterns in Beckwith-Wiedemann syndrome.

Five-year prospective evaluation of thyroid function in girls with subclinical mild hypothyroidism of different etiology

Four new cases of PHACES syndrome: variable phenotypic expression and endocrine features.

Fracture odds and body mass index in children

Frequency of Hashimoto's thyroiditis antecedents in the history of children and adolescents with graves' disease

Functional evaluation of natural killer cell cytotoxic activity in NFKB2-mutated patients

Gastrostomy Intraperitoneal Bumper Migration in a Three-Year-Old Child: A Rare Complication following Gastrostomy Tube Replacement.

Genealogy of breastfeeding

Graves disease in children: thyroid-stimulating hormone receptor antibodies as remission markers.

Graves' disease prevalence in a young population with Turner syndrome

Iatrogenic acute pancreatitis due to hypercalcemia in a child with pseudohypoparathyroidism

Impact of metabolic control on bone quality in phenylketonuria and mild hyperphenylalaninemia

Impact of neonatal protein metabolism and nutrition on screening for phenylketonuria

Improved sperm count and motility in young men surgically treated for cryptorchidism in the first year of life

In response to van Spronsen et al (2009) phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU (J Inherit Metab Dis 32: 27-31).

Increased spontaneous osteoclastogenesis from peripheral blood mononuclear cells in phenylketonuria

Interaction between healthcare professionals and parents is a key determinant of parental distress during childhood hospitalisation for respiratory syncytial virus infection (European RSV Outcomes Study [EROS]).

Later effects of metabolic control in phenylketonuria

Levothyroxine requirement in congenital hypothyroidism: a 12-year longitudinal study

Levothyroxine treatment in pediatric benign thyroid nodules.

Longitudinal Monitoring of Alpha-Fetoprotein by Dried Blood Spot for Hepatoblastoma Screening in Beckwith⁻Wiedemann Syndrome

Lysosomal enzyme activities in phenylketonuria

Metabolic syndrome in children with Prader–Willi syndrome: the effect of obesity

Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith–Wiedemann syndrome

Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome.

Nomenclature and definition in asymmetric regional body overgrowth.

Outcomes of Children with Hashitoxicosis

Papillary thyroid cancer and autoimmune polyglandular syndrome

Peculiarities of Graves' disease in children and adolescents with Down's syndrome

Peculiarities of presentation and evolution over time of Hashimoto's thyroiditis in children and adolescents with Down's syndrome

Phalangeal quantitative ultrasound in 1,719 children and adolescents with bone disorders

Phalangeal quantitative ultrasound in children with phenylketonuria: a pilot study

Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome

Phenotypic variability associated with the invariantSHOC2c.4A>G (p.Ser2Gly) missense mutation

Phenotyping and treatment of phenylketonuria

Polyuric-polydipsic syndrome in a pediatric case of non-glucocorticoid remediable familial hyperaldosteronism

Predictors of Malignancy in Children with Thyroid Nodules.

Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing

Prenatal features of Noonan syndrome: prevalence and prognostic value

Prevalence of beckwith-wiedemann syndrome in North West of Italy

Prospective bone ultrasound patterns during childhood acute lymphoblastic leukemia treatment

Prospective evaluation of the natural course of idiopathic subclinical hypothyroidism in childhood and adolescence

Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome

Remittent hyperammonemia in congenital portosystemic shunt.

Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply.

Screening Hepatoblastoma in Beckwith-Wiedemann Syndrome: A Complex Issue

Serum alpha-fetoprotein screening for hepatoblastoma in Beckwith-Wiedemann syndrome.

Serum thyrotropin concentration in children with isolated thyroid nodules

Sperm count of young men surgically treated for cryptorchidism in the first and second year of life: fertility is better in children treated at a younger age.

Subclinical hyperthyroidism when presenting as initial manifestation of juvenile Hashimoto's thyroiditis: first report on its natural history

Successful medical treatment for ranula in children