ArticleAmerican journal of human genetics1996
Tourette syndrome in a pedigree with a 7;18 translocation: identification of a YAC spanning the translocation breakpoint at 18q22.3.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
36 citing papers in PubMed, 90 citations in OpenAlex.
- Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome.Molecular genetics and genomics : MGG · 2007Trial
- Antioxidant Behavioural Phenotype in theGenes · 2023Article
- The shared genetic risk factors between Tourette syndrome and obsessive-compulsive disorder.Frontiers in neurology · 2023Review
- Candidate Genes and Pathways Associated with Gilles de la Tourette Syndrome-Where Are We?Genes · 2021Review
- Tourette Syndrome Risk Genes Regulate Mitochondrial Dynamics, Structure, and Function.Frontiers in psychiatry · 2020Article
- Association of Genetic Variation in the 3'UTR of LHX6, IMMP2L, and AADAC With Tourette Syndrome.Frontiers in neurology · 2020Article
- Mitochondrial Function in Gilles de la Tourette Syndrome Patients With and Without IntragenicFrontiers in neurology · 2020Article
- Progress in Genetic Studies of Tourette's Syndrome.Brain sciences · 2017Review
- Developmental plasticity shapes synaptic phenotypes of autism-associated neuroligin-3 mutations in the calyx of Held.Molecular psychiatry · 2017Article
- Pediatric Autoimmune Disorders Associated with Streptococcal Infections and Tourette's Syndrome in Preclinical Studies.Frontiers in neuroscience · 2016Review
- An Analytic Solution to the Computation of Power and Sample Size for Genetic Association Studies under a Pleiotropic Mode of Inheritance.Human heredity · 2016Article
- The Genetic Etiology of Tourette Syndrome: Large-Scale Collaborative Efforts on the Precipice of Discovery.Frontiers in neuroscience · 2016Article
- From Genetics to Epigenetics: New Perspectives in Tourette Syndrome Research.Frontiers in neuroscience · 2016Review
- Functional Evaluations of Genes Disrupted in Patients with Tourette's Disorder.Frontiers in psychiatry · 2016Review
- Tourette Syndrome: Bridging the Gap between Genetics and Biology.Molecular neuropsychiatry · 2015Article
- Animal models of tic disorders: a translational perspective.Journal of neuroscience methods · 2014Review
- Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome.European journal of human genetics : EJHG · 2014Article
- Association of poly(ADP-ribose) polymerase-1 polymorphism with Tourette syndrome.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2013Article
- The implication of neuroactive steroids in Tourette's syndrome pathogenesis: A role for 5α-reductase?Journal of neuroendocrinology · 2013Review
- Chromosomal rearrangements in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literature.Neurogenetics · 2013Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Tourette syndrome is a neuropsychiatric disorder characterized by the presence of multiple, involuntary motor and vocal tics. Associated pathologies include attention deficit disorder and obsessive-compulsive disorder (OCD). Extensive linkage analysis based on an autosomal dominant mode of transmission with reduced penetrance has failed to show linkage with polymorphic markers, suggesting either locus heterogeneity or a polygenic origin for Tourette syndrome. An individual diagnosed with Tourette syndrome has been described carrying a constitutional (7;18) chromosome translocation (Comings et al. 1986). Other family members carrying the translocation exhibit features seen in Tourette syndrome including motor tics, vocal tics, and OCD. Since the disruption of specific genes by a chromosomal rearrangement can elicit a particular phenotype, we have undertaken the physical mapping of the 7;18 translocation such that genes mapping at the site of the breakpoint can be identified and evaluated for a possible involvement in Tourette syndrome. Using somatic cell hybrids retaining either the der(7) or the der(18), a more precise localization of the breakpoints on chromosomes 7 and 18 have been determined. Furthermore, physical mapping has identified two YAC clones that span the translocation breakpoint on chromosome 18 as determined by FISH. These YAC clones will be useful for the eventual identification of genes that map to chromosomes 7 and 18 at the site of the translocation.
Indexed as
Identifiers
8900226PMC1914824W1555439787What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.