Axenfeld–Rieger syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Axenfeld–Rieger syndrome" in English language version.

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doi.org

  • Dhir, L; Frimpong-Ansah, K; Habib, Nabil E (2008). "Missed case of Axenfeld-Rieger syndrome: a case report". Cases Journal. 1 (1): 299. doi:10.1186/1757-1626-1-299. PMC 2585579. PMID 18990239.
  • Fitch, Naomi; Kaback, Martin (1978). "The Axenfeld syndrome and the Rieger syndrome". Journal of Medical Genetics. 15 (1): 30–4. doi:10.1136/jmg.15.1.30. PMC 1012820. PMID 416212.
  • Chang, Ta C.; Summers, C. Gail; Schimmenti, Lisa A.; Grajewski, Alana L. (March 2012). "Axenfeld-Rieger syndrome: new perspectives". The British Journal of Ophthalmology. 96 (3): 318–322. doi:10.1136/bjophthalmol-2011-300801. ISSN 1468-2079. PMID 22199394. S2CID 43009007.
  • Suzuki, Katsuhiro; Nakamura, Makoto; Amano, Emi; Mokuno, Kumiko; Shirai, Shoichiro; Terasaki, Hiroko (2006). "Case of chromosome 6p25 terminal deletion associated with Axenfeld–Rieger syndrome and persistent hyperplastic primary vitreous". American Journal of Medical Genetics Part A. 140 (5): 503–8. doi:10.1002/ajmg.a.31085. PMID 16470791. S2CID 30723949.
  • Tonoki, Hidefumi; Harada, Naoki; Shimokawa, Osamu; Yosozumi, Ayako; Monzaki, Kadomi; Satoh, Kohei; Kosaki, Rika; Sato, Atsushi; Matsumoto, Naomichi; Iizuka, Susumu (2011). "Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: Clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25". American Journal of Medical Genetics Part A. 155A (12): 2925–32. doi:10.1002/ajmg.a.33858. PMID 22009788. S2CID 520308.
  • Meyer-Marcotty, P.; Weisschuh, N.; Dressler, P.; Hartmann, J.; Stellzig-Eisenhauer, A. (2008). "Morphology of the sella turcica in Axenfeld-Rieger syndrome with PITX2 mutation". Journal of Oral Pathology & Medicine. 37 (8): 504–10. doi:10.1111/j.1600-0714.2008.00650.x. PMID 18331556.
  • Lowry, R. Brian; Gould, Douglas B.; Walter, Michael A.; Savage, Paul R. (2007). "Absence of PITX2, BARX1, and FOXC1 mutations in De Hauwere syndrome (Axenfeld–Rieger anomaly, hydrocephaly, hearing loss): A 25-year follow up". American Journal of Medical Genetics Part A. 143A (11): 1227–30. doi:10.1002/ajmg.a.31732. PMID 17486624. S2CID 44935786.
  • Reis, LM; Semina, EV (September 2011). "Genetics of anterior segment dysgenesis disorders". Current Opinion in Ophthalmology. 22 (5): 314–24. doi:10.1097/ICU.0b013e328349412b. PMC 3558283. PMID 21730847.

medlineplus.gov

molvis.org

nih.gov

pubmed.ncbi.nlm.nih.gov

  • Dhir, L; Frimpong-Ansah, K; Habib, Nabil E (2008). "Missed case of Axenfeld-Rieger syndrome: a case report". Cases Journal. 1 (1): 299. doi:10.1186/1757-1626-1-299. PMC 2585579. PMID 18990239.
  • Vieira, Véronique; David, Gabriel; Roche, Olivier; de la Houssaye, Guillaume; Boutboul, Sandrine; Arbogast, Laurence; Kobetz, Alexandra; Orssaud, Christophe; Camand, Olivier; Schorderet, Daniel F.; Munier, Francis; Rossi, Annick; Delezoide, Anne Lise; Marsac, Cécile; Ricquier, Daniel; Dufier, Jean-Louis; Menasche, Maurice; Abitbol, M. (2006). "Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome". Molecular Vision. 12: 1448–60. PMID 17167399. Archived from the original on 2020-07-14. Retrieved 2008-08-28.
  • Fitch, Naomi; Kaback, Martin (1978). "The Axenfeld syndrome and the Rieger syndrome". Journal of Medical Genetics. 15 (1): 30–4. doi:10.1136/jmg.15.1.30. PMC 1012820. PMID 416212.
  • Chang, Ta C.; Summers, C. Gail; Schimmenti, Lisa A.; Grajewski, Alana L. (March 2012). "Axenfeld-Rieger syndrome: new perspectives". The British Journal of Ophthalmology. 96 (3): 318–322. doi:10.1136/bjophthalmol-2011-300801. ISSN 1468-2079. PMID 22199394. S2CID 43009007.
  • Suzuki, Katsuhiro; Nakamura, Makoto; Amano, Emi; Mokuno, Kumiko; Shirai, Shoichiro; Terasaki, Hiroko (2006). "Case of chromosome 6p25 terminal deletion associated with Axenfeld–Rieger syndrome and persistent hyperplastic primary vitreous". American Journal of Medical Genetics Part A. 140 (5): 503–8. doi:10.1002/ajmg.a.31085. PMID 16470791. S2CID 30723949.
  • Tonoki, Hidefumi; Harada, Naoki; Shimokawa, Osamu; Yosozumi, Ayako; Monzaki, Kadomi; Satoh, Kohei; Kosaki, Rika; Sato, Atsushi; Matsumoto, Naomichi; Iizuka, Susumu (2011). "Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: Clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25". American Journal of Medical Genetics Part A. 155A (12): 2925–32. doi:10.1002/ajmg.a.33858. PMID 22009788. S2CID 520308.
  • Meyer-Marcotty, P.; Weisschuh, N.; Dressler, P.; Hartmann, J.; Stellzig-Eisenhauer, A. (2008). "Morphology of the sella turcica in Axenfeld-Rieger syndrome with PITX2 mutation". Journal of Oral Pathology & Medicine. 37 (8): 504–10. doi:10.1111/j.1600-0714.2008.00650.x. PMID 18331556.
  • Lowry, R. Brian; Gould, Douglas B.; Walter, Michael A.; Savage, Paul R. (2007). "Absence of PITX2, BARX1, and FOXC1 mutations in De Hauwere syndrome (Axenfeld–Rieger anomaly, hydrocephaly, hearing loss): A 25-year follow up". American Journal of Medical Genetics Part A. 143A (11): 1227–30. doi:10.1002/ajmg.a.31732. PMID 17486624. S2CID 44935786.
  • Reis, LM; Semina, EV (September 2011). "Genetics of anterior segment dysgenesis disorders". Current Opinion in Ophthalmology. 22 (5): 314–24. doi:10.1097/ICU.0b013e328349412b. PMC 3558283. PMID 21730847.
  • Phillips, Jeffrey C.; del Bono, Elizabeth A.; Haines, Jonathan L.; Pralea, Anca Madalina; Cohen, John S.; Greff, Linda J.; Wiggs, Janey L. (1996). "A second locus for Rieger syndrome maps to chromosome 13q14". American Journal of Human Genetics. 59 (3): 613–9. PMC 1914897. PMID 8751862.

ncbi.nlm.nih.gov

  • Dhir, L; Frimpong-Ansah, K; Habib, Nabil E (2008). "Missed case of Axenfeld-Rieger syndrome: a case report". Cases Journal. 1 (1): 299. doi:10.1186/1757-1626-1-299. PMC 2585579. PMID 18990239.
  • Fitch, Naomi; Kaback, Martin (1978). "The Axenfeld syndrome and the Rieger syndrome". Journal of Medical Genetics. 15 (1): 30–4. doi:10.1136/jmg.15.1.30. PMC 1012820. PMID 416212.
  • "Axenfeld-Rieger syndrome type 1". National Center for Biotechnology Information. Archived from the original on 2020-11-04. Retrieved 2017-08-30.
  • Reis, LM; Semina, EV (September 2011). "Genetics of anterior segment dysgenesis disorders". Current Opinion in Ophthalmology. 22 (5): 314–24. doi:10.1097/ICU.0b013e328349412b. PMC 3558283. PMID 21730847.
  • Phillips, Jeffrey C.; del Bono, Elizabeth A.; Haines, Jonathan L.; Pralea, Anca Madalina; Cohen, John S.; Greff, Linda J.; Wiggs, Janey L. (1996). "A second locus for Rieger syndrome maps to chromosome 13q14". American Journal of Human Genetics. 59 (3): 613–9. PMC 1914897. PMID 8751862.

revistaoce.com

semanticscholar.org

api.semanticscholar.org

  • Chang, Ta C.; Summers, C. Gail; Schimmenti, Lisa A.; Grajewski, Alana L. (March 2012). "Axenfeld-Rieger syndrome: new perspectives". The British Journal of Ophthalmology. 96 (3): 318–322. doi:10.1136/bjophthalmol-2011-300801. ISSN 1468-2079. PMID 22199394. S2CID 43009007.
  • Suzuki, Katsuhiro; Nakamura, Makoto; Amano, Emi; Mokuno, Kumiko; Shirai, Shoichiro; Terasaki, Hiroko (2006). "Case of chromosome 6p25 terminal deletion associated with Axenfeld–Rieger syndrome and persistent hyperplastic primary vitreous". American Journal of Medical Genetics Part A. 140 (5): 503–8. doi:10.1002/ajmg.a.31085. PMID 16470791. S2CID 30723949.
  • Tonoki, Hidefumi; Harada, Naoki; Shimokawa, Osamu; Yosozumi, Ayako; Monzaki, Kadomi; Satoh, Kohei; Kosaki, Rika; Sato, Atsushi; Matsumoto, Naomichi; Iizuka, Susumu (2011). "Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: Clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25". American Journal of Medical Genetics Part A. 155A (12): 2925–32. doi:10.1002/ajmg.a.33858. PMID 22009788. S2CID 520308.
  • Lowry, R. Brian; Gould, Douglas B.; Walter, Michael A.; Savage, Paul R. (2007). "Absence of PITX2, BARX1, and FOXC1 mutations in De Hauwere syndrome (Axenfeld–Rieger anomaly, hydrocephaly, hearing loss): A 25-year follow up". American Journal of Medical Genetics Part A. 143A (11): 1227–30. doi:10.1002/ajmg.a.31732. PMID 17486624. S2CID 44935786.

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