These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

341 related articles for article (PubMed ID: 12730828)

  • 1. Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.
    Kolehmainen J; Black GC; Saarinen A; Chandler K; Clayton-Smith J; Träskelin AL; Perveen R; Kivitie-Kallio S; Norio R; Warburg M; Fryns JP; de la Chapelle A; Lehesjoki AE
    Am J Hum Genet; 2003 Jun; 72(6):1359-69. PubMed ID: 12730828
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.
    Hennies HC; Rauch A; Seifert W; Schumi C; Moser E; Al-Taji E; Tariverdian G; Chrzanowska KH; Krajewska-Walasek M; Rajab A; Giugliani R; Neumann TE; Eckl KM; Karbasiyan M; Reis A; Horn D
    Am J Hum Genet; 2004 Jul; 75(1):138-45. PubMed ID: 15154116
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.
    Kolehmainen J; Wilkinson R; Lehesjoki AE; Chandler K; Kivitie-Kallio S; Clayton-Smith J; Träskelin AL; Waris L; Saarinen A; Khan J; Gross-Tsur V; Traboulsi EI; Warburg M; Fryns JP; Norio R; Black GC; Manson FD
    Am J Hum Genet; 2004 Jul; 75(1):122-7. PubMed ID: 15141358
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Cohen syndrome in the Ohio Amish.
    Falk MJ; Feiler HS; Neilson DE; Maxwell K; Lee JV; Segall SK; Robin NH; Wilhelmsen KC; Träskelin AL; Kolehmainen J; Lehesjoki AE; Wiznitzer M; Warman ML
    Am J Med Genet A; 2004 Jul; 128A(1):23-8. PubMed ID: 15211651
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 16():41. PubMed ID: 26104215
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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; 48(2):136-40. PubMed ID: 20921020
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 18(1):134. PubMed ID: 29149870
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 286(43):37665-75. PubMed ID: 21865173
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population.
    Bugiani M; Gyftodimou Y; Tsimpouka P; Lamantea E; Katzaki E; d'Adamo P; Nakou S; Georgoudi N; Grigoriadou M; Tsina E; Kabolis N; Milani D; Pandelia E; Kokotas H; Gasparini P; Giannoulia-Karantana A; Renieri A; Zeviani M; Petersen MB
    Am J Med Genet A; 2008 Sep; 146A(17):2221-6. PubMed ID: 18655112
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 18(10):1133-40. PubMed ID: 20461111
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 21(1):140. PubMed ID: 32605629
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 68():83-88. PubMed ID: 29758347
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; ; Tatton-Brown K
    Am J Med Genet A; 2019 Apr; 179(4):588-594. PubMed ID: 30793471
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome.
    Balikova I; Lehesjoki AE; de Ravel TJ; Thienpont B; Chandler KE; Clayton-Smith J; Träskelin AL; Fryns JP; Vermeesch JR
    Hum Mutat; 2009 Sep; 30(9):E845-54. PubMed ID: 19533689
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Broader geographical spectrum of Cohen syndrome due to COH1 mutations.
    Mochida GH; Rajab A; Eyaid W; Lu A; Al-Nouri D; Kosaki K; Noruzinia M; Sarda P; Ishihara J; Bodell A; Apse K; Walsh CA
    J Med Genet; 2004 Jun; 41(6):e87. PubMed ID: 15173253
    [No Abstract]   [Full Text] [Related]  

  • 19. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.
    Seifert W; Holder-Espinasse M; Spranger S; Hoeltzenbein M; Rossier E; Dollfus H; Lacombe D; Verloes A; Chrzanowska KH; Maegawa GH; Chitayat D; Kotzot D; Huhle D; Meinecke P; Albrecht B; Mathijssen I; Leheup B; Raile K; Hennies HC; Horn D
    J Med Genet; 2006 May; 43(5):e22. PubMed ID: 16648375
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.