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Lista de obras de Jozef Gécz

'Big issues' in neurodevelopment for children and adults with congenital heart disease

artículo científico publicado en 2019

'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation

artículo científico publicado en 2013

-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling

artículo científico publicado en 2018

1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family

artículo científico publicado en 2004

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations

artículo científico publicado en 2017

A UPF3-mediated regulatory switch that maintains RNA surveillance

artículo científico publicado en 2009

A Upf3b-mutant mouse model with behavioral and neurogenesis defects.

artículo científico publicado en 2017

A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.

artículo científico publicado en 2010

A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

artículo científico publicado en 2010

A genomic cause of cerebral palsy should not change the clinical classification.

artículo científico publicado en 2018

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

artículo científico publicado en 2017

A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation

artículo científico publicado en 1999

A mouse model for intellectual disability caused by mutations in the X-linked 2′‑O‑methyltransferase Ftsj1 gene

article

A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.

artículo científico publicado en 2015

A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia

artículo científico publicado en 2011

A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay

scientific article published on 24 September 2018

A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability

artículo científico publicado en 2016

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability

artículo científico publicado en 2012

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.

artículo científico publicado en 2015

A novel contiguous gene deletion ofAVPR2andARHGAP4genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability

article

A novel de novo 27 bp duplication of theARXgene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations

A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutation

artículo científico publicado en 2002

A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family.

artículo científico publicado en 2009

A novel locus for X-linked congenital cataract on Xq24.

artículo científico publicado en 2008

A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32.

artículo científico publicado en 2010

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

artículo científico publicado en 2010

A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda

artículo científico publicado en 2001

A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX

scientific journal article

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy

artículo científico publicado en 2020

A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity

artículo científico publicado en 2018

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

artículo científico publicado en 2009

A ubiquitin-dependent signalling axis specific for ALKBH-mediated DNA dealkylation repair.

artículo científico publicado en 2017

ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression

artículo científico publicado en 2011

ARX spectrum disorders: making inroads into the molecular pathology

artículo científico publicado en 2010

ARX: a gene for all seasons

artículo científico publicado en 2006

Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy

artículo científico publicado en 2018

Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation

artículo científico publicado en 2002

An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase

artículo científico publicado en 2020

Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism.

artículo científico publicado en 2018

Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor

artículo científico publicado en 2007

Assignment of a Polycomb-like chromobox gene (CBX2) to human chromosome 17q25.

artículo científico publicado en 1995

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

artículo científico publicado en 2020

Avascular necrosis of bone in childhood cancer patients: a possible role of genetic susceptibility

artículo científico

BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down syndrome patients

artículo científico publicado en 2012

Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome

scientific journal article

Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome

artículo científico publicado en 2016

Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency.

artículo científico publicado en 2003

Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX.

artículo científico publicado en 2003

Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay

artículo científico publicado en 2012

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

artículo científico publicado en 2009

CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling

artículo científico publicado en 2013

CCDC22: a novel candidate gene for syndromic X-linked intellectual disability

artículo científico publicado en 2011

COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A

artículo científico publicado en 2015

Cerebral palsy and genomics: an international consortium

artículo científico publicado en 2018

Cerebral palsy with autism and ADHD: time to pay attention

artículo científico publicado en 2020

Cerebral palsy: causes, pathways, and the role of genetic variants

artículo científico

Challenges of "sticky" co-immunoprecipitation: polyalanine tract protein-protein interactions

artículo científico publicado en 2013

Characterisation and expression of a large, 13.7 kb FMR2 isoform

artículo científico publicado en 1999

Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for X-linked mental retardation: mutation screening in Börjeson-Forssman-Lehmann syndrome and MRX27

artículo científico publicado en 2001

Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation

artículo científico publicado en 1999

Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intactNKX2-1

artículo científico publicado en 2012

Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability

scientific article published on 01 March 2019

Clinical study of two brothers with a novel 33 bp duplication in theARXgene

article

Cloning and characterization of a new human Xq13 gene, encoding a putative helicase

artículo científico publicado en 1994

Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3

artículo científico publicado en 1994

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

artículo científico publicado en 2018

Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment

artículo científico publicado en 2024

Constraint and conservation of the paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance

scientific article published on 07 May 2020

Construction of a YAC contig spanning the Xq13.3 subband.

artículo científico publicado en 1995

Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders

artículo científico publicado en 2013

Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene

artículo científico publicado en 2015

Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay

scientific article published on 01 September 2019

Corrigendum to: CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

artículo científico publicado en 2010

Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders

artículo científico publicado en 2010

DNA analysis as a method for the prevention of cystic fibrosis

artículo científico publicado en 1988

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

artículo científico publicado en 2016

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

scientific article published on 18 October 2018

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

artículo científico publicado en 2019

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.

artículo científico publicado en 2016

Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1

scientific journal article

Definition and diagnosis of cerebral palsy in genetic studies: a systematic review

artículo científico publicado en 2020

Deletion ΔF508 and haplotype analysis of CFTR gene region in Slovak CF patients

article

Developmental disorders: deciphering exomes on a grand scale

artículo científico publicado en 2014

Disentangling the paradox of the PCDH19 clustering epilepsy, a disorder of cellular mosaics

artículo científico publicado en 2020

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

artículo científico publicado en 2016

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability

artículo científico publicado en 2010

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

artículo científico publicado en 2016

Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males

artículo científico publicado en 2004

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

artículo científico publicado en 2003

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

artículo científico publicado en 2006

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

artículo científico publicado en 2015

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

artículo científico publicado en 2019

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

scientific article published on 25 September 2019

Distribution of ApoBII, MCT118 (D1S80), YNZ22 (D17S30), and COL2A1 Amp-FLPs (amplified fragment length polymorphisms) in Caucasoid population of Slovakia

artículo científico publicado en 1994

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy

artículo científico publicado en 2016

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

artículo científico publicado en 2005

Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders

article

EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities

scientific article published on 23 October 2019

Early onset seizures and Rett-like features associated with mutations in CDKL5.

artículo científico publicado en 2005

Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum

artículo científico publicado en 2016

Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the ARX homeobox gene

artículo científico publicado en 2016

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

artículo científico publicado en 2009

Epilepsy and mental retardation limited to females: an under-recognized disorder

artículo científico publicado en 2008

Erratum: Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy

artículo científico publicado en 2019

Erratum: Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

scholarly article published in European Journal of Human Genetics

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

artículo científico publicado en 2020

Evolution of the human X--a smart and sexy chromosome that controls speciation and development.

artículo científico publicado en 2002

Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders

artículo científico publicado en 2008

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor

artículo científico publicado en 2020

Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations

artículo científico publicado en 2012

FMR2 expression in families with FRAXE mental retardation.

artículo científico publicado en 1997

FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations

artículo científico publicado en 2000

FOXP1mutations cause intellectual disability and a recognizable phenotype

scientific article published on 24 September 2013

FRA2A is a CGG repeat expansion associated with silencing of AFF3

artículo científico publicado en 2014

FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure

artículo científico publicado en 2009

Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families

artículo científico publicado en 2020

Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations

artículo científico publicado en 2017

Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient

artículo científico publicado en 1999

Fine mapping and cloning of the breakpoint associated with Menkes syndrome in a female patient

artículo científico publicado en 1992

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability

artículo científico publicado en 2010

Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein

artículo científico publicado en 2004

Fragile XE-associated familial mental retardation protein 2 (FMR2) acts as a potent transcription activator

artículo científico publicado en 2001

Frequency and distribution of deletions in dystrophin gene in Duchenne muscular dystrophy patients from an east-European Slavonic population

artículo científico publicado en 1991

Frequency of cystic fibrosis mutations and associated haplotype distribution in Slovak CF patients

artículo científico publicado en 1991

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.

artículo científico publicado en 2007

Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability

artículo científico publicado en 2011

Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda

artículo científico publicado en 2000

Gene structure and subcellular localization of FMR2, a member of a new family of putative transcription activators

artículo científico publicado en 1997

Genes for cognitive function: developments on the X.

artículo científico publicado en 2000

Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy

artículo científico publicado en 2019

Genetics of the epilepsies: genetic twists in the channels and other tales.

artículo científico publicado en 2010

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

artículo científico publicado en 2022

Glutamate receptors and learning and memory

artículo científico publicado el 1 de noviembre de 2010

Great expectations: using massively parallel sequencing to solve inherited disorders

article

HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain

artículo científico publicado en 2015

HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

artículo científico publicado en 2016

Haplotype analysis of the CFTR gene region and the proportion of delta F508 deletion in Slovak patients with cystic fibrosis

artículo científico publicado en 1992

Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females

scientific article published on 22 August 2019

Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders

scientific article published on 01 December 2019

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder

artículo científico publicado en 2014

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

artículo científico publicado en 2017

Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not

artículo científico publicado en 2003

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.

artículo científico publicado en 2011

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome

artículo científico publicado en 2010

Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome.

artículo científico publicado en 2015

Identification and characterization of a missense mutation in the O-linked β-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability

artículo científico publicado en 2017

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation

artículo científico publicado en 2009

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.

artículo científico publicado en 2012

Identification of a de novo mutation in a factor FVIII:C gene in a family requesting prenatal diagnosis of hemophilia A

artículo científico publicado en 1992

Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decay

artículo científico publicado en 2011

Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome

artículo científico publicado en 2000

Identification of aSEDLgene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasia

Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism.

artículo científico publicado en 2016

Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda

artículo científico publicado en 1999

Identification of the gene FMR2, associated with FRAXE mental retardation

artículo científico publicado en 1996

Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4

artículo científico publicado en 2003

Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.

artículo científico publicado en 2016

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

artículo científico publicado en 2015

Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX

artículo científico publicado en 2002

Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia.

artículo científico publicado en 2011

Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response

artículo científico publicado en 2019

Interchromosomal Insertional Translocation at Xq26.3 AltersSOX3Expression in an Individual With XX Male Sex Reversal

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

artículo científico publicado en 2019

Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?

artículo científico publicado en 2016

Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?

artículo científico publicado en 2012

La FAM fatale: USP9X in development and disease

artículo científico publicado en 2015

Lack of FMR3 expression in a male with non-syndromic mental retardation and a microdeletion immediately distal to FRAXE CCG repeat

artículo científico publicado en 2006

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

scientific article published on 01 October 2020

Lessons learnt from large-scale exon re-sequencing of the X chromosome

scientific article published on April 2009

Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy

artículo científico publicado en 2020

Loss of FMR2 further emphasizes the link between deregulation of immediate early response genes FOS and JUN and intellectual disability

scientific journal article

Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region.

artículo científico publicado en 2007

Loss of Usp9x disrupts cortical architecture, hippocampal development and TGFβ-mediated axonogenesis

scientific journal article

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression

artículo científico publicado en 2008

MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression

artículo científico publicado en 2017

Missense variant contribution to USP9X-female syndrome

artículo científico publicado en 2020

Molecular genetics of X-linked mental retardation: a complex picture emerging.

artículo científico publicado en 2001

Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene

artículo científico publicado en 2007

Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons

artículo científico publicado en 2004

Multiplex families with epilepsy: Success of clinical and molecular genetic characterization

artículo científico publicado en 2016

Mutation detection in FGFR2 craniosynostosis syndromes

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

artículo científico publicado en 2007

Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient

artículo científico publicado en 2006

Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation

artículo científico publicado en 2006

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

artículo científico publicado en 2020

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor

artículo científico publicado en 2007

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

scientific journal article

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

scientific journal article

Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome

artículo científico publicado en 2002

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

artículo científico publicado en 2007

Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth

artículo científico publicado en 2014

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus

artículo científico publicado en 2007

Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

artículo científico publicado en 2003

Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans

artículo científico publicado en 2007

Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.

artículo científico publicado en 2014

Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly

artículo científico publicado en 2007

Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation

artículo científico publicado en 2004

Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

artículo científico publicado en 2004

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

artículo científico publicado en 2004

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

artículo científico publicado en 2004

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation

artículo científico publicado en 2006

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

artículo científico publicado en 2010

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

artículo científico publicado en 2002

Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity

artículo científico publicado en 2015

Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division

artículo científico publicado en 2010

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

artículo científico publicado en 2003

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

artículo científico publicado en 2010

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

artículo científico publicado en 2004

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

artículo científico publicado en 2015

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

artículo científico publicado en 2009

NHS-A isoform of the NHS gene is a novel interactor of ZO-1.

artículo científico publicado en 2009

NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy

artículo científico publicado en 2013

Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions

artículo científico publicado en 2006

New insights into Brunner syndrome and potential for targeted therapy.

artículo científico publicado en 2015

New mutations and sporadic intellectual disability

artículo científico publicado en 2012

Nonsense-mediated mRNA decay: inter-individual variability and human disease

artículo científico publicado en 2014

Nonsyndromic X-linked mental retardation: where are the missing mutations?

artículo científico publicado en 2003

Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis

artículo científico publicado en 2014

Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome ⬇️

artículo científico publicado en 2003

Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform

artículo científico publicado en 2008

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

artículo científico publicado en 2019

Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X).

artículo científico publicado en 2009

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

artículo científico publicado en 2008

Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: identification of a gene near FRAXE.

artículo científico publicado en 1995

PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum

artículo científico publicado en 2020

PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Clustering Epilepsy

artículo científico publicado en 2018

PCR amplification and sequence analysis of GC-rich sequences: Aristaless-related homeobox example

artículo científico publicado en 2013

PCR amplification of large VNTR alleles of D17S5 (YNZ22) locus

artículo científico publicado en 1991

PHF6 mutations in T-cell acute lymphoblastic leukemia

artículo científico publicado en 2010

PHF6 regulates hematopoietic stem and progenitor cells and its loss synergizes with expression of TLX3 to cause leukemia

artículo científico publicado en 2019

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome

artículo científico publicado en 2012

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

artículo científico publicado en 2019

Partial androgen insensitivity syndrome and t(X;5): are there upstream regulatory elements of the androgen receptor gene?

artículo científico publicado en 2004

Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy

article

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

article

Pcdh19 Loss-of-Function Increases Neuronal Migration In Vitro but is Dispensable for Brain Development in Mice

artículo científico publicado en 2016

Phenotype-genotype complexities: opening DOORS.

artículo científico publicado en 2013

Physical and transcriptional mapping of DXS56-PGK1 1 Mb region: identification of three new transcripts

scientific article published on 01 September 1993

Polyalanine tract disorders and neurocognitive phenotypes

artículo científico publicado en 2012

Protein and gene expression analysis of Phf6, the gene mutated in the Börjeson-Forssman-Lehmann Syndrome of intellectual disability and obesity

scientific journal article

Proteomic analysis of the developing mammalian brain links PCDH19 to the Wnt/β-catenin signalling pathway

artículo científico publicado en 2024

Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα).

artículo científico publicado en 2017

Protocadherin Mutations in Neurodevelopmental Disorders

Rare copy number variation in cerebral palsy

scientific article published on 22 May 2013

Recurrent deletion ofZNF630at Xp11.23 is not associated with mental retardation

scientific article published on 01 March 2010

Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation

artículo científico publicado en 2013

Reduced steroidogenesis in patients with PCDH19-female limited epilepsy.

artículo científico publicado en 2017

Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes

artículo científico publicado en 2008

Refining analyses of copy number variation identifies specific genes associated with developmental delay

artículo científico publicado en 2014

Regulating transcriptional activity by phosphorylation: A new mechanism for the ARX homeodomain transcription factor

scientific article published in PLoS ONE

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Restoring reproductive confidence in families with X-linked mental retardation by finding the causal mutation.

artículo científico publicado en 2007

Rett syndrome: clinical review and genetic update

artículo científico publicado en 2005

Robust imaging and gene delivery to study human lymphoblastoid cell lines

artículo científico publicado en 2018

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

artículo científico publicado en 2008

Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene

artículo científico publicado en 2011

Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH.

artículo científico publicado en 2007

Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase

artículo científico publicado en 2015

Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation

scientific article published on 28 April 2020

Severe neurocognitive and growth disorders due to variation in THOC2 , an essential component of nuclear mRNA export machinery

artículo científico publicado en 2018

Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia

artículo científico publicado en 1996

Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)

artículo científico publicado en 2003

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

artículo científico publicado en 2008

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

artículo científico publicado en 2008

Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability

artículo científico publicado en 2010

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

artículo científico publicado en 2016

TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation.

artículo científico publicado en 2013

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability

scientific journal article

TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation

artículo científico publicado en 2004

TaqI digestion of PCR product increases the informativity of St14 VNTR for the diagnosis of hemophilia A.

artículo científico publicado en 1993

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

artículo científico publicado en 2015

Targeted knockout of a chemokine-like gene increases anxiety and fear responses

artículo científico publicado en 2018

Targeted resequencing identifies genes with recurrent variation in cerebral palsy

scientific article published on 04 November 2019

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

artículo científico publicado en 2017

The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900).

artículo científico publicado en 2006

The FMR2 gene, FRAXE and non-specific X-linked mental retardation: clinical and molecular aspects

artículo científico publicado en 2000

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

scientific article published on 26 August 2015

The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth

artículo científico publicado en 2013

The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.

artículo científico publicado en 2004

The genetic basis of cerebral palsy

artículo científico publicado en 2017

The genetic landscape of intellectual disability arising from chromosome X.

artículo científico publicado en 2009

The molecular basis of X-linked spondyloepiphyseal dysplasia tarda

artículo científico publicado en 2001

The molecular basis of intellectual disability: novel genes with naturally occurring mutations causing altered gene expression in the brain

artículo científico publicado en 2004

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

artículo científico publicado en 2007

Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.

artículo científico publicado en 2004

Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability.

artículo científico publicado en 2011

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

artículo científico publicado en 2018

Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patients

artículo científico publicado en 2007

Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1.

artículo científico publicado en 1999

UPF3B mutations including a novel synonymous variant associated with absent speech implicate nonsense mediated mRNA decay as a regulator of neurodevelopmental disorder gene networks

artículo científico publicado en 2020

USP9X deubiquitylating enzyme maintains RAPTOR protein levels, mTORC1 signalling and proliferation in neural progenitors.

artículo científico publicado en 2017

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

scientific article published on 29 October 2019

Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation

artículo científico publicado en 2002

Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction

artículo científico publicado en 2017

Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy

artículo científico publicado en 2015

X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease.

artículo científico publicado en 2017

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

scientific journal article

X-linked intellectual disability: Phenotypic expression in carrier females

scientific article published on 24 November 2019

X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3.

artículo científico publicado en 2003

X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX

artículo científico publicado en 2002

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

artículo científico publicado en 2008

XLMR genes: update 2007.

artículo científico publicado en 2008

XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene

artículo científico publicado en 2005

XNP mutation in a large family with Juberg-Marsidi syndrome

artículo científico publicado en 1996

Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders

artículo científico publicado en 2015

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

artículo científico

Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing

artículo científico publicado en 2021

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity

artículo científico publicado en 2013

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation

artículo científico publicado en 2005

[DNA diagnosis of hemophilia A in a family without an affected proband]

scientific article published on 01 June 1993

[Molecular genetic analysis of deletions in the Duchenne and Becker types of progressive muscular dystrophy]

scientific article published on 01 May 1993

[The delta F508 mutation which causes cystic fibrosis and its association with closely linked DNA polymorphisms in the Slovak population]

artículo científico publicado en 1992

“Blinders, phenotype, and fashionable genetic analysis”: Setting the record straight for epilepsy!

artículo científico publicado en 2011

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