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Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype

The journal of clinical endocrinology and metabolism, 2020-04, Vol.105 (4), p.e1272-e1290

2020

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Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype

PloS one, 2015-11, Vol.10 (11), p.e0142831-e0142831

2015

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Social Economic Costs of Type 1 Diabetes Mellitus in Pediatric patients in Spain: CHRYSTAL Observational Study

Diabetes research and clinical practice, 2017-05, Vol.127, p.59-69

2017

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The role of ZFP57 and additional KRAB-zinc finger proteins in the maintenance of human imprinted methylation and multi-locus imprinting disturbances

Nucleic acids research, 2020-11, Vol.48 (20), p.11394

2020

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The views of teenagers with obesity, their caregivers, and doctors: a plain language summary of the ACTION Teens global survey

Journal of comparative effectiveness research, 2023-01, Vol.12 (1), p.e220164-e220164

2023

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CDKN1C (p57Kip2) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms

American journal of medical genetics. Part A, 2010-06, Vol.152A (6), p.1390-1397

2010

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Misalignment among adolescents living with obesity, caregivers, and healthcare professionals: ACTION Teens global survey study

Pediatric obesity, 2022-11, Vol.17 (11), p.e12957-n/a

2022

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Improvement in Growth after Two Years of Growth Hormone Therapy in Very Young Children Born Small for Gestational Age and without Spontaneous Catch-Up Growth: Results of a Multicenter, Controlled, Randomized, Open Clinical Trial

The journal of clinical endocrinology and metabolism, 2007-08, Vol.92 (8), p.3095-3101

2007

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Proposed guidelines in the neonatal screening for congenital hypothyroidism in large premature newborns

Anales de Pediatría, 2020-01, Vol.92 (1), p.46-47

2020

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Factors influencing height gain in children born small for gestational age treated with recombinant growth hormone: what extent is puberty involved?

Therapeutic advances in endocrinology and metabolism, 2022-04, Vol.13, p.20420188221083534-20420188221083534

2022

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Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment

Journal of clinical medicine, 2023-07, Vol.12 (15), p.5003

2023

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Monitoring of the treatment of hypogonadotropic hypogonadism in the infant

Anales de Pediatría, 2019-03, Vol.90 (3), p.190-192

2019

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Pediatric Type 1 Diabetes: Is Age at Onset a Determining Factor in Advanced Hybrid Closed-Loop Insulin Therapy?

Journal of clinical medicine, 2023-11, Vol.12 (21), p.6951

2023

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Ten years' clinical experience with biosimilar human growth hormone: a review of efficacy data

Drug design, development and therapy, 2017-01, Vol.11, p.1489-1495

2017

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Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

Nature genetics, 2007-01, Vol.39 (1), p.75-79

2007

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Letter to the Editor From Arroyo et al: “Timing of Puberty, Pubertal Growth, and Adult Height in Short Children Born Small for Gestational Age Treated With Growth Hormone”

The journal of clinical endocrinology and metabolism, 2023-09, Vol.108 (10), p.e1157-e1158

2023

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Evidence for Genetic Heterogeneity of Pseudohypoaldosteronism Type 1: Identification of a Novel Mutation in the Human Mineralocorticoid Receptor in one Sporadic Case and No Mutations in Two Autosomal Dominant Kindreds

The journal of clinical endocrinology and metabolism, 2001-05, Vol.86 (5), p.2056-2059

2001

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Propuesta de pauta en el cribado neonatal de hipotiroidismo congénito en grandes prematuros

Anales de pediatría (Barcelona, Spain : 2003), 2020, Vol.92 (1), p.46-47

2020

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Monitorización del tratamiento del hipogonadismo hipogonadotropo en el lactante

Anales de pediatría (Barcelona, Spain : 2003), 2019-03, Vol.90 (3), p.190-192

2019

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Study of the quality of life and adherence to treatment in patients from 2 to 16 years-old with type 1 diabetes mellitus in Andalusia, Spain

Anales de Pediatría, 2021-02, Vol.94 (2), p.75-81

2021

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A Novel Dysfunctional Growth Hormone Variant (Ile179Met) Exhibits a Decreased Ability to Activate the Extracellular Signal-Regulated Kinase Pathway

The journal of clinical endocrinology and metabolism, 2004-03, Vol.89 (3), p.1068-1075

2004

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Eficacia y seguridad del tratamiento sustitutivo en el déficit aislado de hormona del crecimiento

Anales de pediatría (Barcelona, Spain : 2003), 2019-05, Vol.90 (5), p.285-292

2019

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The situation as regards diabetes mellitus type 1 in Andalusia. Care data, use of advanced therapies and human resources

Anales de Pediatría, 2018-08, Vol.89 (2), p.111-116

2018

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Differences between patients with isolated GH deficiency based on findings in brain magnetic resonance imaging

Endocrinologia, diabetes y nutricion, 2020-02, Vol.67 (2), p.78-88

2020

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Guía clínica de atención a menores transexuales, transgéneros y de género diverso

Anales de pediatría (Barcelona, Spain : 2003), 2022-04, Vol.96 (4), p.349.e1-349.e11

2022

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Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype

Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype

Social Economic Costs of Type 1 Diabetes Mellitus in Pediatric patients in Spain: CHRYSTAL Observational Study

The role of ZFP57 and additional KRAB-zinc finger proteins in the maintenance of human imprinted methylation and multi-locus imprinting disturbances

The views of teenagers with obesity, their caregivers, and doctors: a plain language summary of the ACTION Teens global survey

CDKN1C (p57Kip2) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms

Misalignment among adolescents living with obesity, caregivers, and healthcare professionals: ACTION Teens global survey study

Improvement in Growth after Two Years of Growth Hormone Therapy in Very Young Children Born Small for Gestational Age and without Spontaneous Catch-Up Growth: Results of a Multicenter, Controlled, Randomized, Open Clinical Trial

Proposed guidelines in the neonatal screening for congenital hypothyroidism in large premature newborns

Factors influencing height gain in children born small for gestational age treated with recombinant growth hormone: what extent is puberty involved?

Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment

Monitoring of the treatment of hypogonadotropic hypogonadism in the infant

Pediatric Type 1 Diabetes: Is Age at Onset a Determining Factor in Advanced Hybrid Closed-Loop Insulin Therapy?

Ten years' clinical experience with biosimilar human growth hormone: a review of efficacy data

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

Letter to the Editor From Arroyo et al: “Timing of Puberty, Pubertal Growth, and Adult Height in Short Children Born Small for Gestational Age Treated With Growth Hormone”

Evidence for Genetic Heterogeneity of Pseudohypoaldosteronism Type 1: Identification of a Novel Mutation in the Human Mineralocorticoid Receptor in one Sporadic Case and No Mutations in Two Autosomal Dominant Kindreds

Propuesta de pauta en el cribado neonatal de hipotiroidismo congénito en grandes prematuros

Monitorización del tratamiento del hipogonadismo hipogonadotropo en el lactante

Study of the quality of life and adherence to treatment in patients from 2 to 16 years-old with type 1 diabetes mellitus in Andalusia, Spain

A Novel Dysfunctional Growth Hormone Variant (Ile179Met) Exhibits a Decreased Ability to Activate the Extracellular Signal-Regulated Kinase Pathway

Eficacia y seguridad del tratamiento sustitutivo en el déficit aislado de hormona del crecimiento

The situation as regards diabetes mellitus type 1 in Andalusia. Care data, use of advanced therapies and human resources

Differences between patients with isolated GH deficiency based on findings in brain magnetic resonance imaging

Guía clínica de atención a menores transexuales, transgéneros y de género diverso

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