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Journal Abstract Search

508 related items for PubMed ID: 33710595

  • 21. 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
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  • 24. 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
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  • 27. 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
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  • 28. Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability.
    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
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  • 31. Effect of inbreeding on intellectual disability revisited by trio sequencing.
    Kahrizi K, Hu H, Hosseini M, Kalscheuer VM, Fattahi Z, Beheshtian M, Suckow V, Mohseni M, Lipkowitz B, Mehvari S, Mehrjoo Z, Akhtarkhavari T, Ghaderi Z, Rahimi M, Arzhangi S, Jamali P, Falahat Chian M, Nikuei P, Sabbagh Kermani F, Sadeghinia F, Jazayeri R, Tonekaboni SH, Khoshaeen A, Habibi H, Pourfatemi F, Mojahedi F, Khodaie-Ardakani MR, Najafipour R, Wienker TF, Najmabadi H, Ropers HH.
    Clin Genet; 2019 Jan; 95(1):151-159. PubMed ID: 30315573
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  • 32. Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria, and severe intellectual disability in a Pakhtun family.
    Khan AU, Khan I, Khan MI, Latif M, Siddiqui MI, Khan SU, Htar TT, Wahid G, Ullah I, Bibi F, Khan A, Naseer MI, Seo GH, Jelani M.
    Am J Med Genet A; 2022 Sep; 188(9):2693-2700. PubMed ID: 35703069
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  • 33. SCAPER-Related Autosomal Recessive Retinitis Pigmentosa with Intellectual Disability: Confirming and Extending the Phenotypic Spectrum and Bioinformatics Analyses.
    Sharkia R, Zalan A, Kessel A, Al-Shareef W, Zahalka H, Hengel H, Schöls L, Azem A, Mahajnah M.
    Genes (Basel); 2024 Jun 16; 15(6):. PubMed ID: 38927727
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  • 34. Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.
    Järvelä I, Määttä T, Acharya A, Leppälä J, Jhangiani SN, Arvio M, Siren A, Kankuri-Tammilehto M, Kokkonen H, Palomäki M, Varilo T, Fang M, Hadley TD, Jolly A, Linnankivi T, Paetau R, Saarela A, Kälviäinen R, Olme J, Nouel-Saied LM, Cornejo-Sanchez DM, Llaci L, Lupski JR, Posey JE, Leal SM, Schrauwen I.
    Hum Genet; 2021 Jul 16; 140(7):1011-1029. PubMed ID: 33710394
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  • 35. Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families.
    Hussain SI, Muhammad N, Shah SA, Rehman AU, Khan SA, Saleha S, Khan YM, Muhammad N, Khan S, Wasif N.
    BMC Med Genomics; 2024 Jul 02; 17(1):176. PubMed ID: 38956580
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  • 36. 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 01; 22(8):461-471. PubMed ID: 31679349
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  • 37. 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 16; 10(1):26. PubMed ID: 27421267
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  • 38. A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.
    Kakar N, Goebel I, Daud S, Nürnberg G, Agha N, Ahmad A, Nürnberg P, Kubisch C, Ahmad J, Borck G.
    Eur J Med Genet; 2012 Dec 16; 55(12):727-31. PubMed ID: 22989526
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  • 39. Clinical genomics expands the link between erroneous cell division, primary microcephaly and intellectual disability.
    Saima, Khan A, Ali S, Jiang J, Miao Z, Kamil A, Khan SN, Arold ST.
    Neurogenetics; 2024 Jul 16; 25(3):179-191. PubMed ID: 38795246
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  • 40. TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype.
    Marangi G, Leuzzi V, Manti F, Lattante S, Orteschi D, Pecile V, Neri G, Zollino M.
    Eur J Hum Genet; 2013 Feb 16; 21(2):229-32. PubMed ID: 22549410
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