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Journal Abstract Search

166 related items for PubMed ID: 20683995

  • 1. Cerebellar hypoplasia and Cohen syndrome: a confirmed association.
    Waite A, Somer M, O'Driscoll M, Millen K, Manson FD, Chandler KE.
    Am J Med Genet A; 2010 Sep; 152A(9):2390-3. PubMed ID: 20683995
    [No Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.
    Enomoto Y, Tsurusaki Y, Yokoi T, Abe-Hatano C, Ida K, Naruto T, Mitsui J, Tsuji S, Morishita S, Kurosawa K.
    Eur J Med Genet; 2020 Jan; 63(1):103610. PubMed ID: 30602132
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  • 5. Mutations in the VPS13B Gene in Iranian Patients with Different Phenotypes of Cohen Syndrome.
    Alipour N, Salehpour S, Tonekaboni SH, Rostami M, Bahari S, Yassaee V, Miryounesi M, Ghafouri-Fard S.
    J Mol Neurosci; 2020 Jan; 70(1):21-25. PubMed ID: 31444703
    [Abstract] [Full Text] [Related]

  • 6. Whole Exome Sequencing Identifies a Novel Homozygous Duplication Mutation in the VPS13B Gene in an Indian Family with Cohen Syndrome.
    Kaushik P, Mahajan N, Girimaji SC, Kumar A.
    J Mol Neurosci; 2020 Aug; 70(8):1225-1228. PubMed ID: 32170714
    [Abstract] [Full Text] [Related]

  • 7. An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome.
    Boschann F, Fischer-Zirnsak B, Wienker TF, Holtgrewe M, Seelow D, Eichhorn B, Döhnert S, Fahsold R, Horn D, Graul-Neumann LM.
    Eur J Med Genet; 2020 Sep; 63(9):103973. PubMed ID: 32505691
    [Abstract] [Full Text] [Related]

  • 8. EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome.
    Griffiths S, Loveday C, Zachariou A, Behan LA, Chandler K, Cole T, D'Arrigo S, Dieckmann A, Foster A, Gibney J, Hunter M, Milani D, Pantaleoni C, Roche E, Sherlock M, Springer A, White SM, Childhood Overgrowth CollaborationDivision of Genetics and Epidemiology, Institute of Cancer Research, Sutton, United Kingdom., Tatton-Brown K.
    Am J Med Genet A; 2019 Apr; 179(4):588-594. PubMed ID: 30793471
    [Abstract] [Full Text] [Related]

  • 9. Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia.
    Duplomb L, Rivière J, Jego G, Da Costa R, Hammann A, Racine J, Schmitt A, Droin N, Capron C, Gougerot-Pocidalo MA, Dubrez L, Aral B, Lafon A, Edery P, Ghoumid J, Blair E, El Chehadeh-Djebbar S, Carmignac V, Thevenon J, Guy J, Girodon F, Bastie JN, Delva L, Faivre L, Thauvin-Robinet C, Solary E.
    J Mol Med (Berl); 2019 May; 97(5):633-645. PubMed ID: 30843084
    [Abstract] [Full Text] [Related]

  • 10. A Novel VPS13B Mutation Identified by Whole-Exome Sequencing in Iranian Patients with Cohen Syndrome.
    Karimzadeh MR, Omidi F, Sahebalzamani A, Saeidi K.
    J Mol Neurosci; 2021 Dec; 71(12):2566-2574. PubMed ID: 34041686
    [Abstract] [Full Text] [Related]

  • 11. Functional Analysis of a Compound Heterozygous Mutation in the VPS13B Gene in a Chinese Pedigree with Cohen Syndrome.
    Lou G, Ke Y, Zhang Y, Liangjie G, Shama SA, Qi N, Qin L, Liao S, Zhao Y.
    J Mol Neurosci; 2021 May; 71(5):943-952. PubMed ID: 33025479
    [Abstract] [Full Text] [Related]

  • 12. First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations.
    Rejeb I, Jilani H, Elaribi Y, Hizem S, Hila L, Zillahrdt JL, Chelly J, Benjemaa L.
    BMC Med Genet; 2017 Nov 17; 18(1):134. PubMed ID: 29149870
    [Abstract] [Full Text] [Related]

  • 13. Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family.
    Hashmi JA, Fadhli F, Almatrafi A, Afzal S, Ramzan K, Thiele H, Nürnberg P, Basit S.
    Brain Dev; 2020 Sep 17; 42(8):587-593. PubMed ID: 32402540
    [Abstract] [Full Text] [Related]

  • 14. Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.
    El Chehadeh-Djebbar S, Blair E, Holder-Espinasse M, Moncla A, Frances AM, Rio M, Debray FG, Rump P, Masurel-Paulet A, Gigot N, Callier P, Duplomb L, Aral B, Huet F, Thauvin-Robinet C, Faivre L.
    Eur J Hum Genet; 2013 Jul 17; 21(7):736-42. PubMed ID: 23188044
    [Abstract] [Full Text] [Related]

  • 15. The diverse genetic landscape of neurodevelopmental disorders.
    Hu WF, Chahrour MH, Walsh CA.
    Annu Rev Genomics Hum Genet; 2014 Jul 17; 15():195-213. PubMed ID: 25184530
    [Abstract] [Full Text] [Related]

  • 16. Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
    Rafiq MA, Leblond CS, Saqib MA, Vincent AK, Ambalavanan A, Khan FS, Ayaz M, Shaheen N, Spiegelman D, Ali G, Amin-ud-Din M, Laurent S, Mahmood H, Christian M, Ali N, Fennell A, Nanjiani Z, Egger G, Caron C, Waqas A, Ayub M, Rasheed S, Forgeot d'Arc B, Johnson A, So J, Brohi MQ, Mottron L, Ansar M, Vincent JB, Xiong L.
    BMC Med Genet; 2015 Jun 25; 16():41. PubMed ID: 26104215
    [Abstract] [Full Text] [Related]

  • 17. Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.
    Prokudin I, Li D, He S, Guo Y, Goodwin L, Wilson M, Rose L, Tian L, Chen Y, Liang J, Keating B, Xu X, Jamieson RV, Hakonarson H.
    Clin Exp Ophthalmol; 2015 Mar 25; 43(2):132-8. PubMed ID: 25060287
    [Abstract] [Full Text] [Related]

  • 18. [Psychomotor retardation with neutropenia for more than one year in a toddler].
    Zhang F, Shi XY, Liu LY, Liu YT, Zou LP.
    Zhongguo Dang Dai Er Ke Za Zhi; 2018 Jun 25; 20(6):497-500. PubMed ID: 29972126
    [Abstract] [Full Text] [Related]

  • 19. Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity.
    Seifert W, Kühnisch J, Maritzen T, Horn D, Haucke V, Hennies HC.
    J Biol Chem; 2011 Oct 28; 286(43):37665-75. PubMed ID: 21865173
    [Abstract] [Full Text] [Related]

  • 20. Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism.
    Ionita-Laza I, Capanu M, De Rubeis S, McCallum K, Buxbaum JD.
    PLoS Genet; 2014 Dec 28; 10(12):e1004729. PubMed ID: 25502226
    [Abstract] [Full Text] [Related]

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