scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1007849268 |
P356 | DOI | 10.1186/S12881-014-0119-0 |
P932 | PMC publication ID | 4412103 |
P698 | PubMed publication ID | 25348928 |
P5875 | ResearchGate publication ID | 267742931 |
P50 | author | Richard J. Kascsak | Q90406210 |
Sarah Nolin | Q67297434 | ||
P2093 | author name string | Carl Dobkin | |
Giuseppe LaFauci | |||
Tatyana Adayev | |||
Michael Field | |||
Michele Caggana | |||
W Ted Brown | |||
Veronica Wiley | |||
Anne Glicksman | |||
Tiffany Wotton | |||
Nicole Hosmer | |||
P2860 | cites work | Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population | Q28241139 |
Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio. | Q33527737 | ||
High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses | Q33706961 | ||
FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States | Q33781086 | ||
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 | Q34084834 | ||
Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome | Q34407383 | ||
Parents' decisions to screen newborns for FMR1 gene expansions in a pilot research project. | Q35010754 | ||
Interpreting Complete Blood Counts Soon After Birth in Newborns at Risk for Sepsis | Q35401811 | ||
Simple DNA extraction method for dried blood spots and comparison of two PCR assays for diagnosis of vertical human immunodeficiency virus type 1 transmission in Rwanda | Q35551514 | ||
Prevalence of CGG expansions of the FMR1 gene in a US population-based sample | Q36082674 | ||
Supporting family adaptation to presymptomatic and "untreatable" conditions in an era of expanded newborn screening | Q37292534 | ||
Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. | Q37373910 | ||
Maternal attitudes to newborn screening for fragile X syndrome | Q85885115 | ||
A novel methylation PCR that offers standardized determination of FMR1 methylation and CGG repeat length without southern blot analysis | Q37415441 | ||
A point mutation in the FMR-1 gene associated with fragile X mental retardation | Q41579799 | ||
Absence of expression of the FMR-1 gene in fragile X syndrome | Q41669091 | ||
Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis | Q43512176 | ||
Fragile X mental retardation 1 (FMR1) intron 1 methylation in blood predicts verbal cognitive impairment in female carriers of expanded FMR1 alleles: evidence from a pilot study. | Q44610465 | ||
Learning-disabled males with a fragile X CGG expansion in the upper premutation size range. | Q47341795 | ||
Alterations of peripheral leukocyte count, erythrocyte sedimentation rate, and C-reactive protein in febrile urinary tract infection | Q47984728 | ||
Fragile X screening by quantification of FMRP in dried blood spots by a Luminex immunoassay | Q50313649 | ||
Screening and instability of FMR1 alleles in a prospective sample of 24,449 mother-newborn pairs from the general population. | Q51861516 | ||
Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. | Q51965229 | ||
FMRP expression as a potential prognostic indicator in fragile X syndrome. | Q51984679 | ||
The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm. | Q54047243 | ||
Expanded clinical phenotype of women with the FMR1 premutation. | Q55420262 | ||
Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles. | Q55692015 | ||
P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
P6216 | copyright status | copyrighted | Q50423863 |
P304 | page(s) | 119 | |
P577 | publication date | 2014-10-28 | |
P1433 | published in | BMC Medical Genetics | Q15759918 |
P1476 | title | Fragile X protein in newborn dried blood spots | |
P478 | volume | 15 |
Q58088548 | ASD Comorbidity in Fragile X Syndrome: Symptom Profile and Predictors of Symptom Severity in Adolescent and Young Adult Males |
Q58705431 | Curvilinear Association Between Language Disfluency and CGG Repeat Size Across the Normal, Intermediate, and Premutation Range |
Q28079967 | Detection and Quantification of the Fragile X Mental Retardation Protein 1 (FMRP) |
Q39375765 | Fragile X syndrome: an overview and update of the FMR1 gene. |
Q28077980 | Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders |
Q47630636 | Recent advances in assays for the fragile X-related disorders. |
Q33629743 | Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety. |
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