Global transcriptome dysregulation in second trimester fetuses withFMR1expansions

The pathway not taken: understanding ‘omics data in the perinatal context

(2015) Andrea G. Edlow et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Fragile X-associated tremor/ataxia syndrome

(2015) Paul J. Hagerman et al.   Annals of the New York Academy of Sciences

Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors

(2015) B. G. Ng et al.   HUMAN MOLECULAR GENETICS

The Amniotic Fluid Transcriptome as a Guide to Understanding Fetal Disease

(2015) L. M. Zwemer et al.   Cold Spring Harbor Perspectives in Medicine

DFLAT: functional annotation for human development

(2014) Heather C Wick et al.   BMC BIOINFORMATICS

Amniotic fluid RNA gene expression profiling provides insights into the phenotype of Turner syndrome

(2014) Lauren J. Massingham et al.   HUMAN GENETICS

Visual motion processing deficits in infants with the fragile X premutation

(2014) Pamela K Gallego et al.   Journal of Neurodevelopmental Disorders

Quantitative Phosphoproteomics of Murine Fmr1-KO Cell Lines Provides New Insights into FMRP-Dependent Signal Transduction Mechanisms

(2014) Katarina Matic et al.   JOURNAL OF PROTEOME RESEARCH

Subcellular Fractionation and Localization Studies Reveal a Direct Interaction of the Fragile X Mental Retardation Protein (FMRP) with Nucleolin

(2014) Mohamed S. Taha et al.   PLoS One

Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms

(2013) Paul Hagerman   ACTA NEUROPATHOLOGICA

Overexpression of Down syndrome cell adhesion molecule impairs precise synaptic targeting

(2013) Vedrana Cvetkovska et al.   NATURE NEUROSCIENCE

Intranuclear inclusions in a fragile X mosaic male

(2013) Dalyir I Pretto et al.   Translational Neurodegeneration

Novel neurodevelopmental information revealed in amniotic fluid supernatant transcripts from fetuses with trisomies 18 and 21

(2012) Lisa Hui et al.   HUMAN GENETICS

Clustered burst firing in FMR1 premutation hippocampal neurons: amelioration with allopregnanolone

(2012) Zhengyu Cao et al.   HUMAN MOLECULAR GENETICS

Somatic Expansion in Mouse and Human Carriers of Fragile X Premutation Alleles

(2012) Rachel Adihe Lokanga et al.   HUMAN MUTATION

Early mitochondrial abnormalities in hippocampal neurons cultured fromFmr1pre-mutation mouse model

(2012) Eitan S. Kaplan et al.   JOURNAL OF NEUROCHEMISTRY

FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States

(2012) Flora Tassone et al.   Genome Medicine

Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice

(2011) Michael R. Hunsaker et al.   ACTA NEUROPATHOLOGICA

FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism

(2011) Jennifer C. Darnell et al.   CELL

Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism

(2011) Danuta Z Loesch et al.   GENETICS IN MEDICINE

Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder

(2011) Weerasak Chonchaiya et al.   HUMAN GENETICS

Direct Membrane Association Drives Mitochondrial Fission by the Parkinson Disease-associated Protein α-Synuclein

(2011) Ken Nakamura et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Amniotic Fluid Transcriptome

(2011) Lisa Hui et al.   OBSTETRICS AND GYNECOLOGY

Comparison of extraction techniques for amniotic fluid supernatant demonstrates improved yield of cell-free fetal RNA

(2011) Jessica A. Dietz et al.   PRENATAL DIAGNOSIS

The behavioral phenotype of FMR1 mutations

(2010) Lia Boyle et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome

(2010) Catherine Ross-Inta et al.   BIOCHEMICAL JOURNAL

The Angelman Syndrome Protein Ube3A Regulates Synapse Development by Ubiquitinating Arc

(2010) Paul L. Greer et al.   CELL

Differential Modeling of Fragile X Syndrome by Human Embryonic Stem Cells and Induced Pluripotent Stem Cells

(2010) Achia Urbach et al.   Cell Stem Cell

A systematic review of population screening for fragile X syndrome

(2010) Melissa K Hill et al.   GENETICS IN MEDICINE

Autoimmune disease in mothers with the FMR1 premutation is associated with seizures in their children with fragile X syndrome

(2010) Weerasak Chonchaiya et al.   HUMAN GENETICS

Transcriptomic analysis of cell-free fetal RNA suggests a specific molecular phenotype in trisomy 18

(2010) Keiko Koide et al.   HUMAN GENETICS

Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development

(2010) Christopher L. Cunningham et al.   HUMAN MOLECULAR GENETICS

Advances in understanding the molecular basis of FXTAS

(2010) D. Garcia-Arocena et al.   HUMAN MOLECULAR GENETICS

Drosophila FMRP regulates microtubule network formation and axonal transport of mitochondria

(2010) Aiyu Yao et al.   HUMAN MOLECULAR GENETICS

The fragile X mental retardation protein developmentally regulates the strength and fidelity of calcium signaling in Drosophila mushroom body neurons

(2010) Charles R. Tessier et al.   NEUROBIOLOGY OF DISEASE

Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration

(2009) Y. Chen et al.   HUMAN MOLECULAR GENETICS

Interactions between the endoplasmic reticulum, mitochondria, plasma membrane and other subcellular organelles

(2009) Magdalena Lebiedzinska et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease

(2009) Minerva M Carrasquillo et al.   NATURE GENETICS

Functional genomic analysis of amniotic fluid cell-free mRNA suggests that oxidative stress is significant in Down syndrome fetuses

(2009) D. K. Slonim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Disruption of Neurexin 1 Associated with Autism Spectrum Disorder

(2008) Hyung-Goo Kim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Expanded clinical phenotype of women with theFMR1 premutation

(2008) Sarah M. Coffey et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A Direct Role for FMRP in Activity-Dependent Dendritic mRNA Transport Links Filopodial-Spine Morphogenesis to Fragile X Syndrome

(2008) Jason B. Dictenberg et al.   DEVELOPMENTAL CELL

Absence seizures in C3H/HeJ and knockout mice caused by mutation of the AMPA receptor subunit Gria4

(2008) Barbara Beyer et al.   HUMAN MOLECULAR GENETICS

Neurexin 1α structural variants associated with autism

(2008) Jin Yan et al.   NEUROSCIENCE LETTERS

Primary ovarian insufficiency: a more accurate term for premature ovarian failure

(2007) Corrine K. Welt   CLINICAL ENDOCRINOLOGY

β-Ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems

(2007) J. Yaplito-Lee et al.   MOLECULAR GENETICS AND METABOLISM