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 *

159 related articles for article (PubMed ID: 20656880)

  • 1. Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome.
    El Chehadeh S; Aral B; Gigot N; Thauvin-Robinet C; Donzel A; Delrue MA; Lacombe D; David A; Burglen L; Philip N; Moncla A; Cormier-Daire V; Rio M; Edery P; Verloes A; Bonneau D; Afenjar A; Jacquette A; Heron D; Sarda P; Pinson L; Doray B; Vigneron J; Leheup B; Frances-Guidet AM; Dienne G; Holder M; Masurel-Paulet A; Huet F; Teyssier JR; Faivre L
    J Med Genet; 2010 Aug; 47(8):549-53. PubMed ID: 20656880
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.
    Seifert W; Holder-Espinasse M; Kühnisch J; Kahrizi K; Tzschach A; Garshasbi M; Najmabadi H; Walter Kuss A; Kress W; Laureys G; Loeys B; Brilstra E; Mancini GM; Dollfus H; Dahan K; Apse K; Hennies HC; Horn D
    Hum Mutat; 2009 Feb; 30(2):E404-20. PubMed ID: 19006247
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations.
    Gueneau L; Duplomb L; Sarda P; Hamel C; Aral B; Chehadeh SE; Gigot N; St-Onge J; Callier P; Thevenon J; Huet F; Carmignac V; Droin N; Faivre L; Thauvin-Robinet C
    Am J Med Genet A; 2014 Feb; 164A(2):522-7. PubMed ID: 24311531
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Clinical variability of genetic isolates of Cohen syndrome.
    Douzgou S; Petersen MB
    Clin Genet; 2011 Jun; 79(6):501-6. PubMed ID: 21418059
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity.
    Horn D; Krebsová A; Kunze J; Reis A
    Am J Med Genet; 2000 Jun; 92(4):285-92. PubMed ID: 10842298
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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; 43(2):132-8. PubMed ID: 25060287
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features.
    Taban M; Memoracion-Peralta DS; Wang H; Al-Gazali LI; Traboulsi EI
    J AAPOS; 2007 Oct; 11(5):431-7. PubMed ID: 17383910
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A canine model of Cohen syndrome: Trapped Neutrophil Syndrome.
    Shearman JR; Wilton AN
    BMC Genomics; 2011 May; 12():258. PubMed ID: 21605373
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [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; 20(6):497-500. PubMed ID: 29972126
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Cohen syndrome. A new case and review of the literature].
    Calzolari S; Ballardini M; De Marco P
    Minerva Pediatr; 1995 Mar; 47(3):83-7. PubMed ID: 7791717
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 20(1):187. PubMed ID: 31752730
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.