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Quoted phrase not found in phrase index: "Intellectual disability, autosomal dominant 2"
Page 1
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fakhari D,… See abstract for full author list ➔ Saffari A, et al. Brain. 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039. Brain. 2023. PMID: 36757831 Free PMC article.
In the field of rare diseases, progress in molecular diagnostics led to the recognition that variants linked to autosomal-dominant neurodegenerative diseases of later onset can, in the context of biallelic inheritance, cause devastating neurodevelopmental disorders …
In the field of rare diseases, progress in molecular diagnostics led to the recognition that variants linked to autosomal-dominant …
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.
METHODS: We did a dual-centre cross-sectional study of adults with Down syndrome recruited through a population-based health plan in Barcelona (Spain) and through services for people with intellectual disabilities in Cambridge (UK). Cognitive impairment in participants wit …
METHODS: We did a dual-centre cross-sectional study of adults with Down syndrome recruited through a population-based health plan in Barcelo …
Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.
Jones AC, Shyamsundar MM, Thomas MW, Maynard J, Idziaszczyk S, Tomkins S, Sampson JR, Cheadle JP. Jones AC, et al. Am J Hum Genet. 1999 May;64(5):1305-15. doi: 10.1086/302381. Am J Hum Genet. 1999. PMID: 10205261 Free PMC article. Review.
Tuberous sclerosis (TSC [MIM 191090 and MIM 191100]) is an autosomal dominant disorder characterized by hamartomas in many organs. ...Intellectual disability was significantly more frequent in TSC2 sporadic cases than in TSC1 sporadic cases (P=.0145). …
Tuberous sclerosis (TSC [MIM 191090 and MIM 191100]) is an autosomal dominant disorder characterized by hamartomas in many org …
Updated Genotype-Phenotype Correlations in TSC.
Curatolo P, Trivisano M, Specchio N. Curatolo P, et al. Semin Pediatr Neurol. 2023 Oct;47:101086. doi: 10.1016/j.spen.2023.101086. Epub 2023 Sep 18. Semin Pediatr Neurol. 2023. PMID: 37919037 Review.
Central nervous system is almost invariably involved, with up to 85% of patients presenting with epilepsy, and at least half of patients having intellectual disability or other neuropsychiatric disorders including autism spectrum disorder. ...This review confirms th …
Central nervous system is almost invariably involved, with up to 85% of patients presenting with epilepsy, and at least half of patients hav …
Genotype/Phenotype Correlations in Tuberous Sclerosis Complex.
Curatolo P, Moavero R, Roberto D, Graziola F. Curatolo P, et al. Semin Pediatr Neurol. 2015 Dec;22(4):259-73. doi: 10.1016/j.spen.2015.10.002. Epub 2015 Oct 21. Semin Pediatr Neurol. 2015. PMID: 26706013 Review.
Central nervous system is almost invariably involved, with up to 85% of patients presenting with epilepsy, and at least half of patients having intellectual disability or other neuropsychiatric disorders including autism spectrum disorder. ...This review confirms th …
Central nervous system is almost invariably involved, with up to 85% of patients presenting with epilepsy, and at least half of patients hav …
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. ...Pho …
Familial adult myoclonic epilepsy (FAME), also described with different acronyms (ADCME, BAFME, FEME, FCTE and others), is a high-penetrant …
Clinical heterogeneity of polish patients with KAT6B-related disorder.
Klaniewska M, Bolanowska-Tyszko A, Latos-Bielenska A, Jezela-Stanek A, Szczaluba K, Krajewska-Walasek M, Ciara E, Pelc M, Jurkiewicz D, Stawinski P, Zubkiewicz-Kucharska A, Rydzanicz M, Ploski R, Smigiel R. Klaniewska M, et al. Mol Genet Genomic Med. 2023 Dec;11(12):e2265. doi: 10.1002/mgg3.2265. Epub 2023 Sep 1. Mol Genet Genomic Med. 2023. PMID: 37658610 Free PMC article.
BACKGROUND: Say-Barber-Biesecker-Young-Simpson (SBBYSS) variant of Ohdo syndrome is a rare, autosomal dominant and clinically heterogenous disorder, caused by pathogenic variants in the KAT6B gene located on chromosome 10q22.2. ...METHODS: Here we report six SBBYS s …
BACKGROUND: Say-Barber-Biesecker-Young-Simpson (SBBYSS) variant of Ohdo syndrome is a rare, autosomal dominant and clinically …
Genotype-phenotype correlation in Phelan-McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes.
Ricciardello A, Tomaiuolo P, Persico AM. Ricciardello A, et al. Am J Med Genet A. 2021 Jul;185(7):2211-2233. doi: 10.1002/ajmg.a.62222. Epub 2021 May 5. Am J Med Genet A. 2021. PMID: 33949759 Free PMC article. Review.
Phelan-McDermid syndrome (PMS, OMIM #606232), also known as chromosome 22q13 deletion syndrome, is a rare genetic disorder characterized by intellectual disability, hypotonia, delayed or absent speech, motor impairment, autism spectrum disorder, behavioral anomalies …
Phelan-McDermid syndrome (PMS, OMIM #606232), also known as chromosome 22q13 deletion syndrome, is a rare genetic disorder characterized by …
Diagnosis and genotype-phenotype correlation in patients with PKD1/TSC2 contiguous gene deletion syndrome.
Shang S, Mei Y, Wang T, Zheng X, Chen K, Xiong S, Dong Y, Chang Y, Wu X, Kong X, Tan M, Wu L, Zhang Y, Xiao Y, Xie Y, Cai G, Chen X, Li Q. Shang S, et al. Clin Nephrol. 2022 Jun;97(6):328-338. doi: 10.5414/CN110476. Clin Nephrol. 2022. PMID: 35142283
Deletions involving the TSC2 and PKD1 genes lead to tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD), which is known as TSC2-PKD1 contiguous gene deletion syndrome (PKDTS). ...We found that many PKDTS patients have the follow …
Deletions involving the TSC2 and PKD1 genes lead to tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney …
62 results