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Quoted phrase not found in phrase index: "Intellectual developmental disorder, autosomal dominant 73"
Page 1
Comparison of amyloid burden in individuals with Down syndrome versus autosomal dominant Alzheimer's disease: a cross-sectional study.
Boerwinkle AH, Gordon BA, Wisch J, Flores S, Henson RL, Butt OH, McKay N, Chen CD, Benzinger TLS, Fagan AM, Handen BL, Christian BT, Head E, Mapstone M, Rafii MS, O'Bryant S, Lai F, Rosas HD, Lee JH, Silverman W, Brickman AM, Chhatwal JP, Cruchaga C, Perrin RJ, Xiong C, Hassenstab J, McDade E, Bateman RJ, Ances BM; Alzheimer's Biomarker Consortium-Down Syndrome; Dominantly Inherited Alzheimer Network. Boerwinkle AH, et al. Lancet Neurol. 2023 Jan;22(1):55-65. doi: 10.1016/S1474-4422(22)00408-2. Lancet Neurol. 2023. PMID: 36517172 Free PMC article.
BACKGROUND: Important insights into the early pathogenesis of Alzheimer's disease can be provided by studies of autosomal dominant Alzheimer's disease and Down syndrome. However, it is unclear whether the timing and spatial distribution of amyloid accumulation diffe …
BACKGROUND: Important insights into the early pathogenesis of Alzheimer's disease can be provided by studies of autosomal dominant …
Rubinstein-Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach.
Ajmone PF, Avignone S, Gervasini C, Giacobbe A, Monti F, Costantino A, Esposito S, Marchisio P, Triulzi F, Milani D. Ajmone PF, et al. Am J Med Genet B Neuropsychiatr Genet. 2018 Jun;177(4):406-415. doi: 10.1002/ajmg.b.32628. Epub 2018 Apr 10. Am J Med Genet B Neuropsychiatr Genet. 2018. PMID: 29637745
Rubinstein-Taybi syndrome is a rare, autosomal dominant, plurimalformative disorder that is clinically characterized by intellectual disability and a wide spectrum of congenital anomalies; facial dysmorphisms are typical, and broad thumbs and gr …
Rubinstein-Taybi syndrome is a rare, autosomal dominant, plurimalformative disorder that is clinically characterized by …
Congenital genitourinary abnormalities in children with Williams-Beuren syndrome.
Sammour ZM, Gomes CM, de Bessa J Jr, Pinheiro MS, Kim CA, Hisano M, Bruschini H, Srougi M. Sammour ZM, et al. J Pediatr Urol. 2014 Oct;10(5):804-9. doi: 10.1016/j.jpurol.2014.01.013. Epub 2014 Feb 13. J Pediatr Urol. 2014. PMID: 24582571
OBJECTIVE: Williams-Beuren syndrome (WBS) is an autosomal dominant disorder caused by a gene deletion on chromosome 7q11.23. Patients with WBS usually show a group of features such as developmental delay, cardiovascular anomalies, mental retardation, a …
OBJECTIVE: Williams-Beuren syndrome (WBS) is an autosomal dominant disorder caused by a gene deletion on chromosome 7q1 …
Profiles of neuromuscular diseases. Limb-girdle syndromes.
McDonald CM, Johnson ER, Abresch RT, Carter GT, Fowler WM Jr, Kilmer DD. McDonald CM, et al. Am J Phys Med Rehabil. 1995 Sep-Oct;74(5 Suppl):S117-30. doi: 10.1097/00002060-199509001-00006. Am J Phys Med Rehabil. 1995. PMID: 7576419
Sixty-six individuals with Limb-Girdle Syndrome (LGS) were evaluated over a 10-yr period and classified into three types: 19 severe autosomal recessive muscular dystrophy of childhood (ARMDC), alternatively referred to by some as SCARMD, 18 autosomal dominant …
Sixty-six individuals with Limb-Girdle Syndrome (LGS) were evaluated over a 10-yr period and classified into three types: 19 severe autos …
Comparison of longitudinal Aβ in nondemented elderly and Down syndrome.
Tudorascu DL, Anderson SJ, Minhas DS, Yu Z, Comer D, Lao P, Hartley S, Laymon CM, Snitz BE, Lopresti BJ, Johnson S, Price JC, Mathis CA, Aizenstein HJ, Klunk WE, Handen BL, Christian BT, Cohen AD. Tudorascu DL, et al. Neurobiol Aging. 2019 Jan;73:171-176. doi: 10.1016/j.neurobiolaging.2018.09.030. Epub 2018 Sep 27. Neurobiol Aging. 2019. PMID: 30359879 Free PMC article.
Using Pittsburgh Compound B ([(11)C]PiB), a pattern of striatal amyloid beta (Abeta) that is elevated relative to neocortical binding has been reported, similar to that of nondemented autosomal dominant AD mutation carriers. However, it is not known whether changes …
Using Pittsburgh Compound B ([(11)C]PiB), a pattern of striatal amyloid beta (Abeta) that is elevated relative to neocortical binding has be …
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.
Jones GE, Ostergaard P, Moore AT, Connell FC, Williams D, Quarrell O, Brady AF, Spier I, Hazan F, Moldovan O, Wieczorek D, Mikat B, Petit F, Coubes C, Saul RA, Brice G, Gordon K, Jeffery S, Mortimer PS, Vasudevan PC, Mansour S. Jones GE, et al. Eur J Hum Genet. 2014 Jul;22(7):881-7. doi: 10.1038/ejhg.2013.263. Epub 2013 Nov 27. Eur J Hum Genet. 2014. PMID: 24281367 Free PMC article.
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR) (MIM No.152950) is a rare autosomal dominant condition for which a causative gene has recently been identified. ...In our cohort, 86% had microcephaly, 78% had an ocular abnor …
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR) (MIM No.152950) is a rare autosomal dom …