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Quoted phrase not found in phrase index: "Intellectual disability, autosomal dominant 43"
Page 1
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.
Lin SJ, Vona B, Porter HM, Izadi M, Huang K, Lacassie Y, Rosenfeld JA, Khan S, Petree C, Ali TA, Muhammad N, Khan SA, Muhammad N, Liu P, Haymon ML, Rüschendorf F, Kong IK, Schnapp L, Shur N, Chorich L, Layman L, Haaf T, Pourkarimi E, Kim HG, Varshney GK. Lin SJ, et al. Hum Mutat. 2022 Oct;43(10):1472-1489. doi: 10.1002/humu.24435. Epub 2022 Jul 21. Hum Mutat. 2022. PMID: 35815345
Variants in ARS genes are frequently associated with clinically heterogeneous phenotypes in humans and follow both autosomal dominant or recessive inheritance patterns in many instances. ...(Asp419Asn)) in WARS1, showing varying severities of developmental delay and …
Variants in ARS genes are frequently associated with clinically heterogeneous phenotypes in humans and follow both autosomal domin …
Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndrome.
Nagai K, Niihori T, Okamoto N, Kondo A, Suga K, Ohhira T, Hayabuchi Y, Homma Y, Nakagawa R, Ifuku T, Abe T, Mizuguchi T, Matsumoto N, Aoki Y. Nagai K, et al. Hum Mutat. 2022 Jan;43(1):3-15. doi: 10.1002/humu.24287. Epub 2021 Oct 11. Hum Mutat. 2022. PMID: 34618388
Costello syndrome (CS) is an autosomal-dominant disorder characterized by distinctive facial features, hypertrophic cardiomyopathy, skeletal abnormalities, intellectual disability, and predisposition to cancers. ...Injection of wild-type or mutant HRAS …
Costello syndrome (CS) is an autosomal-dominant disorder characterized by distinctive facial features, hypertrophic cardiomyop …
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
We compared the magnitude, spatial extent, and temporal ordering of tau spread in people with Down syndrome and autosomal-dominant Alzheimer's disease. METHODS: In this cross-sectional observational study, we included participants (aged 25 years) from two coh …
We compared the magnitude, spatial extent, and temporal ordering of tau spread in people with Down syndrome and autosomal-dominant …
From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome.
Onesimo R, Sforza E, Trevisan V, Leoni C, Giorgio V, Rigante D, Kuczynska EM, Proli F, Agazzi C, Limongelli D, Digilio MC, Dentici ML, Macchiaiolo M, Novelli A, Bartuli A, Sinibaldi L, Tartaglia M, Zampino G. Onesimo R, et al. Genes (Basel). 2023 Sep 22;14(10):1843. doi: 10.3390/genes14101843. Genes (Basel). 2023. PMID: 37895192 Free PMC article.
CTNNB1 syndrome is an autosomal-dominant neurodevelopmental disorder featuring developmental delay; intellectual disability; behavioral disturbances; movement disorders; visual defects; and subtle facial features caused by de novo loss-of-function vari …
CTNNB1 syndrome is an autosomal-dominant neurodevelopmental disorder featuring developmental delay; intellectual dis …
Oculo-dento-digital dysplasia: lack of genotype-phenotype correlation for GJA1 mutations and usefulness of neuro-imaging.
Alao MJ, Bonneau D, Holder-Espinasse M, Goizet C, Manouvrier-Hanu S, Mezel A, Petit F, Subtil D, Magdelaine C, Lacombe D. Alao MJ, et al. Eur J Med Genet. 2010 Jan-Feb;53(1):19-22. doi: 10.1016/j.ejmg.2009.08.007. Epub 2009 Oct 4. Eur J Med Genet. 2010. PMID: 19808103 Free article.
Oculo-dento-digital dysplasia (ODDD) is an autosomal dominant disorder with complete penetrance and high intra- and interfamilial phenotypic variability. ...Two patients had white matter hypersignal anomalies, associated in one case with mental retardation, but asym …
Oculo-dento-digital dysplasia (ODDD) is an autosomal dominant disorder with complete penetrance and high intra- and interfamil …