BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

275 related articles for article (PubMed ID: 31978615)

  • 1. Whole exome sequencing identified a novel nonsense INPP4A mutation in a family with intellectual disability.
    Banihashemi S; Tahmasebi-Birgani M; Mohammadiasl J; Hajjari M
    Eur J Med Genet; 2020 Apr; 63(4):103846. PubMed ID: 31978615
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability.
    Hamdan N; Mehawej C; Sebaaly G; Jalkh N; Corbani S; Abou-Ghoch J; De Backer O; Chouery E
    Clin Genet; 2020 Sep; 98(3):288-292. PubMed ID: 32578875
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability.
    Asif M; Anayat M; Tariq F; Noureen T; Din GNU; Becker C; Becker K; Thiele H; Makhdoom EUH; Shaiq PA; Baig SM; Nürnberg P; Hussain MS; Raja GK; Abdullah U
    Genes (Basel); 2022 Dec; 14(1):. PubMed ID: 36672789
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability.
    McSherry M; Masih KE; Elcioglu NH; Celik P; Balci O; Cengiz FB; Nunez D; Sineni CJ; Seyhan S; Kocaoglu D; Guo S; Duman D; Bademci G; Tekin M
    PLoS One; 2018; 13(11):e0208324. PubMed ID: 30500859
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Contribution of Iran in Elucidating the Genetic Causes of Autosomal Recessive Intellectual Disability.
    Ataei R; Khoshbakht S; Beheshtian M; Abedini SS; Behravan H; Esmaeili Dizghandi S; Godratpour F; Mirzaei S; Bahrami F; Akbari M; Keshavarzi F; Kahrizi K; Najmabadi H
    Arch Iran Med; 2019 Aug; 22(8):461-471. PubMed ID: 31679349
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The
    Cheraghi S; Moghbelinejad S; Najmabadi H; Kahrizi K; Najafipour R
    Arch Iran Med; 2021 Oct; 24(10):747-751. PubMed ID: 34816696
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 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. Prenatal diagnosis by whole exome sequencing in a family with a novel TBR1 mutation causing intellectual disability.
    Jin C; Qian H; Xu T; Chen J; Li X; Gu Z
    Taiwan J Obstet Gynecol; 2021 Nov; 60(6):1094-1097. PubMed ID: 34794744
    [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. 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]  

  • 15. 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]  

  • 16. Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis.
    Gu Y; Xiang B; Zhu L; Ma X; Chen X; Cai T
    BMC Med Genet; 2020 May; 21(1):99. PubMed ID: 32393352
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature.
    Mir A; Song Y; Lee H; Khanahmad H; Khorram E; Nasiri J; Tabatabaiefar MA
    BMC Med Genomics; 2023 Oct; 16(1):239. PubMed ID: 37821930
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A Novel Nonsense
    Gorukmez O; Gorukmez O; Ekici A
    Fetal Pediatr Pathol; 2021 Dec; 40(6):702-706. PubMed ID: 32162566
    [No 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. Bi-allelic
    Rasheed A; Gumus E; Zaki M; Johnson K; Manzoor H; LaForce G; Ross D; McEvoy-Venneri J; Stanley V; Lee S; Virani A; Ben-Omran T; Gleeson JG; Naz S; Schaffer A
    J Med Genet; 2021 Apr; 58(4):237-246. PubMed ID: 32439809
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.