These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

90 related articles for article (PubMed ID: 30525197)

  • 1. Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability.
    Thuresson AC; Soussi Zander C; Zhao JJ; Halvardson J; Maqbool K; Månsson E; Stenninger E; Holmlund U; Öhrner Y; Feuk L
    Clin Genet; 2019 Mar; 95(3):436-439. PubMed ID: 30525197
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability.
    Kvarnung M; Taylan F; Nilsson D; Anderlid BM; Malmgren H; Lagerstedt-Robinson K; Holmberg E; Burstedt M; Nordenskjöld M; Nordgren A; Lundberg ES
    Clin Genet; 2018 Dec; 94(6):528-537. PubMed ID: 30221345
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability.
    Gandin I; Faletra F; Faletra F; Carella M; Pecile V; Ferrero GB; Biamino E; Palumbo P; Palumbo O; Bosco P; Romano C; Belcaro C; Vozzi D; d'Adamo AP
    Genet Med; 2015 May; 17(5):396-9. PubMed ID: 25232855
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Autosomal recessive congenital cataract, intellectual disability phenotype linked to STX3 in a consanguineous Tunisian family.
    Chograni M; Alkuraya FS; Ourteni I; Maazoul F; Lariani I; Chaabouni HB
    Clin Genet; 2015 Sep; 88(3):283-7. PubMed ID: 25358429
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel PRMT7 mutation in a rare case of dysmorphism and intellectual disability.
    Poquérusse J; Whitford W; Taylor J; Alburaiky S; Snell RG; Lehnert K; Jacobsen JC
    J Hum Genet; 2022 Jan; 67(1):19-26. PubMed ID: 34244600
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Novel mutations in WWOX, RARS2, and C10orf2 genes in consanguineous Arab families with intellectual disability.
    Alkhateeb AM; Aburahma SK; Habbab W; Thompson IR
    Metab Brain Dis; 2016 Aug; 31(4):901-7. PubMed ID: 27121845
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A null mutation in TNIK defines a novel locus for intellectual disability.
    Anazi S; Shamseldin HE; AlNaqeb D; Abouelhoda M; Monies D; Salih MA; Al-Rubeaan K; Alkuraya FS
    Hum Genet; 2016 Jul; 135(7):773-8. PubMed ID: 27106596
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree.
    Makrythanasis P; Guipponi M; Santoni FA; Zaki M; Issa MY; Ansar M; Hamamy H; Antonarakis SE
    Hum Genomics; 2016 Jul; 10(1):26. PubMed ID: 27421267
    [TBL] [Abstract][Full Text] [Related]  

  • 10. From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
    Lindstrand A; Eisfeldt J; Pettersson M; Carvalho CMB; Kvarnung M; Grigelioniene G; Anderlid BM; Bjerin O; Gustavsson P; Hammarsjö A; Georgii-Hemming P; Iwarsson E; Johansson-Soller M; Lagerstedt-Robinson K; Lieden A; Magnusson M; Martin M; Malmgren H; Nordenskjöld M; Norling A; Sahlin E; Stranneheim H; Tham E; Wincent J; Ygberg S; Wedell A; Wirta V; Nordgren A; Lundin J; Nilsson D
    Genome Med; 2019 Nov; 11(1):68. PubMed ID: 31694722
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Whole genome sequencing of 45 Japanese patients with intellectual disability.
    Abe-Hatano C; Iida A; Kosugi S; Momozawa Y; Terao C; Ishikawa K; Okubo M; Hachiya Y; Nishida H; Nakamura K; Miyata R; Murakami C; Takahashi K; Hoshino K; Sakamoto H; Ohta S; Kubota M; Takeshita E; Ishiyama A; Nakagawa E; Sasaki M; Kato M; Matsumoto N; Kamatani Y; Kubo M; Takahashi Y; Natsume J; Inoue K; Goto YI
    Am J Med Genet A; 2021 May; 185(5):1468-1480. PubMed ID: 33624935
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability.
    Ziegler A; Bader P; McWalter K; Douglas G; Houdayer C; Bris C; Rouleau S; Coutant R; Colin E; Bonneau D
    Clin Genet; 2019 Oct; 96(4):354-358. PubMed ID: 31290144
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review.
    Galarreta CI; Wigby KM; Jones MC
    Clin Dysmorphol; 2019 Oct; 28(4):175-183. PubMed ID: 31162149
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Expanding the spectrum of Grik2 mutations: intellectual disability, behavioural disorder, epilepsy and dystonia.
    Córdoba M; Rodriguez S; González Morón D; Medina N; Kauffman MA
    Clin Genet; 2015 Mar; 87(3):293-5. PubMed ID: 25039795
    [No Abstract]   [Full Text] [Related]  

  • 17. WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.
    Jiang C; Gai N; Zou Y; Zheng Y; Ma R; Wei X; Liang D; Wu L
    Clin Chim Acta; 2017 Jan; 464():24-29. PubMed ID: 27983999
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Copy number variations in Saudi family with intellectual disability and epilepsy.
    Naseer MI; Chaudhary AG; Rasool M; Kalamegam G; Ashgan FT; Assidi M; Ahmed F; Ansari SA; Zaidi SK; Jan MM; Al-Qahtani MH
    BMC Genomics; 2016 Oct; 17(Suppl 9):757. PubMed ID: 27766957
    [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. 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]  

    [Next]    [New Search]
    of 5.