| scholarly article | Q13442814 |
| P50 | author | Anne Slavotinek | Q57489648 |
| P2860 | cites work | A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI) | Q84244604 |
| Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases | Q84284285 | ||
| Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype | Q84991026 | ||
| Anophthalmia and microphthalmia | Q21202957 | ||
| Haploinsufficient Bmp4 ocular phenotypes include anterior segment dysgenesis with elevated intraocular pressure | Q21283801 | ||
| Eye and neural defects associated with loss of GDF6 | Q21284140 | ||
| 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 | Q22010621 | ||
| Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation | Q24295098 | ||
| Polycomb group and SCF ubiquitin ligases are found in a novel BCOR complex that is recruited to BCL6 targets | Q24301123 | ||
| Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination | Q24306605 | ||
| SIX2 and BMP4 mutations associate with anomalous kidney development | Q24318341 | ||
| SMOC1 is essential for ocular and limb development in humans and mice | Q24322076 | ||
| Heterozygous mutations of OTX2 cause severe ocular malformations | Q24530768 | ||
| A vertebrate gene related to orthodenticle contains a homeodomain of the bicoid class and demarcates anterior neuroectoderm in the gastrulating mouse embryo | Q24564561 | ||
| Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma | Q24650708 | ||
| A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency | Q24658065 | ||
| Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome | Q24672059 | ||
| GDF6, a novel locus for a spectrum of ocular developmental anomalies | Q24680270 | ||
| Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice | Q27339890 | ||
| Pairing SOX off: with partners in the regulation of embryonic development | Q28139502 | ||
| Human microphthalmia associated with mutations in the retinal homeobox gene CHX10 | Q28142971 | ||
| Polymicrogyria and absence of pineal gland due to PAX6 mutation | Q28202580 | ||
| The human PAX6 gene is mutated in two patients with aniridia | Q28207886 | ||
| PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects | Q28240060 | ||
| Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2 | Q28241289 | ||
| HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations? | Q28250459 | ||
| CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds | Q28272409 | ||
| Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome | Q28277217 | ||
| A membrane receptor for retinol binding protein mediates cellular uptake of vitamin A | Q28285192 | ||
| Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes | Q28306123 | ||
| Molecular dissection reveals decreased activity and not dominant negative effect in human OTX2 mutants | Q28306611 | ||
| Cytochrome c deficiency causes embryonic lethality and attenuates stress-induced apoptosis | Q28512752 | ||
| Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans | Q28586560 | ||
| SOX2 is a dose-dependent regulator of retinal neural progenitor competence | Q28592758 | ||
| De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies | Q33596991 | ||
| Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3. | Q33596996 | ||
| BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects | Q33677028 | ||
| Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies | Q33744524 | ||
| Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes | Q33821133 | ||
| PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans. | Q33953356 | ||
| Mutations in SOX2 cause anophthalmia | Q34180637 | ||
| Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea | Q34282029 | ||
| Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. | Q34303639 | ||
| Novel SOX2 partner-factor domain mutation in a four-generation family | Q34327268 | ||
| MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome | Q34346787 | ||
| Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome | Q34403361 | ||
| Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome | Q34458826 | ||
| OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype | Q34474376 | ||
| Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring | Q35108596 | ||
| BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome | Q35228402 | ||
| National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology | Q35438112 | ||
| Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6 | Q35788558 | ||
| Characterization of Bcor expression in mouse development | Q36029930 | ||
| SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions | Q36172165 | ||
| Molecular links among the causative genes for ocular malformation: Otx2 and Sox2 coregulate Rax expression | Q36535426 | ||
| Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways | Q36719098 | ||
| A practical guide to the management of anophthalmia and microphthalmia | Q36959894 | ||
| Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia. | Q37029266 | ||
| Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma | Q37066070 | ||
| Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip. | Q37156054 | ||
| Confirmation of RAX gene involvement in human anophthalmia. | Q37389881 | ||
| PAX6 aniridia and interhemispheric brain anomalies. | Q37395106 | ||
| The membrane receptor for plasma retinol-binding protein, a new type of cell-surface receptor | Q37533328 | ||
| Xenopus SMOC-1 Inhibits bone morphogenetic protein signaling downstream of receptor binding and is essential for postgastrulation development in Xenopus | Q38354490 | ||
| Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): a clue to the pathogenesis of oncocytic cardiomyopathy? | Q40593553 | ||
| Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy | Q43087850 | ||
| Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma | Q43529911 | ||
| Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia | Q43691780 | ||
| Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly | Q48058539 | ||
| A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency | Q48234928 | ||
| Survey for paired-like homeodomain gene expression in the hypothalamus: restricted expression patterns of Rx, Alx4 and goosecoid | Q48468933 | ||
| OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary | Q48881868 | ||
| Oculo-facio-cardio-dental (OFCD) syndrome. | Q50514765 | ||
| Congenital eye malformations: a descriptive epidemiologic study in about one million newborns in Italy. | Q50959223 | ||
| The descriptive epidemiology of anophthalmia and microphthalmia. | Q50991962 | ||
| Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome. | Q51738576 | ||
| Three cases of oculo-facio-cardio-dental (OFCD) syndrome. | Q51841652 | ||
| Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies. | Q51909603 | ||
| Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations--what are the minimal criteria? | Q51924256 | ||
| Vitamin A deficiency in an infant with PAGOD syndrome. | Q51926106 | ||
| Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. | Q51951452 | ||
| Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies. | Q52012746 | ||
| SOX2 anophthalmia syndrome. | Q52053221 | ||
| Association of anophthalmia and esophageal atresia: four new cases identified by the anophthalmia/microphthalmia clinical registry. | Q52085238 | ||
| Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia. | Q52088526 | ||
| Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration. | Q55051472 | ||
| Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. | Q55257548 | ||
| Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters. | Q55434221 | ||
| Recurrence ofSOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother | Q57273778 | ||
| Heterozygous deletion at 14q22.1-q22.3 including the BMP4 gene in a patient with psychomotor retardation, congenital corneal opacity and feet polysyndactyly | Q57922813 | ||
| Absence ofSIX6Mutations in Microphthalmia, Anophthalmia, and Coloboma | Q59383563 | ||
| A locus for ophthalmo-acromelic syndrome mapped to 10p11.23 | Q59697659 | ||
| Phenotypic Variation in Ophthalmic Manifestations of MIDAS Syndrome(Microphthalmia, Dermal Aplasia, and Sclerocornea) | Q60431557 | ||
| A targeted mouse Otx2 mutation leads to severe defects in gastrulation and formation of axial mesoderm and to deletion of rostral brain | Q70910667 | ||
| Oculo-facio-cardio-dental (OFCD) syndrome | Q74698887 | ||
| Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement | Q79548490 | ||
| Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes | Q80067263 | ||
| Novel SOX2 mutation associated with ocular coloboma in a Chinese family | Q81262743 | ||
| Case reports of oculofaciocardiodental syndrome with unusual dental findings | Q81853727 | ||
| Descriptive epidemiology of anophthalmia and microphthalmia, Hawaii, 1986-2001 | Q82650155 | ||
| P433 | issue | 4 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 448-456 | |
| P577 | publication date | 2011-09-29 | |
| P1433 | published in | Molecular Genetics and Metabolism | Q6895949 |
| P1476 | title | Eye development genes and known syndromes | |
| P478 | volume | 104 |
| Q41595659 | A Novel Missense Mutation in the ALDH13 Gene Causes Anophthalmia in Two Unrelated Iranian Consanguineous Families |
| Q35070761 | A large novel deletion downstream of PAX6 gene in a Chinese family with ocular coloboma |
| Q37535775 | A new genome scan for primary nonsyndromic vesicoureteric reflux emphasizes high genetic heterogeneity and shows linkage and association with various genes already implicated in urinary tract development. |
| Q47562334 | A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies |
| Q37045101 | ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm |
| Q36595128 | ALDH1A3 mutations cause recessive anophthalmia and microphthalmia |
| Q92267114 | Anophthalmia including next-generation sequencing-based approaches |
| Q38617714 | Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23 |
| Q92380896 | CUGC for syndromic microphthalmia including next-generation sequencing-based approaches |
| Q52138689 | Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia. |
| Q57658606 | Cryptic 7q36.2q36.3 deletion causes multiple congenital eye anomalies and craniofacial dysmorphism |
| Q35674974 | Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects |
| Q39023010 | Genetic Advances in Microphthalmia |
| Q58095416 | Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia |
| Q92568068 | Growth and Behavior of Congenitally Anophthalmic Lee-Sung Pigs |
| Q37576577 | INPP5E regulates phosphoinositide-dependent cilia transition zone function. |
| Q28943257 | Identification of a candidate gene for astigmatism |
| Q91289717 | Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing |
| Q36110762 | Interpreting transcriptional changes using causal graphs: new methods and their practical utility on public networks |
| Q28512269 | Liver retinol transporter and receptor for serum retinol-binding protein (RBP4) |
| Q38314879 | Loss of Otx2 in the adult retina disrupts retinal pigment epithelium function, causing photoreceptor degeneration |
| Q42777312 | Modeling Glaucoma: Retinal Ganglion Cells Generated from Induced Pluripotent Stem Cells of Patients with SIX6 Risk Allele Show Developmental Abnormalities. |
| Q26765017 | Modeling congenital disease and inborn errors of development in Drosophila melanogaster |
| Q30666704 | Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. |
| Q54305691 | Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia. |
| Q45412114 | Mutations in ALDH1A3 cause microphthalmia. |
| Q44892592 | Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families. |
| Q55351376 | Nanophthalmos: A Review of the Clinical Spectrum and Genetics. |
| Q49723099 | New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies. |
| Q37058029 | Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma |
| Q34425375 | Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis |
| Q48147898 | Ocular findings in a patient with oculofaciocardiodental (OFCD) syndrome and a novel BCOR pathogenic variant. |
| Q47100462 | Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns. |
| Q34600359 | Quantitative genetic analysis of retinal degeneration in the blind cavefish Astyanax mexicanus |
| Q36051688 | RAX and anophthalmia in humans: evidence of brain anomalies |
| Q35819298 | Restoration of mesenchymal retinal pigmented epithelial cells by TGFβ pathway inhibitors: implications for age-related macular degeneration |
| Q54285959 | Role of secreted modular calcium-binding protein 1 (SMOC1) in transforming growth factor β signalling and angiogenesis. |
| Q34211826 | STRA6 is critical for cellular vitamin A uptake and homeostasis |
| Q26796608 | STRA6: role in cellular retinol uptake and efflux |
| Q36675879 | Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing |
| Q36756758 | Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network |
| Q92642653 | The Molecular Basis of Human Anophthalmia and Microphthalmia |
| Q63722685 | The hedgehog pathway and ocular developmental anomalies |
| Q48828211 | Tissue growth constrained by extracellular matrix drives invagination during optic cup morphogenesis |
| Q46021860 | Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia. |
| Q41490178 | Unraveling the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis: expanding the phenotypic variability of RAX mutations. |
| Q56636922 | Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3 |
| Q39442677 | Vitamin A, endocrine tissues and hormones: interplay and interactions |
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