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Quoted phrase not found in phrase index: "Intellectual disability, autosomal dominant 46"
Page 1
Association of Alzheimer Disease With Life Expectancy in People With Down Syndrome.
Iulita MF, Garzón Chavez D, Klitgaard Christensen M, Valle Tamayo N, Plana-Ripoll O, Rasmussen SA, Roqué Figuls M, Alcolea D, Videla L, Barroeta I, Benejam B, Altuna M, Padilla C, Pegueroles J, Fernandez S, Belbin O, Carmona-Iragui M, Blesa R, Lleó A, Bejanin A, Fortea J. Iulita MF, et al. JAMA Netw Open. 2022 May 2;5(5):e2212910. doi: 10.1001/jamanetworkopen.2022.12910. JAMA Netw Open. 2022. PMID: 35604690 Free PMC article.
OBJECTIVE: To assess whether the variability in symptom onset of Alzheimer disease in Down syndrome is similar to autosomal dominant Alzheimer disease and to assess its association with mortality. ...The variability in disease onset was compared with that of auto …
OBJECTIVE: To assess whether the variability in symptom onset of Alzheimer disease in Down syndrome is similar to autosomal domina …
Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region.
Ye XC, Roslin NM, Paterson AD, Lyons CJ, Pegado V, Richmond P, Shyr C, Fornes O, Han X, Higginson M, Ross CJ, Giaschi D, Gregory-Evans C, Patel MS, Wasserman WW. Ye XC, et al. J Med Genet. 2022 Jan;59(1):46-55. doi: 10.1136/jmedgenet-2020-107226. Epub 2020 Nov 30. J Med Genet. 2022. PMID: 33257509 Free PMC article.
The current study is based on a seven-generation family with isolated strabismus inherited in an autosomal dominant manner. A total of 13 individuals from a common ancestor have been included for linkage analysis. ...With the incorporation of next-generation sequenc …
The current study is based on a seven-generation family with isolated strabismus inherited in an autosomal dominant manner. A …