Newborn screening and cascade testing forFMR1mutations

Hypertension inFMR1premutation males with and without fragile X-associated tremor/ataxia syndrome (FXTAS)

(2012) Alyssa A. Hamlin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS

(2012) F. Tassone et al.   GENES BRAIN AND BEHAVIOR

AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome

(2012) Carolyn M. Yrigollen et al.   GENETICS IN MEDICINE

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

(2012) Zhengyu Cao et al.   HUMAN MOLECULAR GENETICS

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

Sleep apnea in fragile X premutation carriers with and without FXTAS

(2011) Alyssa Hamlin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Decreased Fragile X Mental Retardation Protein Expression Underlies Amygdala Dysfunction in Carriers of the Fragile X Premutation

(2011) David Hessl et al.   BIOLOGICAL PSYCHIATRY

Adult Female Fragile X Premutation Carriers Exhibit Age- and CGG Repeat Length-Related Impairments on an Attentionally Based Enumeration Task

(2011) Naomi J. Goodrich-Hunsaker et al.   Frontiers in Human Neuroscience

High-resolution methylation polymerase chain reaction for fragile X analysis: Evidence for novel FMR1 methylation patterns undetected in Southern blot analyses

(2011) Liangjing Chen 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

Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome

(2011) Eleonora Napoli et al.   HUMAN MOLECULAR GENETICS

The Role of AGG Interruptions in the Transcription of FMR1 Premutation Alleles

(2011) Carolyn M. Yrigollen et al.   PLoS One

Fibromyalgia in fragile X mental retardation 1 gene premutation carriers

(2011) M. A. Leehey et al.   RHEUMATOLOGY

Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056

(2011) S. Jacquemont et al.   Science Translational Medicine

FMR1 and the Continuum of Primary Ovarian Insufficiency

(2011) Shannon Sullivan et al.   SEMINARS IN REPRODUCTIVE MEDICINE

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

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

Open-label add-on treatment trial of minocycline in fragile X syndrome

(2010) Carlo Paribello et al.   BMC Neurology

Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome

(2010) W Chonchaiya et al.   CLINICAL GENETICS

Lifetime Prevalence of Mood and Anxiety Disorders in Fragile X Premutation Carriers

(2010) James A. Bourgeois et al.   JOURNAL OF CLINICAL PSYCHIATRY

Early onset of neurological symptoms in fragile X premutation carriers exposed to neurotoxins

(2010) Ripon Paul et al.   NEUROTOXICOLOGY

Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 DNA

(2009) Bradford Coffee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families

(2009) Laia Rodriguez-Revenga et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A model for offering carrier screening for fragile X syndrome to nonpregnant women: results from a pilot study

(2009) Sylvia Metcalfe et al.   GENETICS IN MEDICINE

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

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

A pilot open label, single dose trial of fenobam in adults with fragile X syndrome

(2009) E Berry-Kravis et al.   JOURNAL OF MEDICAL GENETICS

Screening for Expanded Alleles of the FMR1 Gene in Blood Spots from Newborn Males in a Spanish Population

(2009) Isabel Fernandez-Carvajal et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Protective effects of melatonin against oxidative stress in Fmr1 knockout mice: a therapeutic research model for the fragile X syndrome

(2009) Yanina Romero-Zerbo et al.   JOURNAL OF PINEAL RESEARCH

No Change in the Age of Diagnosis for Fragile X Syndrome: Findings From a National Parent Survey

(2009) D. B. Bailey et al.   PEDIATRICS

Fragile X syndrome with anxiety disorder and exceptional verbal intelligence

(2008) Kathleen Angkustsiri et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Child and genetic variables associated with maternal adaptation to fragile X syndrome: A multidimensional analysis

(2008) Donald B. Bailey et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Expanded clinical phenotype of women with theFMR1 premutation

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

Co-occurring conditions associated withFMR1gene variations: Findings from a national parent survey

(2008) Donald B. Bailey et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mood and anxiety disorders in females with the FMR1 premutation

(2008) Jane E. Roberts et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

α-Tocopherol Protects Against Oxidative Stress in the Fragile X Knockout Mouse: an Experimental Therapeutic Approach for the Fmr1 Deficiency

(2008) Yolanda de Diego-Otero et al.   NEUROPSYCHOPHARMACOLOGY

Ethical, Legal, and Social Concerns About Expanded Newborn Screening: Fragile X Syndrome as a Prototype for Emerging Issues

(2008) D. B. Bailey et al.   PEDIATRICS

A Rapid Polymerase Chain Reaction-Based Screening Method for Identification of All Expanded Alleles of the Fragile X (FMR1) Gene in Newborn and High-Risk Populations

(2007) Flora Tassone et al.   JOURNAL OF MOLECULAR DIAGNOSTICS