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As Little as Needed: The Extraordinary Case of a Mild Recessive Osteopetrosis Owing to a Novel Splicing Hypomorphic Mutation in the TCIRG1 Gene

Journal of bone and mineral research, 2014-07, Vol.29 (7), p.1646-1650

2014

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Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso‐Gb3 accumulation and GLA gene sequencing

Clinical genetics, 2021-06, Vol.99 (6), p.761-771

2021

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Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor

Clinical genetics, 2020-03, Vol.97 (3), p.467-476

2020

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Open-label phase 1/2 study of vestronidase alfa for mucopolysaccharidosis VII

Molecular genetics and metabolism reports, 2021-09, Vol.28, p.100774-100774, Article 100774

2021

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Macrocephaly–capillary malformation: Analysis of 13 patients and review of the diagnostic criteria

American journal of medical genetics. Part A, 2010-12, Vol.152A (12), p.3101-3106

2010

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Interstitial 10p deletion derived from a maternal ins(16;10)(q22;p13p15.2): Report of the first familial case of 10p monosomy affecting to two familial members of different generations

American journal of medical genetics. Part A, 2016-05, Vol.170A (5), p.1268-1273

2016

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Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome: A case report

Medicine (Baltimore), 2019-03, Vol.98 (10), p.e14782-e14782

2019

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FGF23-Related Hypophosphataemic Bone Disease

Advances in therapy, 2020-05, Vol.37 (S2), p.25-28

González-Meneses López, Antonio

2020

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Genetic Diagnosis of Rare Diseases: Past and Present

Advances in therapy, 2020-05, Vol.37 (Suppl 2), p.29-37

2020

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Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus

Medicine (Baltimore), 2018-07, Vol.97 (29), p.e11246-e11246

2018

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Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region

BMC medical genetics, 2010-09, Vol.11 (1), p.137-137, Article 137

2010

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Heterogeneity of a Constitutional Complex Chromosomal Rearrangement in 2q

Cytogenetic and genome research, 2016-01, Vol.148 (2-3), p.156-164

2016

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VUS next in rare diseases? Deciphering genetic determinants of biomolecular condensation

Orphanet journal of rare diseases, 2024-09, Vol.19 (1), p.327-12, Article 327

2024

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Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VII

Molecular genetics and metabolism, 2022-05, Vol.136 (1), p.28-37

2022

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Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort

Orphanet journal of rare diseases, 2021-10, Vol.16 (1), p.1-445, Article 445

2021

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Genotype–phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants

Orphanet journal of rare diseases, 2021-05, Vol.16 (1), p.1-233, Article 233

2021

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Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature

American journal of medical genetics. Part A, 2023-07, Vol.191 (7), p.1722-1740

2023

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Mutation prevalence of cerebral cavernous malformation genes in Spanish patients

PloS one, 2014-01, Vol.9 (1), p.e86286

2014

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Combinación de acidemia metilmalónica y homocisteinuria: a propósito de un caso

Nutrición hospitalaria : organo oficial de la Sociedad Española de Nutrición Parenteral y Enteral, 2015-04, Vol.31 (4), p.1885-1888

2015

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Contributions of PHOX2B in the pathogenesis of Hirschsprung disease

PloS one, 2013-01, Vol.8 (1), p.e54043-e54043

2013

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HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation

American journal of medical genetics. Part A, 2006-01, Vol.140A (1), p.1-7

2006

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Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Journal of medical genetics, 2016-06, Vol.53 (6), p.403-418

2016

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Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization

American journal of medical genetics. Part A, 2015-05, Vol.167A (5), p.1018-1025

2015

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FGF23-Related Hypophosphataemic Bone Disease

Advances in therapy, 2020-05, Vol.37 (Suppl 2), p.25-28

González-Meneses López, Antonio

2020

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Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations

Human mutation, 2010, Vol.31 (1), p.E1071-E1080

2010

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As Little as Needed: The Extraordinary Case of a Mild Recessive Osteopetrosis Owing to a Novel Splicing Hypomorphic Mutation in the TCIRG1 Gene

Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso‐Gb3 accumulation and GLA gene sequencing

Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor

Open-label phase 1/2 study of vestronidase alfa for mucopolysaccharidosis VII

Macrocephaly–capillary malformation: Analysis of 13 patients and review of the diagnostic criteria

Interstitial 10p deletion derived from a maternal ins(16;10)(q22;p13p15.2): Report of the first familial case of 10p monosomy affecting to two familial members of different generations

Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome: A case report

FGF23-Related Hypophosphataemic Bone Disease

Genetic Diagnosis of Rare Diseases: Past and Present

Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus

Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region

Heterogeneity of a Constitutional Complex Chromosomal Rearrangement in 2q

VUS next in rare diseases? Deciphering genetic determinants of biomolecular condensation

Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VII

Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort

Genotype–phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants

Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature

Mutation prevalence of cerebral cavernous malformation genes in Spanish patients

Combinación de acidemia metilmalónica y homocisteinuria: a propósito de un caso

Contributions of PHOX2B in the pathogenesis of Hirschsprung disease

HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization

FGF23-Related Hypophosphataemic Bone Disease

Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations

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