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.
202 related articles for article (PubMed ID: 17383910)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
7. 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]
8. 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]
9. 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]
10. Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B gene. Nasser F; Kurtenbach A; Biskup S; Weidensee S; Kohl S; Zrenner E Acta Ophthalmol; 2020 May; 98(3):e316-e321. PubMed ID: 31580008 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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; 21(7):736-42. PubMed ID: 23188044 [TBL] [Abstract][Full Text] [Related]
13. 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 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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 [TBL] [Abstract][Full Text] [Related]
16. 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; 252():93-100. PubMed ID: 36067876 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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 [TBL] [Abstract][Full Text] [Related]
19. 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]
20. [Cohen's syndrome: non-causal association with vascular rings]. Pérez-Caballero Macarrón C; Lozano Giménez C; Quintana Castilla A; Aparicio Meix JM An Esp Pediatr; 2000 Mar; 52(3):289-95. PubMed ID: 11003912 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]