Claudine Kraan

DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome

Claudine M Kraan, Emma K Baker, Marta Arpone, Minh Bui, Ling Ling, Dinusha Gamage, Lesley Bretherton, Carolyn Rogers, Michael J Field, Tiffany L Wotton, David Francis, Matt F Hunter, Jonathan Cohen, David J Amor, David E Godler

Journal article  |  2020  |  INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Fragile X syndrome (FXS) is a leading single-gene cause of intellectual disability (ID) with autism features. This study analysed ..

FMR1 mRNA from full mutation alleles is associated with ABC-C-FX scores in males with fragile X syndrome

Emma K Baker, Marta Arpone, Claudine Kraan, Bui Minh, Carolyn Rogers, Michael Field, Lesley Bretherton, Ling Ling, Alexandra Ure, Jonathan Cohen, Matthew F Hunter, Lorena Santa Maria, Victor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas, Angelica Alliende, David J Amor, David E Godler

Journal article  |  2020  |  SCIENTIFIC REPORTS

Fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with ≥ 200 CGG repeats, and a decrease in FMR..

Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome

Emma K Baker, Marta Arpone, Solange Aliaga Vera, Lesley Bretherton, Alexandra Ure, Claudine M Kraan, Minh Bui, Ling Ling, David Francis, Matthew F Hunter, Justine Elliott, Carolyn Rogers, Michael J Field, Jonathan Cohen, Lorena Santa Maria, Victor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas, et al.

Journal article  |  2019  |  JOURNAL OF NEURODEVELOPMENTAL DISORDERS

BACKGROUND: Fragile X syndrome (FXS) is a common cause of intellectual disability and autism spectrum disorder (ASD) usually assoc..

Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features

Emma K Baker, Marta Arpone, Solange M Aliaga, Lesley Bretherton, Claudine M Kraan, Bui Minh, Howard R Slater, Ling Ling, David Francis, Matthew F Hunter, Justine Elliott, Carolyn Rogers, Michael Field, Jonathan Cohen, Kim Cornish, Lorena Santa Maria, Victor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, et al.

Journal article  |  2019  |  MOLECULAR AUTISM

Background: Fragile X syndrome (FXS) is a common monogenic cause of intellectual disability with autism features. While it is caus..

Epigenetics of fragile X syndrome and fragile X-related disorders

Claudine M Kraan, David E Godler, David J Amor

Journal article  |  2019  |  DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

The fragile X mental retardation 1 gene (FMR1)-related disorder fragile X syndrome (FXS) is the most common heritable form of cogn..

FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts

Claudine M Kraan, Quang M Bui, Mike Field, Alison D Archibald, Sylvia A Metcalfe, Louise M Christie, Bruce H Bennetts, Ralph Oertel, Melanie J Smith, Desiree du Sart, Damien Bruno, Tiffany L Wotton, David J Amor, David Francis, David E Godler

Journal article  |  2018  |  GENETICS IN MEDICINE

PURPOSE: Developmental delay phenotypes have been associated with FMR1 premutation (PM: 55-200 CGG repeats) and "gray zone" (GZ: 4..

FMRI ALLELE SIZE DISTRIBUTION IN 35 000 MALES AND FEMALES: A COMPARISON OF DEVELOPMENTAL DELAY AND GENERAL POPULATION COHORTS

CM Kraan, QM Bui, M Field, AD Archibald, SM Metcalfe, BH Bennetts, TL Wotton, DJ Amor, D Francis, DE Godler

Conference Proceedings  |  2018  |  JOURNAL OF INTELLECTUAL DISABILITY RESEARCH

FMR1 MRNA IN BLOOD AS A PREDICTOR OF INTELLECTUAL FUNCTIONING AND AUTISM SEVERITY IN FRAGILE X SYNDROME: IS THERE A DIFFERENCE BETWEEN SEXES?

EK Baker, M Arpone, S Aliaga, L Bretherton, M Bui, C Kraan, A Alliende, C Rogers, DJ Amor, DE Godler

Conference Proceedings  |  2018  |  JOURNAL OF INTELLECTUAL DISABILITY RESEARCH

beta-glucuronidase use as a single internal control gene may confound analysis in FMR1 mRNA toxicity studies

Claudine M Kraan, Kim M Cornish, Quang M Bui, Xin Li, Howard R Slater, David E Godler

Journal article  |  2018  |  PLOS ONE

Relationships between Fragile X Mental Retardation 1 (FMR1) mRNA levels in blood and intragenic FMR1 CGG triplet expansions suppor..

The developmental dynamics of gait maturation with a focus on spatiotemporal measures

CM Kraan, AHJ Tan, KM Cornish

Journal article  |  2017  |  GAIT & POSTURE

Gait analysis is recognised as a powerful clinical tool for studying relationships between motor control and brain function. By dr..