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Journal Abstract Search

162 related items for PubMed ID: 38375126

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  • 3. A novel framework for functional annotation of variants of uncertain significance in ID/ASD risk gene CC2D1A.
    Bhattacharya A, Parlanti P, Cavallo L, Farrow E, Spivey T, Renieri A, Mari F, Manzini MC.
    Hum Mol Genet; 2024 Jul 06; 33(14):1229-1240. PubMed ID: 38652285
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  • 4. A novel variant of C12orf4 linked to autosomal recessive intellectual disability type 66 with phenotype expansion.
    Rashvand Z, Kahrizi K, Najmabadi H, Najafipour R, Omrani MD.
    J Gene Med; 2022 Apr 06; 24(4):e3406. PubMed ID: 34967075
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  • 5. Loss of the Intellectual Disability and Autism Gene Cc2d1a and Its Homolog Cc2d1b Differentially Affect Spatial Memory, Anxiety, and Hyperactivity.
    Zamarbide M, Oaks AW, Pond HL, Adelman JS, Manzini MC.
    Front Genet; 2018 Apr 06; 9():65. PubMed ID: 29552027
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  • 6. Novel alterations of CC2D1A as a candidate gene in a Turkish sample of patients with autism spectrum disorder.
    Sener EF, Onal MG, Dal F, Nalbantoglu U, Ozkul Y, Canatan H, Oztop DB.
    Int J Neurosci; 2022 Nov 06; 132(11):1072-1079. PubMed ID: 33287601
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  • 9. The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation.
    Basel-Vanagaite L, Attia R, Yahav M, Ferland RJ, Anteki L, Walsh CA, Olender T, Straussberg R, Magal N, Taub E, Drasinover V, Alkelai A, Bercovich D, Rechavi G, Simon AJ, Shohat M.
    J Med Genet; 2006 Mar 06; 43(3):203-10. PubMed ID: 16033914
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  • 11. A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family.
    Sheereen A, Alaamery M, Bawazeer S, Al Yafee Y, Massadeh S, Eyaid W.
    J Med Genet; 2017 Apr 06; 54(4):236-240. PubMed ID: 28143899
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  • 12. 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 06; 36(2):e24241. PubMed ID: 35019165
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  • 13. 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 06; 43(5):503-512. PubMed ID: 33710595
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  • 15. 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 06; 23(4):973-984. PubMed ID: 28397838
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  • 17. The roles of CC2D1A and HTR1A gene expressions in autism spectrum disorders.
    Sener EF, Cıkılı Uytun M, Korkmaz Bayramov K, Zararsiz G, Oztop DB, Canatan H, Ozkul Y.
    Metab Brain Dis; 2016 Jun 06; 31(3):613-9. PubMed ID: 26782176
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  • 18. Homozygous Missense Variant in the N-Terminal Region of ANK3 Gene Is Associated with Developmental Delay, Seizures, Speech Abnormality, and Aggressive Behavior.
    Younus M, Rasheed M, Lin Z, Asiri SA, Almazni IA, Alshehri MA, Shafiq S, Iqbal I, Khan A, Ullah H, Umair M, Waqas A.
    Mol Syndromol; 2023 Feb 06; 14(1):11-20. PubMed ID: 36777705
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