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Quoted phrase not found in phrase index: "Intellectual disability, autosomal dominant 24"
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 …
Individuals with FOXP1 syndrome present with a complex neurobehavioral profile with high rates of ADHD, anxiety, repetitive behaviors, and sensory symptoms.
Trelles MP, Levy T, Lerman B, Siper P, Lozano R, Halpern D, Walker H, Zweifach J, Frank Y, Foss-Feig J, Kolevzon A, Buxbaum J. Trelles MP, et al. Mol Autism. 2021 Sep 29;12(1):61. doi: 10.1186/s13229-021-00469-z. Mol Autism. 2021. PMID: 34588003 Free PMC article.
BACKGROUND: FOXP1 syndrome is an autosomal dominant neurodevelopmental disorder characterized by intellectual disability, developmental delay, speech and language delays, and externalizing behaviors. ...We report results from this cohort both alone, an …
BACKGROUND: FOXP1 syndrome is an autosomal dominant neurodevelopmental disorder characterized by intellectual disabi …
Heterozygous deletion of the LRFN2 gene is associated with working memory deficits.
Thevenon J, Souchay C, Seabold GK, Dygai-Cochet I, Callier P, Gay S, Corbin L, Duplomb L, Thauvin-Robinet C, Masurel-Paulet A, El Chehadeh S, Avila M, Minot D, Guedj E, Chancenotte S, Bonnet M, Lehalle D, Wang YX, Kuentz P, Huet F, Mosca-Boidron AL, Marle N, Petralia RS, Faivre L. Thevenon J, et al. Eur J Hum Genet. 2016 Jun;24(6):911-8. doi: 10.1038/ejhg.2015.221. Epub 2015 Oct 21. Eur J Hum Genet. 2016. PMID: 26486473 Free PMC article.
We report a unique family diagnosed with autosomal dominant learning disability and a 6p21 microdeletion segregating in three patients. ...Neuropsychological assessment identified selective working memory deficits, with borderline intellectual function …
We report a unique family diagnosed with autosomal dominant learning disability and a 6p21 microdeletion segregating in …
Genetic characterization of Schuurs-Hoeijmakers syndrome in a moroccan individual with heterozygote PACS1 mutation.
Abbassi M, Bourmtane A, Sayel H, El Mouhi H, Jalte M, Elasri YA, Askander O, El Fahime E, Bouguenouch L. Abbassi M, et al. Mol Biol Rep. 2023 Nov;50(11):9121-9128. doi: 10.1007/s11033-023-08803-9. Epub 2023 Sep 25. Mol Biol Rep. 2023. PMID: 37747683
BACKGROUND: Schuurs-Hoeijmakers syndrome, an autosomal dominant neurodevelopmental genetic disorder, is a rare cause of intellectual disability (ID) affecting approximately 1 to 3% of all over the world. ...CASE PRESENTATION: This study presents the fi …
BACKGROUND: Schuurs-Hoeijmakers syndrome, an autosomal dominant neurodevelopmental genetic disorder, is a rare cause of int …
Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late.
Minardi R, Licchetta L, Baroni MC, Pippucci T, Stipa C, Mostacci B, Severi G, Toni F, Bergonzini L, Carelli V, Seri M, Tinuper P, Bisulli F. Minardi R, et al. Clin Genet. 2020 Nov;98(5):477-485. doi: 10.1111/cge.13823. Epub 2020 Sep 1. Clin Genet. 2020. PMID: 32725632
Variants were classified according to the American College of Medical Genetics and Genomics guidelines. WES disclosed 24 (likely) pathogenic variants among 18 patients in epilepsy-related genes with either autosomal dominant, recessive or X-linked inheritance …
Variants were classified according to the American College of Medical Genetics and Genomics guidelines. WES disclosed 24 (likely) pat …
Sporadic and familial glut1ds Italian patients: A wide clinical variability.
De Giorgis V, Teutonico F, Cereda C, Balottin U, Bianchi M, Giordano L, Olivotto S, Ragona F, Tagliabue A, Zorzi G, Nardocci N, Veggiotti P. De Giorgis V, et al. Seizure. 2015 Jan;24:28-32. doi: 10.1016/j.seizure.2014.11.009. Epub 2014 Nov 26. Seizure. 2015. PMID: 25564316 Free article.
It is caused by mutations in the SLC2A1 gene inherited as an autosomal dominant trait with complete penetrance, even if most detected SCL2A1 mutations are de novo. ...RESULTS: We found remarkable differences in the severity of the clinical picture regarding the type …
It is caused by mutations in the SLC2A1 gene inherited as an autosomal dominant trait with complete penetrance, even if most d …
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 …
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. ...The clinical presentation in aniridia patients varied from the complete bilateral absence of the iris (75.5%) to partial …
Congenital aniridia is a severe autosomal dominant congenital panocular disorder, mainly associated with pathogenic variants i …
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. ...We have now comprehensively defined the TSC1 mutational spectrum in 171 sequentially ascertained, unrelated TSC patients by single …
Tuberous sclerosis (TSC) is an autosomal dominant disorder characterised by the development of hamartomatous growths in many o …
The rate of purine synthesis de nova in blood mononuclear cells in vitro from patients with familial hyperuricaemic nephropathy.
MacDermot KD, Allsop J, Watts RW. MacDermot KD, et al. Clin Sci (Lond). 1984 Aug;67(2):249-58. doi: 10.1042/cs0670249. Clin Sci (Lond). 1984. PMID: 6744792
These subjects belong to families where hyperuricaemia and renal failure occur together early in life, and the genetic transmission follows an autosomal dominant mode of inheritance. We term this syndrome, familial hyperuricaemic nephropathy. ...
These subjects belong to families where hyperuricaemia and renal failure occur together early in life, and the genetic transmission follows …
12 results