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Fragile X syndrome: from molecular genetics to therapy

Journal of Medical Genetics, 2009-09, Vol.46 (9), p.577-584

2009

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Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children

Translational psychiatry, 2017-02, Vol.7 (2), p.e1043-e1043

2017

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Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing

Clinical genetics, 2015-08, Vol.88 (2), p.140-148

2015

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A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9)

Journal of medical genetics, 2004-09, Vol.41 (9), p.679-683

2004

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Behavioural characterization of AnkyrinG deficient mice, a model for ANK3 related disorders

Behavioural brain research, 2017-06, Vol.328, p.218-226

2017

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Mildly impaired water maze performance in male Fmr1 knockout mice

Neuroscience, 1997, Vol.76 (2), p.367-376

1997

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Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics

Clinical genetics, 2006-01, Vol.69 (1), p.58-64

2006

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L1 Knockout Mice Show Dilated Ventricles, Vermis Hypoplasia and Impaired Exploration Patterns

Human molecular genetics, 1998-06, Vol.7 (6), p.999-1009

1998

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Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children

Translational psychiatry, 2017-07, Vol.7 (7), p.e1166-e1166

2017

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Genetic modifiers in mice: the example of the fragile X mouse model

Cytogenetic and Genome Research, 2004-01, Vol.105 (2-4), p.448-454

2004

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Familial Mental Retardation Syndrome ATR-16 Due to an Inherited Cryptic Subtelomeric Translocation, t(3;16)(q29;p13.3)

American journal of human genetics, 2000-01, Vol.66 (1), p.16-25

2000

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A New Neurological Syndrome with Mental Retardation, Choreoathetosis, and Abnormal Behavior Maps to Chromosome Xp11

American journal of human genetics, 1999-11, Vol.65 (5), p.1406-1412

1999

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Spatial learning, contextual fear conditioning and conditioned emotional response in Fmr1 knockout mice

Behavioural brain research, 2000-12, Vol.117 (1), p.127-136

2000

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FVB.129P2-Pde6b(+) Tyr(c-ch)/Ant, a sighted variant of the FVB/N mouse strain suitable for behavioral analysis

Genes, brain and behavior, 2007-08, Vol.6 (6), p.552-557

2007

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VariantDB: a flexible annotation and filtering portal for next generation sequencing data

Genome medicine, 2014-10, Vol.6 (10), p.74-74, Article 74

2014

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Expression of the GABAergic system in animal models for fragile X syndrome and fragile X associated tremor/ataxia syndrome (FXTAS)

Brain research, 2009-02, Vol.1253, p.176-183

2009

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Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

Nature neuroscience, 2017-08, Vol.20 (8), p.1043

2017

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CGG-Repeat Expansion in the DIP2B Gene Is Associated with the Fragile Site FRA12A on Chromosome 12q13.1

American journal of human genetics, 2007-02, Vol.80 (2), p.221-231

2007

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A yeast artificial chromosome contig that spans the RB1-D13S31 interval on human chromosome 13 and encompasses the frequently deleted region in B-cell chronic lymphocytic leukemia

Genomics (San Diego, Calif.), 1995-12, Vol.30 (3), p.425-430

1995

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Long-term potentiation in mice lacking the neural cell adhesion molecule L1

Current biology, 2000-12, Vol.10 (24), p.1607-1610

2000

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The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism

American journal of medical genetics. Part C, Seminars in medical genetics, 2014-09, Vol.166C (3), p.315-326

2014

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The Reduced Expression of the HADH2 Protein Causes X-Linked Mental Retardation, Choreoathetosis, and Abnormal Behavior

American journal of human genetics, 2007-02, Vol.80 (2), p.372-377

2007

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Incomplete EcoRI digestion may lead to false diagnosis of fragile X syndrome

Human genetics, 1998, Vol.102 (1), p.54-56

1998

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Fragile X syndrome: from molecular genetics to therapy

Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children

Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing

A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9)

Behavioural characterization of AnkyrinG deficient mice, a model for ANK3 related disorders

Mildly impaired water maze performance in male Fmr1 knockout mice

Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics

L1 Knockout Mice Show Dilated Ventricles, Vermis Hypoplasia and Impaired Exploration Patterns

Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children

Genetic modifiers in mice: the example of the fragile X mouse model

Familial Mental Retardation Syndrome ATR-16 Due to an Inherited Cryptic Subtelomeric Translocation, t(3;16)(q29;p13.3)

A New Neurological Syndrome with Mental Retardation, Choreoathetosis, and Abnormal Behavior Maps to Chromosome Xp11

Spatial learning, contextual fear conditioning and conditioned emotional response in Fmr1 knockout mice

FVB.129P2-Pde6b(+) Tyr(c-ch)/Ant, a sighted variant of the FVB/N mouse strain suitable for behavioral analysis

VariantDB: a flexible annotation and filtering portal for next generation sequencing data

Expression of the GABAergic system in animal models for fragile X syndrome and fragile X associated tremor/ataxia syndrome (FXTAS)

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

CGG-Repeat Expansion in the DIP2B Gene Is Associated with the Fragile Site FRA12A on Chromosome 12q13.1

A yeast artificial chromosome contig that spans the RB1-D13S31 interval on human chromosome 13 and encompasses the frequently deleted region in B-cell chronic lymphocytic leukemia

Long-term potentiation in mice lacking the neural cell adhesion molecule L1

The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism

The Reduced Expression of the HADH2 Protein Causes X-Linked Mental Retardation, Choreoathetosis, and Abnormal Behavior

Incomplete EcoRI digestion may lead to false diagnosis of fragile X syndrome

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