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List of works by Helena Gil-Peña

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

scientific article published on 18 March 2017

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

scientific article published on 24 April 2020

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

scientific article published on 22 February 2007

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

scientific article published on 8 July 2009

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

scientific article published on 29 October 2015

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

scientific article published on 13 May 2015

Clinical and laboratory approaches in the diagnosis of renal tubular acidosis

scientific article published on April 2015

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

scientific article published on 27 July 2017

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

scientific article published on 03 May 2018

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

scientific article

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

scientific article published on 11 June 2018

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

scientific article

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

scientific article published on 22 June 2010

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

scientific article published on 14 May 2012

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

scientific article

Hereditary Distal Renal Tubular Acidosis

scientific article published on 11 October 2019

Hypophosphatemia and growth

scientific article

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

scientific article published on 25 June 2020

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

scientific article published on 9 March 2016

Longitudinal growth in chronic hypokalemic disorders

scientific article

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

scientific article published on 08 August 2018

Outcome of primary tubular tubulopathies diagnosed in pediatric age

scientific article published on 21 December 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

scientific article published in November 2017

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

scientific article published on 16 November 2015

Rapamycin induces growth retardation by disrupting angiogenesis in the growth plate

scientific article published on 16 June 2010

Renal tubular acidosis

scientific article published on 15 December 2013

Renal tubular acidosis

scientific article published on 01 April 2017

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

scientific article published on 04 January 2019

Salt-losing tubulopathy and chronic dermatitis

scientific article published on 01 August 2018

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

scientific article published on 23 October 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]

scientific article published on 21 May 2016

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