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Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand?

International journal of molecular sciences, 2022-05, Vol.23 (10), p.5425

2022

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Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype

Nature genetics, 2012-06, Vol.44 (6), p.636-638

2012

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NLRP12 gene mutations and auto-inflammatory diseases: ever-changing evidence

Rheumatology (Oxford, England), 2020-11, Vol.59 (11), p.3129-3136

2020

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Aldo-Keto Reductase 1C1 ( AKR1C1 ) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema

International journal of molecular sciences, 2020-08, Vol.21 (17), p.6264

2020

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A next generation sequencing gene panel for use in the diagnosis of anorexia nervosa

Eating and weight disorders, 2022-06, Vol.27 (5), p.1869-1880

2022

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Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia

Neurogenetics, 2020-10, Vol.21 (4), p.279-287

2020

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Molecular dissection of the events leading to inactivation of the FMR1 gene

Human molecular genetics, 2005-01, Vol.14 (2), p.267-277

2005

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Fragile X syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2005-08, Vol.137C (1), p.32-37

2005

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A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family

American journal of medical genetics. Part A, 2006-03, Vol.140A (5), p.482-487

2006

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Pathogenic variants in SOX11 mimicking Pitt‐Hopkins syndrome phenotype

Clinical genetics, 2024-01, Vol.105 (1), p.81-86

2024

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Expansion to full mutation of a FMR1 intermediate allele over two generations

European journal of human genetics : EJHG, 2004-04, Vol.12 (4), p.333-336

2004

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Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report

BMC medical genetics, 2007-04, Vol.8 (1), p.18-18, Article 18

2007

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Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations

European journal of human genetics : EJHG, 2008-12, Vol.16 (12), p.1487-1498

2008

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ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons

Human molecular genetics, 2015-09, Vol.24 (17), p.4848-4861

2015

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Retinal Pigment Epithelium and Outer Retinal Atrophy (RORA) in Retinitis Pigmentosa: Functional, Structural, and Genetic Evaluation

Translational vision science & technology, 2024-08, Vol.13 (8), p.44

2024

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Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families

Genes, 2020-02, Vol.11 (3), p.248

2020

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Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis

Genes, 2021-11, Vol.12 (12), p.1909

2021

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Bradeion ( SEPT4 ) as a Urinary Marker of Transitional Cell Bladder Cancer: A Real-Time Polymerase Chain Reaction Study of Gene Expression

The Journal of urology, 2012-06, Vol.187 (6), p.2223-2227

2012

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Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype

Genes, 2022-06, Vol.13 (7), p.1161

2022

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Modest reactivation of the mutant FMR1 gene by valproic acid is accompanied by histone modifications but not DNA demethylation

Pharmacogenetics and genomics, 2008-08, Vol.18 (8), p.738-741

2008

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The Pitt-Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria

American journal of medical genetics. Part A, 2011-07, Vol.155A (7), p.1536-1545

2011

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Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family

Human mutation, 2011-11, Vol.32 (11), p.E2294-E2307

2011

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A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy

European journal of human genetics : EJHG, 2008-02, Vol.16 (2), p.209-214

2008

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In Vitro Reactivation of the FMR1 Gene Involved in Fragile X Syndrome

Human molecular genetics, 1998-01, Vol.7 (1), p.109-113

1998

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Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand?

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype

NLRP12 gene mutations and auto-inflammatory diseases: ever-changing evidence

Aldo-Keto Reductase 1C1 ( AKR1C1 ) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema

A next generation sequencing gene panel for use in the diagnosis of anorexia nervosa

Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia

Molecular dissection of the events leading to inactivation of the FMR1 gene

Fragile X syndrome

A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family

Pathogenic variants in SOX11 mimicking Pitt‐Hopkins syndrome phenotype

Expansion to full mutation of a FMR1 intermediate allele over two generations

Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report

Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations

ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons

Retinal Pigment Epithelium and Outer Retinal Atrophy (RORA) in Retinitis Pigmentosa: Functional, Structural, and Genetic Evaluation

Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families

Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis

Bradeion ( SEPT4 ) as a Urinary Marker of Transitional Cell Bladder Cancer: A Real-Time Polymerase Chain Reaction Study of Gene Expression

Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype

Modest reactivation of the mutant FMR1 gene by valproic acid is accompanied by histone modifications but not DNA demethylation

CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations

The Pitt-Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria

Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family

A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy

In Vitro Reactivation of the FMR1 Gene Involved in Fragile X Syndrome

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