Zobrazeno 1 - 10
of 30
pro vyhledávání: '"S W, Scherer"'
Autor:
L. D’Abate, S. Walker, R. K. C. Yuen, K. Tammimies, J. A. Buchanan, R. W. Davies, B. Thiruvahindrapuram, J. Wei, J. Brian, S. E. Bryson, K. Dobkins, J. Howe, R. Landa, J. Leef, D. Messinger, S. Ozonoff, I. M. Smith, W. L. Stone, Z. E. Warren, G. Young, L. Zwaigenbaum, S. W. Scherer
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-9 (2019)
Siblings of those with autism spectrum disorder (ASD) have increased likelihood of ASD or related subclinical traits. Here, studying 253 ASD families, D’Abate et al. test the predictive value of genomic copy number variation involving ASD-associate
Externí odkaz:
https://doaj.org/article/7940f1b2c2924eec84eda8740660d6c8
Autor:
C, Peña-Padilla, C R, Marshall, S, Walker, S W, Scherer, G, Tavares-Macías, G, Razo-Jiménez, L, Bobadilla-Morales, E, Acosta-Fernández, A, Corona-Rivera, R, Mendoza-Londono, J R, Corona-Rivera
Publikováno v:
Clinical genetics. 91(4)
〈 We report on an infant with Opitz trigonocephaly C syndrome (OTCS), who also had manifestations of ciliopathy, including short ribs (non-asphyxiating), trident acetabular roofs, postaxial polydactyly cone-shaped epiphyses, and dysplasia of the re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::505d0ff85f3c1956031419aa9838c8ea
https://pubmed.ncbi.nlm.nih.gov/27874174
https://pubmed.ncbi.nlm.nih.gov/27874174
Publikováno v:
Genomics. 48:63-70
We recently cloned and expressed the major hyaluronidase activity from human plasma, HYAL1, and found that the protein is 40% identical to the testicular hyaluronidase, PH-20. The HYAL1 mRNA sequence was used in a homology search of the mouse databas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce2e46f603e9e0f721b1a1ffb39f48ca
https://doi.org/10.1006/geno.1997.5158
https://doi.org/10.1006/geno.1997.5158
Autor:
M T, Carter, S W, Scherer
Publikováno v:
Clinical genetics. 83(5)
Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders affecting social communication, language and behavior. The underlying cause(s) in a given individual is often elusive, with the exception of clinically recogni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::66d8f213b3a4013cc70aac53dbd73062
https://pubmed.ncbi.nlm.nih.gov/23425232
https://pubmed.ncbi.nlm.nih.gov/23425232
Autor:
S, Venkateswaran, K, Zheng, M, Sacchetti, D, Gagne, D L, Arnold, A D, Sadovnick, S W, Scherer, B, Banwell, A, Bar-Or, D K, Simon, Leanne, Montgomery
Objective: We investigated mitochondrial DNA (mtDNA) variants in children with a first episode of acquired demyelinating syndromes (PD-ADS) of the CNS and their relationship to disease phenotype, including subsequent diagnosis of multiple sclerosis (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::714051a5fc4033a0d70d3e9848bb6205
https://europepmc.org/articles/PMC3053335/
https://europepmc.org/articles/PMC3053335/
Publikováno v:
Clinical genetics. 68(4)
Holoprosencephaly (HPE) is a genetically heterogeneous developmental field defect in which midline cleavage of the forebrain and craniofacial structures is impaired. Based on the analysis of HPE patients with chromosome rearrangements, at least six l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b9740fa67373737cf8695c24a5bf086f
https://pubmed.ncbi.nlm.nih.gov/16143022
https://pubmed.ncbi.nlm.nih.gov/16143022
Publikováno v:
Annals of neurology. 49(2)
Lafora disease (LD) is the only progressive myoclonus epilepsy with polyglucosan bodies. Among conditions with polyglucosan bodies, LD is unique for the subcellular location of its polyglucosans in neuronal perikarya and dendrites and not in axons. H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::64a8be7401b283943c5e48c3ac33c9ee
https://pubmed.ncbi.nlm.nih.gov/11220751
https://pubmed.ncbi.nlm.nih.gov/11220751
Publikováno v:
Brain research. Molecular brain research. 87(1)
The family of metabotropic glutamate receptors (mGluRs) consists of eight homologous G-protein coupled receptors. Several of the mGluRs, including the mGluR4 receptor subtype, are localized presynaptically; activation of this receptor induces an inhi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ebcd066f9af16ceb0c63c896e75d86fe
https://pubmed.ncbi.nlm.nih.gov/11223165
https://pubmed.ncbi.nlm.nih.gov/11223165
Autor:
S, Tosi, J, Harbott, A, Teigler-Schlegel, O A, Haas, H, Pirc-Danoewinata, C J, Harrison, A, Biondi, G, Cazzaniga, H, Kempski, S W, Scherer, L, Kearney
Publikováno v:
Genes, chromosomescancer. 29(4)
The ETV6 gene is rearranged as a result of translocations involving a wide variety of chromosomal partners. To date, 12 partner genes for ETV6 have been cloned, and a further 23 chromosomal regions have been described. We previously identified a cryp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::413cdb1fd49998730ffc53837656cbb8
https://pubmed.ncbi.nlm.nih.gov/11066076
https://pubmed.ncbi.nlm.nih.gov/11066076