382 related articles for article (PubMed ID: 22541562)
21. 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]
22. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.
Noor A; Windpassinger C; Patel M; Stachowiak B; Mikhailov A; Azam M; Irfan M; Siddiqui ZK; Naeem F; Paterson AD; Lutfullah M; Vincent JB; Ayub M
Am J Hum Genet; 2008 Apr; 82(4):1011-8. PubMed ID: 18387594
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. 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]
25. A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.
Azam M; Khan MI; Gal A; Hussain A; Shah ST; Khan MS; Sadeque A; Bokhari H; Collin RW; Orth U; van Genderen MM; den Hollander AI; Cremers FP; Qamar R
Mol Vis; 2009 Dec; 15():2526-34. PubMed ID: 19960070
[TBL] [Abstract][Full Text] [Related]
26. Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.
Mittal K; Rafiq MA; Rafiullah R; Harripaul R; Ali H; Ayaz M; Aslam M; Naeem F; Amin-Ud-Din M; Waqas A; So J; Rappold GA; Vincent JB; Ayub M
J Hum Genet; 2016 Oct; 61(10):867-872. PubMed ID: 27305979
[TBL] [Abstract][Full Text] [Related]
27. Two Cases of Recessive Intellectual Disability Caused by
Khan A; Miao Z; Umair M; Ullah A; Alshabeeb MA; Bilal M; Ahmad F; Rappold GA; Ansar M; Carapito R
Genes (Basel); 2020 Aug; 11(9):. PubMed ID: 32878022
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.
Alazami AM; Hijazi H; Al-Dosari MS; Shaheen R; Hashem A; Aldahmesh MA; Mohamed JY; Kentab A; Salih MA; Awaji A; Masoodi TA; Alkuraya FS
J Med Genet; 2013 Jul; 50(7):425-30. PubMed ID: 23620220
[TBL] [Abstract][Full Text] [Related]
30. A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability.
Figueiredo T; Melo US; Pessoa AL; Nobrega PR; Kitajima JP; Rusch H; Vaz F; Lucato LT; Zatz M; Kok F; Santos S
Mol Psychiatry; 2016 Aug; 21(8):1125-9. PubMed ID: 26416544
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. Autozygosity mapping in consanguineous Pakistani families identifies nine non-overlapping novel linkage intervals for autosomal recessive non-syndromic mental retardation (AR-NSMR); shows genetic heterogeneity for AR-NSMR.
Rehman SU; Khan RM; Khan RA; Hassan I; Muhammad N; Arif M
J Pak Med Assoc; 2021 Sep; 71(9):2250-2254. PubMed ID: 34580524
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. 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]
35. Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome.
Kaasinen E; Rahikkala E; Koivunen P; Miettinen S; Wamelink MM; Aavikko M; Palin K; Myllyharju J; Moilanen JS; Pajunen L; Karhu A; Aaltonen LA
Eur J Med Genet; 2014 Oct; 57(10):543-51. PubMed ID: 25078763
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder.
Ahmed I; Mittal K; Sheikh TI; Vasli N; Rafiq MA; Mikhailov A; Ohadi M; Mahmood H; Rouleau GA; Bhatti A; Ayub M; Srour M; John P; Vincent JB
Hum Genet; 2014 Nov; 133(11):1419-29. PubMed ID: 25098561
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. 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]
40. Exome sequencing revealed a novel homozygous METTL23 gene mutation leading to familial mild intellectual disability with dysmorphic features.
Smaili W; Elalaoui SC; Zrhidri A; Raymond L; Egéa G; Taoudi M; Mouatassim SEL; Sefiani A; Lyahyai J
Eur J Med Genet; 2020 Jul; 63(7):103951. PubMed ID: 32439618
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]