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Quoted phrase not found in phrase index: "Intellectual disability, autosomal dominant 51"
Page 1
Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome.
Schwartz DD, Fein RH, Carvalho CMB, Sutton VR, Mazzeu JF, Axelrad ME. Schwartz DD, et al. Am J Med Genet A. 2021 Dec;185(12):3576-3583. doi: 10.1002/ajmg.a.61854. Epub 2020 Sep 21. Am J Med Genet A. 2021. PMID: 32954672
The objective of this study is to provide the first description of cognitive, adaptive, and psychological functioning in RS. Thirteen participants (10 males) aged 4-51 years were seen for neuropsychological screening. Eight had autosomal-dominant RS (DVL1, n …
The objective of this study is to provide the first description of cognitive, adaptive, and psychological functioning in RS. Thirteen partic …
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 …
Spastic paraplegia 51: phenotypic spectrum related to novel homozygous AP4E1 mutation.
Manoochehri J, Goodarzi HR, Tabei SMB. Manoochehri J, et al. J Genet. 2022;101:40. J Genet. 2022. PMID: 36226339 Free article.
Further, previous studies described an autosomal dominant mutation in the AP4E1 gene has also been linked to persistent stuttering. Here, we describe a patient from a consanguineous marriage who manifested severe intellectual disability (ID), absent sp …
Further, previous studies described an autosomal dominant mutation in the AP4E1 gene has also been linked to persistent stutte …
Neurodevelopmental disorder caused by an inherited novel KMT5B variant: case report.
Odak L, Vulin K, Meašić AM, Šamadan L, Tripalo Batoš A. Odak L, et al. Croat Med J. 2023 Oct 31;64(5):334-338. doi: 10.3325/cmj.2023.64.334. Croat Med J. 2023. PMID: 37927187 Free PMC article.
As recently discovered, the KMT5B gene is related to abnormal activities of the enzymes that regulate histone activity and gene expression during brain development. Pathogenic KMT5B gene variants lead to autosomal dominant, intellectual developmental disorder …
As recently discovered, the KMT5B gene is related to abnormal activities of the enzymes that regulate histone activity and gene expression d …
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. ...Of the 38 female subjects, 17 (44.7%) had at least one abnormality, including umbilical hernia in 11 (28.9%), unilateral inguinal hernia i …
OBJECTIVE: Williams-Beuren syndrome (WBS) is an autosomal dominant disorder caused by a gene deletion on chromosome 7q11.23. . …
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 …
Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA.
Angelini C, Thibaud M, Aladjidi N, Bessou P, Cabasson S, Colson C, Espil-Taris C, Goizet C, Husson M, Morice-Picard F, De Sandre-Giovannoli A, Pédespan JM. Angelini C, et al. Neuropediatrics. 2020 Aug;51(4):245-250. doi: 10.1055/s-0040-1701671. Epub 2020 Mar 6. Neuropediatrics. 2020. PMID: 32143220
Cutis laxa is a heterogeneous group of diseases, characterized by abundant and wrinkled skin and a variable degree of intellectual disability. Cutis laxa, autosomal recessive, type IIIA and autosomal dominant 3 syndromes are caused by autosom …
Cutis laxa is a heterogeneous group of diseases, characterized by abundant and wrinkled skin and a variable degree of intellectual …
Congenital and inherited ophthalmologic abnormalities.
Arora P, Tullu MS, Muranjan MN, Kerkar SP, Girisha KM, Bharucha BA. Arora P, et al. Indian J Pediatr. 2003 Jul;70(7):549-52. doi: 10.1007/BF02723156. Indian J Pediatr. 2003. PMID: 12940376
Relevant clinical details (including an ophthalmologic examination) and investigations were recorded. RESULT: Of the 1308 patients enrolled, 679 (51.9%) had ophthalmologic abnormalities. 458 cases (67.45%) out of these 679 had mental retardation and 20 (2.94%) had neuroreg …
Relevant clinical details (including an ophthalmologic examination) and investigations were recorded. RESULT: Of the 1308 patients enrolled, …