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Items: 1 to 20 of 94

1.

OTX2 mutations contribute to the otocephaly-dysgnathia complex.

Chassaing N, Sorrentino S, Davis EE, Martin-Coignard D, Iacovelli A, Paznekas W, Webb BD, Faye-Petersen O, Encha-Razavi F, Lequeux L, Vigouroux A, Yesilyurt A, Boyadjiev SA, Kayserili H, Loget P, Carles D, Sergi C, Puvabanditsin S, Chen CP, Etchevers HC, Katsanis N, Mercer CL, Calvas P, Jabs EW.

J Med Genet. 2012 Jun;49(6):373-9. doi: 10.1136/jmedgenet-2012-100892. Epub 2012 May 10.

PMID:
22577225
2.

Agnathia-otocephaly complex: a case report and examination of the OTX2 and PRRX1 genes.

Herman S, Delio M, Morrow B, Samanich J.

Gene. 2012 Feb 15;494(1):124-9. doi: 10.1016/j.gene.2011.11.033. Epub 2011 Dec 14.

PMID:
22198066
3.

Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2.

Patat O, van Ravenswaaij-Arts CM, Tantau J, Corsten-Janssen N, van Tintelen JP, Dijkhuizen T, Kaplan J, Chassaing N.

Mol Syndromol. 2013 Sep;4(6):302-5. doi: 10.1159/000353727. Epub 2013 Jul 9.

4.

Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.

Sergouniotis PI, Urquhart JE, Williams SG, Bhaskar SS, Black GC, Lovell SC, Whitby DJ, Newman WG, Clayton-Smith J.

J Hum Genet. 2015 Apr;60(4):199-202. doi: 10.1038/jhg.2014.122. Epub 2015 Jan 15.

PMID:
25589041
5.

Genetic modifiers of otocephalic phenotypes in Otx2 heterozygous mutant mice.

Hide T, Hatakeyama J, Kimura-Yoshida C, Tian E, Takeda N, Ushio Y, Shiroishi T, Aizawa S, Matsuo I.

Development. 2002 Sep;129(18):4347-57.

6.

Prenatal diagnosis and molecular genetic studies on a new case of agnathia-otocephaly.

Kamnasaran D, Morin F, Gekas J.

Fetal Pediatr Pathol. 2010;29(4):207-11. doi: 10.3109/15513811003796946.

PMID:
20594144
7.

OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype.

Schilter KF, Schneider A, Bardakjian T, Soucy JF, Tyler RC, Reis LM, Semina EV.

Clin Genet. 2011 Feb;79(2):158-68. doi: 10.1111/j.1399-0004.2010.01450.x.

8.

Mouse Otx2 functions in the formation and patterning of rostral head.

Matsuo I, Kuratani S, Kimura C, Takeda N, Aizawa S.

Genes Dev. 1995 Nov 1;9(21):2646-58.

9.

Transmission of the dysgnathia complex from mother to daughter.

Erlich MS, Cunningham ML, Hudgins L.

Am J Med Genet. 2000 Nov 27;95(3):269-74.

PMID:
11102934
10.

OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium.

Vincent A, Forster N, Maynes JT, Paton TA, Billingsley G, Roslin NM, Ali A, Sutherland J, Wright T, Westall CA, Paterson AD, Marshall CR; FORGE Canada Consortium., Héon E.

J Med Genet. 2014 Dec;51(12):797-805. doi: 10.1136/jmedgenet-2014-102620. Epub 2014 Oct 7.

PMID:
25293953
11.

A Novel Mutation in OTX2 Causes Combined Pituitary Hormone Deficiency, Bilateral Microphthalmia, and Agenesis of the Left Internal Carotid Artery.

Shimada A, Takagi M, Nagashima Y, Miyai K, Hasegawa Y.

Horm Res Paediatr. 2016;86(1):62-9. doi: 10.1159/000446280. Epub 2016 Jun 15.

PMID:
27299576
12.

Heterozygous mutations of OTX2 cause severe ocular malformations.

Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, Clarke MP, Russell-Eggitt I, Fielder A, Gerrelli D, Martinez-Barbera JP, Ruddle P, Hurst J, Collin JR, Salt A, Cooper ST, Thompson PJ, Sisodiya SM, Williamson KA, Fitzpatrick DR, van Heyningen V, Hanson IM.

Am J Hum Genet. 2005 Jun;76(6):1008-22. Epub 2005 Apr 21. Erratum in: Am J Hum Genet. 2005 Aug;77(2):334.

13.

OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary.

Tajima T, Ohtake A, Hoshino M, Amemiya S, Sasaki N, Ishizu K, Fujieda K.

J Clin Endocrinol Metab. 2009 Jan;94(1):314-9. doi: 10.1210/jc.2008-1219. Epub 2008 Oct 14.

PMID:
18854396
14.

Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma.

Wyatt A, Bakrania P, Bunyan DJ, Osborne RJ, Crolla JA, Salt A, Ayuso C, Newbury-Ecob R, Abou-Rayyah Y, Collin JR, Robinson D, Ragge N.

Hum Mutat. 2008 Nov;29(11):E278-83. doi: 10.1002/humu.20869.

PMID:
18781617
15.

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
16.

Aprosencephaly with otocephaly in a lamb (Ovis aries).

Brachthäuser L, Klumpp S, Hecht W, Kuchelmeister K, Reinacher M, Ebbert W, Herden C.

Vet Pathol. 2012 Nov;49(6):1043-8. doi: 10.1177/0300985812439722. Epub 2012 Mar 19.

PMID:
22431914
17.

Recurrent agnathia-otocephaly caused by DNA replication slippage in PRRX1.

Dasouki M, Andrews B, Parimi P, Kamnasaran D.

Am J Med Genet A. 2013 Apr;161A(4):803-8. doi: 10.1002/ajmg.a.35879. Epub 2013 Feb 26.

PMID:
23444262
18.

Mandibular dysostosis without microphthalmia caused by OTX2 deletion.

Latypova X, Bordereau S, Bleriot A, Pichon O, Poulain D, Briand A, Le Caignec C, Isidor B.

Am J Med Genet A. 2016 Sep;170(9):2466-70. doi: 10.1002/ajmg.a.37837. Epub 2016 Jul 5.

PMID:
27378064
19.

An evolutionarily conserved kernel of gata5, gata6, otx2 and prdm1a operates in the formation of endoderm in zebrafish.

Tseng WF, Jang TH, Huang CB, Yuh CH.

Dev Biol. 2011 Sep 15;357(2):541-57. doi: 10.1016/j.ydbio.2011.06.040. Epub 2011 Jul 1.

20.

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.

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