205 related articles for article (PubMed ID: 26529358)
1. Identification of a homozygous missense mutation in LRP2 and a hemizygous missense mutation in TSPYL2 in a family with mild intellectual disability.
Vasli N; Ahmed I; Mittal K; Ohadi M; Mikhailov A; Rafiq MA; Bhatti A; Carter MT; Andrade DM; Ayub M; Vincent JB; John P
Psychiatr Genet; 2016 Apr; 26(2):66-73. PubMed ID: 26529358
[TBL] [Abstract][Full Text] [Related]
2. Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome.
Schrauwen I; Sommen M; Claes C; Pinner J; Flaherty M; Collins F; Van Camp G
Clin Genet; 2014 Sep; 86(3):282-6. PubMed ID: 23992033
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.
Rafiullah R; Aslamkhan M; Paramasivam N; Thiel C; Mustafa G; Wiemann S; Schlesner M; Wade RC; Rappold GA; Berkel S
J Med Genet; 2016 Feb; 53(2):138-44. PubMed ID: 26566883
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. A prenatally diagnosed case of Donnai-Barrow syndrome: Highlighting the importance of whole exome sequencing in cases of consanguinity.
Ozdemir H; Plamondon J; Gaskin P; Asoglu MR; Turan S
Am J Med Genet A; 2020 Feb; 182(2):289-292. PubMed ID: 31821692
[TBL] [Abstract][Full Text] [Related]
8. A missense mutation in the
Sheereen A; Alaamery M; Bawazeer S; Al Yafee Y; Massadeh S; Eyaid W
J Med Genet; 2017 Apr; 54(4):236-240. PubMed ID: 28143899
[TBL] [Abstract][Full Text] [Related]
9. Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family.
Al-Amri A; Saegh AA; Al-Mamari W; El-Asrag ME; Ivorra JL; Cardno AG; Inglehearn CF; Clapcote SJ; Ali M
Am J Med Genet A; 2016 Jul; 170(7):1826-31. PubMed ID: 27148795
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.
Howard MF; Murakami Y; Pagnamenta AT; Daumer-Haas C; Fischer B; Hecht J; Keays DA; Knight SJ; Kölsch U; Krüger U; Leiz S; Maeda Y; Mitchell D; Mundlos S; Phillips JA; Robinson PN; Kini U; Taylor JC; Horn D; Kinoshita T; Krawitz PM
Am J Hum Genet; 2014 Feb; 94(2):278-87. PubMed ID: 24439110
[TBL] [Abstract][Full Text] [Related]
13. 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]
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. Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family.
Lindholm Carlström E; Halvardson J; Etemadikhah M; Wetterberg L; Gustavson KH; Feuk L
BMC Med Genomics; 2019 Nov; 12(1):156. PubMed ID: 31694657
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Homozygous missense mutation in STYXL1 associated with moderate intellectual disability, epilepsy and behavioural complexities.
Isrie M; Zamani Esteki M; Peeters H; Voet T; Van Houdt J; Van Paesschen W; Van Esch H
Eur J Med Genet; 2015 Apr; 58(4):205-10. PubMed ID: 25724587
[TBL] [Abstract][Full Text] [Related]
19. Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.
Riazuddin S; Hussain M; Razzaq A; Iqbal Z; Shahzad M; Polla DL; Song Y; van Beusekom E; Khan AA; Tomas-Roca L; Rashid M; Zahoor MY; Wissink-Lindhout WM; Basra MAR; Ansar M; Agha Z; van Heeswijk K; Rasheed F; Van de Vorst M; Veltman JA; Gilissen C; Akram J; Kleefstra T; Assir MZ; ; Grozeva D; Carss K; Raymond FL; O'Connor TD; Riazuddin SA; Khan SN; Ahmed ZM; de Brouwer APM; van Bokhoven H; Riazuddin S
Mol Psychiatry; 2017 Nov; 22(11):1604-1614. PubMed ID: 27457812
[TBL] [Abstract][Full Text] [Related]
20. Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.
Santos-Cortez RLP; Khan V; Khan FS; Mughal ZU; Chakchouk I; Lee K; Rasheed M; Hamza R; Acharya A; Ullah E; Saqib MAN; Abbe I; Ali G; Hassan MJ; Khan S; Azeem Z; Ullah I; Bamshad MJ; Nickerson DA; Schrauwen I; Ahmad W; Ansar M; Leal SM
Hum Genet; 2018 Sep; 137(9):735-752. PubMed ID: 30167849
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]