172 related articles for article (PubMed ID: 20803647)
1. Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome.
Numakura C; Kitanaka S; Kato M; Ishikawa S; Hamamoto Y; Katsushima Y; Kimura T; Hayasaka K
Am J Med Genet A; 2010 Sep; 152A(9):2355-9. PubMed ID: 20803647
[TBL] [Abstract][Full Text] [Related]
2. [SOX2 defect and anophthalmia and microphthalmia].
Ye FX; Fan XQ
Zhonghua Yan Ke Za Zhi; 2012 Nov; 48(11):1049-52. PubMed ID: 23302280
[TBL] [Abstract][Full Text] [Related]
3. SOX2 anophthalmia syndrome and dental anomalies.
Chacon-Camacho OF; Fuerte-Flores BI; Ricardez-Marcial EF; Zenteno JC
Am J Med Genet A; 2015 Nov; 167A(11):2830-3. PubMed ID: 26250054
[TBL] [Abstract][Full Text] [Related]
4. A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies.
Pedace L; Castori M; Binni F; Pingi A; Grammatico B; Scommegna S; Majore S; Grammatico P
Eur J Med Genet; 2009; 52(4):273-6. PubMed ID: 19254784
[TBL] [Abstract][Full Text] [Related]
5. Mutations in VSX2, SOX2, and FOXE3 Identified in Patients with Micro-/Anophthalmia.
Habibi I; Youssef M; Marzouk E; El Shakankiri N; Gawdat G; El Sada M; F Schorderet D; Abou Zeid H
Adv Exp Med Biol; 2019; 1185():221-226. PubMed ID: 31884615
[TBL] [Abstract][Full Text] [Related]
6. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions.
Bakrania P; Robinson DO; Bunyan DJ; Salt A; Martin A; Crolla JA; Wyatt A; Fielder A; Ainsworth J; Moore A; Read S; Uddin J; Laws D; Pascuel-Salcedo D; Ayuso C; Allen L; Collin JR; Ragge NK
Br J Ophthalmol; 2007 Nov; 91(11):1471-6. PubMed ID: 17522144
[TBL] [Abstract][Full Text] [Related]
7. The master transcription factor SOX2, mutated in anophthalmia/microphthalmia, is post-transcriptionally regulated by the conserved RNA-binding protein RBM24 in vertebrate eye development.
Dash S; Brastrom LK; Patel SD; Scott CA; Slusarski DC; Lachke SA
Hum Mol Genet; 2020 Mar; 29(4):591-604. PubMed ID: 31814023
[TBL] [Abstract][Full Text] [Related]
8. Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters.
Schneider A; Bardakjian TM; Zhou J; Hughes N; Keep R; Dorsainville D; Kherani F; Katowitz J; Schimmenti LA; Hummel M; Fitzpatrick DR; Young TL
Am J Med Genet A; 2008 Nov; 146A(21):2794-8. PubMed ID: 18831064
[TBL] [Abstract][Full Text] [Related]
9. Non-syndromal multiple supernumerary and permanent impacted teeth in mother and her one child.
Rai A; Jain A; Agrawal GD; Agrawal S
BMJ Case Rep; 2020 Aug; 13(8):. PubMed ID: 32847888
[TBL] [Abstract][Full Text] [Related]
10. A rare case of hereditary multiple impacted normal and supernumerary teeth.
Babu V; Nagesh KS; Diwakar NR
J Clin Pediatr Dent; 1998; 23(1):59-61. PubMed ID: 10023236
[TBL] [Abstract][Full Text] [Related]
11. Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring.
Stark Z; Storen R; Bennetts B; Savarirayan R; Jamieson RV
Eur J Hum Genet; 2011 Jul; 19(7):753-6. PubMed ID: 21326281
[TBL] [Abstract][Full Text] [Related]
12. Status dystonicus, hyperpyrexia, and acute kidney injury in a patient with SOX2-anophthalmia syndrome.
Martinez E; Madsen EC
Am J Med Genet A; 2019 Jul; 179(7):1395-1397. PubMed ID: 30945433
[No Abstract] [Full Text] [Related]
13. A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency.
Macchiaroli A; Kelberman D; Auriemma RS; Drury S; Islam L; Giangiobbe S; Ironi G; Lench N; Sowden JC; Colao A; Pivonello R; Cavallo L; Gasperi M; Faienza MF
Gene; 2014 Jan; 534(2):282-5. PubMed ID: 24211324
[TBL] [Abstract][Full Text] [Related]
14. Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes.
Reis LM; Tyler RC; Schneider A; Bardakjian T; Semina EV
Mol Vis; 2010 Apr; 16():768-73. PubMed ID: 20454695
[TBL] [Abstract][Full Text] [Related]
15. Familial occurrence of nonsyndromal multiple supernumerary teeth. A rare condition.
Orhan AI; Ozer L; Orhan K
Angle Orthod; 2006 Sep; 76(5):891-7. PubMed ID: 17029528
[TBL] [Abstract][Full Text] [Related]
16. SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia.
Mauri L; Franzoni A; Scarcello M; Sala S; Garavelli L; Modugno A; Grammatico P; Patrosso MC; Piozzi E; Del Longo A; Gesu GP; Manfredini E; Primignani P; Damante G; Penco S
Eur J Med Genet; 2015 Feb; 58(2):66-70. PubMed ID: 25542770
[TBL] [Abstract][Full Text] [Related]
17. SOX2 pathogenic variants with normal eyes: Expanding the phenotypic spectrum.
Okoye O; Capasso J; Kopinsky SM; Amlie-Wolf L; Levin AV; Schneider A
Am J Med Genet A; 2023 Aug; 191(8):2198-2203. PubMed ID: 37163579
[TBL] [Abstract][Full Text] [Related]
18. Genetic analysis of SOX2 and VSX2 genes in 27 Egyptian families with anophthalmia and microphthalmia.
Ammar THA; Ismail S; Mansour OAA; El-Shafey MM; Doghish AS; Kamal AM; Abdel-Salam GMH
Ophthalmic Genet; 2017; 38(5):498-500. PubMed ID: 28121235
[No Abstract] [Full Text] [Related]
19. Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study.
Amlie-Wolf L; Bardakjian T; Kopinsky SM; Reis LM; Semina EV; Schneider A
Am J Med Genet A; 2022 Jan; 188(1):187-198. PubMed ID: 34562068
[TBL] [Abstract][Full Text] [Related]
20. Similar locations of impacted and supernumerary teeth in monozygotic twins: a report of 2 cases.
Langowska-Adamczyk H; Karmańska B
Am J Orthod Dentofacial Orthop; 2001 Jan; 119(1):67-70. PubMed ID: 11174542
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
