598 related articles for article (PubMed ID: 33002343)
1. Further delineation of autosomal recessive intellectual disability syndrome caused by homozygous variant of the NSUN2 gene in a chinese pedigree.
Sun S; Chen L; Wang Y; Wang J; Li N; Wang X
Mol Genet Genomic Med; 2020 Dec; 8(12):e1518. PubMed ID: 33002343
[TBL] [Abstract][Full Text] [Related]
2. A novel variant in NSUN2 causes intellectual disability in a Chinese family.
Yang Q; Zhang Q; Qin Z; Yi S; Luo J
BMC Med Genomics; 2024 Apr; 17(1):95. PubMed ID: 38643142
[TBL] [Abstract][Full Text] [Related]
3. A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child.
Komara M; Al-Shamsi AM; Ben-Salem S; Ali BR; Al-Gazali L
J Mol Neurosci; 2015 Nov; 57(3):393-9. PubMed ID: 26055038
[TBL] [Abstract][Full Text] [Related]
4. Mutations in NSUN2 cause autosomal-recessive intellectual disability.
Abbasi-Moheb L; Mertel S; Gonsior M; Nouri-Vahid L; Kahrizi K; Cirak S; Wieczorek D; Motazacker MM; Esmaeeli-Nieh S; Cremer K; Weißmann R; Tzschach A; Garshasbi M; Abedini SS; Najmabadi H; Ropers HH; Sigrist SJ; Kuss AW
Am J Hum Genet; 2012 May; 90(5):847-55. PubMed ID: 22541559
[TBL] [Abstract][Full Text] [Related]
5. Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome.
Martinez FJ; Lee JH; Lee JE; Blanco S; Nickerson E; Gabriel S; Frye M; Al-Gazali L; Gleeson JG
J Med Genet; 2012 Jun; 49(6):380-5. PubMed ID: 22577224
[TBL] [Abstract][Full Text] [Related]
6. Expanding the phenotype of biallelic loss-of-function variants in the NSUN2 gene: Description of four individuals with juvenile cataract, chronic nephritis, or brain anomaly as novel complications.
Kato K; Mizuno S; Morton J; Toyama M; Hara Y; Wasmer E; Lehmann A; Ogi T
Am J Med Genet A; 2021 Jan; 185(1):282-285. PubMed ID: 33084202
[TBL] [Abstract][Full Text] [Related]
7. Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.
Khan MA; Rafiq MA; Noor A; Hussain S; Flores JV; Rupp V; Vincent AK; Malli R; Ali G; Khan FS; Ishak GE; Doherty D; Weksberg R; Ayub M; Windpassinger C; Ibrahim S; Frye M; Ansar M; Vincent JB
Am J Hum Genet; 2012 May; 90(5):856-63. PubMed ID: 22541562
[TBL] [Abstract][Full Text] [Related]
8. Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.
Ansar M; Ullah F; Paracha SA; Adams DJ; Lai A; Pais L; Iwaszkiewicz J; Millan F; Sarwar MT; Agha Z; Shah SF; Qaisar AA; Falconnet E; Zoete V; Ranza E; Makrythanasis P; Santoni FA; Ahmed J; Katsanis N; Walsh C; Davis EE; Antonarakis SE
Am J Hum Genet; 2019 Jun; 104(6):1073-1087. PubMed ID: 31079899
[TBL] [Abstract][Full Text] [Related]
9. A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome.
Koehler K; Schuelke M; Hell AK; Schittkowski M; Huebner A; Brockmann K
Am J Med Genet A; 2020 Mar; 182(3):570-575. PubMed ID: 31825161
[TBL] [Abstract][Full Text] [Related]
10. NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs.
Van Haute L; Lee SY; McCann BJ; Powell CA; Bansal D; Vasiliauskaitė L; Garone C; Shin S; Kim JS; Frye M; Gleeson JG; Miska EA; Rhee HW; Minczuk M
Nucleic Acids Res; 2019 Sep; 47(16):8720-8733. PubMed ID: 31276587
[TBL] [Abstract][Full Text] [Related]
11. Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly.
Abbasi AA; Blaesius K; Hu H; Latif Z; Picker-Minh S; Khan MN; Farooq S; Khan MA; Kaindl AM
Am J Med Genet B Neuropsychiatr Genet; 2017 Dec; 174(8):839-845. PubMed ID: 29031008
[TBL] [Abstract][Full Text] [Related]
12. Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder.
Mattioli F; Worpenberg L; Li CT; Ibrahim N; Naz S; Sharif S; Firouzabadi SG; Vosoogh S; Saraeva-Lamri R; Raymond L; Trujillo C; Guex N; Antonarakis SE; Ansar M; Darvish H; Liu RJ; Roignant JY; Reymond A
Genet Med; 2023 Sep; 25(9):100900. PubMed ID: 37226891
[TBL] [Abstract][Full Text] [Related]
13. Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing.
Yang Q; Qin Z; Zhang Q; Yi S; Yi S; Luo J
BMC Med Genomics; 2022 Mar; 15(1):67. PubMed ID: 35321723
[TBL] [Abstract][Full Text] [Related]
14. CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.
Enomoto Y; Tsurusaki Y; Yokoi T; Abe-Hatano C; Ida K; Naruto T; Mitsui J; Tsuji S; Morishita S; Kurosawa K
Eur J Med Genet; 2020 Jan; 63(1):103610. PubMed ID: 30602132
[TBL] [Abstract][Full Text] [Related]
15. A Novel Variant in
Hussain A; Acharya A; Bharadwaj T; Genomics UOWCFM; Leal SM; Khaliq A; Mir A; Schrauwen I
Biomed Res Int; 2023; 2023():9993801. PubMed ID: 37090188
[TBL] [Abstract][Full Text] [Related]
16. Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism.
Zahra Q; Çakmak Ç; Koprulu M; Shuaib M; Sobreira N; Kalsner L; Sobreira J; Guillen Sacoto MJ; Malik S; Tolun A
J Hum Genet; 2020 Dec; 65(12):1115-1123. PubMed ID: 32737394
[TBL] [Abstract][Full Text] [Related]
17. A Novel VPS13B Mutation Identified by Whole-Exome Sequencing in Iranian Patients with Cohen Syndrome.
Karimzadeh MR; Omidi F; Sahebalzamani A; Saeidi K
J Mol Neurosci; 2021 Dec; 71(12):2566-2574. PubMed ID: 34041686
[TBL] [Abstract][Full Text] [Related]
18. Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Kolanczyk M; Krawitz P; Hecht J; Hupalowska A; Miaczynska M; Marschner K; Schlack C; Emmerich D; Kobus K; Kornak U; Robinson PN; Plecko B; Grangl G; Uhrig S; Mundlos S; Horn D
Eur J Hum Genet; 2015 May; 23(5):633-8. PubMed ID: 24916641
[TBL] [Abstract][Full Text] [Related]
19. Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature.
Ansar M; Ebstein F; Özkoç H; Paracha SA; Iwaszkiewicz J; Gesemann M; Zoete V; Ranza E; Santoni FA; Sarwar MT; Ahmed J; Krüger E; Bachmann-Gagescu R; Antonarakis SE
Hum Mol Genet; 2020 May; 29(7):1132-1143. PubMed ID: 32129449
[TBL] [Abstract][Full Text] [Related]
20. Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
Rafiq MA; Leblond CS; Saqib MA; Vincent AK; Ambalavanan A; Khan FS; Ayaz M; Shaheen N; Spiegelman D; Ali G; Amin-ud-Din M; Laurent S; Mahmood H; Christian M; Ali N; Fennell A; Nanjiani Z; Egger G; Caron C; Waqas A; Ayub M; Rasheed S; Forgeot d'Arc B; Johnson A; So J; Brohi MQ; Mottron L; Ansar M; Vincent JB; Xiong L
BMC Med Genet; 2015 Jun; 16():41. PubMed ID: 26104215
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
