A5043624782- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Autism Spectrum Disorder Research
- Down syndrome and intellectual disability research
- Prenatal Screening and Diagnostics
- Frailty in Older Adults
- Telomeres, Telomerase, and Senescence
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genetic Syndromes and Imprinting
- Chromosomal and Genetic Variations
- Dementia and Cognitive Impairment Research
- Alzheimer's disease research and treatments
- Epigenetics and DNA Methylation
- Congenital heart defects research
- RNA modifications and cancer
- DNA Repair Mechanisms
- RNA Research and Splicing
- Carcinogens and Genotoxicity Assessment
- Genomics and Chromatin Dynamics
- Ubiquitin and proteasome pathways
- Cancer-related molecular mechanisms research
- Glycosylation and Glycoproteins Research
- Chromatin Remodeling and Cancer
- DNA and Nucleic Acid Chemistry
- Cancer-related gene regulation
Tetra Tech (United States)
2025
The American Chestnut Foundation
2025
New York State Office for People With Developmental Disabilities
2008-2018
Icahn School of Medicine at Mount Sinai
2018
Center for Neurosciences
2018
Yale University
2018
University of British Columbia
2018
University of California, San Francisco
2018
Hussman Institute for Autism
2018
University of California, Los Angeles
2018
The ubiquitous presence of the neuropathology Alzheimer disease (AD) in individuals with Down's syndrome (DS) over 40 years age suggests that this group people will exhibit a high prevalence dementia type (DAT) as they age. present study indicates there is clear discrepancy between presumed AD and clinical expression DAT among older DS. In first 6 longitudinal study, authors compared 91 adults (31-63 age) DS mild or moderate mental retardation to 64 (31-76 other forms (MR) on yearly measures...
Currently, accepted protocol which has been developed at the Prenatal Diagnosis Laboratory of New York City (PDL) requires that when a chromosome abnormality is found in one or more cells flask, another 20-40 must be examined from two additional flasks. Chromosome mosaicism diagnosed only an identical detected In recent PDL series 12,000 cases studied according to this protocol, we 801 (6.68 per cent) single-cell pseudomosaicism (SCPM), 126 (1.05 multiple-cell (MCPM), and 24 (0.2 true...
Abstract Parent‐child dyadic gaze patterns were examined in fragile X [fra(X)] males and non‐fra(X) autistic across three age groups‐early childhood, middle childhood adolescence. Absolute probabilities of social did not significantly differ diagnostic groups. Event lag sequential analyses indicated that fra(X) sensitive to initiation by their parents but found eye contact aversive. Non‐fra(X) males, contrast, insensitive parent‐initiated gaze, find Implications for research on the...
The primary abnormality in Down syndrome (DS), trisomy 21, is well known; but how this chromosomal gain produces the complex DS phenotype, including immune system defects, not understood. We profiled DNA methylation total peripheral blood leukocytes (PBL) and T-lymphocytes from adults with normal controls found gene-specific abnormalities of CpG DS, many differentially methylated genes having known or predicted roles lymphocyte development function. Validation microarray data by bisulfite...
Spontaneous abortion (SA) occurs before 20 gestational weeks. Approximately, half of recurrent SA has no identifiable cause. No report yet been investigated the possible involvement lncRNA in pregnancy loss.Sixteen pairs pregnancies with spontaneous abortions and induced (IA) were studied. Embryonic sacs decidua collected for each pregnancy. A Human LncRNA Array was employed to profile genomewide lncRNAs, which then validated by RT-PCR.Differentially expressed lncRNAs identified. Biological...
Over a century after two introduced pathogens decimated American chestnut populations, breeding programs continue to incorporate resistance from Chinese recover self-sustaining populations. Due complex genetics of blight resistance, it is challenging obtain trees with sufficient and competitive growth. We developed high quality reference genomes for leveraged large disease phenotype genotype datasets develop accurate genomic selection. Inoculation simulation results indicate that may be...
Spectrin is a widely expressed protein with specific isoforms found in erythroid and nonerythroid cells. contains an Src homology 3 (SH3) domain of unknown function. A cDNA encoding candidate spectrin SH3 domain-binding was identified by interaction screening human brain expression library using the (αI) as bait. Five αI mRNA were brain. Mapping binding regions revealed presence two one Abl-SH3 region. The gene has been located to chromosome 10p11.2 → p12. belongs recently family tyrosine...
The fragile X syndrome is a frequent cause of developmental disabilities. It associated primarily with nonprogressive X-linked mental retardation. neurodevelopmental abnormalities 25 males and 3 females are described. Mental retardation was mild in 4, moderate 11, severe 6, profound 2 patients, while 4 patients had only learning presence or absence disability could not be determined the youngest (8 months). Seven infantile autism 7 epilepsy. Generally no major focal neurological were...
Preterm birth (PTB) is a live delivered before 37 weeks of gestation (GW). About one-third PTBs result from the preterm premature rupture membranes (PPROM). Up to present, pathogenic mechanisms underlying PPROM are not clearly understood. Here, we investigated differential expression long chain non-coding RNAs (lncRNAs) in placentas with PPROM, and their possible involvement pathways leading PPROM. A total number 1954, 776, 1050 lncRNAs were identified microarray (group A), which compared...
Abstract The authors present a case study of 70-year-old man with Down syndrome (“Mr. C.”) who they followed for 16 years and does not exhibit declines in cognitive or functional capacities indicative dementia, despite having well-documented, complete trisomy 21. describe the age-associated changes that occurred over as well provide detailed information regarding Mr. C.'s health genetic status. To further emphasize successful aging, compared his longitudinal performance profile 2 peers...
A myriad of ophthalmic disorders is associated with the phenotype Down syndrome including strabismus, cataracts, and refractive errors potentially resulting in significant visual impairment. Ophthalmic sequelae have been extensively studied children adolescents but less often older adults. In-depth review medical records adults indicated that were common. Cataracts most frequent disorder reported, followed by errors, presbyopia. Severity intellectual disability was unrelated to presence...
To investigate the clinical efficiency of noninvasive prenatal test (NIPT) identifying fetal chromosomal aneuploidies.In present study, 917 women with high-risk pregnancies were invited to participate in an NIPT trial based on Illumina HiSeq massively parallel sequencing platform. Abnormal cases validated by karyotyping and fluorescence situ hybridization (FISH) analysis. All participants' infants examined clinically followed up for at least 6 months.A total 35 (3.82%) detected abnormal...