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Journal Abstract Search

148 related items for PubMed ID: 23686687

  • 1. 6p25 microdeletion: white matter abnormalities in an adult patient.
    Vernon HJ, Bytyci Telegrafi A, Batista D, Owegi M, Leigh R.
    Am J Med Genet A; 2013 Jul; 161A(7):1686-9. PubMed ID: 23686687
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  • 2. Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25.
    Tonoki H, Harada N, Shimokawa O, Yosozumi A, Monzaki K, Satoh K, Kosaki R, Sato A, Matsumoto N, Iizuka S.
    Am J Med Genet A; 2011 Dec; 155A(12):2925-32. PubMed ID: 22009788
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  • 3. The 6p25 deletion syndrome: An update on a rare neurocristopathy.
    de Vos IJ, Stegmann AP, Webers CA, Stumpel CT.
    Ophthalmic Genet; 2017 Dec; 38(2):101-107. PubMed ID: 27070436
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  • 4. Axenfeld-Rieger Syndrome and Leukoencephalopathy Caused by a Mutation in FOXC1.
    Kumar M, Chambers C, Dhamija R.
    Pediatr Neurol; 2017 Jan; 66():113-114. PubMed ID: 27697311
    [No Abstract] [Full Text] [Related]

  • 5. Dysmyelination of the cerebral white matter with microdeletion at 6p25.
    Kapoor S, Mukherjee SB, Shroff D, Arora R.
    Indian Pediatr; 2011 Sep; 48(9):727-9. PubMed ID: 21992905
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  • 6. Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion.
    Cellini E, Disciglio V, Novara F, Barkovich JA, Mencarelli MA, Hayek J, Renieri A, Zuffardi O, Guerrini R.
    Am J Med Genet A; 2012 Jul; 158A(7):1793-7. PubMed ID: 22678982
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  • 7. Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene.
    Delahaye A, Khung-Savatovsky S, Aboura A, Guimiot F, Drunat S, Alessandri JL, Gérard M, Bitoun P, Boumendil J, Robin S, Huel C, Guilherme R, Serero S, Gressens P, Elion J, Verloes A, Benzacken B, Delezoide AL, Pipiras E.
    Am J Med Genet A; 2012 Oct; 158A(10):2430-8. PubMed ID: 22903608
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  • 8. Posterior segment findings in Axenfeld-Rieger syndrome.
    Jacobson A, Bohnsack BL.
    J AAPOS; 2022 Dec; 26(6):320-322. PubMed ID: 36152758
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  • 11. Ophthalmological Findings in 6p Deletion Syndrome.
    Cornelis T, Rayyan M, Devriendt K, Casteels I.
    Ophthalmic Genet; 2015 Jun; 36(2):165-7. PubMed ID: 25675350
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  • 15. Sensorineural hearing loss and hypoplastic cochlea in Axenfeld-Rieger syndrome with FOXC1 mutation.
    Yamazaki H, Nakamura T, Hosono K, Yamaguchi T, Hiratsuka Y, Hotta Y, Takahashi M.
    Auris Nasus Larynx; 2021 Dec; 48(6):1204-1208. PubMed ID: 32741584
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  • 16. Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome.
    Maclean K, Smith J, St Heaps L, Chia N, Williams R, Peters GB, Onikul E, McCrossin T, Lehmann OJ, Adès LC.
    Am J Med Genet A; 2005 Feb 01; 132A(4):381-5. PubMed ID: 15654696
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  • 18. Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25.
    Mirzayans F, Gould DB, Héon E, Billingsley GD, Cheung JC, Mears AJ, Walter MA.
    Eur J Hum Genet; 2000 Jan 01; 8(1):71-4. PubMed ID: 10713890
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  • 20. Phenotype of a Belgian Family With 6p25 Deletion Syndrome.
    Weegerink NJ, Swinnen FK, Vanakker OM, Casselman JW, Dhooge IJ.
    Ann Otol Rhinol Laryngol; 2016 Sep 01; 125(9):734-45. PubMed ID: 27242366
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