Fragile X Associated Primary Ovarian Insufficiency (FXPOI): Case Report and Literature Review

Using a meta-narrative literature review and focus groups with key stakeholders to identify perceived challenges and solutions for generating robust evidence on the effectiveness of treatments for rare diseases

(2018) Kylie Tingley et al.   Orphanet Journal of Rare Diseases

FXPOI: Pattern of AGG Interruptions Does not Show an Association With Age at Amenorrhea Among Women With a Premutation

(2018) Emily G. Allen et al.   Frontiers in Genetics

Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome

(2017) Chantal Sellier et al.   NEURON

Quantifying growing versus non-growing ovarian follicles in the mouse

(2017) Bahar Uslu et al.   Journal of Ovarian Research

Plasma metabolic profile delineates roles for neurodegeneration, pro-inflammatory damage and mitochondrial dysfunction in the FMR1 premutation

(2016) C. Giulivi et al.   BIOCHEMICAL JOURNAL

Improving care delivery and outcomes in pediatric rheumatic diseases

(2016) Julia G. Harris et al.   CURRENT OPINION IN RHEUMATOLOGY

Hormone replacement therapy in young women with primary ovarian insufficiency and early menopause

(2016) Shannon D. Sullivan et al.   FERTILITY AND STERILITY

Hormone Replacement Therapy Versus the Combined Oral Contraceptive Pill in Premature Ovarian Failure: A Randomized Controlled Trial of the Effects on Bone Mineral Density

(2016) Beth Cartwright et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Reproductive and gynecologic care of women with fragile X primary ovarian insufficiency (FXPOI)

(2016) Heather S. Hipp et al.   MENOPAUSE-THE JOURNAL OF THE NORTH AMERICAN MENOPAUSE SOCIETY

Granulosa cell and oocyte mitochondrial abnormalities in a mouse model of fragile X primary ovarian insufficiency

(2016) Carola Conca Dioguardi et al.   MOLECULAR HUMAN REPRODUCTION

Impaired Mitochondrial Function and Dynamics in the Pathogenesis of FXTAS

(2016) M. I. Alvarez-Mora et al.   MOLECULAR NEUROBIOLOGY

Reactivation of FMR1 by CRISPR/Cas9-Mediated Deletion of the Expanded CGG-Repeat of the Fragile X Chromosome

(2016) Nina Xie et al.   PLoS One

Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency

(2015) R.A.M. Buijsen et al.   HUMAN REPRODUCTION

Epidemiology of fragile X syndrome: A systematic review and meta-analysis

(2014) Jessica Hunter et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers

(2014) Sarah L. Nolin et al.   GENETICS IN MEDICINE

Bone Mineral Density in Young Women With Primary Ovarian Insufficiency: Results of a Three-Year Randomized Controlled Trial of Physiological Transdermal Estradiol and Testosterone Replacement

(2014) Vaishali B. Popat et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Associated features in females with an FMR1 premutation

(2014) Anne C Wheeler et al.   Journal of Neurodevelopmental Disorders

Repeat-Associated Non-AUG Translation and Its Impact in Neurodegenerative Disease

(2014) Michael G. Kearse et al.   Neurotherapeutics

Elevated Levels of FMR1 mRNA in Granulosa Cells Are Associated with Low Ovarian Reserve in FMR1 Premutation Carriers

(2014) Shai E. Elizur et al.   PLoS One

The role of AGG interruptions in fragile X repeat expansions: a twenty-year perspective

(2014) Gary J. Latham et al.   Frontiers in Genetics

The FMR1 gene, infertility, and reproductive decision-making: a review

(2014) Lisa M. Pastore et al.   Frontiers in Genetics

Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles

(2013) Sarah L. Nolin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics

(2013) Kristin G. Monaghan et al.   GENETICS IN MEDICINE

Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions

(2013) Carolyn M Yrigollen et al.   JOURNAL OF HUMAN GENETICS

Multiplex Genome Engineering Using CRISPR/Cas Systems

(2013) L. Cong et al.   SCIENCE

Prevalence of CGG expansions of the FMR1 gene in a US population-based sample

(2012) Marsha Mailick Seltzer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Comparison of cervical mucus of 24/4 vs. 21/7 combined oral contraceptives

(2012) Rachel Steward et al.   CONTRACEPTION

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

Fragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice

(2012) Cuiling Lu et al.   HUMAN MOLECULAR GENETICS

Ovarian Abnormalities in a Mouse Model of Fragile X Primary Ovarian Insufficiency

(2012) Gloria E. Hoffman et al.   JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY

A New Approach to Primary Ovarian Insufficiency

(2012) Saima Rafique et al.   OBSTETRICS AND GYNECOLOGY CLINICS OF NORTH AMERICA

Predictors and risk model development for menopausal age in fragile X premutation carriers

(2011) Marian A Spath et al.   GENETICS IN MEDICINE

Ovarian histopathological and ubiquitin-immunophenotypic features in fragile X-associated primary ovarian insufficiency: a study of five cases and selected controls

(2011) Martin C Chang et al.   HISTOPATHOLOGY

A Family Systems Approach to Primary Ovarian Insufficiency

(2011) Sharon N. Covington et al.   Journal of Pediatric and Adolescent Gynecology

Fragile X analysis of 1112 prenatal samples from 1991 to 2010

(2011) Sarah L. Nolin et al.   PRENATAL DIAGNOSIS

FMR1 and the Continuum of Primary Ovarian Insufficiency

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

Age of menopause and impact of climacteric symptoms by geographical region

(2010) S. Palacios et al.   CLIMACTERIC

A Novel FMR1 PCR Method for the Routine Detection of Low Abundance Expanded Alleles and Full Mutations in Fragile X Syndrome

(2010) S. Filipovic-Sadic et al.   CLINICAL CHEMISTRY

FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: Insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States

(2010) Feras M Hantash et al.   GENETICS IN MEDICINE

A systematic review of population screening for fragile X syndrome

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

Depression in Women with Spontaneous 46, XX Primary Ovarian Insufficiency

(2010) Peter J. Schmidt et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

An Information-Rich CGG Repeat Primed PCR That Detects the Full Range of Fragile X Expanded Alleles and Minimizes the Need for Southern Blot Analysis

(2010) Liangjing Chen et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

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

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

Cardiovascular Effects of Physiological and Standard Sex Steroid Replacement Regimens in Premature Ovarian Failure

(2009) Jeremy P. Langrish et al.   HYPERTENSION

Primary Ovarian Insufficiency

(2009) Lawrence M. Nelson   NEW ENGLAND JOURNAL OF MEDICINE

Reproductive Health of Adolescent Girls Who Carry the FMR1 Premutation

(2008) John J. De Caro et al.   Annals of the New York Academy of Sciences

The Menstrual Cycle

(2008) Shannon M. Hawkins et al.   Annals of the New York Academy of Sciences

Intermediate and premutation FMR1 alleles in women with occult primary ovarian insufficiency

(2008) Isabelle Streuli et al.   FERTILITY AND STERILITY

Fragile X-associated primary ovarian insufficiency: evidence for additional genetic contributions to severity

(2008) Jessica Ezzell Hunter et al.   GENETIC EPIDEMIOLOGY

Analysis of the molecular parameters that could predict the risk of manifesting premature ovarian failure in female premutation carriers of fragile X syndrome

(2008) Maria-Isabel Tejada et al.   MENOPAUSE-THE JOURNAL OF THE NORTH AMERICAN MENOPAUSE SOCIETY

Normalization of serum luteinizing hormone levels in women with 46,XX spontaneous primary ovarian insufficiency

(2007) Vaishali B. Popat et al.   FERTILITY AND STERILITY

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