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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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Glucose and galactose malabsorption: A new case in Spain

Anales de Pediatría, 2020-02, Vol.92 (2), p.104-105

2020

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The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network

The journal of clinical endocrinology and metabolism, 2016-10, Vol.101 (10), p.3657-3668

2016

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Malabsorción de glucosa y galactosa. Nuevo caso en España

Anales de pediatría (Barcelona, Spain : 2003), 2020-02, Vol.92 (2), p.104-105

2020

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Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

Clinical epigenetics, 2015-11, Vol.7 (123), p.123-123, Article 123

2015

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GATA4 Mutations Are a Cause of Neonatal and Childhood-Onset Diabetes

Diabetes (New York, N.Y.), 2014-08, Vol.63 (8), p.2888-2894

2014

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Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early‐Onset Obesity

Journal of bone and mineral research, 2018-08, Vol.33 (8), p.1480-1488

2018

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Brachydactyly type C due to a nonsense mutation in the GDF5 gene

Anales de Pediatría, 2018-02, Vol.88 (2), p.107-109

2018

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Choosing the Best Tissue and Technique to Detect Mosaicism in Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS)

Genes, 2024-01, Vol.15 (1), p.120

2024

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New pathogenic variant in DLX5 : New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly

Frontiers in genetics, 2023-04, Vol.14, p.1165780-1165780

2023

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Novel Variant in PLAG1 in a Familial Case with Silver-Russell Syndrome Suspicion

Genes, 2020-12, Vol.11 (12), p.1461

2020

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Marfan Syndrome Caused by Somatic Mosaicism in an FBN1 Splicing Mutation

Revista española de cardiología (English ed.), 2016-05, Vol.69 (5), p.520-521

2016

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Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects

Clinical epigenetics, 2016-01, Vol.8 (10), p.10-10, Article 10

2016

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Differences in expression rather than methylation at placenta-specific imprinted loci is associated with intrauterine growth restriction

Clinical epigenetics, 2019-02, Vol.11 (1), p.35-35, Article 35

2019

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Design and Validation of a Process Based on Cationic Niosomes for Gene Delivery into Novel Urine-Derived Mesenchymal Stem Cells

Pharmaceutics, 2021-05, Vol.13 (5), p.696

2021

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Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review

American journal of medical genetics. Part A, 2016-03, Vol.170A (3), p.734-742

2016

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Clinical utility gene card for: pseudohypoparathyroidism

European journal of human genetics : EJHG, 2013-06, Vol.21 (6), p.5-5

2013

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Permanent neonatal diabetes caused by creation of an ectopic splice site within the INS gene

PloS one, 2012-01, Vol.7 (1), p.e29205-e29205

2012

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Head and neck manifestations of an undiagnosed McCune-Albright syndrome: clinicopathological description and literature review

Virchows Archiv : an international journal of pathology, 2018-11, Vol.473 (5), p.645-648

2018

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From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

European journal of endocrinology, 2016-12, Vol.175 (6), p.P1

2016

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Implicaciones en pediatría del primer consenso internacional para el diagnóstico y asistencia a pacientes con pseudohipoparatiroidismo y enfermedades relacionadas

Anales de pediatría (Barcelona, Spain : 2003), 2019-02, Vol.90 (2), p.125.e1-125.e12

2019

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New ABCC8 Mutations in Relapsing Neonatal Diabetes and Clinical Features

Diabetes (New York, N.Y.), 2007-06, Vol.56 (6), p.1737-1741

2007

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Multilocus methylation defects in imprinting disorders

Biomolecular concepts, 2015-03, Vol.6 (1), p.47-57

2015

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Epigenetic Defects of GNAS in Patients with Pseudohypoparathyroidism and Mild Features of Albright’s Hereditary Osteodystrophy

The journal of clinical endocrinology and metabolism, 2007-06, Vol.92 (6), p.2370-2373

2007

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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

Glucose and galactose malabsorption: A new case in Spain

The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network

Malabsorción de glucosa y galactosa. Nuevo caso en España

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

GATA4 Mutations Are a Cause of Neonatal and Childhood-Onset Diabetes

Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early‐Onset Obesity

Brachydactyly type C due to a nonsense mutation in the GDF5 gene

Choosing the Best Tissue and Technique to Detect Mosaicism in Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS)

New pathogenic variant in DLX5 : New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly

Novel Variant in PLAG1 in a Familial Case with Silver-Russell Syndrome Suspicion

Marfan Syndrome Caused by Somatic Mosaicism in an FBN1 Splicing Mutation

Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances

Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects

Differences in expression rather than methylation at placenta-specific imprinted loci is associated with intrauterine growth restriction

Design and Validation of a Process Based on Cationic Niosomes for Gene Delivery into Novel Urine-Derived Mesenchymal Stem Cells

Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review

Clinical utility gene card for: pseudohypoparathyroidism

Permanent neonatal diabetes caused by creation of an ectopic splice site within the INS gene

Head and neck manifestations of an undiagnosed McCune-Albright syndrome: clinicopathological description and literature review

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

Implicaciones en pediatría del primer consenso internacional para el diagnóstico y asistencia a pacientes con pseudohipoparatiroidismo y enfermedades relacionadas

New ABCC8 Mutations in Relapsing Neonatal Diabetes and Clinical Features

Multilocus methylation defects in imprinting disorders

Epigenetic Defects of GNAS in Patients with Pseudohypoparathyroidism and Mild Features of Albright’s Hereditary Osteodystrophy

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