The FMR1 premutation and reproduction.

Clinical practice. Primary ovarian insufficiency. N Engl J Med (2009) 4.01

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. J Mol Diagn (2007) 3.80

The time is now for a new approach to primary ovarian insufficiency. Fertil Steril (2010) 3.15

Advances in the treatment of fragile X syndrome. Pediatrics (2009) 3.10

Expanded clinical phenotype of women with the FMR1 premutation. Am J Med Genet A (2008) 2.91

Sequencing the unsequenceable: expanded CGG-repeat alleles of the fragile X gene. Genome Res (2012) 2.04

Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration. Hum Mol Genet (2010) 1.95

Advances in understanding the molecular basis of FXTAS. Hum Mol Genet (2010) 1.83

FMR1: a gene with three faces. Biochim Biophys Acta (2009) 1.77

Association of FMR1 genotypes with in vitro fertilization (IVF) outcomes based on ethnicity/race. PLoS One (2011) 1.60

Fragile X and autism: Intertwined at the molecular level leading to targeted treatments. Mol Autism (2010) 1.57

Defining ovarian reserve to better understand ovarian aging. Reprod Biol Endocrinol (2011) 1.47

Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms. Acta Neuropathol (2013) 1.41

Triple repeat diseases and unstable gonadal function. Fertil Steril (2007) 1.38

NOBOX homeobox mutation causes premature ovarian failure. Am J Hum Genet (2007) 1.37

The FMR1 gene and fragile X-associated tremor/ataxia syndrome. Am J Med Genet B Neuropsychiatr Genet (2009) 1.37

A quantitative ELISA assay for the fragile x mental retardation 1 protein. J Mol Diagn (2009) 1.33

Fragile X: leading the way for targeted treatments in autism. Neurotherapeutics (2010) 1.31

Fragile X: a family of disorders. Adv Pediatr (2009) 1.30

No evidence for a difference in neuropsychological profile among carriers and noncarriers of the FMR1 premutation in adults under the age of 50. Am J Hum Genet (2008) 1.29

Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment. J Investig Med (2009) 1.27

FMR1 genotype with autoimmunity-associated polycystic ovary-like phenotype and decreased pregnancy chance. PLoS One (2010) 1.26

Transcription factor FIGLA is mutated in patients with premature ovarian failure. Am J Hum Genet (2008) 1.20

Clustered burst firing in FMR1 premutation hippocampal neurons: amelioration with allopregnanolone. Hum Mol Genet (2012) 1.15

Fibroblast phenotype in male carriers of FMR1 premutation alleles. Hum Mol Genet (2009) 1.11

Clinical significance of tri-nucleotide repeats in Fragile X testing: a clarification of American College of Medical Genetics guidelines. Genet Med (2008) 1.08

BRCA1/2 mutations appear embryo-lethal unless rescued by low (CGG n<26) FMR1 sub-genotypes: explanation for the "BRCA paradox"? PLoS One (2012) 1.07

Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome. Clin Genet (2010) 1.04

The impact in older women of ovarian FMR1 genotypes and sub-genotypes on ovarian reserve. PLoS One (2012) 1.02

The FMR1 gene, infertility, and reproductive decision-making: a review. Front Genet (2014) 1.02

Rare intranuclear inclusions in the brains of 3 older adult males with fragile x syndrome: implications for the spectrum of fragile x-associated disorders. J Neuropathol Exp Neurol (2011) 1.00

Daily health symptoms of mothers of adolescents and adults with fragile x syndrome and mothers of adolescents and adults with autism spectrum disorder. J Autism Dev Disord (2012) 0.99

The clinical content of preconception care: genetics and genomics. Am J Obstet Gynecol (2008) 0.98

The role of AGG interruptions in the transcription of FMR1 premutation alleles. PLoS One (2011) 0.97

Contemporary genetic technologies and female reproduction. Hum Reprod Update (2011) 0.95

Broad clinical involvement in a family affected by the fragile X premutation. J Dev Behav Pediatr (2009) 0.94

Prevalence and risk of migraine headaches in adult fragile X premutation carriers. Clin Genet (2013) 0.93

A new approach to primary ovarian insufficiency. Obstet Gynecol Clin North Am (2012) 0.91

Curvilinear association of CGG repeats and age at menopause in women with FMR1 premutation expansions. Am J Med Genet B Neuropsychiatr Genet (2014) 0.91

FMR1-dependent variability of ovarian aging patterns is already apparent in young oocyte donors. Reprod Biol Endocrinol (2013) 0.90

Genetics of primary ovarian insufficiency: new developments and opportunities. Hum Reprod Update (2015) 0.89

Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI). J Neurodev Disord (2014) 0.88

High-Throughput Screening to Identify Compounds That Increase Fragile X Mental Retardation Protein Expression in Neural Stem Cells Differentiated From Fragile X Syndrome Patient-Derived Induced Pluripotent Stem Cells. Stem Cells Transl Med (2015) 0.87

Clinical phenotypes of a juvenile sibling pair carrying the fragile X premutation. Am J Med Genet A (2011) 0.86

EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders. Eur J Hum Genet (2014) 0.86

Genetics of primary ovarian insufficiency: a review. J Assist Reprod Genet (2014) 0.85

Unstable mutations in the FMR1 gene and the phenotypes. Adv Exp Med Biol (2012) 0.84

How the FMR1 gene became relevant to female fertility and reproductive medicine. Front Genet (2014) 0.83

Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency. Eur J Hum Genet (2011) 0.83

Intermediate CGG repeat length at the FMR1 locus is not associated with hormonal indicators of ovarian age. Menopause (2014) 0.83

The Bologna criteria for poor ovarian response: a contemporary critical appraisal. J Ovarian Res (2015) 0.83

KHDC1B is a novel CPEB binding partner specifically expressed in mouse oocytes and early embryos. Mol Biol Cell (2010) 0.83

The importance of redundancy of functional ovarian reserve when investigating potential genetic effects on ovarian function. J Assist Reprod Genet (2016) 0.83

Identification of a duplication within the GDF9 gene and novel candidate genes for primary ovarian insufficiency (POI) by a customized high-resolution array comparative genomic hybridization platform. Hum Reprod (2014) 0.82

Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders. Front Genet (2014) 0.82

The impact of FMR1 gene mutations on human reproduction and development: a systematic review. J Assist Reprod Genet (2016) 0.82

Molecular Advances Leading to Treatment Implications for Fragile X Premutation Carriers. Brain Disord Ther (2014) 0.81

Elevated levels of FMR1 mRNA in granulosa cells are associated with low ovarian reserve in FMR1 premutation carriers. PLoS One (2014) 0.80

Germ cell-specific Atg7 knockout results in primary ovarian insufficiency in female mice. Cell Death Dis (2015) 0.80

Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain. Biomed Res Int (2014) 0.80

Understanding decreased fertility in women carriers of the FMR1 premutation: a possible mechanism for Fragile X-Associated Primary Ovarian Insufficiency (FXPOI). Reprod Health (2014) 0.80

Molecular cytogenetic analysis of Xq critical regions in premature ovarian failure. Mol Cytogenet (2013) 0.80

CSB-PGBD3 Mutations Cause Premature Ovarian Failure. PLoS Genet (2015) 0.79

Evidence of an age-related correlation of ovarian reserve and FMR1 repeat number among women with "normal" CGG repeat status. J Assist Reprod Genet (2015) 0.79

Longitudinal interviews of couples diagnosed with diminished ovarian reserve undergoing fragile X premutation testing. J Genet Couns (2013) 0.78

Dynamics of the ovarian reserve and impact of genetic and epidemiological factors on age of menopause. Biol Reprod (2015) 0.78

Towards an Understanding of Neuropsychiatric Manifestations in Fragile X Premutation Carriers. Future Neurol (2014) 0.78

Identification of expanded alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) study. J Autism Dev Disord (2013) 0.78

From victim to survivor to thriver: helping women with primary ovarian insufficiency integrate recovery, self-management, and wellness. Semin Reprod Med (2011) 0.77

Analysis of LHX8 mutation in premature ovarian failure. Fertil Steril (2007) 0.77

Broad autism spectrum and obsessive-compulsive symptoms in adults with the fragile X premutation. Clin Neuropsychol (2016) 0.77

Early menopause: A hazard to a woman's health. Indian J Med Res (2016) 0.76

Pragmatic Language in autism and fragile X syndrome: Genetic and clinical applications. Perspect Lang Learn Educ (2012) 0.76

Trisomic pregnancy and intermediate CGG repeat length at the FMR1 locus. Hum Reprod (2012) 0.76

The role of genetic and autoimmune factors in premature ovarian failure. J Assist Reprod Genet (2013) 0.76

Association of skewed X-chromosome inactivation with FMR1 CGG repeat length and anti-Mullerian hormone levels: a cohort study. Reprod Biol Endocrinol (2017) 0.75

FMR1 premutation is an uncommon explanation for premature ovarian failure in Han Chinese. PLoS One (2014) 0.75

Improving Health Education for Women Who Carry an FMR1 Premutation. J Genet Couns (2015) 0.75

Towards a Better Molecular Diagnosis of FMR1-Related Disorders-A Multiyear Experience from a Reference Lab. Genes (Basel) (2016) 0.75

A clinical research integration special program (CRISP) for young women with primary ovarian insufficiency. Panminerva Med (2014) 0.75

"It gives them more options": preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare. J Community Genet (2016) 0.75

Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene. Genes (Basel) (2016) 0.75

Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation. Mol Cytogenet (2015) 0.75

Endocrine Dysfunction in Female FMR1 Premutation Carriers: Characteristics and Association with Ill Health. Genes (Basel) (2016) 0.75

Fragile X premutation in women: recognizing the health challenges beyond primary ovarian insufficiency. J Assist Reprod Genet (2016) 0.75

Expression of an expanded CGG-repeat RNA in a single pair of primary sensory neurons impairs olfactory adaptation in Caenorhabditis elegans. Hum Mol Genet (2014) 0.75

Precision reproductive medicine: multigene panel testing for infertility risk assessment. J Assist Reprod Genet (2017) 0.75

Fragile X-Associated Diminished Ovarian Reserve and Primary Ovarian Insufficiency from Molecular Mechanisms to Clinical Manifestations. Front Mol Neurosci (2017) 0.75

Preventing preterm births: analysis of trends and potential reductions with interventions in 39 countries with very high human development index. Lancet (2012) 6.33

Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet (2003) 5.51

Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med (2012) 4.97

Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA (2004) 4.88

First-trimester screening for trisomies 21 and 18. N Engl J Med (2003) 4.47

The fragile-X premutation: a maturing perspective. Am J Hum Genet (2004) 3.89

Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056. Sci Transl Med (2011) 3.46

The time is now for a new approach to primary ovarian insufficiency. Fertil Steril (2010) 3.15

Expanded clinical phenotype of women with the FMR1 premutation. Am J Med Genet A (2008) 2.91

Consensus on women's health aspects of polycystic ovary syndrome (PCOS): the Amsterdam ESHRE/ASRM-Sponsored 3rd PCOS Consensus Workshop Group. Fertil Steril (2011) 2.80

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet (2003) 2.71

Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. Mov Disord (2007) 2.68

Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. AJNR Am J Neuroradiol (2002) 2.58

Effects of STX209 (arbaclofen) on neurobehavioral function in children and adults with fragile X syndrome: a randomized, controlled, phase 2 trial. Sci Transl Med (2012) 2.51

Diagnosis and treatment of polycystic ovary syndrome: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab (2013) 2.43

Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation. Am J Med Genet B Neuropsychiatr Genet (2005) 2.35

Autism profiles of males with fragile X syndrome. Am J Ment Retard (2008) 2.35

Executive summary of the Stages of Reproductive Aging Workshop + 10: addressing the unfinished agenda of staging reproductive aging. J Clin Endocrinol Metab (2012) 2.25

An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals. Hum Mol Genet (2007) 2.25

Research agenda for preterm birth: recommendations from the March of Dimes. Am J Obstet Gynecol (2005) 2.21

Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet (2009) 2.12

Genetic analysis of variation in human meiotic recombination. PLoS Genet (2009) 2.11

Age-dependent cognitive changes in carriers of the fragile X syndrome. Cortex (2007) 2.10

Intact fetal cells in maternal plasma: are they really there? Lancet (2003) 2.09

Prevalence of the fragile X syndrome in African-Americans. Am J Med Genet (2002) 2.07

Phenotypic variation and FMRP levels in fragile X. Ment Retard Dev Disabil Res Rev (2004) 2.07

Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations. RNA (2002) 2.06

Sequencing the unsequenceable: expanded CGG-repeat alleles of the fragile X gene. Genome Res (2012) 2.04

The Prader-Willi phenotype of fragile X syndrome. J Dev Behav Pediatr (2007) 2.02

Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. Lancet Neurol (2007) 2.00

A review of fragile X premutation disorders: expanding the psychiatric perspective. J Clin Psychiatry (2009) 1.98

Infertility, assisted reproductive technology, and adverse pregnancy outcomes: executive summary of a National Institute of Child Health and Human Development workshop. Obstet Gynecol (2007) 1.97

Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration. Hum Mol Genet (2010) 1.95

A study of the distributional characteristics of FMR1 transcript levels in 238 individuals. Hum Genet (2004) 1.88

Preimplantation genetic diagnosis reduces pregnancy loss in women aged 35 years and older with a history of recurrent miscarriages. Fertil Steril (2005) 1.83

Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure. J Clin Endocrinol Metab (2006) 1.81

Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia. J Clin Psychiatry (2006) 1.80

Lifetime prevalence of mood and anxiety disorders in fragile X premutation carriers. J Clin Psychiatry (2010) 1.79

Over a decade of experience with preimplantation genetic diagnosis: a multicenter report. Fertil Steril (2004) 1.77

Arithmetic difficulties in females with the fragile X premutation. Am J Med Genet A (2006) 1.77

Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome. Neuropsychology (2008) 1.75

Impairment in the cognitive functioning of men with fragile X-associated tremor/ataxia syndrome (FXTAS). J Neurol Sci (2006) 1.75

Dry eye signs and symptoms in women with premature ovarian failure. Arch Ophthalmol (2004) 1.69

Fragile X-associated tremor/ataxia syndrome (FXTAS). Ment Retard Dev Disabil Res Rev (2004) 1.68

New insights into human nondisjunction of chromosome 21 in oocytes. PLoS Genet (2008) 1.68

CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS). Am J Med Genet B Neuropsychiatr Genet (2007) 1.66

Paternal transmission of fragile X syndrome. Am J Med Genet A (2004) 1.62

Genetic testing of embryos: a critical need for data. Reprod Biomed Online (2005) 1.58

Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome. Biochem J (2010) 1.58

Genetic modifiers predisposing to congenital heart disease in the sensitized Down syndrome population. Circ Cardiovasc Genet (2012) 1.57

Neuropathic features in fragile X premutation carriers. Am J Med Genet A (2007) 1.56

Size bias of fragile X premutation alleles in late-onset movement disorders. J Med Genet (2006) 1.54

Sequential pathways of testing after first-trimester screening for trisomy 21. Obstet Gynecol (2004) 1.53

Autistic spectrum disorder and the fragile X premutation. J Dev Behav Pediatr (2004) 1.47

Amygdala dysfunction in men with the fragile X premutation. Brain (2006) 1.46

The fragile X premutation presenting as essential tremor. Arch Neurol (2003) 1.43

Cell-free fetal DNA in maternal blood: kinetics, source and structure. Hum Reprod Update (2004) 1.43

Fragile X-associated tremor/ataxia syndrome: an aging face of the fragile X gene. Arch Neurol (2008) 1.42

Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats. J Med Genet (2006) 1.42

Workshop report: evaluation of genetic and epigenetic risks associated with assisted reproductive technologies and infertility. Fertil Steril (2007) 1.42

Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice. Acta Neuropathol (2011) 1.39

A neuropsychological investigation of male premutation carriers of fragile X syndrome. Neuropsychologia (2004) 1.38

NOBOX homeobox mutation causes premature ovarian failure. Am J Hum Genet (2007) 1.37

Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome. J Urol (2007) 1.37

Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back. Am J Med Genet A (2010) 1.36

Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project. Genet Med (2008) 1.36

Executive summary of the Stages of Reproductive Aging Workshop + 10: addressing the unfinished agenda of staging reproductive aging. Menopause (2012) 1.35

The National Down Syndrome Project: design and implementation. Public Health Rep (2007) 1.35

Impact of the Fragile X mental retardation 1 (FMR1) gene premutation on neuropsychiatric functioning in adult males without fragile X-associated Tremor/Ataxia syndrome: a controlled study. Am J Med Genet B Neuropsychiatr Genet (2008) 1.34

Meeting the needs of young women with secondary amenorrhea and spontaneous premature ovarian failure. Obstet Gynecol (2002) 1.33

Bone mineral density in estrogen-deficient young women. J Clin Endocrinol Metab (2009) 1.33

A quantitative ELISA assay for the fragile x mental retardation 1 protein. J Mol Diagn (2009) 1.33

Dementia in fragile X-associated tremor/ataxia syndrome (FXTAS): comparison with Alzheimer's disease. Am J Med Genet B Neuropsychiatr Genet (2008) 1.32

Assessing the emotional needs of women with spontaneous premature ovarian failure. Fertil Steril (2005) 1.32

Fragile X: leading the way for targeted treatments in autism. Neurotherapeutics (2010) 1.31

A solution to limitations of cognitive testing in children with intellectual disabilities: the case of fragile X syndrome. J Neurodev Disord (2009) 1.31

Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder. Hum Genet (2011) 1.30

Fragile X: a family of disorders. Adv Pediatr (2009) 1.30

Lifespan changes in working memory in fragile X premutation males. Brain Cogn (2008) 1.29

The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome. J Clin Exp Neuropsychol (2008) 1.29

A randomized double-blind, placebo-controlled trial of minocycline in children and adolescents with fragile x syndrome. J Dev Behav Pediatr (2013) 1.29

No evidence for a difference in neuropsychological profile among carriers and noncarriers of the FMR1 premutation in adults under the age of 50. Am J Hum Genet (2008) 1.29

Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome. Mov Disord (2007) 1.28

Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome. Gen Hosp Psychiatry (2007) 1.26

Autoimmune oophoritis as a mechanism of follicular dysfunction in women with 46,XX spontaneous premature ovarian failure. Fertil Steril (2005) 1.26

Effect of the fragile X status categories and the fragile X mental retardation protein levels on executive functioning in males and females with fragile X. Neuropsychology (2003) 1.25

Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range. Am J Hum Genet (2002) 1.25

Developmental expression and subcellular localization of mouse MATER, an oocyte-specific protein essential for early development. Endocrinology (2003) 1.25

The efficacy of melatonin for sleep problems in children with autism, fragile X syndrome, or autism and fragile X syndrome. J Clin Sleep Med (2009) 1.25

A genetic basis for functional hypothalamic amenorrhea. N Engl J Med (2011) 1.24

Association between maternal age and meiotic recombination for trisomy 21. Am J Hum Genet (2004) 1.23

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain. Hum Mutat (2013) 1.23

Fragile X-associated tremor/ataxia syndrome--an older face of the fragile X gene. Nat Clin Pract Neurol (2007) 1.23

Fragile X analysis of 1112 prenatal samples from 1991 to 2010. Prenat Diagn (2011) 1.23

Interlaboratory comparison of fetal male DNA detection from common maternal plasma samples by real-time PCR. Clin Chem (2004) 1.23

Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome Projects. Hum Genet (2008) 1.22

Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder. Am J Med Genet A (2008) 1.20

Examination of FMR1 transcript and protein levels among 74 premutation carriers. J Hum Genet (2009) 1.20

Transcription factor FIGLA is mutated in patients with premature ovarian failure. Am J Hum Genet (2008) 1.20