Zobrazeno 1 - 10
of 15
pro vyhledávání: '"W E, Kaufmann"'
Publikováno v:
Journal of Intellectual Disability Research. 55:1064-1077
Background The diagnostic validity of autism spectrum disorder (ASD) based on Diagnostic and Statistical Manual of Mental Disorders (DSM) has been challenged in Down syndrome (DS), because of the high prevalence of cognitive impairments in this popul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1932be06338416b2e6ebffa9b03948c0
https://doi.org/10.1111/j.1365-2788.2011.01465.x
https://doi.org/10.1111/j.1365-2788.2011.01465.x
Publikováno v:
Journal of perinatology : official journal of the California Perinatal Association. 35(9)
Fetal and neonatal brain tumors are rare. Prenatal ultrasound aids early tumor detection. Nonetheless, we encountered a preterm neonate born at 32 weeks gestation with a massive supratentorial glioma, which was undetected on ultrasound at 19-6/7 week
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e72d5a127c0b00374c87521e08377f79
https://pubmed.ncbi.nlm.nih.gov/26310316
https://pubmed.ncbi.nlm.nih.gov/26310316
Publikováno v:
Journal of intellectual disability research : JIDR. 55(11)
The diagnostic validity of autism spectrum disorder (ASD) based on Diagnostic and Statistical Manual of Mental Disorders (DSM) has been challenged in Down syndrome (DS), because of the high prevalence of cognitive impairments in this population. Ther
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b208a9ca0aedb581cef9b6725b45465c
https://pubmed.ncbi.nlm.nih.gov/21883598
https://pubmed.ncbi.nlm.nih.gov/21883598
Publikováno v:
American journal of medical genetics. 103(1)
The search for targets of FMRP (the product of FMR1, the mutated gene in Fragile X syndrome) has predominantly focused on identifying transcripts that are regulated by this RNA-binding protein. This study introduces the use of two-dimensional gel ele
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::68d0f8387a78b1f9e35fd982069da201
https://pubmed.ncbi.nlm.nih.gov/11562939
https://pubmed.ncbi.nlm.nih.gov/11562939
Autor:
S, Mori, W E, Kaufmann, G D, Pearlson, B J, Crain, B, Stieltjes, M, Solaiyappan, P C, van Zijl
Publikováno v:
Annals of neurology. 47(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5847a163f9d9c8220cda10416837f318
https://pubmed.ncbi.nlm.nih.gov/10716271
https://pubmed.ncbi.nlm.nih.gov/10716271
Publikováno v:
American journal of medical genetics. 83(4)
The study of the neurobehavioral consequences of mutations of FMR1, the gene responsible for fragile X syndrome (FraX), has been based largely on correlations between mutation patterns and cognitive profile. Following the characterization of FMRP, th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e9d33ce8cd19fb5b2119a2df6acb1f03
https://pubmed.ncbi.nlm.nih.gov/10208163
https://pubmed.ncbi.nlm.nih.gov/10208163
Autor:
W E, Kaufmann, A L, Reiss
Publikováno v:
American journal of medical genetics. 88(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::85c3032a08c929aa450f4968f7a5da49
https://pubmed.ncbi.nlm.nih.gov/10050961
https://pubmed.ncbi.nlm.nih.gov/10050961
Autor:
M T, Abrams, W E, Kaufmann, F, Rousseau, B A, Oostra, B, Wolozin, C V, Taylor, N, Lishaa, M L, Morel, A, Hoogeveen, A L, Reiss
Publikováno v:
American journal of medical genetics. 82(1)
The fragile X mental retardation 1 gene (FMR1) mutation is strongly correlated with specific and marked neurobehavioral and neuroanatomical abnormalities. The protein product, FMRP, is highly expressed in neurons of the normal mammalian brain, and ab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::31051dda42d938b0e5a6c72039017e34
https://pubmed.ncbi.nlm.nih.gov/9916838
https://pubmed.ncbi.nlm.nih.gov/9916838
Autor:
H M, Belcher, B K, Shapiro, M, Leppert, A M, Butz, S, Sellers, E, Arch, K, Kolodner, M, Pulsifer, K, Lears, W E, Kaufmann
Publikováno v:
Annals of the New York Academy of Sciences. 846
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fc2748f47889ee3a03e45ab3ab6bb55a
https://pubmed.ncbi.nlm.nih.gov/9668425
https://pubmed.ncbi.nlm.nih.gov/9668425