Molecular correlates and recent advancements in the diagnosis and screening of FMR1-related disorders

10.3390/genes7100087

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Main Authors:	Rajan-Babu, I.-S, Chong, S.S
Other Authors:	PAEDIATRICS
Format:	Review
Published:	2020
Subjects:	adenine cytosine fragile X mental retardation protein guanine allele ataxia autism DNA flanking region FMR1 gene FMR1 related disorder FMRP antibody test fragile X associated primary ovarian insufficiency fragile X associated tremor ataxia syndrome fragile X syndrome gene mutation genetic association genetic disorder genetic regulation genetic risk genetic screening genomic instability gold standard high risk population human immunoassay intellectual impairment molecular diagnosis molecular genetics molecular pathology mosaicism nonhuman ovary insufficiency phenotype polymerase chain reaction population genetics prevalence protein methylation Review Southern blotting syndrome tremor triplet primed polymerase chain reaction triplet repeat primed polymerase chain reaction vertical transmission X chromosome inactivation
Online Access:	https://scholarbank.nus.edu.sg/handle/10635/173984
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Institution:	National University of Singapore

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spelling	sg-nus-scholar.10635-1739842024-04-24T06:51:41Z Molecular correlates and recent advancements in the diagnosis and screening of FMR1-related disorders Rajan-Babu, I.-S Chong, S.S PAEDIATRICS adenine cytosine fragile X mental retardation protein guanine allele ataxia autism DNA flanking region FMR1 gene FMR1 related disorder FMRP antibody test fragile X associated primary ovarian insufficiency fragile X associated tremor ataxia syndrome fragile X syndrome gene mutation genetic association genetic disorder genetic regulation genetic risk genetic screening genomic instability gold standard high risk population human immunoassay intellectual impairment molecular diagnosis molecular genetics molecular pathology mosaicism nonhuman ovary insufficiency phenotype polymerase chain reaction population genetics prevalence protein methylation Review Southern blotting syndrome tremor triplet primed polymerase chain reaction triplet repeat primed polymerase chain reaction vertical transmission X chromosome inactivation 10.3390/genes7100087 Genes 7 10 87 2020-09-02T06:47:28Z 2020-09-02T06:47:28Z 2016 Review Rajan-Babu, I.-S, Chong, S.S (2016). Molecular correlates and recent advancements in the diagnosis and screening of FMR1-related disorders. Genes 7 (10) : 87. ScholarBank@NUS Repository. https://doi.org/10.3390/genes7100087 20734425 https://scholarbank.nus.edu.sg/handle/10635/173984 Unpaywall 20200831
institution	National University of Singapore
building	NUS Library
continent	Asia
country	Singapore Singapore
content_provider	NUS Library
collection	ScholarBank@NUS
topic	adenine cytosine fragile X mental retardation protein guanine allele ataxia autism DNA flanking region FMR1 gene FMR1 related disorder FMRP antibody test fragile X associated primary ovarian insufficiency fragile X associated tremor ataxia syndrome fragile X syndrome gene mutation genetic association genetic disorder genetic regulation genetic risk genetic screening genomic instability gold standard high risk population human immunoassay intellectual impairment molecular diagnosis molecular genetics molecular pathology mosaicism nonhuman ovary insufficiency phenotype polymerase chain reaction population genetics prevalence protein methylation Review Southern blotting syndrome tremor triplet primed polymerase chain reaction triplet repeat primed polymerase chain reaction vertical transmission X chromosome inactivation
spellingShingle	adenine cytosine fragile X mental retardation protein guanine allele ataxia autism DNA flanking region FMR1 gene FMR1 related disorder FMRP antibody test fragile X associated primary ovarian insufficiency fragile X associated tremor ataxia syndrome fragile X syndrome gene mutation genetic association genetic disorder genetic regulation genetic risk genetic screening genomic instability gold standard high risk population human immunoassay intellectual impairment molecular diagnosis molecular genetics molecular pathology mosaicism nonhuman ovary insufficiency phenotype polymerase chain reaction population genetics prevalence protein methylation Review Southern blotting syndrome tremor triplet primed polymerase chain reaction triplet repeat primed polymerase chain reaction vertical transmission X chromosome inactivation Rajan-Babu, I.-S Chong, S.S Molecular correlates and recent advancements in the diagnosis and screening of FMR1-related disorders
description	10.3390/genes7100087
author2	PAEDIATRICS
author_facet	PAEDIATRICS Rajan-Babu, I.-S Chong, S.S
format	Review
author	Rajan-Babu, I.-S Chong, S.S
author_sort	Rajan-Babu, I.-S
title	Molecular correlates and recent advancements in the diagnosis and screening of FMR1-related disorders
title_short	Molecular correlates and recent advancements in the diagnosis and screening of FMR1-related disorders
title_full	Molecular correlates and recent advancements in the diagnosis and screening of FMR1-related disorders
title_fullStr	Molecular correlates and recent advancements in the diagnosis and screening of FMR1-related disorders
title_full_unstemmed	Molecular correlates and recent advancements in the diagnosis and screening of FMR1-related disorders
title_sort	molecular correlates and recent advancements in the diagnosis and screening of fmr1-related disorders
publishDate	2020
url	https://scholarbank.nus.edu.sg/handle/10635/173984
_version_	1800914204861923328

Molecular correlates and recent advancements in the diagnosis and screening of FMR1-related disorders

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