Voici un état de l'art des recherches sur l'aniridie en 2018 :
Macdonald GC, Hesselson SE, Chan JY, Jenkins AB, Laybutt DR, Hesselson D, Campbell LV.
Diabetes Res Clin Pract. 2018 Dec 17. pii: S0168-8227(18)31407-4. doi: 10.1016/j.diabres.2018.12.002. [Epub ahead of print]
PMID:
30572005
Select item 30556423
Casas-Llera P, Siverio A, Esquivel G, Bautista C, Alió JL.
Eur J Ophthalmol. 2018 Dec 17:1120672118818352. doi: 10.1177/1120672118818352. [Epub ahead of print]
PMID:
30556423
Select item 30480741.
Altered Signaling Pathways in Aniridia-Related Keratopathy.
Vicente A, Byström B, Pedrosa Domellöf F.
Invest Ophthalmol Vis Sci. 2018 Nov 1;59(13):5531-5541. doi: 10.1167/iovs.18-25175.
PMID:
30480741
Select item 30457409.
Hernández-Martínez N, González-Del Angel A, Alcántara-Ortigoza MA, González-Huerta LM, Cuevas-Covarrubias SA, Villanueva-Mendoza C.
Ophthalmic Genet. 2018 Dec;39(6):728-734. doi: 10.1080/13816810.2018.1547911. Epub 2018 Nov 20.
PMID:
30457409
Select item 30452766.
Systemic Associations of Childhood Glaucoma: A Review.
Midha N, Sidhu T, Chaturvedi N, Sinha R, Shende DR, Dada T, Gupta V, Sihota R.
J Pediatr Ophthalmol Strabismus. 2018 Nov 19;55(6):397-402. doi: 10.3928/01913913-20180905-01.
PMID:
30452766
Select item 30426773
Chen DD, Yang T, Zhu SQ.
Eur J Ophthalmol. 2018 Nov 14:1120672118810998. doi: 10.1177/1120672118810998. [Epub ahead of print]
PMID:
30426773
Select item 30386938.
Human eye conditions: insights from the fly eye.
Gaspar P, Almudi I, Nunes MDS, McGregor AP.
Hum Genet. 2018 Nov 1. doi: 10.1007/s00439-018-1948-2. [Epub ahead of print] Review.
PMID:
30386938
Select item 30386378
Tarilonte M, Morín M, Ramos P, Galdós M, Blanco-Kelly F, Villaverde C, Rey-Zamora D, Rebolleda G, Muñoz-Negrete FJ, Tahsin-Swafiri S, Gener B, Moreno-Pelayo MA, Ayuso C, Villamar M, Corton M.
Front Genet. 2018 Oct 17;9:479. doi: 10.3389/fgene.2018.00479. eCollection 2018.
PMID:
30386378
Select item 30334364
Bai Z, Kong X.
Mol Genet Genomic Med. 2018 Oct 17. doi: 10.1002/mgg3.481. [Epub ahead of print]
PMID:
30334364
Select item 20301534
Moosajee M, Hingorani M, Moore AT.
In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2003 May 20 [updated 2018 Oct 18].
PMID:
20301534
Select item 30315214
Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay.
Filatova AY, Vasilyeva TA, Marakhonov AV, Voskresenskaya AA, Zinchenko RA, Skoblov MY.
Eur J Hum Genet. 2018 Oct 12. doi: 10.1038/s41431-018-0288-y. [Epub ahead of print]
PMID:
30315214
Select item 30306299
["Blue eyes"-case report about the risks of cosmetic iris implants].
Kazerounian S, Tsirkinidou I, Kynigopoulos M, Müller M.
Ophthalmologe. 2018 Oct 10. doi: 10.1007/s00347-018-0792-z. [Epub ahead of print] German.
PMID:
30306299
Select item 30292490
Latta L, Nordström K, Stachon T, Langenbucher A, Fries FN, Szentmáry N, Seitz B, Käsmann-Kellner B.
Exp Eye Res. 2018 Oct 4;179:8-17. doi: 10.1016/j.exer.2018.10.002. [Epub ahead of print]
PMID:
30292490
Select item 30291432
Implication of non-coding PAX6 mutations in aniridia.
Plaisancié J, Tarilonte M, Ramos P, Jeanton-Scaramouche C, Gaston V, Dollfus H, Aguilera D, Kaplan J, Fares-Taie L, Blanco-Kelly F, Villaverde C, Francannet C, Goldenberg A, Arroyo I, Rozet JM, Ayuso C, Chassaing N, Calvas P, Corton M.
Hum Genet. 2018 Oct;137(10):831-846. doi: 10.1007/s00439-018-1940-x. Epub 2018 Oct 5.
PMID:
30291432
Select item 30290306
Yongblah K, Alford SC, Ryan BC, Chow RL, Howard PL.
Mol Ther Nucleic Acids. 2018 Dec 7;13:144-153. doi: 10.1016/j.omtn.2018.08.018. Epub 2018 Sep 1.
PMID:
30290306
Select item 30258099
Hickmott JW, Gunawardane U, Jensen K, Korecki AJ, Simpson EM.
Gene Ther. 2018 Dec;25(8):524-537. doi: 10.1038/s41434-018-0043-6. Epub 2018 Sep 26.
PMID:
30258099
Select item 30252749
Microstructural differences in visual white matter tracts in people with aniridia.
Burton CR, Schaeffer DJ, Bobilev AM, Pierce JE, Rodrigue AL, Krafft CE, Clementz BA, Lauderdale JD, McDowell JE.
Neuroreport. 2018 Dec 5;29(17):1473-1478. doi: 10.1097/WNR.0000000000001135.
PMID:
30252749
Select item 30249237
De Silva D, Williamson KA, Dayasiri KC, Suraweera N, Quinters V, Abeysekara H, Wanigasinghe J, De Silva D, De Silva H.
BMC Pediatr. 2018 Sep 24;18(1):308. doi: 10.1186/s12887-018-1286-5.
PMID:
30249237
Select item 30242502
The genetic architecture of aniridia and Gillespie syndrome.
Hall HN, Williamson KA, FitzPatrick DR.
Hum Genet. 2018 Sep 22. doi: 10.1007/s00439-018-1934-8. [Epub ahead of print] Review.
PMID:
30242502
Select item 30242500
Phenotype-genotype correlations and emerging pathways in ocular anterior segment dysgenesis.
Ma AS, Grigg JR, Jamieson RV.
Hum Genet. 2018 Sep 21. doi: 10.1007/s00439-018-1935-7. [Epub ahead of print] Review.
PMID:
30242500
Lin Y, Gao H, Zhu Y, Chen C, Li T, Liu B, Lyu C, Huang Y, Li H, Wu Q, Jin C, Liang X, Huang X, Lu L.
Mol Med Rep. 2018 Nov;18(5):4439-4445. doi: 10.3892/mmr.2018.9469. Epub 2018 Sep 10.
PMID:
30221735
Select item 30209266
Yoeruek E, Bartz-Schmidt KU.
Eye (Lond). 2018 Sep 12. doi: 10.1038/s41433-018-0202-4. [Epub ahead of print]
PMID:
30209266
Select item 30208147
The role of a femtosecond laser in congenital cataract associated with aniridia.
Gazzola LN, Ghem MRD, Serpe C, Santhiago MR, Mello GR.
Arq Bras Oftalmol. 2018 Sep-Oct;81(5):433-436. doi: 10.5935/0004-2749.20180083.
PMID:
30208147
Select item 30197953
A novel PAX6 nonsense mutation identified in an Iranian family with various eye anomalies.
Torkashvand A, Mohebbi M, Hashemi H.
J Curr Ophthalmol. 2018 Mar 7;30(3):234-238. doi: 10.1016/j.joco.2017.12.006. eCollection 2018 Sep.
PMID:
30197953
Select item 30170706
[The Boston keratoprosthesis in the management of corneal blindness: Indications and limitations].
Stolowy N, Callet M, Beylerian M, Hoffart L, Yin GHW.
J Fr Ophtalmol. 2018 Sep;41(7):642-649. doi: 10.1016/j.jfo.2017.11.039. Epub 2018 Aug 28. French.
PMID:
30170706
Select item 30167917
Mild aniridia phenotype: an under-recognized diagnosis of a severe inherited ocular disease.
Yahalom C, Blumenfeld A, Hendler K, Wussuki-Lior O, Macarov M, Shohat M, Khateb S.
Graefes Arch Clin Exp Ophthalmol. 2018 Nov;256(11):2157-2164. doi: 10.1007/s00417-018-4119-1. Epub 2018 Aug 30.
PMID:
30167917
Select item 30151985
Case of a novel PAX6 mutation with aniridia and insulin-dependent diabetes mellitus.
Motoda S, Fujita S, Kozawa J, Kimura T, Fukui K, Ikuno Y, Imagawa A, Iwahashi H, Shimomura I.
J Diabetes Investig. 2018 Aug 27. doi: 10.1111/jdi.12902. [Epub ahead of print]
PMID:
30151985
Select item 30092649
Corneal epithelial stem cells for corneal injury.
Bremond-Gignac D, Copin H, Benkhalifa M.
Expert Opin Biol Ther. 2018 Sep;18(9):997-1003. doi: 10.1080/14712598.2018.1508443. Epub 2018 Aug 9.
PMID:
30092649
Select item 30068309
Clinical features and outcome of corneal opacity associated with congenital glaucoma.
Kim YJ, Jeoung JW, Kim MK, Park KH, Yu YS, Oh JY.
BMC Ophthalmol. 2018 Aug 2;18(1):190. doi: 10.1186/s12886-018-0865-4.
PMID:
30068309
Select item 30055957
Traumatic aniridia after implantable phakic intraocular lens placement.
Winegar JW, Justin GA, Bower KS, Carlton DK.
J Cataract Refract Surg. 2018 Sep;44(9):1155-1157. doi: 10.1016/j.jcrs.2018.06.027. Epub 2018 Jul 25.
PMID:
30055957
Select item 30004958
Infectious Keratitis After Ocular Surface Stem Cell Transplantation.
Cheung AY, Sarnicola E, Eslani M, Kurji KH, Genereux BM, Govil A, Holland EJ.
Cornea. 2018 Nov;37(11):1395-1399. doi: 10.1097/ICO.0000000000001690.
PMID:
30004958
Select item 29965862
Newman LR, Rosenwasser GOD.
Cornea. 2018 Oct;37(10):1337-1341. doi: 10.1097/ICO.0000000000001672.
PMID:
29965862
Select item 29939776
Wang X, Liu X, Huang L, Fang S, Jia X, Xiao X, Li S, Guo X.
Curr Eye Res. 2018 Nov;43(11):1334-1341. doi: 10.1080/02713683.2018.1493129. Epub 2018 Jul 17.
PMID:
29939776
Select item 29932076
Syrimis A, Nicolaou N, Alexandrou A, Papaevripidou I, Nicolaou M, Loukianou E, Christophidou-Anastasiadou V, Malas S, Sismani C, Tanteles GA.
J Genet. 2018 Jun;97(2):555-562. Review.
PMID:
29932076
Select item 29930474
Goolam S, Carstens N, Ross M, Bentley D, Lopes M, Peden J, Kingsbury Z, Tsogka E, Barlow R, Carmichael TR, Ramsay M, Williams SE.
Mol Vis. 2018 Jun 9;24:407-413. eCollection 2018.
PMID:
29930474
Select item 29902091
Liu X, Wu Y, Miao Z, Zhang H, Gong B, Zhu X, Huang L, Shi Y, Hao F, Ma S, Lin H, Wang L, Yang Z.
Ophthalmic Genet. 2018 Aug;39(4):428-436. doi: 10.1080/13816810.2018.1466336. Epub 2018 Jun 14.
PMID:
29902091
Select item 29901133
Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation.
Syrimis A, Nicolaou N, Alexandrou A, Papaevripidou I, Nicolaou M, Loukianou E, Sismani C, Malas S, Christophidou-Anastasiadou V, Tanteles GA.
Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5.
PMID:
29901133
Select item 29899653
AlDarrab A, Malik R.
Middle East Afr J Ophthalmol. 2018 Jan-Mar;25(1):52-55. doi: 10.4103/meajo.MEAJO_291_17.
PMID:
29899653
Select item 29889891
Aniridia-related keratopathy: Structural changes in naïve and transplanted corneal buttons.
Vicente A, Byström B, Lindström M, Stenevi U, Pedrosa Domellöf F.
PLoS One. 2018 Jun 11;13(6):e0198822. doi: 10.1371/journal.pone.0198822. eCollection 2018.
PMID:
29889891
Select item 29850208
Phenotypic Variation in a Four-Generation Family with Aniridia Carrying a Novel PAX6 Mutation.
Wang GM, Prasov L, Al-Hasani H, Marrs CER, Tolia S, Wiinikka-Buesser L, Richards JE, Bohnsack BL.
J Ophthalmol. 2018 Apr 4;2018:5978293. doi: 10.1155/2018/5978293. eCollection 2018.
PMID:
29850208
Prognostic factors of pediatric glaucoma: a retrospective study.
Moschos MM, Nitoda E, Fenzel I, Song X, Langenbucher A, Kaesmann B, Seitz B, Gatzioufas Z.
Int Ophthalmol. 2018 Jan 18. doi: 10.1007/s10792-018-0819-0. [Epub ahead of print]
PMID:
29349523
Select item 29343077
Delayed Onset of Sleep in Adolescents With PAX6 Haploinsufficiency.
Hanish AE, Han JC.
Biol Res Nurs. 2018 Mar;20(2):237-243. doi: 10.1177/1099800417753670. Epub 2018 Jan 17.
PMID:
29343077
Select item 29169895
Carvalho DR, Medeiros JEG, Ribeiro DSM, Martins BJAF, Sobreira NLM.
Eur J Med Genet. 2018 Mar;61(3):134-138. doi: 10.1016/j.ejmg.2017.11.005. Epub 2017 Nov 21.
PMID:
29169895
Select item 29162348
Human aniridia limbal epithelial cells lack expression of keratins K3 and K12.
Latta L, Viestenz A, Stachon T, Colanesi S, Szentmáry N, Seitz B, Käsmann-Kellner B.
Exp Eye Res. 2018 Feb;167:100-109. doi: 10.1016/j.exer.2017.11.005. Epub 2017 Nov 21.
PMID:
29162348
Select item 29133179
Lagali N, Wowra B, Dobrowolski D, Utheim TP, Fagerholm P, Wylegala E.
Ocul Surf. 2018 Jan;16(1):163-172. doi: 10.1016/j.jtos.2017.11.003. Epub 2017 Nov 10.
PMID:
29133179
Select item 29101006
Lee HK, Kim MK, Oh JY.
Am J Ophthalmol. 2018 Jan;185:75-80. doi: 10.1016/j.ajo.2017.10.017. Epub 2017 Oct 31.
PMID:
29101006
Select item 28990998
Intermediate-Term and Long-Term Outcomes With the Boston Type 1 Keratoprosthesis in Aniridia.
Shah KJ, Cheung AY, Holland EJ.
Cornea. 2018 Jan;37(1):11-14. doi: 10.1097/ICO.0000000000001412.
PMID:
28990998
Select item 28923585
The genetics of congenital aniridia-a guide for the ophthalmologist.
Landsend ES, Utheim ØA, Pedersen HR, Lagali N, Baraas RC, Utheim TP.
Surv Ophthalmol. 2018 Jan - Feb;63(1):105-113. doi: 10.1016/j.survophthal.2017.09.004. Epub 2017 Sep 18.
PMID:
28923585
Select item 28906020
Käsmann-Kellner B, Latta L, Fries FN, Viestenz A, Seitz B.
Clin Anat. 2018 Apr;31(3):392-397. doi: 10.1002/ca.22987. Epub 2018 Feb 1.
PMID:
28906020
Select item 28620705
Topical bevacizumab treatment in aniridia.
Lapid-Gortzak R, Santana NTY, Nieuwendaal CP, Mourits MP, van der Meulen IJE.
Int Ophthalmol. 2018 Aug;38(4):1741-1746. doi: 10.1007/s10792-017-0605-4. Epub 2017 Jun 15.
PMID:
28620705
Select item 28613427
Viestenz A, Seitz B, Deland E, Fiorentzis M, Latta L, Viestenz A, Käsmann-Kellner B.
Clin Anat. 2018 Jan;31(1):64-67. doi: 10.1002/ca.22935. Epub 2017 Sep 15.
PMID:
28613427
Select item 28574137
Iris reconstruction using artificial iris prosthesis for management of aniridia.
Mostafa YS, Osman AA, Hassanein DH, Zeid AM, Sherif AM.
Eur J Ophthalmol. 2018 Jan;28(1):103-107. doi: 10.5301/ejo.5000991.
PMID:
28574137
Select item 27975340
Rohrbach JM.
Klin Monbl Augenheilkd. 2018 Mar;235(3):324-329. doi: 10.1055/s-0042-117836. Epub 2016 Dec 14. German. No abstract available.
PMID:
27975340
Select item 27929720
Unclassified Axenfeld-Rieger Syndrome: A CASE SERIES and Review of Literature.
Rao A, Padhy D, Sarangi S, Das G.
Semin Ophthalmol. 2018;33(3):300-307. doi: 10.1080/08820538.2016.1208767. Epub 2016 Dec 8. Review.
PMID:
27929720
Prognostic factors of pediatric glaucoma: a retrospective study.
Moschos MM, Nitoda E, Fenzel I, Song X, Langenbucher A, Kaesmann B, Seitz B, Gatzioufas Z.
Int Ophthalmol. 2018 Jan 18. doi: 10.1007/s10792-018-0819-0. [Epub ahead of print]
PMID:
29349523
Select item 29343077
Delayed Onset of Sleep in Adolescents With PAX6 Haploinsufficiency.
Hanish AE, Han JC.
Biol Res Nurs. 2018 Mar;20(2):237-243. doi: 10.1177/1099800417753670. Epub 2018 Jan 17.
PMID:
29343077
Select item 29169895
Carvalho DR, Medeiros JEG, Ribeiro DSM, Martins BJAF, Sobreira NLM.
Eur J Med Genet. 2018 Mar;61(3):134-138. doi: 10.1016/j.ejmg.2017.11.005. Epub 2017 Nov 21.
PMID:
29169895
Select item 29162348
Human aniridia limbal epithelial cells lack expression of keratins K3 and K12.
Latta L, Viestenz A, Stachon T, Colanesi S, Szentmáry N, Seitz B, Käsmann-Kellner B.
Exp Eye Res. 2018 Feb;167:100-109. doi: 10.1016/j.exer.2017.11.005. Epub 2017 Nov 21.
PMID:
29162348
Select item 29133179
Lagali N, Wowra B, Dobrowolski D, Utheim TP, Fagerholm P, Wylegala E.
Ocul Surf. 2018 Jan;16(1):163-172. doi: 10.1016/j.jtos.2017.11.003. Epub 2017 Nov 10.
PMID:
29133179
Select item 29101006
Lee HK, Kim MK, Oh JY.
Am J Ophthalmol. 2018 Jan;185:75-80. doi: 10.1016/j.ajo.2017.10.017. Epub 2017 Oct 31.
PMID:
29101006
Select item 28990998.
Intermediate-Term and Long-Term Outcomes With the Boston Type 1 Keratoprosthesis in Aniridia.
Shah KJ, Cheung AY, Holland EJ.
Cornea. 2018 Jan;37(1):11-14. doi: 10.1097/ICO.0000000000001412.
PMID:
28990998
Select item 28923585
The genetics of congenital aniridia-a guide for the ophthalmologist.
Landsend ES, Utheim ØA, Pedersen HR, Lagali N, Baraas RC, Utheim TP.
Surv Ophthalmol. 2018 Jan - Feb;63(1):105-113. doi: 10.1016/j.survophthal.2017.09.004. Epub 2017 Sep 18.
PMID:
28923585
Select item 28906020
Käsmann-Kellner B, Latta L, Fries FN, Viestenz A, Seitz B.
Clin Anat. 2018 Apr;31(3):392-397. doi: 10.1002/ca.22987. Epub 2018 Feb 1.
PMID:
28906020
Select item 28620705
Topical bevacizumab treatment in aniridia.
Lapid-Gortzak R, Santana NTY, Nieuwendaal CP, Mourits MP, van der Meulen IJE.
Int Ophthalmol. 2018 Aug;38(4):1741-1746. doi: 10.1007/s10792-017-0605-4. Epub 2017 Jun 15.
PMID:
28620705
Select item 28613427
Viestenz A, Seitz B, Deland E, Fiorentzis M, Latta L, Viestenz A, Käsmann-Kellner B.
Clin Anat. 2018 Jan;31(1):64-67. doi: 10.1002/ca.22935. Epub 2017 Sep 15.
PMID:
28613427
Select item 28574137
Iris reconstruction using artificial iris prosthesis for management of aniridia.
Mostafa YS, Osman AA, Hassanein DH, Zeid AM, Sherif AM.
Eur J Ophthalmol. 2018 Jan;28(1):103-107. doi: 10.5301/ejo.5000991.
PMID:
28574137
Select item 27975340
Rohrbach JM.
Klin Monbl Augenheilkd. 2018 Mar;235(3):324-329. doi: 10.1055/s-0042-117836. Epub 2016 Dec 14. German. No abstract available.
PMID:
27975340
Select item 27929720
Unclassified Axenfeld-Rieger Syndrome: A CASE SERIES and Review of Literature.
Rao A, Padhy D, Sarangi S, Das G.
Semin Ophthalmol. 2018;33(3):300-307. doi: 10.1080/08820538.2016.1208767. Epub 2016 Dec 8. Review.
PMID:
27929720














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