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Quoted phrase not found in phrase index: "Intellectual disability, autosomal dominant 20"
Page 1
Alzheimer's disease associated with Down syndrome: a genetic form of dementia.
Fortea J, Zaman SH, Hartley S, Rafii MS, Head E, Carmona-Iragui M. Fortea J, et al. Lancet Neurol. 2021 Nov;20(11):930-942. doi: 10.1016/S1474-4422(21)00245-3. Lancet Neurol. 2021. PMID: 34687637 Free PMC article. Review.
Diagnosis of dementia remains a clinical challenge because of the lack of validated diagnostic criteria in this population, and because symptoms are overshadowed by the intellectual disability associated with Down syndrome. In people with Down syndrome, fluid and im …
Diagnosis of dementia remains a clinical challenge because of the lack of validated diagnostic criteria in this population, and because symp …
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM Jr, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F. Sheppard SE, et al. Am J Med Genet A. 2021 Jun;185(6):1649-1665. doi: 10.1002/ajmg.a.62124. Epub 2021 Mar 30. Am J Med Genet A. 2021. PMID: 33783954 Free PMC article.
Wiedemann-Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic variants in KMT2A and characterized by intellectual disability and hypertrichosis. ...Common clinical features identified in the cohort included: developmental del …
Wiedemann-Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic variants in KMT2A and characterized b …
Clinical experience with non-invasive prenatal screening for single-gene disorders.
Mohan P, Lemoine J, Trotter C, Rakova I, Billings P, Peacock S, Kao CY, Wang Y, Xia F, Eng CM, Benn P. Mohan P, et al. Ultrasound Obstet Gynecol. 2022 Jan;59(1):33-39. doi: 10.1002/uog.23756. Ultrasound Obstet Gynecol. 2022. PMID: 34358384 Free PMC article.
METHODS: Cell-free fetal DNA isolated from maternal plasma samples accessioned from 14 April 2017 to 27 November 2019 was analyzed by next-generation sequencing, targeting 30 genes, to look for pathogenic or likely pathogenic variants implicated in 25 dominant conditions. …
METHODS: Cell-free fetal DNA isolated from maternal plasma samples accessioned from 14 April 2017 to 27 November 2019 was analyzed by next-g …
Tau PET Imaging for Staging of Alzheimer's Disease in Down Syndrome.
Rafii MS. Rafii MS. Dev Neurobiol. 2019 Jul;79(7):711-715. doi: 10.1002/dneu.22658. Epub 2018 Dec 16. Dev Neurobiol. 2019. PMID: 30536948 Review.
The development of radiolabeled positron emission tomography (PET) ligands for amyloid plaques and tau tangles enables the longitudinal assessment of the spatial pattern of their accumulation in relation to symptomatology. Recent work indicates that amyloid pathology develops 15- …
The development of radiolabeled positron emission tomography (PET) ligands for amyloid plaques and tau tangles enables the longitudinal asse …
Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.
Lin L, Zhang Y, Pan H, Wang J, Qi Y, Ma Y. Lin L, et al. Orphanet J Rare Dis. 2020 Nov 11;15(1):317. doi: 10.1186/s13023-020-01599-y. Orphanet J Rare Dis. 2020. PMID: 33176815 Free PMC article.
BACKGROUND: Global developmental delay/intellectual disability (GDD/ID), used to be named as mental retardation (MR), is one of the most common phenotypes in neurogenetic diseases. ...The most common inheritance patterns in this outbred Chinese population were au …
BACKGROUND: Global developmental delay/intellectual disability (GDD/ID), used to be named as mental retardation (MR), is one o …
Comparison of CSF biomarkers in Down syndrome and autosomal dominant Alzheimer's disease: a cross-sectional study.
Fagan AM, Henson RL, Li Y, Boerwinkle AH, Xiong C, Bateman RJ, Goate A, Ances BM, Doran E, Christian BT, Lai F, Rosas HD, Schupf N, Krinsky-McHale S, Silverman W, Lee JH, Klunk WE, Handen BL, Allegri RF, Chhatwal JP, Day GS, Graff-Radford NR, Jucker M, Levin J, Martins RN, Masters CL, Mori H, Mummery CJ, Niimi Y, Ringman JM, Salloway S, Schofield PR, Shoji M, Lott IT; Alzheimer's Biomarker Consortium–Down Syndrome; Dominantly Inherited Alzheimer Network. Fagan AM, et al. Lancet Neurol. 2021 Aug;20(8):615-626. doi: 10.1016/S1474-4422(21)00139-3. Lancet Neurol. 2021. PMID: 34302786 Free PMC article.
We aimed to compare CSF biomarker patterns in Down syndrome with those of carriers of autosomal dominant Alzheimer's disease mutations to enhance our understanding of disease mechanisms in these two genetic groups at high risk for Alzheimer's disease. ...Participant …
We aimed to compare CSF biomarker patterns in Down syndrome with those of carriers of autosomal dominant Alzheimer's disease m …
Novel SETBP1 mutation in a chinese family with intellectual disability.
Wang L, Wang XD, Yang B, Wang XM, Peng YQ, Tan HJ, Xiao HM. Wang L, et al. BMC Med Genomics. 2023 Oct 5;16(1):233. doi: 10.1186/s12920-023-01649-x. BMC Med Genomics. 2023. PMID: 37798664 Free PMC article.

BACKGROUND: Intellectual disability (ID) is characterized by an IQ < 70, which implies below-average intellectual function and a lack of skills necessary for daily living. ...Furthermore, we observed that SETBP1 expression in patients was only 20% t

…

BACKGROUND: Intellectual disability (ID) is characterized by an IQ < 70, which implies below-average intellectual fu

…
Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome.
Gorijala P, Aslam MM, Dang LT, Xicota L, Fernandez MV, Sung YJ, Fan KH, Feingold E, Surace EI, Chhatwal JP, Hom CL; Dominantly Inherited Alzheimer Network (DIAN), the Alzheimer's Disease Neuroimaging Initiative (ADNI); NIA-LOAD family study, for the Alzheimer's Biomarkers Consortium-Down Syndrome (ABC-DS) Investigators; Hartley SL, Hassenstab J, Perrin RJ, Mapstone M, Zaman SH, Ances BM, Kamboh MI, Lee JH, Cruchaga C. Gorijala P, et al. Alzheimers Dement. 2024 Feb;20(2):1038-1049. doi: 10.1002/alz.13506. Epub 2023 Oct 19. Alzheimers Dement. 2024. PMID: 37855447 Free PMC article.
On the other hand, lower DS Mental Status Examination memory scores were associated with higher PRS, independent of intellectual disability and APOE (PRS including APOE, PRS(APOE) , p = 2.84 10(-4) ; PRS excluding APOE, PRS(nonAPOE) , p = 1.60 10(-2) ). ...
On the other hand, lower DS Mental Status Examination memory scores were associated with higher PRS, independent of intellectual d …
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study.
Raviglione F, Douzgou S, Scala M, Mingarelli A, D'Arrigo S, Freri E, Darra F, Giglio S, Bonaglia MC, Pantaleoni C, Mastrangelo M, Epifanio R, Elia M, Saletti V, Morlino S, Vari MS, De Liso P, Pavaine J, Spaccini L, Cattaneo E, Gardella E, Møller RS, Marchese F, Colonna C, Gandioli C, Gobbi G, Ram D, Palumbo O, Carella M, Germano M, Tonduti D, De Angelis D, Caputo D, Bergonzini P, Novara F, Zuffardi O, Verrotti A, Orsini A, Bonuccelli A, De Muto MC, Trivisano M, Vigevano F, Granata T, Bernardina BD, Tranchina A, Striano P. Raviglione F, et al. Seizure. 2021 May;88:60-72. doi: 10.1016/j.seizure.2021.03.025. Epub 2021 Mar 30. Seizure. 2021. PMID: 33831796 Free article.
PURPOSE: Epilepsy is a main manifestation in the autosomal dominant mental retardation syndrome caused by heterozygous variants in MEF2C. ...Febrile and myoclonic seizures are the most frequent, usually associated with a slowing of the background activity and irregu …
PURPOSE: Epilepsy is a main manifestation in the autosomal dominant mental retardation syndrome caused by heterozygous variant …
Muenke syndrome: An international multicenter natural history study.
Kruszka P, Addissie YA, Yarnell CM, Hadley DW, Guillen Sacoto MJ, Platte P, Paelecke Y, Collmann H, Snow N, Schweitzer T, Boyadjiev SA, Aravidis C, Hall SE, Mulliken JB, Roscioli T, Muenke M. Kruszka P, et al. Am J Med Genet A. 2016 Apr;170A(4):918-29. doi: 10.1002/ajmg.a.37528. Epub 2016 Jan 6. Am J Med Genet A. 2016. PMID: 26740388
Muenke syndrome is an autosomal dominant disorder characterized by coronal suture craniosynostosis, hearing loss, developmental delay, carpal, and calcaneal fusions, and behavioral differences. ...Hearing loss was identified in 70.8%, developmental delay in 66.3%, …
Muenke syndrome is an autosomal dominant disorder characterized by coronal suture craniosynostosis, hearing loss, developmenta …
31 results