196 related articles for article (PubMed ID: 37305761)
1. Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms.
Muhammad N; Hussain SI; Rehman ZU; Khan SA; Jan S; Khan N; Muzammal M; Abbasi SW; Kakar N; Rehman ZU; Khan MA; Mirza MU; Muhammad N; Khan S; Wasif N
Front Neurol; 2023; 14():1168307. PubMed ID: 37305761
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. Description of novel variants in consanguineous Pakistani families affected with intellectual disability.
Rasool IG; Zahoor MY; Ahmed I; Iqbal M; Shafqat S; Anjum AA; Shehzad W
Genes Genomics; 2023 Apr; 45(4):457-465. PubMed ID: 35150401
[TBL] [Abstract][Full Text] [Related]
7. Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.
Khan SY; Ali S; Naeem MA; Khan SN; Husnain T; Butt NH; Qazi ZA; Akram J; Riazuddin S; Ayyagari R; Hejtmancik JF; Riazuddin SA
Mol Vis; 2015; 21():871-82. PubMed ID: 26321862
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families.
Ilyas M; Efthymiou S; Salpietro V; Noureen N; Zafar F; Rauf S; Mir A; Houlden H
BMC Med Genet; 2020 Mar; 21(1):59. PubMed ID: 32209057
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome.
Nawaz H; Mujahid ; Khan SA; Bibi F; Waqas A; Bari A; Fardous ; Khan N; Muhammad N; Khan A; Paracha SA; Alam Q; Kamal MA; Rafeeq MM; Muhammad N; Haq FU; Khan S; Mahmood A; Khan S; Umair M
Genes (Basel); 2023 May; 14(5):. PubMed ID: 37239474
[TBL] [Abstract][Full Text] [Related]
12. Whole exome sequencing revealed novel variants in consanguineous Pakistani families with intellectual disability.
Rasool IG; Zahoor MY; Iqbal M; Anjum AA; Ashraf F; Abbas HQ; Baig HMA; Mahmood T; Shehzad W
Genes Genomics; 2021 May; 43(5):503-512. PubMed ID: 33710595
[TBL] [Abstract][Full Text] [Related]
13. Homozygous variants of EDAR underlying hypohidrotic ectodermal dysplasia in three consanguineous families.
Khan SA; Rukan A; Ullah A; Bibi N; Humayun M; Ullah W; Raza R; Muhammad N; Ahmad W; Khan S; E-Kalsoom U
Eur J Dermatol; 2020 Aug; 30(4):408-416. PubMed ID: 32819890
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. A Novel Homozygous
Li L; Bu X; Ji Y; Tan P; Liu S
Front Pediatr; 2021; 9():651621. PubMed ID: 33959574
[No Abstract] [Full Text] [Related]
16. A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family.
Binaafar S; Razmara E; Mahdieh N; Sahebjame H; Tavasoli AR; Garshasbi M
Eur J Med Genet; 2020 May; 63(5):103853. PubMed ID: 31978613
[TBL] [Abstract][Full Text] [Related]
17. Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy.
Shoubridge C; Jackson M; Grinton B; Berkovic SF; Scheffer IE; Huskins S; Thomas A; Ware T
Am J Med Genet A; 2019 Aug; 179(8):1483-1490. PubMed ID: 31145546
[TBL] [Abstract][Full Text] [Related]
18. Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disability.
Hussain SI; Muhammad N; Shah SUD; Fardous F; Khan SA; Khan N; Rehman AU; Siddique M; Wasan SA; Niaz R; Ullah H; Khan N; Muhammad N; Mirza MU; Wasif N; Khan S
BMC Neurol; 2023 Oct; 23(1):353. PubMed ID: 37794328
[TBL] [Abstract][Full Text] [Related]
19. Identification of C12orf4 as a gene for autosomal recessive intellectual disability.
Philips AK; Pinelli M; de Bie CI; Mustonen A; Määttä T; Arts HH; Wu K; Roepman R; Moilanen JS; Raza S; Varilo T; Scala G; Cocozza S; Gilissen C; van Gassen KL; Järvelä I
Clin Genet; 2017 Jan; 91(1):100-105. PubMed ID: 27311568
[TBL] [Abstract][Full Text] [Related]
20. Novel mutations in
Dawood M; Lin S; Din TU; Shah IU; Khan N; Jan A; Marwan M; Sultan K; Nowshid M; Tahir R; Ahmed AN; Yasin M; Baple EL; Crosby AH; Saleha S
Int J Ophthalmol; 2021; 14(12):1843-1851. PubMed ID: 34926197
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]