Lista de obras -

A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry

artículo científico publicado en 2017

A simple method based on confocal microscopy and thick sections recognizes seven subphases in growth plate chondrocytes

artículo científico publicado en 2020

Administration of ghrelin to young uraemic rats increases food intake transiently, stimulates growth hormone secretion and does not improve longitudinal growth

artículo científico publicado en 2007

Alterations of growth plate and abnormal insulin-like growth factor I metabolism in growth-retarded hypokalemic rats: effect of growth hormone treatment

artículo científico publicado en 2009

Animal models of pediatric chronic kidney disease. Is adenine intake an appropriate model?

artículo científico publicado en 2015

Chronic kidney disease induced by adenine: a suitable model of growth retardation in uremia

artículo científico publicado en 2015

Clinical and laboratory approaches in the diagnosis of renal tubular acidosis

artículo científico

Differential methylation of lncRNA KCNQ1OT1 promoter polymorphism was associated with symptomatic cardiac long QT.

artículo científico publicado en 2017

Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations

artículo científico publicado en 2018

Effects of growth hormone treatment on growth plate, bone, and mineral metabolism of young rats with uremia induced by adenine

artículo científico publicado en 2017

Effects of growth hormone treatment on growth plate, bone, and mineral metabolism of young rats with uremia induced by adenine

scientific article published on 01 November 2017

Genetic Variation in the H19-IGF2 Cluster Might Confer Risk of Developing Impaired Renal Function

artículo científico publicado en 2018

Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report

artículo científico publicado en 2010

Gitelman syndrome in Gypsy paediatric patients carrying the same intron 9 + 1 G>T mutation. Clinical features and impact on quality of life

artículo científico publicado en 2010

Growth cartilage expression of growth hormone/insulin-like growth factor I axis in spontaneous and growth hormone induced catch-up growth

artículo científico publicado en 2012

Growth hormone improves growth retardation induced by rapamycin without blocking its antiproliferative and antiangiogenic effects on rat growth plate

artículo científico publicado en 2012

Hereditary Distal Renal Tubular Acidosis

artículo científico publicado en 2019

Hypophosphatemia and growth

artículo científico publicado en 2012

Implementation of an automated method for direct quantification of urinary ammonium

scientific article published on 01 July 2019

Incomplete distal renal tubular acidosis in children

scientific article published on 25 March 2020

Innovative Three-Dimensional Microscopic Analysis of Uremic Growth Plate Discloses Alterations in the Process of Chondrocyte Hypertrophy: Effects of Growth Hormone Treatment

artículo científico publicado en 2020

KCNQ1 gene variants in the risk for type 2 diabetes and impaired renal function in the Spanish Renastur cohort

artículo científico publicado en 2016

Longitudinal growth in chronic hypokalemic disorders

artículo científico publicado en 2009

MAPK inhibition and growth hormone: a promising therapy in XLH

scientific article published on 11 April 2019

Marked alterations in the structure, dynamics and maturation of growth plate likely explain growth retardation and bone deformities of young Hyp mice

artículo científico publicado en 2018

Outcome of primary tubular tubulopathies diagnosed in pediatric age

artículo científico publicado en 2020

Phenotyping and relative quantification of vitamin D binding protein in a paediatric population by using liquid chromatography-tandem mass spectrometry

scientific article published on 17 June 2018

Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing

artículo científico publicado en 2017

Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing

artículo científico publicado en 2015

Rapamycin induces growth retardation by disrupting angiogenesis in the growth plate

artículo científico publicado en 2010

Renal tubular acidosis

artículo científico publicado en 2013

Renal tubular acidosis

scientific article published on 01 April 2017

Risk of cardiovascular involvement in pediatric patients with X-linked hypophosphatemia

artículo científico publicado en 2019

Salt-losing tubulopathy and chronic dermatitis

artículo científico publicado en 2018

The Interferon-induced transmembrane protein 3 gene (IFITM3) rs12252 C variant is associated with COVID-19

artículo científico publicado en 2020

Treatment and long-term outcome in primary distal renal tubular acidosis

scientific article published on 01 June 2019

Urinary ammonium: paediatric reference values

scientific article published on 18 August 2020

Variant-genetic and transcript-expression analysis showed a role for the chemokine-receptor CCR5 in COVID-19 severity

scholarly article by Helena Gil-Peña published in 2021

[X-linked hypophosphatemic rickets due to mutations in PHEX: Clinical and evolutionary variability]

artículo científico publicado en 2016

Lista de obras de

A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry

A simple method based on confocal microscopy and thick sections recognizes seven subphases in growth plate chondrocytes

Administration of ghrelin to young uraemic rats increases food intake transiently, stimulates growth hormone secretion and does not improve longitudinal growth

Alterations of growth plate and abnormal insulin-like growth factor I metabolism in growth-retarded hypokalemic rats: effect of growth hormone treatment

Animal models of pediatric chronic kidney disease. Is adenine intake an appropriate model?

Chronic kidney disease induced by adenine: a suitable model of growth retardation in uremia

Clinical and laboratory approaches in the diagnosis of renal tubular acidosis

Differential methylation of lncRNA KCNQ1OT1 promoter polymorphism was associated with symptomatic cardiac long QT.

Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations

Effects of growth hormone treatment on growth plate, bone, and mineral metabolism of young rats with uremia induced by adenine

Effects of growth hormone treatment on growth plate, bone, and mineral metabolism of young rats with uremia induced by adenine

Genetic Variation in the H19-IGF2 Cluster Might Confer Risk of Developing Impaired Renal Function

Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report

Gitelman syndrome in Gypsy paediatric patients carrying the same intron 9 + 1 G>T mutation. Clinical features and impact on quality of life

Growth cartilage expression of growth hormone/insulin-like growth factor I axis in spontaneous and growth hormone induced catch-up growth

Growth hormone improves growth retardation induced by rapamycin without blocking its antiproliferative and antiangiogenic effects on rat growth plate

Hereditary Distal Renal Tubular Acidosis

Hypophosphatemia and growth

Implementation of an automated method for direct quantification of urinary ammonium

Incomplete distal renal tubular acidosis in children

Innovative Three-Dimensional Microscopic Analysis of Uremic Growth Plate Discloses Alterations in the Process of Chondrocyte Hypertrophy: Effects of Growth Hormone Treatment

KCNQ1 gene variants in the risk for type 2 diabetes and impaired renal function in the Spanish Renastur cohort

Longitudinal growth in chronic hypokalemic disorders

MAPK inhibition and growth hormone: a promising therapy in XLH

Marked alterations in the structure, dynamics and maturation of growth plate likely explain growth retardation and bone deformities of young Hyp mice

Outcome of primary tubular tubulopathies diagnosed in pediatric age

Phenotyping and relative quantification of vitamin D binding protein in a paediatric population by using liquid chromatography-tandem mass spectrometry

Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing

Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing

Rapamycin induces growth retardation by disrupting angiogenesis in the growth plate

Renal tubular acidosis

Renal tubular acidosis

Risk of cardiovascular involvement in pediatric patients with X-linked hypophosphatemia

Salt-losing tubulopathy and chronic dermatitis

The Interferon-induced transmembrane protein 3 gene (IFITM3) rs12252 C variant is associated with COVID-19

Treatment and long-term outcome in primary distal renal tubular acidosis

Urinary ammonium: paediatric reference values

Variant-genetic and transcript-expression analysis showed a role for the chemokine-receptor CCR5 in COVID-19 severity

[X-linked hypophosphatemic rickets due to mutations in PHEX: Clinical and evolutionary variability]