Fragile X protein in newborn dried blood spots

scientific article

Fragile X protein in newborn dried blood spots is …
instance of (P31):
scholarly articleQ13442814

External links are
P6179Dimensions Publication ID1007849268
P356DOI10.1186/S12881-014-0119-0
P932PMC publication ID4412103
P698PubMed publication ID25348928
P5875ResearchGate publication ID267742931

P50authorRichard J. KascsakQ90406210
Sarah NolinQ67297434
P2093author name stringCarl Dobkin
Giuseppe LaFauci
Tatyana Adayev
Michael Field
Michele Caggana
W Ted Brown
Veronica Wiley
Anne Glicksman
Tiffany Wotton
Nicole Hosmer
P2860cites workPenetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier populationQ28241139
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 analysesQ33706961
FMR1 CGG allele size and prevalence ascertained through newborn screening in the United StatesQ33781086
An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysisQ34084834
Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndromeQ34407383
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 SepsisQ35401811
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 RwandaQ35551514
Prevalence of CGG expansions of the FMR1 gene in a US population-based sampleQ36082674
Supporting family adaptation to presymptomatic and "untreatable" conditions in an era of expanded newborn screeningQ37292534
Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.Q37373910
Maternal attitudes to newborn screening for fragile X syndromeQ85885115
A novel methylation PCR that offers standardized determination of FMR1 methylation and CGG repeat length without southern blot analysisQ37415441
A point mutation in the FMR-1 gene associated with fragile X mental retardationQ41579799
Absence of expression of the FMR-1 gene in fragile X syndromeQ41669091
Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosisQ43512176
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 infectionQ47984728
Fragile X screening by quantification of FMRP in dried blood spots by a Luminex immunoassayQ50313649
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
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P304page(s)119
P577publication date2014-10-28
P1433published inBMC Medical GeneticsQ15759918
P1476titleFragile X protein in newborn dried blood spots
P478volume15

Reverse relations

cites work (P2860)
Q58088548ASD Comorbidity in Fragile X Syndrome: Symptom Profile and Predictors of Symptom Severity in Adolescent and Young Adult Males
Q58705431Curvilinear Association Between Language Disfluency and CGG Repeat Size Across the Normal, Intermediate, and Premutation Range
Q28079967Detection and Quantification of the Fragile X Mental Retardation Protein 1 (FMRP)
Q39375765Fragile X syndrome: an overview and update of the FMR1 gene.
Q28077980Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders
Q47630636Recent advances in assays for the fragile X-related disorders.
Q33629743Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety.

Search more.