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Okur‐Chung neurodevelopmental syndrome in a patient from Spain

American journal of medical genetics. Part A, 2020-01, Vol.182 (1), p.20-24

2020

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Platelet Dysfunction in Noonan and 22q11.2 Deletion Syndromes in Childhood

Thrombosis and haemostasis, 2020-03, Vol.120 (3), p.457-465

2020

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Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2

Clinical genetics, 2021-04, Vol.99 (4), p.547-557

2021

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Unravelling short stature in pediatrics: the crucial role of genetic perspective

Translational pediatrics, 2024-05, Vol.13 (5), p.864-868

Martinez-Monseny, Antonio F.

2024

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Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study

Frontiers in pediatrics, 2023-06, Vol.11, p.1184529-1184529

2023

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Targeting the Gut Microbiome in Prader-Willi Syndrome

Journal of clinical medicine, 2021-11, Vol.10 (22), p.5328

2021

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A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)

Orphanet journal of rare diseases, 2017-09, Vol.12 (1), p.155-155, Article 155

2017

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International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

Journal of inherited metabolic disease, 2019-01, Vol.42 (1), p.5-28

2019

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Mutation update for the SATB2 gene

Human mutation, 2019-08, Vol.40 (8), p.1013-1029, Article humu.23771

2019

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AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2‐CDG)

Annals of neurology, 2019-05, Vol.85 (5), p.740-751

2019

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Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

Orphanet journal of rare diseases, 2020-02, Vol.15 (1), p.44-44, Article 44

2020

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MECP2 -Related Disorders in Males

International journal of molecular sciences, 2021-09, Vol.22 (17), p.9610

2021

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From gestalt to gene: early predictive dysmorphic features of PMM2-CDG

Journal of medical genetics, 2019-04, Vol.56 (4), p.236-245

2019

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Hyaline fibromatosis syndrome: Clinical update and phenotype–genotype correlations

Human mutation, 2018-12, Vol.39 (12), p.1752-1763

2018

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CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings

International journal of molecular sciences, 2021-05, Vol.22 (10), p.5180

2021

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Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy

International journal of molecular sciences, 2018-02, Vol.19 (2), p.619

2018

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Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies

Human genetics, 2024-03, Vol.143 (3), p.279-291

2024

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Early‐onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review

American journal of medical genetics. Part A, 2021-01, Vol.185 (1), p.256-260

2021

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Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

Journal of inherited metabolic disease, 2017-09, Vol.40 (5), p.709-713

2017

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Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG

Neuropediatrics, 2018-12, Vol.49 (6), p.408-413

2018

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Changes in Parenteral Nutrition During the First Week of Life Influence Early but Not Late Postnatal Growth in Very Low-Birth-Weight Infants

Nutrition in clinical practice, 2016-10, Vol.31 (5), p.666-672

2016

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Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

Journal of inherited metabolic disease, 2017-09, Vol.40 (5), p.753-754

2017

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Okur‐Chung neurodevelopmental syndrome in a patient from Spain

Platelet Dysfunction in Noonan and 22q11.2 Deletion Syndromes in Childhood

Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features

Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2

Unravelling short stature in pediatrics: the crucial role of genetic perspective

Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study

Targeting the Gut Microbiome in Prader-Willi Syndrome

A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)

International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

Mutation update for the SATB2 gene

AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2‐CDG)

Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

MECP2 -Related Disorders in Males

From gestalt to gene: early predictive dysmorphic features of PMM2-CDG

Hyaline fibromatosis syndrome: Clinical update and phenotype–genotype correlations

Molecular characterization of Spanish patients with MECP2 duplication syndrome

CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings

Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy

Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies

Early‐onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review

Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG

Changes in Parenteral Nutrition During the First Week of Life Influence Early but Not Late Postnatal Growth in Very Low-Birth-Weight Infants

Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

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