203 related articles for article (PubMed ID: 21629298)
1. Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity.
Abou Jamra R; Wohlfart S; Zweier M; Uebe S; Priebe L; Ekici A; Giesebrecht S; Abboud A; Al Khateeb MA; Fakher M; Hamdan S; Ismael A; Muhammad S; Nöthen MM; Schumacher J; Reis A
Eur J Hum Genet; 2011 Nov; 19(11):1161-6. PubMed ID: 21629298
[TBL] [Abstract][Full Text] [Related]
2. Homozygosity mapping of autosomal recessive intellectual disability loci in 11 consanguineous Pakistani families.
Ahmed I; Rafiq MA; Vincent JB; Bhatti A; Ayub M; John P
Acta Neuropsychiatr; 2015 Feb; 27(1):38-47. PubMed ID: 25434728
[TBL] [Abstract][Full Text] [Related]
3. A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.
Kakar N; Goebel I; Daud S; Nürnberg G; Agha N; Ahmad A; Nürnberg P; Kubisch C; Ahmad J; Borck G
Eur J Med Genet; 2012 Dec; 55(12):727-31. PubMed ID: 22989526
[TBL] [Abstract][Full Text] [Related]
4. Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.
Najmabadi H; Motazacker MM; Garshasbi M; Kahrizi K; Tzschach A; Chen W; Behjati F; Hadavi V; Nieh SE; Abedini SS; Vazifehmand R; Firouzabadi SG; Jamali P; Falah M; Seifati SM; Grüters A; Lenzner S; Jensen LR; Rüschendorf F; Kuss AW; Ropers HH
Hum Genet; 2007 Mar; 121(1):43-8. PubMed ID: 17120046
[TBL] [Abstract][Full Text] [Related]
5. Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.
Harripaul R; Vasli N; Mikhailov A; Rafiq MA; Mittal K; Windpassinger C; Sheikh TI; Noor A; Mahmood H; Downey S; Johnson M; Vleuten K; Bell L; Ilyas M; Khan FS; Khan V; Moradi M; Ayaz M; Naeem F; Heidari A; Ahmed I; Ghadami S; Agha Z; Zeinali S; Qamar R; Mozhdehipanah H; John P; Mir A; Ansar M; French L; Ayub M; Vincent JB
Mol Psychiatry; 2018 Apr; 23(4):973-984. PubMed ID: 28397838
[TBL] [Abstract][Full Text] [Related]
6. A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability.
Khan MA; Rafiq MA; Noor A; Ali N; Ali G; Vincent JB; Ansar M
BMC Med Genet; 2011 Apr; 12():56. PubMed ID: 21513506
[TBL] [Abstract][Full Text] [Related]
7. Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.
Rafiq MA; Kuss AW; Puettmann L; Noor A; Ramiah A; Ali G; Hu H; Kerio NA; Xiang Y; Garshasbi M; Khan MA; Ishak GE; Weksberg R; Ullmann R; Tzschach A; Kahrizi K; Mahmood K; Naeem F; Ayub M; Moremen KW; Vincent JB; Ropers HH; Ansar M; Najmabadi H
Am J Hum Genet; 2011 Jul; 89(1):176-82. PubMed ID: 21763484
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel.
Rehman Su; Baig SM; Eiberg H; Rehman Su; Ahmad I; Malik NA; Tommerup N; Hansen L
Neurogenetics; 2011 Aug; 12(3):247-51. PubMed ID: 21643797
[TBL] [Abstract][Full Text] [Related]
10. Identification of two novel homozygous nonsense mutations in TRAPPC9 in two unrelated consanguineous families with intellectual Disability from Iran.
Yousefipour F; Mozhdehipanah H; Mahjoubi F
Mol Genet Genomic Med; 2021 Dec; 9(12):e1610. PubMed ID: 33513295
[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. A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly.
Mochida GH; Mahajnah M; Hill AD; Basel-Vanagaite L; Gleason D; Hill RS; Bodell A; Crosier M; Straussberg R; Walsh CA
Am J Hum Genet; 2009 Dec; 85(6):897-902. PubMed ID: 20004763
[TBL] [Abstract][Full Text] [Related]
13. Next Generation Sequencing and Genome-Wide Genotyping Identify the Genetic Causes of Intellectual Disability in Ten Consanguineous Families from Jordan.
Froukh TJ
Tohoku J Exp Med; 2017 Dec; 243(4):297-309. PubMed ID: 29269699
[TBL] [Abstract][Full Text] [Related]
14. The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families.
Davarniya B; Hu H; Kahrizi K; Musante L; Fattahi Z; Hosseini M; Maqsoud F; Farajollahi R; Wienker TF; Ropers HH; Najmabadi H
PLoS One; 2015; 10(8):e0129631. PubMed ID: 26308914
[TBL] [Abstract][Full Text] [Related]
15. TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype.
Marangi G; Leuzzi V; Manti F; Lattante S; Orteschi D; Pecile V; Neri G; Zollino M
Eur J Hum Genet; 2013 Feb; 21(2):229-32. PubMed ID: 22549410
[TBL] [Abstract][Full Text] [Related]
16. Fine mapping of MRT9 locus through genome wide homozygosity mapping in a consanguineous Pakistani family.
Rehman SU; Baig SM; Hasen L; Ahmad I; Khan RA; Hussa M
J Pak Med Assoc; 2019 Dec; 69(12):1903-1906. PubMed ID: 31853126
[TBL] [Abstract][Full Text] [Related]
17. Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation.
Mir A; Kaufman L; Noor A; Motazacker MM; Jamil T; Azam M; Kahrizi K; Rafiq MA; Weksberg R; Nasr T; Naeem F; Tzschach A; Kuss AW; Ishak GE; Doherty D; Ropers HH; Barkovich AJ; Najmabadi H; Ayub M; Vincent JB
Am J Hum Genet; 2009 Dec; 85(6):909-15. PubMed ID: 20004765
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. A genome-wide analysis in consanguineous families reveals new chromosomal loci in specific language impairment (SLI).
Andres EM; Hafeez H; Yousaf A; Riazuddin S; Rice ML; Basra MAR; Raza MH
Eur J Hum Genet; 2019 Aug; 27(8):1274-1285. PubMed ID: 30976110
[TBL] [Abstract][Full Text] [Related]
20. Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.
Bögershausen N; Shahrzad N; Chong JX; von Kleist-Retzow JC; Stanga D; Li Y; Bernier FP; Loucks CM; Wirth R; Puffenberger EG; Hegele RA; Schreml J; Lapointe G; Keupp K; Brett CL; Anderson R; Hahn A; Innes AM; Suchowersky O; Mets MB; Nürnberg G; McLeod DR; Thiele H; Waggoner D; Altmüller J; Boycott KM; Schoser B; Nürnberg P; Ober C; Heller R; Parboosingh JS; Wollnik B; Sacher M; Lamont RE
Am J Hum Genet; 2013 Jul; 93(1):181-90. PubMed ID: 23830518
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]