358 related articles for article (PubMed ID: 29269699)
1. 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]
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. 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]
4. 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]
5. Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family.
Figueiredo T; Melo US; Pessoa AL; Nobrega PR; Kitajima JP; Correa I; Zatz M; Kok F; Santos S
J Med Genet; 2015 Feb; 52(2):123-7. PubMed ID: 25527630
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Genetics of intellectual disability in consanguineous families.
Hu H; Kahrizi K; Musante L; Fattahi Z; Herwig R; Hosseini M; Oppitz C; Abedini SS; Suckow V; Larti F; Beheshtian M; Lipkowitz B; Akhtarkhavari T; Mehvari S; Otto S; Mohseni M; Arzhangi S; Jamali P; Mojahedi F; Taghdiri M; Papari E; Soltani Banavandi MJ; Akbari S; Tonekaboni SH; Dehghani H; Ebrahimpour MR; Bader I; Davarnia B; Cohen M; Khodaei H; Albrecht B; Azimi S; Zirn B; Bastami M; Wieczorek D; Bahrami G; Keleman K; Vahid LN; Tzschach A; Gärtner J; Gillessen-Kaesbach G; Varaghchi JR; Timmermann B; Pourfatemi F; Jankhah A; Chen W; Nikuei P; Kalscheuer VM; Oladnabi M; Wienker TF; Ropers HH; Najmabadi H
Mol Psychiatry; 2019 Jul; 24(7):1027-1039. PubMed ID: 29302074
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. 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]
12. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
Charng WL; Karaca E; Coban Akdemir Z; Gambin T; Atik MM; Gu S; Posey JE; Jhangiani SN; Muzny DM; Doddapaneni H; Hu J; Boerwinkle E; Gibbs RA; Rosenfeld JA; Cui H; Xia F; Manickam K; Yang Y; Faqeih EA; Al Asmari A; Saleh MA; El-Hattab AW; Lupski JR
BMC Med Genomics; 2016 Jul; 9(1):42. PubMed ID: 27435318
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Targeted next generation sequencing reveals a novel intragenic deletion of the TPO gene in a family with intellectual disability.
Iqbal Z; Neveling K; Razzaq A; Shahzad M; Zahoor MY; Qasim M; Gilissen C; Wieskamp N; Kwint MP; Gijsen S; de Brouwer AP; Veltman JA; Riazuddin S; van Bokhoven H
Arch Med Res; 2012 May; 43(4):312-6. PubMed ID: 22387573
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe.
Wormser O; Gradstein L; Kadar E; Yogev Y; Perez Y; Mashkit E; Elbedour K; Drabkin M; Markus B; Kadir R; Halperin D; Khalaila S; Levy J; Lifshitz T; Manor E; Birk OS
Am J Med Genet A; 2018 Dec; 176(12):2695-2703. PubMed ID: 30513137
[TBL] [Abstract][Full Text] [Related]
19. Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
Reuter MS; Tawamie H; Buchert R; Hosny Gebril O; Froukh T; Thiel C; Uebe S; Ekici AB; Krumbiegel M; Zweier C; Hoyer J; Eberlein K; Bauer J; Scheller U; Strom TM; Hoffjan S; Abdelraouf ER; Meguid NA; Abboud A; Al Khateeb MA; Fakher M; Hamdan S; Ismael A; Muhammad S; Abdallah E; Sticht H; Wieczorek D; Reis A; Abou Jamra R
JAMA Psychiatry; 2017 Mar; 74(3):293-299. PubMed ID: 28097321
[TBL] [Abstract][Full Text] [Related]
20. Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families.
Moudi M; Vahidi Mehrjardi MY; Hozhabri H; Metanat Z; Kalantar SM; Taheri M; Ghasemi N; Dehghani M
J Clin Lab Anal; 2022 Feb; 36(2):e24241. PubMed ID: 35019165
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
