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Quoted phrase not found in phrase index: "Intellectual disability, autosomal dominant 1"
Page 1
Alzheimer's disease associated with Down syndrome: a genetic form of dementia.
Fortea J, Zaman SH, Hartley S, Rafii MS, Head E, Carmona-Iragui M. Fortea J, et al. Lancet Neurol. 2021 Nov;20(11):930-942. doi: 10.1016/S1474-4422(21)00245-3. Lancet Neurol. 2021. PMID: 34687637 Free PMC article. Review.
Diagnosis of dementia remains a clinical challenge because of the lack of validated diagnostic criteria in this population, and because symptoms are overshadowed by the intellectual disability associated with Down syndrome. In people with Down syndrome, fluid and im …
Diagnosis of dementia remains a clinical challenge because of the lack of validated diagnostic criteria in this population, and because symp …
Tuberous sclerosis: a review of the past, present, and future.
Uysal SP, Şahin M. Uysal SP, et al. Turk J Med Sci. 2020 Nov 3;50(SI-2):1665-1676. doi: 10.3906/sag-2002-133. Turk J Med Sci. 2020. PMID: 32222129 Free PMC article. Review.
Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem disorder that is characterized by cellular and tissue dysplasia in several organs. ...TSC associated neuropsychiatric disorders (TAND), including intellectual disability, mood disor …
Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem disorder that is characterized by cellular and tissue d …
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 …
OBJECTIVE: To assess the performance of a non-invasive prenatal screening test (NIPT) for a panel of dominant single-gene disorders ( …
Clinical and biomarker changes of Alzheimer's disease in adults with Down syndrome: a cross-sectional study.
Fortea J, Vilaplana E, Carmona-Iragui M, Benejam B, Videla L, Barroeta I, Fernández S, Altuna M, Pegueroles J, Montal V, Valldeneu S, Giménez S, González-Ortiz S, Muñoz L, Estellés T, Illán-Gala I, Belbin O, Camacho V, Wilson LR, Annus T, Osorio RS, Videla S, Lehmann S, Holland AJ, Alcolea D, Clarimón J, Zaman SH, Blesa R, Lleó A. Fortea J, et al. Lancet. 2020 Jun 27;395(10242):1988-1997. doi: 10.1016/S0140-6736(20)30689-9. Lancet. 2020. PMID: 32593336 Free PMC article.
Only participants with mild or moderate disability were included who had at least one of the following Alzheimer's disease measures: apolipoprotein E allele carrier status; plasma concentrations of amyloid beta peptides 1-42 and 1-40 and their ratio (Abeta( …
Only participants with mild or moderate disability were included who had at least one of the following Alzheimer's disease measures: …
Tuberous sclerosis complex.
Islam MP, Roach ES. Islam MP, et al. Handb Clin Neurol. 2015;132:97-109. doi: 10.1016/B978-0-444-62702-5.00006-8. Handb Clin Neurol. 2015. PMID: 26564073 Review.
Most individuals have seizures, commonly including infantile spasms, and there is variable intellectual disability and autism. Neonates can present with cardiac failure due to intracardiac rhabdomyomas. ...Pulmonary involvement occurs predominantly in women and carr …
Most individuals have seizures, commonly including infantile spasms, and there is variable intellectual disability and autism. …
X-Linked intellectual disability update 2022.
Schwartz CE, Louie RJ, Toutain A, Skinner C, Friez MJ, Stevenson RE. Schwartz CE, et al. Am J Med Genet A. 2023 Jan;191(1):144-159. doi: 10.1002/ajmg.a.63008. Epub 2022 Oct 27. Am J Med Genet A. 2023. PMID: 36300573
Genes that are involved in the transcription process, mitochondrial function, glycoprotein metabolism, and ubiquitination dominate the list of 21 new genes associated with X-linked intellectual disability since the last update in 2017. ...Although the pace of …
Genes that are involved in the transcription process, mitochondrial function, glycoprotein metabolism, and ubiquitination dominate th …
Genetics of recessive cognitive disorders.
Musante L, Ropers HH. Musante L, et al. Trends Genet. 2014 Jan;30(1):32-9. doi: 10.1016/j.tig.2013.09.008. Epub 2013 Oct 28. Trends Genet. 2014. PMID: 24176302 Review.
Most severe forms of intellectual disability (ID) have specific genetic causes. Numerous X chromosome gene defects and disease-causing copy-number variants have been linked to ID and related disorders, and recent studies have revealed that sporadic cases are often d …
Most severe forms of intellectual disability (ID) have specific genetic causes. Numerous X chromosome gene defects and disease …
Rubinstein-Taybi syndrome in diverse populations.
Tekendo-Ngongang C, Owosela B, Fleischer N, Addissie YA, Malonga B, Badoe E, Gupta N, Moresco A, Huckstadt V, Ashaat EA, Hussen DF, Luk HM, Lo IFM, Hon-Yin Chung B, Fung JLF, Moretti-Ferreira D, Batista LC, Lotz-Esquivel S, Saborio-Rocafort M, Badilla-Porras R, Penon Portmann M, Jones KL, Abdul-Rahman OA, Uwineza A, Prijoles EJ, Ifeorah IK, Llamos Paneque A, Sirisena ND, Dowsett L, Lee S, Cappuccio G, Kitchin CS, Diaz-Kuan A, Thong MK, Obregon MG, Mutesa L, Dissanayake VHW, El Ruby MO, Brunetti-Pierri N, Ekure EN, Stevenson RE, Muenke M, Kruszka P. Tekendo-Ngongang C, et al. Am J Med Genet A. 2020 Dec;182(12):2939-2950. doi: 10.1002/ajmg.a.61888. Epub 2020 Sep 27. Am J Med Genet A. 2020. PMID: 32985117
Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function variants in CREBBP or EP300. Affected individuals present with distinctive craniofacial features, broad thumbs and/or halluces, and intellectual disability. …
Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function variants in CREBBP or EP300. Af …
Familial adult myoclonic epilepsy: A new expansion repeats disorder.
Lagorio I, Zara F, Striano S, Striano P. Lagorio I, et al. Seizure. 2019 Apr;67:73-77. doi: 10.1016/j.seizure.2019.03.009. Epub 2019 Mar 19. Seizure. 2019. PMID: 30928698 Free article. Review.
Familial adult myoclonic epilepsy (FAME), also described with different acronyms (ADCME, BAFME, FEME, FCTE and others), is a high-penetrant autosomal dominant condition featuring cortical hand tremors, myoclonic jerks, and occasional/rare convulsive seizures. ...FAM …
Familial adult myoclonic epilepsy (FAME), also described with different acronyms (ADCME, BAFME, FEME, FCTE and others), is a high-penetrant …
GATAD2B-related intellectual disability due to parental mosaicism and review of literature.
Kaur P, Mishra S, Rajesh SM, Girisha KM, Shukla A. Kaur P, et al. Clin Dysmorphol. 2019 Oct;28(4):190-194. doi: 10.1097/MCD.0000000000000288. Clin Dysmorphol. 2019. PMID: 31205050 Review.
Pathogenic variants in GATAD2B are known to cause mental retardation, autosomal dominant 18, characterized by intellectual disability, limited speech development, generalized hypotonia and dysmorphism. ...In this article, we highlight a consistent clin …
Pathogenic variants in GATAD2B are known to cause mental retardation, autosomal dominant 18, characterized by intellectual …
199 results