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Rett syndrome: clinical review and genetic update

Journal of Medical Genetics, 2005-01, Vol.42 (1), p.1-7

2005

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

Neuroscience, 2007-04, Vol.146 (1), p.236-247

2007

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

Molecular psychiatry, 2010-07, Vol.15 (7), p.767-776

2010

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

Molecular psychiatry, 2016-01, Vol.21 (1), p.126-132

2016

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Genes for cognitive function: developments on the X

Genome research, 2000-02, Vol.10 (2), p.157-163

2000

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

Clinical genetics, 2004-07, Vol.66 (1), p.39-45

2004

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

Clinical genetics, 2008-02, Vol.73 (2), p.188-190

2008

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

Cytogenetic and Genome Research, 2002-01, Vol.99 (1-4), p.141-145

2002

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

Molecular psychiatry, 2015-02, Vol.20 (2), p.176-182

2015

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A Upf3b-mutant mouse model with behavioral and neurogenesis defects

Molecular psychiatry, 2018-08, Vol.23 (8), p.1773-1786

2018

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

Journal of medical genetics, 2000-10, Vol.37 (10), p.782-784

GECZ, Jozef

2000

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

Npj genomic medicine, 2021-09, Vol.6 (1), p.74-74, Article 74

2021

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

Journal of medical genetics, 2003-04, Vol.40 (4), p.e50-50

2003

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

Human molecular genetics, 2015-06, Vol.24 (12), p.3335-3347

2015

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

Journal of neurology, neurosurgery and psychiatry, 2003-04, Vol.74 (4), p.536-538

2003

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

Molecular psychiatry, 2012-11, Vol.17 (11), p.1103-1115

2012

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The genetic landscape of intellectual disability arising from chromosome X

Trends in genetics, 2009-07, Vol.25 (7), p.308-316

2009

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

Clinical genetics, 2003-09, Vol.64 (3), p.235-242

2003

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

Journal of medical genetics, 2007-07, Vol.44 (7), p.472-477

2007

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

Nature genetics, 1999-08, Vol.22 (4), p.400-404

1999

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

Molecular psychiatry, 2012-01, Vol.17 (1), p.4-7

2012

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Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency

Journal of Pediatric Endocrinology and Metabolism, 2003-12, Vol.16 (9), p.1295

2003

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New insights into Brunner syndrome and potential for targeted therapy

Clinical genetics, 2016-01, Vol.89 (1), p.120-127

2016

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

Journal of medical genetics, 2006-03, Vol.43 (3), p.238-243

2006

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Rett syndrome: clinical review and genetic update

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

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

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

Genes for cognitive function: developments on the X

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

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

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

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

A Upf3b-mutant mouse model with behavioral and neurogenesis defects

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

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

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

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

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

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

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

The genetic landscape of intellectual disability arising from chromosome X

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

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

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

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

Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency

New insights into Brunner syndrome and potential for targeted therapy

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

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