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Results: 1 to 20 of 560

1.

Anophthalmia-plus syndrome with unusual findings. A clinical report and review of the literature.

Cayir A, Tasdemir S, Eroz R, Yuce I, Orbak Z, Tatar A.

Genet Couns. 2013;24(3):307-12. Review.

PMID:
24341146
[PubMed - indexed for MEDLINE]
2.

The multifunctional protein fused in sarcoma (FUS) is a coactivator of microphthalmia-associated transcription factor (MITF).

Bronisz A, Carey HA, Godlewski J, Sif S, Ostrowski MC, Sharma SM.

J Biol Chem. 2014 Jan 3;289(1):326-34. doi: 10.1074/jbc.M113.493874. Epub 2013 Nov 20.

PMID:
24257758
[PubMed - indexed for MEDLINE]
3.

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 25;534(2):282-5. doi: 10.1016/j.gene.2013.10.043. Epub 2013 Nov 6.

PMID:
24211324
[PubMed - indexed for MEDLINE]
4.

Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum.

Skalicky SE, White AJ, Grigg JR, Martin F, Smith J, Jones M, Donaldson C, Smith JE, Flaherty M, Jamieson RV.

JAMA Ophthalmol. 2013 Dec;131(12):1517-24. doi: 10.1001/jamaophthalmol.2013.5305.

PMID:
24177921
[PubMed - indexed for MEDLINE]
5.

Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

Srour M, Chitayat D, Caron V, Chassaing N, Bitoun P, Patry L, Cordier MP, Capo-Chichi JM, Francannet C, Calvas P, Ragge N, Dobrzeniecka S, Hamdan FF, Rouleau GA, Tremblay A, Michaud JL.

Am J Hum Genet. 2013 Oct 3;93(4):765-72. doi: 10.1016/j.ajhg.2013.08.014. Epub 2013 Sep 26. Erratum in: Am J Hum Genet. 2013 Nov 7;93(5):994.

PMID:
24075189
[PubMed - indexed for MEDLINE]
Free PMC Article
6.
7.
8.

Familial acorea, microphthalmia and cataract syndrome.

Kondo H, Tahira T, Yamamoto K, Tawara A.

Br J Ophthalmol. 2013 Sep;97(9):1155-60. doi: 10.1136/bjophthalmol-2013-303165. Epub 2013 Jul 5.

PMID:
23832966
[PubMed - indexed for MEDLINE]
9.

Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene.

Said MB, Chouchène E, Salem SB, Daoud K, Largueche L, Bouassida W, Benzina Z, Ayadi H, Söderkvist P, Matri L, Hmani-Aifa M.

Gene. 2013 Oct 10;528(2):288-94. doi: 10.1016/j.gene.2013.06.045. Epub 2013 Jun 29.

PMID:
23820083
[PubMed - indexed for MEDLINE]
10.

Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.

Suzumori N, Kaname T, Muramatsu Y, Yanagi K, Kumagai K, Mizuno S, Naritomi K, Saitoh S, Sugiura-Ogasawara M.

J Obstet Gynaecol Res. 2013 Nov;39(11):1545-7. doi: 10.1111/jog.12081. Epub 2013 Jul 2.

PMID:
23815237
[PubMed - indexed for MEDLINE]
11.

Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies.

Kondo Y, Koshimizu E, Megarbane A, Hamanoue H, Okada I, Nishiyama K, Kodera H, Miyatake S, Tsurusaki Y, Nakashima M, Doi H, Miyake N, Saitsu H, Matsumoto N.

Am J Med Genet A. 2013 Jul;161A(7):1543-6. doi: 10.1002/ajmg.a.35983. Epub 2013 May 23.

PMID:
23703728
[PubMed - indexed for MEDLINE]
12.

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]
13.

Mutations in ALDH1A3 cause microphthalmia.

Aldahmesh MA, Khan AO, Hijazi H, Alkuraya FS.

Clin Genet. 2013 Aug;84(2):128-31. doi: 10.1111/cge.12184. Epub 2013 May 27.

PMID:
23646827
[PubMed - indexed for MEDLINE]
14.

ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.

Yahyavi M, Abouzeid H, Gawdat G, de Preux AS, Xiao T, Bardakjian T, Schneider A, Choi A, Jorgenson E, Baier H, El Sada M, Schorderet DF, Slavotinek AM.

Hum Mol Genet. 2013 Aug 15;22(16):3250-8. doi: 10.1093/hmg/ddt179. Epub 2013 Apr 15.

PMID:
23591992
[PubMed - indexed for MEDLINE]
15.

Aplasia cutis congenita of the scalp in a female infant with anophthalmia/microphthalmia-esophageal atresia syndrome negative for SOX2 mutation.

Corona-Rivera JR, Zenteno JC, Pelcastre-Luna E, Miguel-Jiménez K, Aguirre-Guillén RL, Cabral-Macías J, Peña-Padilla C, Bobadilla-Morales L, Corona-Rivera A.

Am J Med Genet A. 2013 May;161A(5):1189-93. doi: 10.1002/ajmg.a.35854. Epub 2013 Mar 5. No abstract available.

PMID:
23463581
[PubMed - indexed for MEDLINE]
16.

Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia.

Zahrani F, Aldahmesh MA, Alshammari MJ, Al-Hazzaa SA, Alkuraya FS.

Am J Hum Genet. 2013 Mar 7;92(3):387-91. doi: 10.1016/j.ajhg.2013.01.008. Epub 2013 Feb 28.

PMID:
23453665
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Antenatal identification of isolated anophthalmia.

Giacobbe A, Grasso R, Mancuso A, Zona G, Triolo O, Longo M, Granata F.

J Obstet Gynaecol. 2013 Feb;33(2):199-200. doi: 10.3109/01443615.2012.727046. No abstract available.

PMID:
23445150
[PubMed - indexed for MEDLINE]
18.

Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome.

Vergult S, Leroy B, Claerhout I, Menten B.

Mol Vis. 2013;19:311-8. Epub 2013 Feb 6.

PMID:
23401659
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Translocation renal cell carcinomas: an evolving entity and a member of the microphthalmia transcription factor-associated family of tumors.

Bambury RM, Battley JE, McCarthy A, Brady C, O'Reilly S, Kelly PJ, O'Brien F, Sweeney P, Fleming S, Mayer NJ, Power DG.

Clin Genitourin Cancer. 2013 Sep;11(3):357-61. doi: 10.1016/j.clgc.2012.12.006. Epub 2013 Jan 16. No abstract available.

PMID:
23332637
[PubMed - indexed for MEDLINE]
20.

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.

Fares-Taie L, Gerber S, Chassaing N, Clayton-Smith J, Hanein S, Silva E, Serey M, Serre V, Gérard X, Baumann C, Plessis G, Demeer B, Brétillon L, Bole C, Nitschke P, Munnich A, Lyonnet S, Calvas P, Kaplan J, Ragge N, Rozet JM.

Am J Hum Genet. 2013 Feb 7;92(2):265-70. doi: 10.1016/j.ajhg.2012.12.003. Epub 2013 Jan 9.

PMID:
23312594
[PubMed - indexed for MEDLINE]
Free PMC Article

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