| 1 | First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the STRA6 phenotype. (21901792) | Casey J.... Ennis S. | 2011 | STRA6 |
| 2 | Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome. (21194680) | Abouzeid H.... Schorderet D.F. | 2011 | SMOC1 |
| 3 | Mutations in the LHX2 gene are not a frequent cause o f micro/anophthalmia. (21203406) | Desmaison A.... Chassaing N. | 2010 | LHX2 |
| 4 | A novel loss-of-function mutation in OTX2 in a patien t with anophthalmia and isolated growth hormone deficiency. (20396904) | Ashkenazi-Hoffnung L.... Gat-Yablonski G. | 2010 | OTX2, LHX4, HESX1 |
| 5 | Mutational screening of CHX10, GDF6, OTX2, RAX and SO X2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum ca ses. (20494911) | Gonzalez-Rodriguez J.... Zenteno J.C. | 2010 | OTX2, SOX2, RAX |
| 6 | Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma. (19158959) | London N.J.... Traboulsi E.I. | 2009 | RAX |
| 7 | Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia. (19309693) | Chassaing N.... Calvas P. | 2009 | STRA6 |
| 8 | OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary. (18854396) | Tajima T.... Fujieda K. | 2009 | OTX2, HESX1 |
| 9 | Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration. (19213032) | West B.... Slavotinek A.M. | 2009 | STRA6 |
| 10 | Novel SOX2 mutations and genotype-phenotype correlati on in anophthalmia and microphthalmia. (19921648) | Schneider A.... Semina E.V. | 2009 | SOX2 |
| 11 | Mutations in the newly identified RAX regulatory sequ ence are not a frequent cause of micro/anophthalmia. (19397404) | Chassaing N.... Calvas P. | 2009 | OTX2, RAX, VSX2 |
| 12 | Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma. (18781617) | Wyatt A.... Ragge N. | 2008 | OTX2 |
| 13 | Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. (18385794) | Zhou J.... Young T.L. | 2008 | SOX2, VSX2 |
| 14 | Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters. (18831064) | Schneider A.... Young T.L. | 2008 | SOX2 |
| 15 | OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters. (18628516) | Dateki S.... Ogata T. | 2008 | INS, POU1F1, HESX1 |
| 16 | Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia. (19112531) | White T.... Young T.L. | 2008 | SKI, STRA6 |
| 17 | SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. (17522144) | Bakrania P.... Ragge N.K. | 2007 | SOX2 |
| 18 | Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar. (17661825) | Faiyaz-Ul-Haque M.... Teebi A.S. | 2007 | VSX2 |
| 19 | Anophthalmia and microphthalmia. (18039390) | Verma A.S.... FitzPatrick D.R. | 2007 | OTX2, SOX2, VSX2 |
| 20 | Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. (17273977) | Pasutto F.... Rauch A. | 2007 | STRA6 |
| 21 | Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies. (16835935) | Nolen L.D.... Jamieson R.V. | 2006 | OTX2 |
| 22 | Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes. (16892407) | Zenteno J.C.... Aguinaga M. | 2006 | SOX2 |
| 23 | Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene. (16283891) | Zenteno J.C.... Tovilla-Canales J.L. | 2005 | SOX2 |
| 24 | Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma. (15505031) | Aijaz S.... Hanson I. | 2004 | SIX6 |
| 25 | Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. (14662654) | Voronina V.A.... Mathers P.H. | 2004 | RAX |
| 26 | Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2. (15503273) | Guichet A.... Bonneau D. | 2004 | SOX2 |
| 27 | Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia. (15266624) | Gallardo M.E.... Bovolenta P. | 2004 | SIX6 |
| 28 | CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. (15257456) | Bar-Yosef U.... Birk O.S. | 2004 | EYA1, EYA2, EYA3 |
| 29 | Mutations in SOX2 cause anophthalmia. (12612584) | Fantes J.... FitzPatrick D.R. | 2003 | SOX2, SOX2-OT |
| 30 | A case of growth hormone and gonadotropin deficiency associated with unilateral anophthalmia, microphallus, cryptorchidism, and mental retardation. (12008745) | Miyako K.... Hara T. | 2002 | SOD1, HESX1 |
| 31 | Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder? (12116202) | Ng D.... Biesecker L.G. | 2002 | BCOR |
| 32 | National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. (11826019) | Morrison D.... Campbell H. | 2002 | PAX6, SIX3, VSX2 |
| 33 | Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies. (10512683) | Gallardo M.E.... Rodriguez de Cordoba S. | 1999 | SIX3, SIX6, SIX4 |
| 34 | PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. (7951315) | Glaser T.... Maas R.L. | 1994 | PAX6 |
| 35 | Anophthalmia / Microph thalmia Overview (20301552) | Bardakjian T.... Schneider A.S. | 1993 | BMP4, PAX6, PAX2 |
| 36 | Hypogonadotropic hypogonadism in mentally retarded ad ults with microphthalmia and clinical anophthalmia. (2363423) | Keppen L.D.... Poindexter A.R. | 1990 | PRL |
