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Results: 1 to 20 of 120

1.

Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia.

Desmaison A, Vigouroux A, Rieubland C, Peres C, Calvas P, Chassaing N.

Mol Vis. 2010 Dec 18;16:2847-9.

PMID:
21203406
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Mutations in the newly identified RAX regulatory sequence are not a frequent cause of micro/anophthalmia.

Chassaing N, Vigouroux A, Calvas P.

Genet Test Mol Biomarkers. 2009 Jun;13(3):289-90. doi: 10.1089/gtmb.2008.0143.

PMID:
19397404
[PubMed - indexed for MEDLINE]
3.

Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.

Zhou J, Kherani F, Bardakjian TM, Katowitz J, Hughes N, Schimmenti LA, Schneider A, Young TL.

Mol Vis. 2008 Mar 24;14:583-92.

PMID:
18385794
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

RAX and anophthalmia in humans: evidence of brain anomalies.

Abouzeid H, Youssef MA, Bayoumi N, ElShakankiri N, Marzouk I, Hauser P, Schorderet DF.

Mol Vis. 2012;18:1449-56. Epub 2012 Jun 2.

PMID:
22736936
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.

Gonzalez-Rodriguez J, Pelcastre EL, Tovilla-Canales JL, Garcia-Ortiz JE, Amato-Almanza M, Villanueva-Mendoza C, Espinosa-Mattar Z, Zenteno JC.

Br J Ophthalmol. 2010 Aug;94(8):1100-4. doi: 10.1136/bjo.2009.173500. Epub 2010 May 21.

PMID:
20494911
[PubMed - indexed for MEDLINE]
6.

Confirmation of RAX gene involvement in human anophthalmia.

Lequeux L, Rio M, Vigouroux A, Titeux M, Etchevers H, Malecaze F, Chassaing N, Calvas P.

Clin Genet. 2008 Oct;74(4):392-5. doi: 10.1111/j.1399-0004.2008.01078.x. Epub 2008 Sep 9.

PMID:
18783408
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

VSX2 mutations in autosomal recessive microphthalmia.

Reis LM, Khan A, Kariminejad A, Ebadi F, Tyler RC, Semina EV.

Mol Vis. 2011;17:2527-32. Epub 2011 Sep 28.

PMID:
21976963
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Whole-genome copy number variation analysis in anophthalmia and microphthalmia.

Schilter KF, Reis LM, Schneider A, Bardakjian TM, Abdul-Rahman O, Kozel BA, Zimmerman HH, Broeckel U, Semina EV.

Clin Genet. 2013 Nov;84(5):473-81. doi: 10.1111/cge.12202. Epub 2013 Jun 17.

PMID:
23701296
[PubMed - indexed for MEDLINE]
9.

CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds.

Bar-Yosef U, Abuelaish I, Harel T, Hendler N, Ofir R, Birk OS.

Hum Genet. 2004 Sep;115(4):302-9.

PMID:
15257456
[PubMed - indexed for MEDLINE]
10.

Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar.

Faiyaz-Ul-Haque M, Zaidi SH, Al-Mureikhi MS, Peltekova I, Tsui LC, Teebi AS.

Clin Genet. 2007 Aug;72(2):164-6. No abstract available.

PMID:
17661825
[PubMed - indexed for MEDLINE]
11.

Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma.

London NJ, Kessler P, Williams B, Pauer GJ, Hagstrom SA, Traboulsi EI.

Mol Vis. 2009;15:162-7. Epub 2009 Jan 21.

PMID:
19158959
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Anophthalmia and microphthalmia.

Verma AS, Fitzpatrick DR.

Orphanet J Rare Dis. 2007 Nov 26;2:47. Review.

PMID:
18039390
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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. Epub 2007 May 23.

PMID:
17522144
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea.

Voronina VA, Kozhemyakina EA, O'Kernick CM, Kahn ND, Wenger SL, Linberg JV, Schneider AS, Mathers PH.

Hum Mol Genet. 2004 Feb 1;13(3):315-22. Epub 2003 Dec 8.

PMID:
14662654
[PubMed - indexed for MEDLINE]
Free Article
15.

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 28;16:768-73.

PMID:
20454695
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.

Chassaing N, Causse A, Vigouroux A, Delahaye A, Alessandri JL, Boespflug-Tanguy O, Boute-Benejean O, Dollfus H, Duban-Bedu B, Gilbert-Dussardier B, Giuliano F, Gonzales M, Holder-Espinasse M, Isidor B, Jacquemont ML, Lacombe D, Martin-Coignard D, Mathieu-Dramard M, Odent S, Picone O, Pinson L, Quelin C, Sigaudy S, Toutain A, Thauvin-Robinet C, Kaplan J, Calvas P.

Clin Genet. 2014 Oct;86(4):326-34. doi: 10.1111/cge.12275. Epub 2013 Oct 7.

PMID:
24033328
[PubMed - in process]
17.

Human microphthalmia associated with mutations in the retinal homeobox gene CHX10.

Ferda Percin E, Ploder LA, Yu JJ, Arici K, Horsford DJ, Rutherford A, Bapat B, Cox DW, Duncan AM, Kalnins VI, Kocak-Altintas A, Sowden JC, Traboulsi E, Sarfarazi M, McInnes RR.

Nat Genet. 2000 Aug;25(4):397-401.

PMID:
10932181
[PubMed - indexed for MEDLINE]
18.

Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.

Jimenez NL, Flannick J, Yahyavi M, Li J, Bardakjian T, Tonkin L, Schneider A, Sherr EH, Slavotinek AM.

BMC Med Genet. 2011 Dec 28;12:172. doi: 10.1186/1471-2350-12-172.

PMID:
22204637
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Screening of LHX2 in patients presenting growth retardation with posterior pituitary and ocular abnormalities.

PĂ©rez C, Dastot-Le Moal F, Collot N, Legendre M, Abadie I, Bertrand AM, Amselem S, Sobrier ML.

Eur J Endocrinol. 2012 Jul;167(1):85-91. doi: 10.1530/EJE-12-0026. Epub 2012 Apr 24.

PMID:
22535646
[PubMed - indexed for MEDLINE]
Free Article
20.

The genetics of anophthalmia and microphthalmia.

Bardakjian TM, Schneider A.

Curr Opin Ophthalmol. 2011 Sep;22(5):309-13. doi: 10.1097/ICU.0b013e328349b004. Review.

PMID:
21825993
[PubMed - indexed for MEDLINE]

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