A. Martínez-Monseny

发表

R. Bowman, G. Holder, M. Caleo, 2021 .

Molecular characterization of Spanish patients with MECP2 duplication syndrome

M. Roselló, C. Orellana, M. Tejada, 2020, Clinical genetics.

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

L. Pérez-Jurado, B. Martínez-Delgado, M. O'Callaghan, 2020, Orphanet journal of rare diseases.

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.

J. González, G. Parra, M. Gut, 2022, The Journal of molecular diagnostics : JMD.

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

B. Oliva, C. Ortez, A. Martínez-Monseny, 2021, International journal of molecular sciences.

Mutation update for the SATB2 gene

Donna M. Martin, Marc S. Williams, E. Roeder, 2019, Human mutation.

Hyaline fibromatosis syndrome: Clinical update and phenotype–genotype correlations

A. García-Alix, B. Pérez-Dueñas, A. Martínez-Monseny, 2018, Human mutation.

Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model

R. Bowman, G. Holder, M. Caleo, 2021, Brain communications.

Okur‐Chung neurodevelopmental syndrome in a patient from Spain

C. Arjona, A. García-Alix, A. Martínez-Monseny, 2019, American journal of medical genetics. Part A.

MECP2-Related Disorders in Males

J. Armstrong, A. Martínez-Monseny, C. Xiol, 2021, International journal of molecular sciences.

Extreme Hyperferritinemia in Dizygotic Twins With Human Parechovirus-3 Infection.

C. Launes, C. Muñoz-Almagro, A. Martínez-Monseny, 2016, The Pediatric infectious disease journal.

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

D. Cuadras, C. Pérez-Cerdá, R. Artuch, 2018, International journal of molecular sciences.

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

A. Martínez-Monseny, L. Martorell, J. Muchart, 2020, American journal of medical genetics. Part A.

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

D. Cuadras, C. Pérez-Cerdá, R. Artuch, 2019, Annals of neurology.

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

J. Fish, David T. Miller, J. Graham, 2020, Clinical genetics.

Targeting the Gut Microbiome in Prader-Willi Syndrome

C. Lerin, M. Ramón-Krauel, A. Martínez-Monseny, 2021, Journal of clinical medicine.

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

Belén Pérez, Rafael Artuch, Alfons Macaya, 2018, Journal of Medical Genetics.

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

D. Cuadras, A. Poretti, C. Pérez-Cerdá, 2017, Journal of Inherited Metabolic Disease.

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

A. Martínez-Monseny, R. Del Río, I. Iglesias-Platas, 2016, Nutrition in clinical practice : official publication of the American Society for Parenteral and Enteral Nutrition.

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

A. Bayat, P. Lapunzina, F. Santos-Simarro, 2021, Clinical genetics.

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

A. Martínez-Monseny, Vega-Hanna Lourdes, Sanz-Cuesta Mario, 2023, Frontiers in Pediatrics.

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

D. Cuadras, R. Artuch, M. Couce, 2018, Neuropediatrics.

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

M. Díaz-Ricart, A. Martínez-Monseny, M. Serrano, 2020, Thrombosis and Haemostasis.

Meningoencephalitis as a presentation form of Behçet

D. Rodà, A. Martínez-Monseny, M. Rebollo, 2016 .

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

Lisa T. Emrick, Ellen F. Macnamara, S. Lalani, 2024, Human genetics.