BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

173 related articles for article (PubMed ID: 32162566)

  • 21. A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene.
    Akawi N; Ben-Salem S; Lahti L; Partanen J; Ali BR; Al-Gazali L
    Am J Med Genet A; 2016 Aug; 170(8):2111-8. PubMed ID: 27183861
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.
    Hamdan FF; Gauthier J; Spiegelman D; Noreau A; Yang Y; Pellerin S; Dobrzeniecka S; Côté M; Perreau-Linck E; Carmant L; D'Anjou G; Fombonne E; Addington AM; Rapoport JL; Delisi LE; Krebs MO; Mouaffak F; Joober R; Mottron L; Drapeau P; Marineau C; Lafrenière RG; Lacaille JC; Rouleau GA; Michaud JL;
    N Engl J Med; 2009 Feb; 360(6):599-605. PubMed ID: 19196676
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Identification of a novel nonsense homozygous mutation of LINS1 gene in two sisters with intellectual disability, schizophrenia, and anxiety.
    Chen CH; Huang YS; Fang TH
    Biomed J; 2021 Dec; 44(6):748-751. PubMed ID: 34450347
    [TBL] [Abstract][Full Text] [Related]  

  • 25. A Novel LINS1 Truncating Mutation in Autosomal Recessive Nonsyndromic Intellectual Disability.
    Muthusamy B; Bellad A; Prasad P; Bandari AK; Bhuvanalakshmi G; Kiragasur RM; Girimaj SC; Pandey A
    Front Psychiatry; 2020; 11():354. PubMed ID: 32499722
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A homozygous mutation in CMAS causes autosomal recessive intellectual disability in a Kazakh family.
    Qu R; Sang Q; Wang X; Xu Y; Chen B; Mu J; Zhang Z; Jin L; He L; Wang L
    Ann Hum Genet; 2020 Jan; 84(1):46-53. PubMed ID: 31495922
    [TBL] [Abstract][Full Text] [Related]  

  • 27. The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.
    Khan MA; Khan S; Windpassinger C; Badar M; Nawaz Z; Mohammad RM
    Ann Hum Genet; 2016 Nov; 80(6):342-368. PubMed ID: 27870114
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient.
    Yoshida K; Hayashi R; Fujita H; Kubota M; Kondo M; Shimomura Y; Niizeki H
    J Dermatol; 2015 Jul; 42(7):715-9. PubMed ID: 25913853
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. De novo deletion of FMN2 in a girl with mild non-syndromic intellectual disability.
    Almuqbil M; Hamdan FF; Mathonnet G; Rosenblatt B; Srour M
    Eur J Med Genet; 2013 Dec; 56(12):686-8. PubMed ID: 24161494
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome.
    Koehler K; Schuelke M; Hell AK; Schittkowski M; Huebner A; Brockmann K
    Am J Med Genet A; 2020 Mar; 182(3):570-575. PubMed ID: 31825161
    [TBL] [Abstract][Full Text] [Related]  

  • 33. De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features.
    Lozier ER; Konovalov FA; Kanivets IV; Pyankov DV; Koshkin PA; Baleva LS; Sipyagina AE; Yakusheva EN; Kuchina AE; Korostelev SA
    J Hum Genet; 2018 Jul; 63(8):919-922. PubMed ID: 29760529
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family.
    Mir A; Sritharan K; Mittal K; Vasli N; Araujo C; Jamil T; Rafiq MA; Anwar Z; Mikhailov A; Rauf S; Mahmood H; Shakoor A; Ali S; So J; Naeem F; Ayub M; Vincent JB
    Hum Genet; 2014 Aug; 133(8):975-84. PubMed ID: 24623383
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
    Thomas AC; Williams H; Setó-Salvia N; Bacchelli C; Jenkins D; O'Sullivan M; Mengrelis K; Ishida M; Ocaka L; Chanudet E; James C; Lescai F; Anderson G; Morrogh D; Ryten M; Duncan AJ; Pai YJ; Saraiva JM; Ramos F; Farren B; Saunders D; Vernay B; Gissen P; Straatmaan-Iwanowska A; Baas F; Wood NW; Hersheson J; Houlden H; Hurst J; Scott R; Bitner-Glindzicz M; Moore GE; Sousa SB; Stanier P
    Am J Hum Genet; 2014 Nov; 95(5):611-21. PubMed ID: 25439728
    [TBL] [Abstract][Full Text] [Related]  

  • 37. A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability.
    Amin M; Vignal C; Eltaraifee E; Mohammed IN; Hamed AAA; Elseed MA; Babai A; Elbadi I; Mustafa D; Abubaker R; Mustafa M; Drunat S; Elsayed LEO; Ahmed AE; Boespflug-Tanguy O; Dorboz I
    BMC Med Genomics; 2022 Nov; 15(1):236. PubMed ID: 36348459
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.
    Alanay Y; Ergüner B; Utine E; Haçariz O; Kiper PO; Taşkıran EZ; Perçin F; Uz E; Sağiroğlu MŞ; Yuksel B; Boduroglu K; Akarsu NA
    Am J Med Genet A; 2014 Feb; 164A(2):291-304. PubMed ID: 24194475
    [TBL] [Abstract][Full Text] [Related]  

  • 40. UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN.
    Perez Y; Kadir R; Volodarsky M; Noyman I; Flusser H; Shorer Z; Gradstein L; Birnbaum RY; Birk OS
    J Med Genet; 2016 Jun; 53(6):397-402. PubMed ID: 26545877
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.