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Journal Abstract Search

166 related items for PubMed ID: 20683995

  • 21. Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication.
    Dastan J, Chijiwa C, Tang F, Martell S, Qiao Y, Rajcan-Separovic E, Lewis MES.
    BMC Med Genet; 2016 Nov 10; 17(1):78. PubMed ID: 27832746
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  • 22. Cohen syndrome diagnosis using whole genome arrays.
    Rivera-Brugués N, Albrecht B, Wieczorek D, Schmidt H, Keller T, Göhring I, Ekici AB, Tzschach A, Garshasbi M, Franke K, Klopp N, Wichmann HE, Meitinger T, Strom TM, Hempel M.
    J Med Genet; 2011 Feb 10; 48(2):136-40. PubMed ID: 20921020
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  • 23. Gene analysis: A rare gene disease of intellectual deficiency-Cohen syndrome.
    Yang C, Hou M, Li Y, Sun D, Guo Y, Liu P, Liu Y, Song J, Zhang N, Wei W, Chen Z.
    Int J Dev Neurosci; 2018 Aug 10; 68():83-88. PubMed ID: 29758347
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  • 24. A novel VPS13B mutation in Cohen syndrome: a case report and review of literature.
    Momtazmanesh S, Rayzan E, Shahkarami S, Rohlfs M, Klein C, Rezaei N.
    BMC Med Genet; 2020 Jun 30; 21(1):140. PubMed ID: 32605629
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  • 25. Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy.
    Gabrielle PH, Faivre L, Audo I, Zanlonghi X, Dollfus H, Thiadens AAHJ, Zeitz C, Mancini GMS, Perdomo Y, Mohand-Saïd S, Lizé E, Lhussiez V, Nandrot EF, Acar N, Creuzot-Garcher C, Sahel JA, Ansar M, Thauvin-Robinet C, Duplomb L, Da Costa R.
    Sci Rep; 2021 Aug 12; 11(1):16412. PubMed ID: 34385517
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  • 26. Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms.
    Zhao S, Luo Z, Xiao Z, Li L, Zhao R, Yang Y, Zhong Y.
    BMC Med Genet; 2019 Nov 21; 20(1):187. PubMed ID: 31752730
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  • 27. Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome.
    Zorn M, Kühnisch J, Bachmann S, Seifert W.
    Sci Rep; 2022 Jun 11; 12(1):9686. PubMed ID: 35690661
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  • 29. High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.
    Parri V, Katzaki E, Uliana V, Scionti F, Tita R, Artuso R, Longo I, Boschloo R, Vijzelaar R, Selicorni A, Brancati F, Dallapiccola B, Zelante L, Hamel CP, Sarda P, Lalani SR, Grasso R, Buoni S, Hayek J, Servais L, de Vries BB, Georgoudi N, Nakou S, Petersen MB, Mari F, Renieri A, Ariani F.
    Eur J Hum Genet; 2010 Oct 11; 18(10):1133-40. PubMed ID: 20461111
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  • 32. Early Diagnostic Signs and the Natural History of Typical Findings in Cohen Syndrome.
    Güneş N, Alkaya DU, Demirbilek V, Yalçınkaya C, Tüysüz B.
    J Pediatr; 2023 Jan 11; 252():93-100. PubMed ID: 36067876
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  • 34. The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder loci.
    Gillentine MA, Schaaf CP, Patel A.
    Am J Med Genet A; 2017 Sep 11; 173(9):2485-2488. PubMed ID: 28631888
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  • 37. MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia.
    Rodríguez-García ME, Cotrina-Vinagre FJ, Gómez-Cano MLÁ, Martínez de Aragón A, Martín-Hernández E, Martínez-Azorín F.
    Am J Med Genet A; 2020 Jun 11; 182(6):1483-1490. PubMed ID: 32198973
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  • 40. Congenital neuroblastoma: an autopsy report.
    Gupta K, Bansal A.
    Fetal Pediatr Pathol; 2012 Oct 11; 31(5):331-5. PubMed ID: 22432426
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