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NR4A2 as a Novel Target Gene for Developmental and Epileptic Encephalopathy: A Systematic Review of Related Disorders and Therapeutic Strategies

International journal of molecular sciences, 2024-05, Vol.25 (10), p.5198

2024

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High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing

Journal of medical genetics, 2017-02, Vol.54 (2), p.87

2017

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Recent Evidence in Epigenomics and Proteomics Biomarkers for Early and Minimally Invasive Diagnosis of Alzheimer's and Parkinson's Diseases

Current neuropharmacology, 2021-01, Vol.19 (8), p.1273-1303

2021

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Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature

International journal of molecular sciences, 2021-05, Vol.22 (11), p.5609

2021

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Modulation of copper deficiency responses by diurnal and circadian rhythms in Arabidopsis thaliana

Journal of experimental botany, 2016-01, Vol.67 (1), p.391-403

2016

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N-Type Ca Channel in Epileptic Syndromes and Epilepsy: A Systematic Review of Its Genetic Variants

International journal of molecular sciences, 2023-03, Vol.24 (7), p.6100

2023

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CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy

International journal of molecular sciences, 2022-04, Vol.23 (9), p.4879

2022

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Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes

Pediatric research, 2015-11, Vol.78 (5), p.533-539

2015

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Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements

American journal of human genetics, 2012-08, Vol.91 (2), p.252-264

2012

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Letter to the Editor: Breastfeeding and COVID-19 Vaccine: Yes We Can

Journal of human lactation, 2021-05, Vol.37 (2), p.275-276

2021

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Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes

American journal of medical genetics. Part A, 2016-11, Vol.170A (11), p.2916-2926

2016

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Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability

International journal of genomics, 2017-01, Vol.2017, p.1-11

2017

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Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomalies

BMC genomics, 2010-11, Vol.3 (1), p.54-54, Article 54

2010

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A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome

American journal of medical genetics. Part A, 2015-06, Vol.167A (6), p.1342-1348

2015

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INR4A2/I as a Novel Target Gene for Developmental and Epileptic Encephalopathy: A Systematic Review of Related Disorders and Therapeutic Strategies

International journal of molecular sciences, 2024-05, Vol.25 (10)

2024

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Congenital myasthenia syndrome with demyelinating sensorimotor neuropathy responsive to salbutamol monotherapy: a novel clinical phenotype of CHRNE mutation

Neurological sciences, 2024-07, Vol.45 (7), p.3555-3558

2024

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De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?

Pediatric research, 2016-12, Vol.80 (6), p.809-815

2016

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Encefalopatía epiléptica del lactante: lo prioritario es un buen estudio genético

Revista de neurologiá, 2018, Vol.66 (9), p.324

2018

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Daily rhythmicity of high affinity copper transport

Plant signaling & behavior, 2016-01, Vol.11 (3), p.e1140291-e1140291

2016

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Noninvasive prenatal testing: How far can we reach detecting fetal copy number variations

European journal of obstetrics & gynecology and reproductive biology, 2022-05, Vol.272, p.150-155

2022

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Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern

Human mutation, 2016-08, Vol.37 (8), p.804-811

2016

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Arabidopsis heavy metal P-type ATPase HMA5 interacts with metallochaperones and functions in copper detoxification of roots

The Plant journal : for cell and molecular biology, 2006, Vol.45 (2), p.225-236

2006

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Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder

Genetics in medicine, 2015-08, Vol.17 (8), p.683-684

2015

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Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome

American journal of medical genetics. Part A, 2015-07, Vol.167A (7), p.1614-1620

2015

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NR4A2 as a Novel Target Gene for Developmental and Epileptic Encephalopathy: A Systematic Review of Related Disorders and Therapeutic Strategies

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing

Recent Evidence in Epigenomics and Proteomics Biomarkers for Early and Minimally Invasive Diagnosis of Alzheimer's and Parkinson's Diseases

Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature

Modulation of copper deficiency responses by diurnal and circadian rhythms in Arabidopsis thaliana

N-Type Ca Channel in Epileptic Syndromes and Epilepsy: A Systematic Review of Its Genetic Variants

CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy

Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes

Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements

Letter to the Editor: Breastfeeding and COVID-19 Vaccine: Yes We Can

Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes

Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability

Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomalies

A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome

INR4A2/I as a Novel Target Gene for Developmental and Epileptic Encephalopathy: A Systematic Review of Related Disorders and Therapeutic Strategies

Congenital myasthenia syndrome with demyelinating sensorimotor neuropathy responsive to salbutamol monotherapy: a novel clinical phenotype of CHRNE mutation

De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?

Encefalopatía epiléptica del lactante: lo prioritario es un buen estudio genético

Daily rhythmicity of high affinity copper transport

Noninvasive prenatal testing: How far can we reach detecting fetal copy number variations

Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern

Arabidopsis heavy metal P-type ATPase HMA5 interacts with metallochaperones and functions in copper detoxification of roots

Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder

Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families

Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome

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