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1999 3
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Quoted phrase not found in phrase index: "Intellectual disability, autosomal dominant 1"
Page 1
Parkinson's disease - genetic cause.
Cherian A, K P D, Vijayaraghavan A. Cherian A, et al. Curr Opin Neurol. 2023 Aug 1;36(4):292-301. doi: 10.1097/WCO.0000000000001167. Epub 2023 May 24. Curr Opin Neurol. 2023. PMID: 37366140 Review.
About 5-10% of all patients suffer from a monogenic form of Parkinson's disease. RECENT FINDINGS: Mutations in autosomal dominant genes (e.g. SNCA, LRRK2, VPS35) or autosomal recessive genes (e.g. ...X-linked parkinsonism manifests at a young age accompanied …
About 5-10% of all patients suffer from a monogenic form of Parkinson's disease. RECENT FINDINGS: Mutations in autosomal dominant …
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.
Analysis of disease-associated manifestations delineated a phenotypic spectrum ranging from normal cognition and mild gait disturbance to congenital arthrogryposis, global developmental delay, intellectual disability, absent speech and inability to walk. In a subset …
Analysis of disease-associated manifestations delineated a phenotypic spectrum ranging from normal cognition and mild gait disturbance to co …
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: …
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 ( …
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 …
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Pavinato L, Delle Vedove A, Carli D, Ferrero M, Carestiato S, Howe JL, Agolini E, Coviello DA, van de Laar I, Au PYB, Di Gregorio E, Fabbiani A, Croci S, Mencarelli MA, Bruno LP, Renieri A, Veltra D, Sofocleous C, Faivre L, Mazel B, Safraou H, Denommé-Pichon AS, van Slegtenhorst MA, Giesbertz N, van Jaarsveld RH, Childers A, Rogers RC, Novelli A, De Rubeis S, Buxbaum JD, Scherer SW, Ferrero GB, Wirth B, Brusco A. Pavinato L, et al. Brain. 2023 Feb 13;146(2):534-548. doi: 10.1093/brain/awac278. Brain. 2023. PMID: 35979925 Free PMC article.
We describe an autosomal dominant disorder associated with loss-of-function variants in the Cell cycle associated protein 1 (CAPRIN1; MIM*601178). ...We identified 12 cases with loss-of-function CAPRIN1 variants, and a neurodevelopmental phenotype characteriz …
We describe an autosomal dominant disorder associated with loss-of-function variants in the Cell cycle associated protein 1 …
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.
Mah-Som AY, Daw J, Huynh D, Wu M, Creekmore BC, Burns W, Skinner SA, Holla ØL, Smeland MF, Planes M, Uguen K, Redon S, Bierhals T, Scholz T, Denecke J, Mensah MA, Sczakiel HL, Tichy H, Verheyen S, Blatterer J, Schreiner E, Thies J, Lam C, Spaeth CG, Pena L, Ramsey K, Narayanan V, Seaver LH, Rodriguez D, Afenjar A, Burglen L, Lee EB, Chou TF, Weihl CC, Shinawi MS. Mah-Som AY, et al. Am J Hum Genet. 2023 Nov 2;110(11):1959-1975. doi: 10.1016/j.ajhg.2023.10.007. Epub 2023 Oct 25. Am J Hum Genet. 2023. PMID: 37883978 Free PMC article.
Through GeneMatcher, we identified 13 unrelated individuals who harbor heterozygous VCP variants (12 de novo and 1 inherited) associated with a childhood-onset disorder characterized by developmental delay, intellectual disability, hypotonia, and macrocephaly …
Through GeneMatcher, we identified 13 unrelated individuals who harbor heterozygous VCP variants (12 de novo and 1 inherited) associa …
Genetics of retinoblastoma.
Vogel F. Vogel F. Hum Genet. 1979 Nov 1;52(1):1-54. doi: 10.1007/BF00284597. Hum Genet. 1979. PMID: 393614 Review.
The genetic basis of retinoblastoma is reviewed and the following conclusions are drawn: 1) The mode of inheritance of the hereditary variety of retinoblastoma (R) is autosomal dominant with about 90% penetrance. 2) About 68% of inherited cases are bilateral, …
The genetic basis of retinoblastoma is reviewed and the following conclusions are drawn: 1) The mode of inheritance of the hereditary …
(Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B.
Urakawa T, Sano S, Kawashima S, Nakamura A, Shima H, Ohta M, Yamada Y, Nishida A, Narusawa H, Ohtsu Y, Matsubara K, Dateki S, Maruo Y, Fukami M, Ogata T, Kagami M. Urakawa T, et al. Eur J Endocrinol. 2023 Dec 6;189(6):590-600. doi: 10.1093/ejendo/lvad163. Eur J Endocrinol. 2023. PMID: 38039118
METHODS: Eighty-four patients with PHP1B were included in this study. We classified them into 5 groups, namely, autosomal dominant inheritance-PHP1B (Group 1, G1), sporadic-PHP1B (G2), and atypical-PHP1B (G3-G5), based on the methylation defect patterns in 4 …
METHODS: Eighty-four patients with PHP1B were included in this study. We classified them into 5 groups, namely, autosomal dominant …
Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.
Nagarajan B, Gowda VK, Yoganathan S, Sharawat IK, Srivastava K, Vora N, Badheka R, Danda S, Kalane U, Kaur A, Madaan P, Mehta S, Negi S, Panda PK, Rajadhyaksha S, Saini AG, Saini L, Shah S, Srinivasan VM, Suthar R, Thomas M, Vyas S, Sankhyan N, Sahu JK. Nagarajan B, et al. Epilepsia Open. 2023 Dec;8(4):1383-1404. doi: 10.1002/epi4.12811. Epub 2023 Aug 25. Epilepsia Open. 2023. PMID: 37583270 Free PMC article.
Nearly 85% of children with monogenic nuclear disorders had autosomal inheritance (dominant-55.2%, recessive-14.2%), while the rest had X-linked inheritance. ...Seizures other than epileptic spasms were observed in 83 children (66.9%). Pre-existing epilepsy s …
Nearly 85% of children with monogenic nuclear disorders had autosomal inheritance (dominant-55.2%, recessive-14.2%), while the …
130 results