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Quoted phrase not found in phrase index: "Intellectual disability, autosomal dominant 27"
Page 1
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 condi …
METHODS: Cell-free fetal DNA isolated from maternal plasma samples accessioned from 14 April 2017 to 27 November 2019 was analyzed by …
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Wojcik MH, Srivastava S, Agrawal PB, Balci TB, Callewaert B, Calvo PL, Carli D, Caudle M, Colaiacovo S, Cross L, Demetriou K, Drazba K, Dutra-Clarke M, Edwards M, Genetti CA, Grange DK, Hickey SE, Isidor B, Küry S, Lachman HM, Lavillaureix A, Lyons MJ, Marcelis C, Marco EJ, Martinez-Agosto JA, Nowak C, Pizzol A, Planes M, Prijoles EJ, Riberi E, Rush ET, Russell BE, Sachdev R, Schmalz B, Shears D, Stevenson DA, Wilson K, Jansen S, de Vries BBA, Curry CJ. Wojcik MH, et al. Am J Med Genet A. 2023 Jul;191(7):1900-1910. doi: 10.1002/ajmg.a.63226. Epub 2023 May 14. Am J Med Genet A. 2023. PMID: 37183572
Clinical data were provided by treating physicians and/or families. Of the 37 individuals, 27 were male and 10 female, with median age 8.75 years (range 8 months to 62 years). Four families document autosomal dominant transmission, and 32/34 probands were dia …
Clinical data were provided by treating physicians and/or families. Of the 37 individuals, 27 were male and 10 female, with median ag …
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 …
Comparison of tau spread in people with Down syndrome versus autosomal-dominant Alzheimer's disease: a cross-sectional study.
Wisch JK, McKay NS, Boerwinkle AH, Kennedy J, Flores S, Handen BL, Christian BT, Head E, Mapstone M, Rafii MS, O'Bryant SE, Price JC, Laymon CM, Krinsky-McHale SJ, Lai F, Rosas HD, Hartley SL, Zaman S, Lott IT, Tudorascu D, Zammit M, Brickman AM, Lee JH, Bird TD, Cohen A, Chrem P, Daniels A, Chhatwal JP, Cruchaga C, Ibanez L, Jucker M, Karch CM, Day GS, Lee JH, Levin J, Llibre-Guerra J, Li Y, Lopera F, Roh JH, Ringman JM, Supnet-Bell C, van Dyck CH, Xiong C, Wang G, Morris JC, McDade E, Bateman RJ, Benzinger TLS, Gordon BA, Ances BM; Alzheimer's Biomarker Consortium-Down syndrome; Dominantly Inherited Alzheimer Network. Wisch JK, et al. Lancet Neurol. 2024 May;23(5):500-510. doi: 10.1016/S1474-4422(24)00084-X. Lancet Neurol. 2024. PMID: 38631766
FINDINGS: We included 137 people with Down syndrome (mean age 38.5 years [SD 8.2], 74 [54%] male, and 63 [46%] female), 49 individuals with autosomal-dominant Alzheimer's disease (mean age 43.9 years [11.2], 22 [45%] male, and 27 [55%] female), and 85 familia …
FINDINGS: We included 137 people with Down syndrome (mean age 38.5 years [SD 8.2], 74 [54%] male, and 63 [46%] female), 49 individuals with …
Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients.
Zhao J, Lyu G, Ding C, Wang X, Li J, Zhang W, Yang X, Zhang VW. Zhao J, et al. Mol Genet Genomic Med. 2022 Mar;10(3):e1825. doi: 10.1002/mgg3.1825. Epub 2022 Feb 14. Mol Genet Genomic Med. 2022. PMID: 35156329 Free PMC article.
RESULTS: A 4-year-old boy was diagnosed with severe developmental delay and with specific features (large head, full cheeks, high hairline, low-set ear, sparse eyebrows, and short neck) similar to his mother (mild intellectual disability, high hairline, reduced hair …
RESULTS: A 4-year-old boy was diagnosed with severe developmental delay and with specific features (large head, full cheeks, high hairline, …
Clinical whole exome sequencing in child neurology practice.
Srivastava S, Cohen JS, Vernon H, Barañano K, McClellan R, Jamal L, Naidu S, Fatemi A. Srivastava S, et al. Ann Neurol. 2014 Oct;76(4):473-83. doi: 10.1002/ana.24251. Epub 2014 Aug 30. Ann Neurol. 2014. PMID: 25131622
RESULTS: The overall presumptive diagnostic rate for our cohort was 41% (n = 32 of 78 patients). Nineteen patients had a single autosomal dominant (AD) disorder, 11 had a single autosomal recessive (AR) disorder, 1 had an X-linked dominant disorder, an …
RESULTS: The overall presumptive diagnostic rate for our cohort was 41% (n = 32 of 78 patients). Nineteen patients had a single autosomal …
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.
Pavinato L, Villamor-Payà M, Sanchiz-Calvo M, Andreoli C, Gay M, Vilaseca M, Arauz-Garofalo G, Ciolfi A, Bruselles A, Pippucci T, Prota V, Carli D, Giorgio E, Radio FC, Antona V, Giuffrè M, Ranguin K, Colson C, De Rubeis S, Dimartino P, Buxbaum JD, Ferrero GB, Tartaglia M, Martinelli S, Stracker TH, Brusco A. Pavinato L, et al. J Med Genet. 2022 Feb;59(2):170-179. doi: 10.1136/jmedgenet-2020-107281. Epub 2020 Dec 15. J Med Genet. 2022. PMID: 33323470 Free PMC article.
Mutations in TLK2 were recently associated with 'Mental Retardation Autosomal Dominant 57' (MRD57, MIM# 618050), a neurodevelopmental disorder characterised by a highly variable phenotype, including mild-to-moderate intellectual disability, behavioural …
Mutations in TLK2 were recently associated with 'Mental Retardation Autosomal Dominant 57' (MRD57, MIM# 618050), a neurodevelo …
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. ...On DMSA, performed in 36 patients, four (11.1%) had unilateral renal scarring and two (5.5%) had bilateral renal scarring. Cystourethrogra …
OBJECTIVE: Williams-Beuren syndrome (WBS) is an autosomal dominant disorder caused by a gene deletion on chromosome 7q11.23. . …
Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review.
Castori M, Valiante M, Pascolini G, Leuzzi V, Pizzuti A, Grammatico P. Castori M, et al. Eur J Med Genet. 2013 Oct;56(10):570-6. doi: 10.1016/j.ejmg.2013.08.004. Epub 2013 Aug 27. Eur J Med Genet. 2013. PMID: 23994350 Review.
Zimmermann-Laband syndrome (ZLS) is a rare MCA/MR condition mainly characterized by gingival hypertrophy, hypo/aplastic nails and distal phalanges, hypertrichosis and intellectual disability. The molecular basis of ZLS is unknown. Most patients are sporadic, althoug …
Zimmermann-Laband syndrome (ZLS) is a rare MCA/MR condition mainly characterized by gingival hypertrophy, hypo/aplastic nails and distal pha …
TP63-related disorders: two case reports and a brief review of the literature.
Nanda A, AlLafi A, Wolf S, AlMasry IM, Betz R. Nanda A, et al. Dermatol Online J. 2021 Nov 15;27(11). doi: 10.5070/D3271156088. Dermatol Online J. 2021. PMID: 35130400 Review.
TP63-related disorders comprise a group of six overlapping autosomal dominant (AD) syndromes caused by heterozygous pathogenic variants in the tumor protein p63 gene (TP63). ...
TP63-related disorders comprise a group of six overlapping autosomal dominant (AD) syndromes caused by heterozygous pathogenic …
16 results