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Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome PDF available through Get Fulltext Research

Merrill, Amy E. Merriman, Barry Farrington-Rock, Claire Camacho, Natalia Sebald, Eiman T. Funari, Vincent A. Schibler, Matthew J. Firestein, Marc H. Cohn, Zachary A. Priore, Mary Ann ...

Published in The American Journal of Human Genetics

The short-rib polydactyly (SRP) syndromes are a heterogenous group of perinatal lethal skeletal disorders with polydactyly and multisystem organ abnormalities. Homozygosity by descent mapping in a consanguineous SRP family identified a genomic region that contained DYNC2H1, a cytoplasmic dynein involved in retrograde transport in the cilium. Affect...

Bevacizumab and chemotherapy for recurrent glioblastoma: a single-institution experience.

Pl, Nghiemphu W, Liu Y, Lee T, Than C, Graham A, Lai Rm, Green Wb, Pope Lm, Liau Ps, Mischel ...

Published in Neurology

A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain ... PDF available through Get Fulltext Research

Tompson, Stuart W. Merriman, Barry Funari, Vincent A. Fresquet, Maryline Lachman, Ralph S. Rimoin, David L. Nelson, Stanley F. Briggs, Michael D. Cohn, Daniel H. Krakow, Deborah ...

Published in The American Journal of Human Genetics

Analysis of a nuclear family with three affected offspring identified an autosomal-recessive form of spondyloepimetaphyseal dysplasia characterized by severe short stature and a unique constellation of radiographic findings. Homozygosity for a haplotype that was identical by descent between two of the affected individuals identified a locus for the...

Association of the cannabinoid receptor gene (CNR1) with ADHD and post-traumatic stress disorder.

Lu, Ake T Ogdie, Matthew N Järvelin, Marjo-Ritta Moilanen, Irma K Loo, Sandra K McCracken, James T McGough, James J Yang, May H Peltonen, Leena Nelson, Stanley F ...

Published in American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Attention deficit hyperactivity disorder (ADHD) is a highly heritable disorder affecting some 5-10% of children and 4-5% of adults. The cannabinoid receptor gene (CNR1) is a positional candidate gene due to its location near an identified ADHD linkage peak on chromosome 6, its role in stress and dopamine regulation, its association with other psych...

Gene expression analysis of glioblastomas identifies the major molecular basis for the prognostic benefit of younger age... PDF available through Get Fulltext Research

Lee, Yohan Scheck, Adrienne C Cloughesy, Timothy F Lai, Albert Dong, Jun Farooqi, Haumith K Liau, Linda M Horvath, Steve Mischel, Paul S Nelson, Stanley F ...

Published in BMC Medical Genomics

BackgroundGlioblastomas are the most common primary brain tumour in adults. While the prognosis for patients is poor, gene expression profiling has detected signatures that can sub-classify GBMs relative to histopathology and clinical variables. One category of GBM defined by a gene expression signature is termed ProNeural (PN), and has substantial...

Relationship between gene expression and enhancement in glioblastoma multiforme: exploratory DNA microarray analysis.

Wb, Pope Jh, Chen J, Dong Mr, Carlson A, Perlina Tf, Cloughesy Lm, Liau Ps, Mischel P, Nghiemphu A, Lai ...

Published in Radiology

Genome-wide Linkage Analyses of Quantitative and Categorical Autism Subphenotypes PDF available through Get Fulltext Research

Liu, Xiao-Qing Paterson, Andrew D. Szatmari, Peter

Published in Biological Psychiatry

Background The search for susceptibility genes in autism and autism spectrum disorders (ASD) has been hindered by the possible small effects of individual genes and by genetic (locus) heterogeneity. To overcome these obstacles, one method is to use autism-related subphenotypes instead of the categorical diagnosis of autism since they may be more di...

CBCL pediatric bipolar disorder profile and ADHD: comorbidity and quantitative trait loci analysis.

Jj, Mcgough Sk, Loo Jt, Mccracken J, Dang S, Clark Sf, Nelson Sl, Smalley

Published in Journal of the American Academy of Child & Adolescent Psychiatry

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.

Rock, Matthew J Prenen, Jean Funari, Vincent A Funari, Tara L Merriman, Barry Nelson, Stanley F Lachman, Ralph S Wilcox, William R Reyno, Soraya Quadrelli, Roberto ...

Published in Nature genetics

The brachyolmias constitute a clinically and genetically heterogeneous group of skeletal dysplasias characterized by a short trunk, scoliosis and mild short stature. Here, we identify a locus for an autosomal dominant form of brachyolmia on chromosome 12q24.1-12q24.2. Among the genes in the genetic interval, we selected TRPV4, which encodes a calci...

Multimarker analysis and imputation of multiple platform pooling-based genome-wide association studies.

N, Homer Wd, Tembe S, Szelinger M, Redman Da, Stephan Jv, Pearson Sf, Nelson D, Craig

Published in Bioinformatics

For many genome-wide association (GWA) studies individually genotyping one million or more SNPs provides a marginal increase in coverage at a substantial cost. Much of the information gained is redundant due to the correlation structure inherent in the human genome. Pooling-based GWA studies could benefit significantly by utilizing this redundancy ...

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