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Clinical and molecular characteristics of FMR1 microdeletion in patient with fragile X syndrome and review of the literature

Clinica chimica acta, 2024-01, Vol.553, p.117728-117728, Article 117728

2024

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Whole-exome sequencing identifies a novel heterozygous missense variant of the EN2 gene in two unrelated patients with autism spectrum disorder

Psychiatric genetics, 2016-12, Vol.26 (6), p.297-301

2016

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A Case with a Ring Chromosome 13 in a Cohort of 203 Children with Non-Syndromic Autism and Review of the Cytogenetic Literature

Cytogenetic and genome research, 2014-01, Vol.144 (1), p.1-8

2014

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A new structured interview for children with autism spectrum disorder based on the DSM-IV

Journal of the Medical Association of Thailand, 2014-08, Vol.97 Suppl 8, p.S7-14

2014

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Mutation screening of the neurexin 1 gene in thai patients with intellectual disability and autism spectrum disorder

Genetic testing and molecular biomarkers, 2014-07, Vol.18 (7), p.510

2014

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No association of Val158Met variant in the COMT gene with autism spectrum disorder in Thai children

Psychiatric genetics, 2014-10, Vol.24 (5), p.230-231

2014

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Screening of NLGN3 and NLGN4X genes in Thai children with autism spectrum disorder

Psychiatric genetics, 2014-02, Vol.24 (1), p.42-43

2014

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De novo subtelomeric deletion of 15q associated with satellite translocation in a child with developmental delay and severe growth retardation

American journal of medical genetics. Part A, 2007-02, Vol.143A (3), p.271-276

2007

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Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity

European journal of paediatric neurology, 2011-09, Vol.15 (5), p.432-438

2011

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A new method for FMR1 gene methylation screening by multiplex methylation-specific real-time polymerase chain reaction

Genetic testing and molecular biomarkers, 2011-06, Vol.15 (6), p.387

2011

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Mutation screening of the Aristaless-related homeobox ( ARX ) gene in Thai pediatric patients with delayed development: First report from Thailand

European journal of medical genetics, 2007-09, Vol.50 (5), p.346-354

2007

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Multiplex methylation specific PCR analysis of fragile X syndrome: experience in Songklanagarind Hospital

Journal of the Medical Association of Thailand, 2005-08, Vol.88 (8), p.1057-1061

2005

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Prenatal diagnosis of deletion of chromosome 6p presenting with hydrops fetalis

Prenatal diagnosis, 2004-11, Vol.24 (11), p.887-889

2004

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Clinical abnormalities, intervention program, and school attendance of Down syndrome children in southern Thailand

Journal of the Medical Association of Thailand, 2004-10, Vol.87 (10), p.1199-1204

2004

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Familial Dementia with Lewy Bodies with an Atypical Clinical Presentation

Journal of geriatric psychiatry and neurology, 2003-03, Vol.16 (1), p.59-64

2003

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A clinical checklist for fragile X syndrome: screening of Thai boys with developmental delay of unknown cause

Journal of the Medical Association of Thailand, 2000-10, Vol.83 (10), p.1260-1266

2000

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Molecular and linkage studies in autosomal dominant spinocerebellar ataxias

Limprasert, Pornprot

1995

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Familial dementia with Levy bodies with an atypical clinical presentation

Journal of geriatric psychiatry and neurology, 2003, Vol.16 (1), p.59-64

2003

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Comparative studies of the CAG repeats in the spinocerebellar ataxia type 1 (SCA1) gene

American journal of medical genetics, 1997-09, Vol.74 (5), p.488-493

1997

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Prevalence and clinical characteristics of fragile X syndrome at Child development clinic, Ramathibodi Hospital

Journal of the Medical Association of Thailand, 2000, Vol.83 (1), p.69-76

2000

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Familial dementia with lewy bodies: a clinical and neuropathological study of 2 families

Archives of neurology (Chicago), 2002-10, Vol.59 (10), p.1622

2002

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Prenatal diagnosis of deletion of chromosome 6p presenting with hydrops fetalis

Prenatal Diagnosis, 2004, Vol.24 (11), p.887-889

2004

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Unilateral macroorchidism in fragile X syndrome

American journal of medical genetics, 2000-12, Vol.95 (5), p.516-517

2000

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De novo subtelomeric deletion of 15q associated with satellite translocation in a child with developmental delay and severe growth retardation

American Journal of Medical Genetics Part A, 2007, Vol.143A (3), p.271-276

2007

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Polymorphism ofFXR1 showing lack of association with autism

American journal of medical genetics, 1997-07, Vol.74 (4), p.453-454

1997

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Clinical and molecular characteristics of FMR1 microdeletion in patient with fragile X syndrome and review of the literature

Whole-exome sequencing identifies a novel heterozygous missense variant of the EN2 gene in two unrelated patients with autism spectrum disorder

A Case with a Ring Chromosome 13 in a Cohort of 203 Children with Non-Syndromic Autism and Review of the Cytogenetic Literature

A new structured interview for children with autism spectrum disorder based on the DSM-IV

Mutation screening of the neurexin 1 gene in thai patients with intellectual disability and autism spectrum disorder

No association of Val158Met variant in the COMT gene with autism spectrum disorder in Thai children

Screening of NLGN3 and NLGN4X genes in Thai children with autism spectrum disorder

De novo subtelomeric deletion of 15q associated with satellite translocation in a child with developmental delay and severe growth retardation

Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity

A new method for FMR1 gene methylation screening by multiplex methylation-specific real-time polymerase chain reaction

Mutation screening of the Aristaless-related homeobox ( ARX ) gene in Thai pediatric patients with delayed development: First report from Thailand

Multiplex methylation specific PCR analysis of fragile X syndrome: experience in Songklanagarind Hospital

Prenatal diagnosis of deletion of chromosome 6p presenting with hydrops fetalis

Clinical abnormalities, intervention program, and school attendance of Down syndrome children in southern Thailand

Familial Dementia with Lewy Bodies with an Atypical Clinical Presentation

A clinical checklist for fragile X syndrome: screening of Thai boys with developmental delay of unknown cause

Molecular and linkage studies in autosomal dominant spinocerebellar ataxias

Familial dementia with Levy bodies with an atypical clinical presentation

Comparative studies of the CAG repeats in the spinocerebellar ataxia type 1 (SCA1) gene

Prevalence and clinical characteristics of fragile X syndrome at Child development clinic, Ramathibodi Hospital

Familial dementia with lewy bodies: a clinical and neuropathological study of 2 families

Prenatal diagnosis of deletion of chromosome 6p presenting with hydrops fetalis

Unilateral macroorchidism in fragile X syndrome

De novo subtelomeric deletion of 15q associated with satellite translocation in a child with developmental delay and severe growth retardation

Polymorphism ofFXR1 showing lack of association with autism

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