Affiliation: University of Nebraska Medical Center
- Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITFS D Smith
Center for Hereditary Communication Disorders, Boys Town National Research Hospital, 555 North 30th Street, Omaha, NE 68131, USA
J Med Genet 37:446-8. 2000....
- Etiologies and molecular mechanisms of communication disordersShelley D Smith
Department of Pediatrics and Munroe Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE 68198 5960, USA
J Dev Behav Pediatr 31:555-63. 2010..When combined with careful phenotypic studies, molecular genetic studies have the potential to refine the clinical definitions of communication disorders and influence their remediation...
- Genes, language development, and language disordersShelley D Smith
Department of Pediatrics, University of Nebraska Medical Center, Omaha, Nebraska 68198 5456, USA
Ment Retard Dev Disabil Res Rev 13:96-105. 2007..Understanding these processes can form the basis for refined procedures for diagnosis and treatment...
- Approach to epigenetic analysis in language disordersShelley D Smith
University of Nebraska Medical Center, Omaha, NE, USA
J Neurodev Disord 3:356-64. 2011....
- TDT-association analysis of EKN1 and dyslexia in a Colorado twin cohortHaiying Meng
Department of Pediatrics, Yale Child Health Research Center, Yale University School of Medicine, 464 Congress Avenue, New Haven, CT 06520 8081, USA
Hum Genet 118:87-90. 2005..Alternatively, the published findings of association with markers in EKN1 may reflect linkage disequilibrium with variation in another gene(s) in the region...
- Gene x Environment interactions in speech sound disorder predict language and preliteracy outcomesLauren M McGrath
University of Denver, Department of Psychology, Frontier Hall, 2155 S Race Street, Denver, CO 80209, USA
Dev Psychopathol 19:1047-72. 2007..The direction of these interactions and possible interpretations are explored in the discussion...
- Refinement of the 6p21.3 quantitative trait locus influencing dyslexia: linkage and association analysesKaren E Deffenbacher
Center for Human Molecular Genetics, Munroe Meyer Institute, University of Nebraska Medical Center, NE Medical Center MMI Rm 3085, Omaha, NE 68198 5455, USA
Hum Genet 115:128-38. 2004..The results of the association study have thereby allowed us to significantly reduce the number of possible candidate genes and to prioritize genes for further mutation screening...
- A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United StatesClyde Francks
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
Am J Hum Genet 75:1046-58. 2004..In addition, the QTL effect may be largely limited to the severe range of reading disability...
- DCDC2 is associated with reading disability and modulates neuronal development in the brainHaiying Meng
Department of Pediatrics, Yale Child Health Research Center, Yale University School of Medicine, New Haven, CT 06520, USA
Proc Natl Acad Sci U S A 102:17053-8. 2005..The statistical and functional studies are complementary and are consistent with the latest clinical imaging data for RD. Thus, we propose that DCDC2 is a candidate gene for RD...
- Independent genome-wide scans identify a chromosome 18 quantitative-trait locus influencing dyslexiaSimon E Fisher
Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK
Nat Genet 30:86-91. 2002..This is the first report of QTL-based genome-wide scanning for a human cognitive trait...
- Neuropsychology and genetics of speech, language, and literacy disordersRobin L Peterson
Department of Psychology, University of Denver, 2155 South Race Street, Denver, CO 80208, USA
Pediatr Clin North Am 54:543-61, vii. 2007..Research across levels of analysis is progressing rapidly to promote understanding not only of each disorder by itself but also of the relationships of the three disorders to each other...
- Fine mapping of the chromosome 2p12-16 dyslexia susceptibility locus: quantitative association analysis and positional candidate genes SEMA4F and OTX1Clyde Francks
Wellcome Trust Centre for Human Genetics, University of Oxford, UK
Psychiatr Genet 12:35-41. 2002..Our study outlines the approach necessary for the identification of genetic variants causing dyslexia susceptibility in an epidemiological population of dyslexics...
- Breakthroughs in the search for dyslexia candidate genesLauren M McGrath
University of Denver, Department of Psychology, Frontier Hall, 2155 S Race St, Denver, CO 80208, USA
Trends Mol Med 12:333-41. 2006..When causal variants are identified, they will need to be considered within a multifactorial framework, which is likely to involve gene-gene and gene-environment interactions, to make accurate predictions of diagnostic status...
- Collaborative analysis of DRD4 and DAT genotypes in population-defined ADHD subtypesRichard D Todd
Department of Psychiatry, Washington University School of Medicine, St Louis, Missouri 63110, USA
J Child Psychol Psychiatry 46:1067-73. 2005..The goal of the current study is to test whether population-based ADHD subtypes defined by latent class analysis help resolve issues of variable findings across individual gene association studies...
- Linkage of speech sound disorder to reading disability lociShelley D Smith
University of Nebraska Medical Center, USA
J Child Psychol Psychiatry 46:1057-66. 2005..The present study tested whether SSD is linked to replicated risk loci for RD...
- Quantitative trait locus for reading disability on chromosome 6p is pleiotropic for attention-deficit/hyperactivity disorderErik G Willcutt
Institute for Behavioral Genetics, University of Colorado, Boulder, Colorado 80309, USA
Am J Med Genet 114:260-8. 2002....
- Joint analysis of the DRD5 marker concludes association with attention-deficit/hyperactivity disorder confined to the predominantly inattentive and combined subtypesNaomi Lowe
Department of Genetics, Trinity College, Dublin 2, Ireland
Am J Hum Genet 74:348-56. 2004..The joint analysis showed association with the DRD5 locus (P=.00005; odds ratio 1.24; 95% confidence interval 1.12-1.38). This association appears to be confined to the predominantly inattentive and combined clinical subtypes...
- DFNA2/KCNQ4 and its manifestationsEls M R De Leenheer
Department of Otorhinolaryngology, University Medical Centre Nijmegen, The Netherlands
Adv Otorhinolaryngol 61:41-6. 2002
- Differential genetic etiology of reading component processes as a function of IQValerie S Knopik
Department of Psychiatry, Washington University School of Medicine, St Louis, Missouri 63108, USA
Behav Genet 32:181-98. 2002....
- The Molecular Biology of Neurosensory SystemsShelley Smith; Fiscal Year: 2007..The result will be a continuing, self-sustaining, and competitive research Center that will stimulate excellence in all three participating institutions and throughout the State. ..
- IDENTIFICATION OF GENES INFLUENCING DYSLEXIAShelley Smith; Fiscal Year: 2001..Linkage and association analysis will be used to verify that a candidate gene effects reading disability in the 175 nuclear families. ..
- The Molecular Biology of Neurosurgery SystemsShelley D Smith; Fiscal Year: 2010....