| 1 |
High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses.
61
24
|
Chen L...Latham GJ
|
21430544 |
2011 |
| 2 |
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.
24
|
Ishiura H...Tsuji S
|
31332380 |
2019 |
| 3 |
Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.
24
|
Sone J...Sobue G
|
31332381 |
2019 |
| 4 |
Improving the Diagnosis of Autism Spectrum Disorder in Fragile X Syndrome by Adapting the Social Communication Questionnaire and the Social Responsiveness Scale-2.
24
|
Kidd SA...Kaufmann WE
|
31342442 |
2019 |
| 5 |
Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles.
24
|
Nolin SL...Hadd AG
|
31050164 |
2019 |
| 6 |
Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders.
24
|
Tian Y...Shen L
|
31178126 |
2019 |
| 7 |
The clinicians´ dilemma with mosaicism-an insight from inner cell mass biopsies.
24
|
Lawrenz B...Fatemi HM
|
31114858 |
2019 |
| 8 |
Allopregnanolone Treatment Improves Plasma Metabolomic Profile Associated with GABA Metabolism in Fragile X-Associated Tremor/Ataxia Syndrome: a Pilot Study.
24
|
Napoli E...Giulivi C
|
30187385 |
2019 |
| 9 |
Closing the Gender Gap in Fragile X Syndrome: Review on Females with FXS and Preliminary Research Findings.
24
|
Bartholomay KL...Reiss AL
|
30642066 |
2019 |
| 10 |
Voice of People with Fragile X Syndrome and Their Families: Reports from a Survey on Treatment Priorities.
24
|
Weber JD...Erickson C
|
30678024 |
2019 |
| 11 |
CGG repeat length and AGG interruptions as indicators of fragile X-associated diminished ovarian reserve.
24
|
Lekovich J...Gerhardt J
|
29267266 |
2018 |
| 12 |
Rare FMR1 gene mutations causing fragile X syndrome: A review.
24
|
Sitzmann AF...Butler MG
|
29178241 |
2018 |
| 13 |
FXPOI: Pattern of AGG Interruptions Does not Show an Association With Age at Amenorrhea Among Women With a Premutation.
24
|
Allen EG...Sherman SL
|
30123240 |
2018 |
| 14 |
Fragile X-Associated Neuropsychiatric Disorders (FXAND).
24
|
Hagerman RJ...Schneider A
|
30483160 |
2018 |
| 15 |
Fragile X Associated Primary Ovarian Insufficiency (FXPOI): Case Report and Literature Review.
24
|
Fink DA...Elizur SE
|
30542367 |
2018 |
| 16 |
Open-Label Allopregnanolone Treatment of Men with Fragile X-Associated Tremor/Ataxia Syndrome.
24
|
Wang JY...Hagerman RJ
|
28707277 |
2017 |
| 17 |
Recent advances in assays for the fragile X-related disorders.
24
|
Hayward BE...Usdin K
|
28866801 |
2017 |
| 18 |
Insulin signaling misregulation underlies circadian and cognitive deficits in a Drosophila fragile X model.
24
|
Monyak RE...Jongens TA
|
27090306 |
2017 |
| 19 |
FMR1 CGG repeat expansion mutation detection and linked haplotype analysis for reliable and accurate preimplantation genetic diagnosis of fragile X syndrome.
24
|
Rajan-Babu IS...Chong SS
|
28720156 |
2017 |
| 20 |
The ovarian response in fragile X patients and premutation carriers undergoing IVF-PGD: reappraisal.
24
|
Avraham S...Azem F
|
28472405 |
2017 |
| 21 |
Metformin ameliorates core deficits in a mouse model of fragile X syndrome.
24
|
Gantois I...Sonenberg N
|
28504725 |
2017 |
| 22 |
Implications of the FMR1 Premutation for Children, Adolescents, Adults, and Their Families.
24
|
Wheeler A...Riley C
|
28814538 |
2017 |
| 23 |
Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment.
24
|
Kaufmann WE...Berry-Kravis E
|
28814540 |
2017 |
| 24 |
Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study.
24
|
Bailey DB...Wheeler A
|
28814542 |
2017 |
| 25 |
Detecting mosaicism in trophectoderm biopsies: current challenges and future possibilities.
24
|
Capalbo A...Treff N
|
27738115 |
2017 |
| 26 |
Prognostic dilemmas and genetic counseling for prenatally detected fragile X gene expansions.
24
|
Finucane B...Martin CL
|
27862088 |
2017 |
| 27 |
Clinicopathological features of adult-onset neuronal intranuclear inclusion disease.
24
|
Sone J...Sobue G
|
27797808 |
2016 |
| 28 |
Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers.
24
|
Hall DA...O'Keefe JA
|
27287737 |
2016 |
| 29 |
Hormone Replacement Therapy Versus the Combined Oral Contraceptive Pill in Premature Ovarian Failure: A Randomized Controlled Trial of the Effects on Bone Mineral Density.
24
|
Cartwright B...Rymer J
|
27340881 |
2016 |
| 30 |
Reproductive and gynecologic care of women with fragile X primary ovarian insufficiency (FXPOI).
24
|
Hipp HS...Sherman SL
|
27552334 |
2016 |
| 31 |
A Set of Assays for the Comprehensive Analysis of FMR1 Alleles in the Fragile X-Related Disorders.
24
|
Hayward BE...Usdin K
|
27528259 |
2016 |
| 32 |
Neuropsychiatry of fragile X-premutation carriers with and without fragile X-associated tremor-ataxia syndrome: implications for neuropsychology.
24
|
Bourgeois JA
|
27355575 |
2016 |
| 33 |
Donor oocyte conception and pregnancy complications: a systematic review and meta-analysis.
24
|
Jeve YB...Khare M
|
26854328 |
2016 |
| 34 |
Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management.
24
|
Hagerman RJ...Hagerman P
|
27340021 |
2016 |
| 35 |
A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblings.
24
|
Hadd AG...Hall DA
|
27980694 |
2016 |
| 36 |
Diminished ovarian reserve is not observed in infertility patients with high normal CGG repeats on the fragile X mental retardation 1 (FMR1) gene.
24
|
Schufreider A...Feinberg EC
|
26345686 |
2015 |
| 37 |
Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers.
24
|
Nolin SL...Hadd AG
|
25210937 |
2015 |
| 38 |
Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion.
24
|
Loesch DZ...Hessl D
|
24428240 |
2015 |
| 39 |
Clinical and Technical Overview of Preimplantation Genetic Diagnosis for Fragile X Syndrome: Experience at the University Hospital Virgen del Rocio in Spain.
24
|
Fernandez RM...Antinolo G
|
26713318 |
2015 |
| 40 |
Distribution of AGG interruption patterns within nine world populations.
24
|
Yrigollen CM...Tassone F
|
25606365 |
2014 |
| 41 |
Fragile X syndrome: a review of associated medical problems.
24
|
Kidd SA...Berry-Kravis E
|
25287458 |
2014 |
| 42 |
The significance of fragile X mental retardation gene 1 CGG repeat sizes in the normal and intermediate range in women with primary ovarian insufficiency.
24
|
Voorhuis M...Dutch Primary Ovarian Insufficiency Consortium
|
24812319 |
2014 |
| 43 |
Epidemiology of fragile X syndrome: a systematic review and meta-analysis.
24
|
Hunter J...Leal J
|
24700618 |
2014 |
| 44 |
Neurodevelopmental disabilities in children with intermediate and premutation range fragile X cytosine-guanine-guanine expansions.
24
|
Renda MM...Hagerman RJ
|
23266944 |
2014 |
| 45 |
A novel methylation PCR that offers standardized determination of FMR1 methylation and CGG repeat length without southern blot analysis.
24
|
Grasso M...Coviello DA
|
24177047 |
2014 |
| 46 |
Development of mavoglurant and its potential for the treatment of fragile X syndrome.
24
|
Gomez-Mancilla B...Jacquemont S
|
24251408 |
2014 |
| 47 |
Associated features in females with an FMR1 premutation.
24
|
Wheeler AC...Hagerman R
|
25097672 |
2014 |
| 48 |
Elevated levels of FMR1 mRNA in granulosa cells are associated with low ovarian reserve in FMR1 premutation carriers.
24
|
Elizur SE...Cohen Y
|
25153074 |
2014 |
| 49 |
Improving IQ measurement in intellectual disabilities using true deviation from population norms.
24
|
Sansone SM...Hessl D
|
26491488 |
2014 |
| 50 |
Live birth following serial vitrification of embryos and PGD for fragile X syndrome in a patient with the premutation and decreased ovarian reserve.
24
|
Nayot D...Dahan MH
|
24062195 |
2013 |
