Pages that link to "Q52215664"

The following pages link to Mosaicism in fragile X affected males. (Q52215664):

Displaying 50 items.

• Sequencing the unsequenceable: expanded CGG-repeat alleles of the fragile X gene (Q24596776) (← links)
• Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum Disorder (Q24801230) (← links)
• The multiple molecular facets of fragile X-associated tremor/ataxia syndrome (Q26852891) (← links)
• The role of AGG interruptions in fragile X repeat expansions: a twenty-year perspective (Q27010529) (← links)
• Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders (Q27011565) (← links)
• Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells. (Q27687330) (← links)
• Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders (Q28077980) (← links)
• Advanced technologies for the molecular diagnosis of fragile X syndrome (Q28087781) (← links)
• Molecular and cellular genetics of fragile X syndrome (Q33537385) (← links)
• Fragile X syndrome: a review of clinical and molecular diagnoses (Q33576328) (← links)
• Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats (Q33680162) (← links)
• Language Development in Individuals with Fragile X Syndrome (Q33788960) (← links)
• Biomarkers in the Study of Families of Individuals with Developmental Disabilities (Q33795272) (← links)
• Aging in fragile X syndrome. (Q33901217) (← links)
• iPSC-derived forebrain neurons from FXS individuals show defects in initial neurite outgrowth (Q33919340) (← links)
• Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome (Q34056154) (← links)
• Cis-acting DNA sequence at a replication origin promotes repeat expansion to fragile X full mutation. (Q34117236) (← links)
• Clinical and molecular implications of mosaicism in FMR1 full mutations (Q34198878) (← links)
• FMRP detection assay for the diagnosis of the fragile X syndrome (Q34306129) (← links)
• FMR1 CGG-repeat instability in single sperm and lymphocytes of fragile-X premutation males (Q34390164) (← links)
• Noninvasive test for fragile X syndrome, using hair root analysis (Q34390773) (← links)
• Rare intranuclear inclusions in the brains of 3 older adult males with fragile x syndrome: implications for the spectrum of fragile x-associated disorders (Q35027822) (← links)
• The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge (Q35170163) (← links)
• The transcription-coupled repair protein ERCC6/CSB also protects against repeat expansion in a mouse model of the fragile X premutation (Q35243323) (← links)
• Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor. (Q35643664) (← links)
• Language development and fragile X syndrome: profiles, syndrome-specificity, and within-syndrome differences. (Q36746547) (← links)
• β-glucuronidase mRNA levels are correlated with gait and working memory in premutation females: understanding the role of FMR1 premutation alleles (Q37076523) (← links)
• Methyl-CpG-binding PCR of bloodspots for confirmation of fragile X syndrome in males (Q37412045) (← links)
• The DNA replication program is altered at the FMR1 locus in fragile X embryonic stem cells (Q37577036) (← links)
• Distribution of CGG repeat sizes within the fragile X mental retardation 1 (FMR1) homologue in a non-human primate population (Q38351697) (← links)
• FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile. (Q38878952) (← links)
• Single-tube methylation-specific duplex-PCR assay for rapid and accurate diagnosis of Fragile X Mental Retardation 1-related disorders. (Q38920529) (← links)
• Human pluripotent stem cells in modeling human disorders: the case of fragile X syndrome (Q39024323) (← links)
• Finding FMR1 mosaicism in Fragile X syndrome. (Q40159347) (← links)
• Perspectives and molecular diagnosis of the fragile X syndrome. (Q41136711) (← links)
• Screening for Fragile X Syndrome: Information Needs for Health Planners (Q41579814) (← links)
• Fragile X mosaic male full mutation/normal allele detected by PCR/MS-MLPA (Q42266937) (← links)
• High frequency of T9 and CFTR mutations in children with idiopathic bronchiectasis (Q43074046) (← links)
• Gender differences in repetitive language in fragile X syndrome (Q43949554) (← links)
• Presynaptic FMR1 genotype influences the degree of synaptic connectivity in a mosaic mouse model of fragile X syndrome. (Q45192998) (← links)
• Prenatal Diagnosis of Fragile X: Can a Full Mutation Allele in the FMR1 Gene Contract to a Normal Size? (Q45329800) (← links)
• Size and methylation mosaicism in males with Fragile X syndrome. (Q46006405) (← links)
• Molecular analyses of neurogenic defects in a human pluripotent stem cell model of fragile X syndrome (Q46696575) (← links)
• A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy. (Q47263548) (← links)
• Recent advances in assays for the fragile X-related disorders. (Q47630636) (← links)
• Global transcriptome dysregulation in second trimester fetuses with FMR1 expansions (Q47903193) (← links)
• The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cells (Q48061195) (← links)
• FMR1 gene expression in olfactory neuroblasts from two males with fragile X syndrome (Q48300723) (← links)
• A fragile X mosaic male with a cryptic full mutation detected in epithelium but not in blood (Q48943788) (← links)
• Think about it: FMR1 gene mosaicism. (Q50310361) (← links)