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المؤلفون: Kishan Sokhi, Jacqueline Ramsay, Tanya Bardakjian, Adele Schneider, Nursel Elcioglu, Raoul C.M. Hennekam, C. Nur Semerci, Ferda Ozkinay, Joe Rainger, David Sexton, Andrea Superti Furga, Anita Saponari, Lina Ramos, Ellen van Beusekom, Malcolm E. Fisher, Gabriele Gillessen-Kaesbach, Anita Wischmeijer, Ian J. Jackson, Sérgio B. Sousa, Hans van Bokhoven, Rainer Koenig, Lihadh Al-Gazali, Paul Perry, Peter Branney, Louise S. Bicknell, Harris Morrison, Livia Garavelli, Dagmar Wieczorek, André Mégarbané, Rosanna Pallotta, Han G. Brunner, Lisa McKie, Saemah Nuzhat Zafar, Philippe Gautier, Ayesha Khan, David R. FitzPatrick
المساهمون: ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Paediatrics, Ege Üniversitesi, Rainger, Joe, van Beusekom, Ellen, Ramsay, Jacqueline K., McKie, Lisa, Al-Gazali, Lihadh, Pallotta, Rosanna, Saponari, Anita, Branney, Peter, Fisher, Malcolm, Morrison, Harris, Bicknell, Louise, Gautier, Philippe, Perry, Paul, Sokhi, Kishan, Sexton, David, Bardakjian, Tanya M., Schneider, Adele S., Elcioglu, Nursel, Ozkinay, Ferda, Koenig, Rainer, Megarbane, Andre, Semerci, C. Nur, Khan, Ayesha, Zafar, Saemah, Hennekam, Raoul, Sousa, Sergio B., Ramos, Lina, Garavelli, Livia, Furga, Andrea Superti, Wischmeijer, Anita, Jackson, Ian J., Gillessen-Kaesbach, Gabriele, Brunner, Han G., Wieczorek, Dagmar, van Bokhoven, Hans, FitzPatrick, David R., Faculteit der Geneeskunde
المصدر: Rainger, J, van Beusekom, E, Ramsay, J K, McKie, L, Al-Gazali, L, Pallotta, R, Saponari, A, Branney, P, Fisher, M, Morrison, H, Bicknell, L, Gautier, P, Perry, P, Sokhi, K, Sexton, D, Bardakjian, T M, Schneider, A S, Elcioglu, N, Ozkinay, F, Koenig, R, Mégarbané, A, Semerci, C N, Khan, A, Zafar, S, Hennekam, R, Sousa, S B, Ramos, L, Garavelli, L, Furga, A S, Wischmeijer, A, Jackson, I J, Gillessen-Kaesbach, G, Brunner, H G, Wieczorek, D, van Bokhoven, H & Fitzpatrick, D R 2011, ' Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice ', PLoS Genetics, vol. 7, no. 7, e1002114 . https://doi.org/10.1371/journal.pgen.1002114
PLoS Genetics
PLoS Genetics, Vol 7, Iss 7, p e1002114 (2011)
Plos Genetics, 7, e1002114-e1002114
PLoS genetics, 7(7). Public Library of Science
PLOS Genetics, 7(7):e1002114. Public Library of Science
Plos Genetics, 7, 7, pp. e1002114-e1002114
Plos Genetics, vol. 7, no. 7, pp. e1002114مصطلحات موضوعية: ANOMALIES, DNA Mutational Analysis, PROTEIN, anophthalmia, gene targeting, Bone Morphogenetic Protein 1, hindlimb, Mice, Xenopus laevis, genetic linkage, BINDING, genetics, Waardenburg's Syndrome, Waardenburg Syndrome, clinical article, C57BL mouse, adult, Mus, microsatellite marker, DEFECTS, gene expression regulation, Disease gene identification, BMP1 protein, human, Pedigree, Medicine, down regulation, mutational analysis, drug antagonism, medicine.medical_specialty, SMOC1 protein, human, embryo, Bone morphogenetic protein, animal tissue, loss of function mutation, Smoc1 gene, Genetics, Humans, human, Biology, Molecular Biology, Waardenburg syndrome, mouse, Ecology, Evolution, Behavior and Systematics, MUTATIONS, animal model, Correction, SMOC-1 protein, mouse, school child, medicine.disease, Mice, Inbred C57BL, Human Reproduction [NCEBP 12], gene function, Endocrinology, decapentaplegic protein, Genetics and epigenetic pathways of disease Functional Neurogenomics [NCMLS 6], Mutation, Cancer Research, frameshift mutation, Medizin, nonsense mutation, Gene Expression, mouse mutant, Eye, Bmp1 protein, mouse, Autosomal Recessive, bone morphogenetic protein, Missense mutation, animal, Osteonectin, SPECIFICATION, Genetics (clinical), RECESSIVE ANOPHTHALMIA, limb, cleft palate, Mice, Knockout, child, Coloboma, ABNORMALITIES, messenger RNA, article, pedigree, female, Mammalia, Models, Animal, Drosophila, Research Article, gene locus, lcsh:QH426-470, Nonsense mutation, procollagen C proteinase, male, ddc:570, Internal medicine, medicine, Animalia, Animals, gene, SMOC 1 protein, mouse, gene identification, growth, development and aging, Clinical Genetics, Phenocopy, nonhuman, Anophthalmia, missense mutation, syndactyly, Anophthalmos, nucleotide sequence, Human Genetics, Extremities, infant, lcsh:Genetics, XENOPUS, CELL-DEATH, adolescent, Genetics of Disease, Syndactyly, homozygosity, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], metabolism, Animal Genetics
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