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Quoted phrase not found in phrase index: "Intellectual disability, autosomal dominant 45"
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.
OBJECTIVE: To assess the performance of a non-invasive prenatal screening test (NIPT) for a panel of dominant single-gene disorders (SGD) with a combined population incidence of 1 in 600. METHODS: Cell-free fetal DNA isolated from maternal plasma samples accessioned from 1 …
OBJECTIVE: To assess the performance of a non-invasive prenatal screening test (NIPT) for a panel of dominant single-gene disorders ( …
Etiology and recurrence risk in Rubinstein-Taybi syndrome.
Hennekam RC, Stevens CA, Van de Kamp JJ. Hennekam RC, et al. Am J Med Genet Suppl. 1990;6:56-64. doi: 10.1002/ajmg.1320370610. Am J Med Genet Suppl. 1990. PMID: 2118780 Review.
The cause of the syndrome remains unknown. There were no clues for autosomal recessive or X-linked inheritance, nor for a teratogenic cause. No consistent chromosome anomaly was found. An autosomal dominant mutation, either as submicroscopic chromosome deleti …
The cause of the syndrome remains unknown. There were no clues for autosomal recessive or X-linked inheritance, nor for a teratogenic …
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 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 …
Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders.
Hagberg BA, Blennow G, Kristiansson B, Stibler H. Hagberg BA, et al. Pediatr Neurol. 1993 Jul-Aug;9(4):255-62. doi: 10.1016/0887-8994(93)90060-p. Pediatr Neurol. 1993. PMID: 8216537 Review.
A new group of metabolic disorders, the carbohydrate-deficient glycoprotein (CDG) syndromes, is reviewed with emphasis on the key condition, the CDG syndrome type I. This disease, an autosomal-recessive multisystem condition, has now been diagnosed in 45 Scandinavia …
A new group of metabolic disorders, the carbohydrate-deficient glycoprotein (CDG) syndromes, is reviewed with emphasis on the key condition, …
Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.
Jones AC, Daniells CE, Snell RG, Tachataki M, Idziaszczyk SA, Krawczak M, Sampson JR, Cheadle JP. Jones AC, et al. Hum Mol Genet. 1997 Nov;6(12):2155-61. doi: 10.1093/hmg/6.12.2155. Hum Mol Genet. 1997. PMID: 9328481
Tuberous sclerosis (TSC) is an autosomal dominant disorder characterised by the development of hamartomatous growths in many organs. ...In contrast, a limited screen revealed TSC2 mutations in two of the familial cases and in 45 of the sporadic cases. Thus TS …
Tuberous sclerosis (TSC) is an autosomal dominant disorder characterised by the development of hamartomatous growths in many o …
Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.
Vasilyeva TA, Voskresenskaya AA, Käsmann-Kellner B, Khlebnikova OV, Pozdeyeva NA, Bayazutdinova GM, Kutsev SI, Ginter EK, Semina EV, Marakhonov AV, Zinchenko RA. Vasilyeva TA, et al. Clin Genet. 2017 Dec;92(6):639-644. doi: 10.1111/cge.13019. Epub 2017 Aug 2. Clin Genet. 2017. PMID: 28321846
Congenital aniridia is a severe autosomal dominant congenital panocular disorder, mainly associated with pathogenic variants in the PAX6 gene. ...In our cohort, we saw a previously not described high percentage of patients (45%) who showed non-ocular phenotyp …
Congenital aniridia is a severe autosomal dominant congenital panocular disorder, mainly associated with pathogenic variants i …
TDP-43 pathological changes in early onset familial and sporadic Alzheimer's disease, late onset Alzheimer's disease and Down's syndrome: association with age, hippocampal sclerosis and clinical phenotype.
Davidson YS, Raby S, Foulds PG, Robinson A, Thompson JC, Sikkink S, Yusuf I, Amin H, DuPlessis D, Troakes C, Al-Sarraj S, Sloan C, Esiri MM, Prasher VP, Allsop D, Neary D, Pickering-Brown SM, Snowden JS, Mann DM. Davidson YS, et al. Acta Neuropathol. 2011 Dec;122(6):703-13. doi: 10.1007/s00401-011-0879-y. Epub 2011 Oct 4. Acta Neuropathol. 2011. PMID: 21968532
TDP-43 immunoreactive (TDP-43-ir) pathological changes were investigated in the temporal cortex and hippocampus of 11 patients with autosomal dominant familial forms of Alzheimer's disease (FAD), 169 patients with sporadic AD [85 with early onset disease (EOAD) (i.e …
TDP-43 immunoreactive (TDP-43-ir) pathological changes were investigated in the temporal cortex and hippocampus of 11 patients with autos …
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
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 neuroregression. ...Mucopolysaccharidoses (21.4%), Wilson disease (19.64%), oculocutaneous albinism (16.07%) a …
RESULT: Of the 1308 patients enrolled, 679 (51.9%) had ophthalmologic abnormalities. 458 cases (67.45%) out of these 679 had mental r …
An etiological survey of the severely retarded Hertfordshire children who were born between January 1, 1965 and December 31, 1967.
Laxova R, Ridler MA, Bowen-Bravery M. Laxova R, et al. Am J Med Genet. 1977;1(1):75-86. doi: 10.1002/ajmg.1320010109. Am J Med Genet. 1977. PMID: 147626
Approximately 1/3 (47) had the Down syndrome, 1 per 1,000 population. It was possible to establish a diagnosis in a further 45 cases, which included 1 additional case of autosomal chromosome abnormality and 7 each of autosomal dominant, recessive and X …
Approximately 1/3 (47) had the Down syndrome, 1 per 1,000 population. It was possible to establish a diagnosis in a further 45 cases, …
11 results