| scholarly article | Q13442814 |
| P50 | author | Veronica van Heyningen | Q7922481 |
| P2093 | author name string | Ming Ye | |
| Ordan J Lehmann | |||
| Andrew J Waskiewicz | |||
| Curtis R French | |||
| Mika Asai-Coakwell | |||
| Martin Somerville | |||
| Ron Koss | |||
| Karyn M Berry | |||
| Rosemary Mueller | |||
| P2860 | cites work | Eye and neural defects associated with loss of GDF6 | Q21284140 |
| Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies | Q22003761 | ||
| Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome | Q24290516 | ||
| The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome | Q24290819 | ||
| Mutations in a new member of the chromodomain gene family cause CHARGE syndrome | Q24300737 | ||
| Heterozygous mutations of OTX2 cause severe ocular malformations | Q24530768 | ||
| Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. | Q24531948 | ||
| Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma | Q24534513 | ||
| A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye | Q24535671 | ||
| Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation | Q24540535 | ||
| Ectopic induction of tendon and ligament in rats by growth and differentiation factors 5, 6, and 7, members of the TGF-beta gene family | Q24561584 | ||
| Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin | Q24611761 | ||
| Basic local alignment search tool | Q25938991 | ||
| Isolation of zebrafish gdf7 and comparative genetic mapping of genes belonging to the growth/differentiation factor 5, 6, 7 subgroup of the TGF-beta superfamily | Q28137609 | ||
| Xenopus GDF6, a new antagonist of noggin and a partner of BMPs | Q28138690 | ||
| Human microphthalmia associated with mutations in the retinal homeobox gene CHX10 | Q28142971 | ||
| Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes | Q28212192 | ||
| Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma | Q28214342 | ||
| Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamily | Q28251546 | ||
| The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25 | Q28273225 | ||
| Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development | Q28587111 | ||
| Genetic and phenotypic analysis of Tcm, a mutation affecting early eye development | Q28594664 | ||
| PipMaker--a web server for aligning two genomic DNA sequences | Q28776457 | ||
| Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases | Q33677807 | ||
| Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations | Q33722167 | ||
| Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination | Q34137518 | ||
| A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15. | Q34144412 | ||
| Mutations in SOX2 cause anophthalmia | Q34180637 | ||
| Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH. | Q34439696 | ||
| Maternal induction of ventral fate by zebrafish radar | Q34868942 | ||
| Ocular coloboma: a reassessment in the age of molecular neuroscience | Q35444452 | ||
| Iris coloboma and a microdeletion of chromosome 22: del(22)(q11.22). | Q35590187 | ||
| Karyotyping human chromosomes by combinatorial multi-fluor FISH. | Q38507389 | ||
| Zebrafish as a model organism for the identification and characterization of drugs and genes affecting p53 signaling | Q40616229 | ||
| Congenital eye malformations in 212,479 consecutive births. | Q41927410 | ||
| Defects in chicken neuroretina misexpressing the BMP antagonist Drm/Gremlin | Q46502068 | ||
| Radar is required for the establishment of vascular integrity in the zebrafish | Q47073258 | ||
| Eliminating zebrafish pbx proteins reveals a hindbrain ground state. | Q47073477 | ||
| Zebrafish hox genes: expression in the hindbrain region of wild-type and mutants of the segmentation gene, valentino. | Q48041265 | ||
| Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions. | Q48301269 | ||
| Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities | Q48964218 | ||
| Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. | Q51951452 | ||
| Physician-scientists are needed now more than ever. | Q55041789 | ||
| Interstitial deletion of 2q associated with craniosynostosis, ocular coloboma, and limb abnormalities: cytogenetic and molecular investigation | Q56381020 | ||
| Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease | Q57537928 | ||
| Hereditary microphthalmia with colobomatous cyst | Q68190306 | ||
| Unexpected familial recurrence of iris coloboma. A delayed mutation mechanism? | Q70887773 | ||
| Zebrafish Radar: a new member of the TGF-beta superfamily defines dorsal regions of the neural plate and the embryonic retina | Q72201867 | ||
| Genetic mapping of a mouse ocular malformation locus, Tcm, to chromosome 4 | Q73152894 | ||
| Colobomatous macrophthalmia with microcornea syndrome: report of a new pedigree | Q73758499 | ||
| Genetic mapping of a novel X-linked recessive colobomatous microphthalmia | Q73969586 | ||
| Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints | Q77215833 | ||
| Medical research: them and us no longer | Q82568713 | ||
| P433 | issue | 2 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | Growth differentiation factor 6a | Q29822049 |
| P304 | page(s) | 306-15 | |
| P577 | publication date | 2007-02-01 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | GDF6, a novel locus for a spectrum of ocular developmental anomalies | |
| P478 | volume | 80 |
| Q36948282 | A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation |
| Q36676827 | A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma |
| Q37114779 | An essential role for Radar (Gdf6a) in inducing dorsal fate in the zebrafish retina |
| Q36855990 | Antagonism between Gdf6a and retinoic acid pathways controls timing of retinal neurogenesis and growth of the eye in zebrafish |
| Q34540729 | Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma |
| Q34610204 | Association of rs6982567 near GDF6 with neovascular age-related macular degeneration and polypoidal choroidal vasculopathy in a Han Chinese cohort |
| Q50156576 | Bilateral chorioretinal coloboma discovered with ultra-wide field retinal imaging. |
| Q34512444 | Bone Morphogenetic Protein (BMP) signaling in development and human diseases |
| Q48184143 | Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies |
| Q42012280 | Canonical Wnt signaling is required for the maintenance of dorsal retinal identity |
| Q38517281 | Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma |
| Q45884269 | Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies |
| Q93578787 | Defining the Sequence Elements and Candidate Genes for the Mutation |
| Q28312171 | Expression profiling during ocular development identifies 2 Nlz genes with a critical role in optic fissure closure |
| Q42727250 | Extraocular ectoderm triggers dorsal retinal fate during optic vesicle evagination in zebrafish |
| Q35573283 | Eye development genes and known syndromes |
| Q45958654 | Gdf6a is required for the initiation of dorsal-ventral retinal patterning and lens development. |
| Q35032282 | Gene-specific differential response to anti-apoptotic therapies in zebrafish models of ocular coloboma. |
| Q39023010 | Genetic Advances in Microphthalmia |
| Q33744524 | Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies |
| Q89595747 | Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes |
| Q47248903 | Growth Differentiation Factor 6 Promotes Vascular Stability by Restraining Vascular Endothelial Growth Factor Signaling. |
| Q27321426 | Growth differentiation factor 6 as a putative risk factor in neuromuscular degeneration |
| Q42017644 | Growth differentiation factor 6 derived from mesenchymal stem/stromal cells reduces age-related functional deterioration in multiple tissues |
| Q58605954 | Hedgehog signaling regulates cell motility and optic fissure and stalk formation during vertebrate eye morphogenesis |
| Q35668755 | High temperature requirement factor A1 (HTRA1) gene regulates angiogenesis through transforming growth factor-β family member growth differentiation factor 6. |
| Q51821857 | Homozygosity mapping in an anophthalmic pedigree provides evidence of additional genetic heterogeneity. |
| Q41905621 | Identification of a distant cis-regulatory element controlling pharyngeal arch-specific expression of zebrafish gdf6a/radar |
| Q31068610 | Improving disease gene prioritization by comparing the semantic similarity of phenotypes in mice with those of human diseases |
| Q28306123 | Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes |
| Q38558467 | Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee |
| Q34128072 | Meis1 specifies positional information in the retina and tectum to organize the zebrafish visual system. |
| Q50420170 | Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye. |
| Q36380585 | Mouse Models for the Dissection of CHD7 Functions in Eye Development and the Molecular Basis for Ocular Defects in CHARGE Syndrome |
| Q24319044 | Mutation of SALL2 causes recessive ocular coloboma in humans and mice |
| Q24311933 | Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies |
| Q24650708 | Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma |
| Q28277217 | Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome |
| Q35125578 | Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts |
| Q41546947 | Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia. |
| Q39649368 | Pax2 regulates a fadd-dependent molecular switch that drives tissue fusion during eye development |
| Q33290989 | Pbx homeodomain proteins pattern both the zebrafish retina and tectum. |
| Q98184320 | Rare heterozygous GDF6 variants in patients with renal anomalies |
| Q24322076 | SMOC1 is essential for ocular and limb development in humans and mice |
| Q34999556 | Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies |
| Q90141136 | Sostdc1 is expressed in all major compartments of developing and adult mammalian eyes |
| Q33881175 | Sox11 is required to maintain proper levels of Hedgehog signaling during vertebrate ocular morphogenesis |
| Q34302263 | The BMP ligand Gdf6 prevents differentiation of coronal suture mesenchyme in early cranial development |
| Q39383518 | The hyaloid vasculature facilitates basement membrane breakdown during choroid fissure closure in the zebrafish eye. |
| Q38822858 | The zebrafish eye-a paradigm for investigating human ocular genetics. |
| Q35176354 | Toward a better understanding of human eye disease insights from the zebrafish, Danio rerio. |
| Q37271457 | Unveiling the bmp13 enigma: redundant morphogen or crucial regulator? |
| Q42575182 | What experimental embryology can teach us about the development of the extraocular muscles in anophthalmia: at the interface of basic and clinical sciences. |
| Q27312718 | gdf6a is required for cone photoreceptor subtype differentiation and for the actions of tbx2b in determining rod versus cone photoreceptor fate |
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