المؤلفون: Robert B. Hufnagel, Temesgen D. Fufa, Brian P. Brooks, David M. McGaughey, John M Bryan, Kapil Bharti

المصدر: Human Molecular Genetics. 27:3325-3339

مصطلحات موضوعية: 0301 basic medicine, genetic structures, Genomics, Retinal Pigment Epithelium, Computational biology, Biology, Eye, computer.software_genre, Retina, Cornea, Correlation, Mice, 03 medical and health sciences, 0302 clinical medicine, Gene expression, Genetics, medicine, Animals, Humans, Cluster analysis, Molecular Biology, Gene, Genetics (clinical), Retinal pigment epithelium, Choroid, High-Throughput Nucleotide Sequencing, General Medicine, Expression (mathematics), eye diseases, Workflow, 030104 developmental biology, medicine.anatomical_structure, Gene Expression Regulation, Organ Specificity, Gene Ontology Term Enrichment, Human eye, General Article, Data mining, sense organs, computer, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::495dd4e39774bf3e363d0b116ab2bf06Test
https://doi.org/10.1093/hmg/ddy239Test

المؤلفون: Andrew J. Waskiewicz, Joe Rainger, Souparnika H. Manjunath, Ramakrishna P. Alur, Christina Gerth-Kahlert, Erin Strachan, Sonya A. Widen, Anand Swaroop, Rinki Ratnapriya, Tiansen Li, Brian P. Brooks, James A B Floyd, Kathleen A. Williamson, Chunqiao Liu, Ordan J. Lehmann, Archana Balakrishnan, David R. FitzPatrick

المساهمون: University of Zurich, Swaroop, Anand

المصدر: Liu, C, Widen, S, Williamson, K, Ratnapriya, R, Gerth-Kahlert, C, Rainger, J, Alur, R, Strachan, E, Manjanath, S, Balakrishnan, A, Floyd, J, Li, T, Waskiewicz, A, Brooks, B, Lehmann, O J & FitzPatrick, D & Swaroop, A 2016, ' A Secreted WNT-Ligand Binding Domain of FZD5 Generated by a Frameshift Mutation Causes Autosomal Dominant Coloboma ', Human Molecular Genetics . https://doi.org/10.1093/hmg/ddw020Test

مصطلحات موضوعية: 10018 Ophthalmology Clinic, Male, 0301 basic medicine, 2716 Genetics (clinical), congenital, hereditary, and neonatal diseases and abnormalities, Frizzled, DNA Mutational Analysis, 610 Medicine & health, Biology, medicine.disease_cause, Microphthalmia, Frameshift mutation, Mice, 03 medical and health sciences, 1311 Genetics, Mutant protein, 1312 Molecular Biology, Genetics, medicine, Animals, Humans, Microphthalmos, Eye Abnormalities, Frameshift Mutation, Wnt Signaling Pathway, Molecular Biology, Zebrafish, Genetics (clinical), Coloboma, Mutation, Wnt signaling pathway, Articles, General Medicine, medicine.disease, Molecular biology, Frizzled Receptors, eye diseases, Pedigree, Transmembrane domain, 030104 developmental biology, Female, sense organs

وصف الملف: application/pdf; Hum. Mol. Genet.-2016-Liu-1382-91.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44515564fa3be962b61b689bcf073f1bTest
https://doi.org/10.1093/hmg/ddw020Test

المؤلفون: Ordan J. Lehmann, Matthew B. Dobbs, Michael R. Doschak, Periasamy Sundaresan, T. Michael Underhill, Arcady Mushegian, B. Chanda, Perumalsamy Vijayalakshmi, Guang Li, Andrew J. Waskiewicz, Karen Staehling-Hampton, Curtis R. French, Anoja Perera, Steven Bamforth, Olivier Pourquié, Yves Sauve, Karin Bigot, Marc Abitbol, Silvina C. Mema, Brian P. Brooks, Ming Ye, Veronica van Heyningen, Philip F. Giampietro, Mika Asai-Coakwell, Kamal Garcha

المصدر: Human Molecular Genetics. 18:1110-1121

مصطلحات موضوعية: DNA Mutational Analysis, Molecular Sequence Data, ved/biology.organism_classification_rank.species, Penetrance, Growth Differentiation Factor 6, Biology, Bone morphogenetic protein, Mice, Bardet–Biedl syndrome, Genes, Reporter, Genetics, medicine, Animals, Humans, Abnormalities, Multiple, Amino Acid Sequence, Model organism, Molecular Biology, Zebrafish, Genetics (clinical), ved/biology, Morphant, General Medicine, Oligonucleotides, Antisense, Zebrafish Proteins, medicine.disease, biology.organism_classification, Phenotype, GDF6, Models, Animal, Mutation, Mutant Proteins

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4922c239b6d1d6dc6641efc9e322c74cTest
https://doi.org/10.1093/hmg/ddp008Test

المؤلفون: Susan L. Dagenais, T. Myloyde, B. Kriederman, Thomas W. Glover, Margaret A. Rennels, Charles L. Witte, Robert P. Erickson, Michelle T. Lynch, Mark S Caulder, Michael Bernas, David A. Jackson, Brian P. Brooks, Naoyuki Miura, Marlys H. Witte

المصدر: Human Molecular Genetics. 12:1179-1185

مصطلحات موضوعية: Heterozygote, Pathology, medicine.medical_specialty, Mice, Genetics, medicine, Lymphatic vessel, Animals, Humans, Lymphedema, Molecular Biology, Lymph node, Genetics (clinical), Genes, Dominant, Eyelashes, Lymphatic Abnormalities, biology, Lymphedema–distichiasis syndrome, Forkhead Transcription Factors, Heterozygote advantage, General Medicine, Anatomy, medicine.disease, DNA-Binding Proteins, Disease Models, Animal, medicine.anatomical_structure, Lymphatic system, biology.protein, FOXC2, Haploinsufficiency, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb2e6d46e26e8bc8e8a177031f1f5c01Test
https://doi.org/10.1093/hmg/ddg123Test