المؤلفون: Y.J. Kim (4983341), Y. Lee (1439653), Y. Kasimoglu (4983338), F. Seymen (4983344), J.P. Simmer (4983359), J.C.-C. Hu (8382828), E.-S. Cho (10883539), J.-W. Kim (6382118)

مصطلحات موضوعية: Dentistry not elsewhere classified, Materials Engineering not elsewhere classified, hereditary, de novo mutation, enamel, acid phosphatase 4, dimerization, compound heterozygous mutation

Relation: https://figshare.com/articles/journal_contribution/sj-pdf-1-jdr-10_1177_00220345211015119_Supplemental_material_for_Recessive_Mutations_in_ACP4_Cause_Amelogenesis_Imperfecta/14686639

الاتاحة: https://doi.org/10.25384/sage.14686639.v1

المؤلفون: M. Koruyucu, J. Kang, Y.J. Kim, F. Seymen, Y. Kasimoglu, Z.H. Lee, T.J. Shin, H.K. Hyun, S.H. Lee, J.C.C. Hu, J.P. Simmer, J.W. Kim

المصدر: Journal of Dental Research. 97:1064-1069

مصطلحات موضوعية: 0301 basic medicine, Proband, Turkey, Amelogenesis Imperfecta, Nonsense mutation, 030105 genetics & heredity, Biology, medicine.disease_cause, Polymerase Chain Reaction, Consanguinity, Young Adult, 03 medical and health sciences, stomatognathic system, Exome Sequencing, medicine, Humans, Amelogenesis imperfecta, Child, General Dentistry, Exome sequencing, Genetics, Extracellular Matrix Proteins, Mutation, Genetic disorder, Research Reports, medicine.disease, Penetrance, Pedigree, stomatognathic diseases, Phenotype, Female, ENAM

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1de20f02c38712d68e239d584d3548b0
https://doi.org/10.1177/0022034518763152

المؤلفون: S.K. Wang, H. Zhang, C.Y. Hu, J.F. Liu, S. Chadha, J.W. Kim, J.P. Simmer, J.C.C. Hu

مصطلحات موضوعية: 110599 Dentistry not elsewhere classified, FOS: Materials engineering, FOS: Clinical medicine, 91299 Materials Engineering not elsewhere classified

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57eb382395ca827fbf32d99bd9528073

المؤلفون: Y.J. Kim, J. Kang, F. Seymen, M. Koruyucu, H. Zhang, Y. Kasimoglu, M. Bayram, E.B. Tuna-Ince, S. Bayrak, N. Tuloglu, J.C.-C. Hu, J.P. Simmer, J.-W. Kim

مصطلحات موضوعية: 110599 Dentistry not elsewhere classified, FOS: Materials engineering, FOS: Clinical medicine, 91299 Materials Engineering not elsewhere classified

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::888e857d0fa627e87fd5740e8ec25e26

المؤلفون: H. Zhang, M. Koruyucu, F. Seymen, Y. Kasimoglu, J.-W. Kim, S. Tinawi, C. Zhang, M.L. Jacquemont, A.R. Vieira, J.P. Simmer, J.C.C. Hu

مصطلحات موضوعية: 110599 Dentistry not elsewhere classified, FOS: Materials engineering, FOS: Clinical medicine, 91299 Materials Engineering not elsewhere classified

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ff3aecf412080309d715eb3e6ed1712

المؤلفون: M. Koruyucu, J. Kang, Y.J. Kim, F. Seymen, Y. Kasimoglu, Z.H. Lee, T.J. Shin, H.K. Hyun, S.H. Lee, J.C.C. Hu, J.P. Simmer, J.W. Kim

مصطلحات موضوعية: 110599 Dentistry not elsewhere classified, FOS: Materials engineering, FOS: Clinical medicine, 91299 Materials Engineering not elsewhere classified

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88ae31702b2e426396cda0a56c6b0fcc

المؤلفون: D. Quincey, Y.-O. Kim, N. Sato, T. Leeb, L.J. Conner, A. Veronese, H. Satoh, C.G. Jakobsen, L. Martins, S.E. Hayes, E. Gentile, Manfred Gessler, F. Hosoda, M. Kinebuchi, C. Lemercier, O. Marcu, K. Hoehn, S.-Y. Park, T. Hardt, G. Barbanti-Brodano, F. Yang, Mariano Rocchi, Masanori Hatakeyama, T. Torii, T. Kitamura, N. Serakıncı, W. Mann, S. Osborne Lawrence, B. Brenig, D.G. Stathakis, H.-J. Koh, E. Verdin, Y. Franke, Masaki Okano, G. Pottier, K. Amimoto, Grant C. Sellar, N. Spieker, P.A. Martin-DeLeon, A. Strub, E. Li, M.-D. Devignes, X. Reveles, C. Roussakis, P. Grossfeld, N. Miyasaka, L.F.M. van Zutphen, S.A.N. Goldstein, M. Lepke, A. Tunnacliffe, G.N. Hendy, N.A. Manjunath, X. Deng, K. Georgas, U. Mahlknecht, K. Kikuchi, U. Sohn, A. Fogli, P.J. Yarowsky, P.C.M. O’Brien, W. Van Hul, T. Kozaki, L. Burridge, W. Wuyts, D. Masson, S. Forbes, J.P. Murnane, J. Stamberg, L. Viggiano, R. Favier, H. Kawakami, N. Katsanis, Matthew Breen, L.E. Stramm, L. Reid, P. Lustenberger, H.-H. Ropers, M. Athanasiou, S. Grimmond, K. Smith, M. Schmid, J.-Å. Gustafsson, D.S. Gerhard, J. Cruces, H. Narimatsu, J.L. Marsh, C-C. Hu, S. Katabami, Katsuzumi Okumura, L.A. Rethy, Y.-J. Kang, C.N. Sprung, B. Zabel, V. Bhide, P. Taschner, M. Trubia, S.-H. Kim, T. Haaf, Teijiro Aso, P.G. Gallagher, Marcel M.A.M. Mannens, T. Shiina, P.A. Ioannou, E. Schuuring, M.A. Ferguson-Smith, K. Yamada, R.J. Peoples, H. Inoko, D. Hoelzer, Y.-K. Wang, S. Stilgenbauer, R. Carrozzo, W. Rens, J. Harris, K. Yuri, E. Karayianni, A. De Paepe, T. Taguchi, H. Iwasaki, K. Krejčí, D. Carbonnelle, M. Hattori, L.A. Pérez Jurado, G. Gaudray, M.C. Yoshida, J. Justesen, G.F. Carle, I. Nanda, H.C. Au, M. Zollo, Veronica van Heyningen, J.T. Mascarello, R. Bucala, S.-H. Park, L.L. Hansen, S. Takai, Y. Shi, T. Kudo, M. Ohki, S. Raynaud, T. Watanabe, C. Turc-Carel, C.L. Pin, R. Korstanje, G. Chenevix-Trench, T. Miyachi, N. Van Roy, D.H. Spathas, C. Jacquot, M. Kaneko, C. Talbot, C. Magnanini, F.A. Ponce de León, Rogier Versteeg, Barbara R. DuPont, Glen A. Evans, R. Koike, R. Taramelli, H.-Z. Chen, N.A. Jenkins, C. Morelli, Shin-ichiro Takebayashi, Franki Speleman, P. Zisimopoulou, H. Hummerich, G.P. Holmes, A. Matsuura, H.A. van Lith, V. Orphanos, T. Kuramoto, P. Gaudray, T.K. Watanabe, T. Iizuka, D.J. Gilbert, S. Nakamura, F. Grummt, I.E. Scheffler, A.A. Bosma, M. Tixier-Boichard, C. Berger, C. Desmaze, H. Maruyama, Melissa H. Little, C. Alberti, F. Parente, G. Arrigo, K. De Boulle, N.G. Copeland, M. Selkirk, T. Mattina, M. Rosati, L. Sabatier, A. Calender, S.F. Konieczny, S. Sabbioni, Jet Bliek, M. James, M. Gordon, S. Giglio, Peter Little, T. Liehr, L. Canaff, N. Saitou, P.J. Willems, M.G. Denis, G.M. Maniatis, Nicoletta Archidiacono, L.V. Debelenko, O. Zuffardi, J.P. Simmer, J.J. Bitgood, K. Ladjali-Mohammedi, T. Thangarajah, B. Gawin, H. Himmelbauer, C. Lo Nigro, U. Francke, T.-L. Huh, M. Horie, C.M. Croce, J. Strovel, C. Staib, P. Bray-Ward, G. Weber, J. Koch, K. Kitada, Giovanna Grimaldi, J. Kalla, T. Serikawa, M. Negrini

المصدر: Cytogenetic and Genome Research. 86:340-342

مصطلحات موضوعية: Botany, Genetics, Biology, Molecular Biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9c46f621c5834b52a226e5239082141a
https://doi.org/10.1159/000015334

المؤلفون: Siew Ging Gong, J.C.-C. Hu, Jung Wook Kim, J.P. Simmer, M.L. Beattie, C.A. Murdoch-Kinch

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Dentinogenesis imperfecta, Genetic Linkage, Sialoglycoproteins, DNA Mutational Analysis, Dentistry, Biology, Severity of Illness Index, Article, 03 medical and health sciences, 0302 clinical medicine, Dentin sialophosphoprotein, stomatognathic system, Dentinogenesis Imperfecta, medicine, Dentin, Humans, General Dentistry, Aged, Glycoproteins, Extracellular Matrix Proteins, Dentition, business.industry, Dentin dysplasia, 030206 dentistry, Middle Aged, medicine.disease, Phosphoproteins, DMP1, Pedigree, Dentition, Permanent, stomatognathic diseases, Dentin Dysplasia, 030104 developmental biology, medicine.anatomical_structure, Phenotype, MEPE, Pulp (tooth), Female, Chromosomes, Human, Pair 4, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8083ea47f073fe286ec8074861ea84c6
https://europepmc.org/articles/PMC2238637/

المؤلفون: K. Smith, T. Shiina, E. Karayianni, N. Katsanis, C-C. Hu, D. Quincey, W. Wuyts, Giovanna Grimaldi, C. Alberti, M. Kaneko, L. Viggiano, D.S. Gerhard, Jet Bliek, M. Hatakeyama, M. Athanasiou, J. Cruces, R. Carrozzo, Rogier Versteeg, Barbara R. DuPont, P. Lustenberger, Manfred Gessler, X. Reveles, D.G. Stathakis, T. Taguchi, Y.-O. Kim, G. Arrigo, K. Hoehn, N. Sato, E. Gentile, J. Strovel, S. Grimmond, K. Okumura, R. Koike, Y. Franke, T. Leeb, L.J. Conner, A. Veronese, M. James, H. Satoh, H. Narimatsu, F. Yang, R. Taramelli, V. Bhide, N.G. Copeland, P. Taschner, H. Kawakami, C. Staib, W. Mann, E. Schuuring, S. Osborne Lawrence, H. Inoko, J. Kalla, I. Nanda, T. Torii, K. Georgas, P.A. Ioannou, P.G. Gallagher, A. Fogli, P.J. Yarowsky, T. Aso, C.G. Jakobsen, T. Serikawa, M. Negrini, K. Amimoto, F. Grummt, T. Kitamura, C. Lemercier, S.F. Konieczny, U. Mahlknecht, N. Spieker, J.L. Marsh, Y.-J. Kang, T. Haaf, G.M. Maniatis, K. Yamada, K. De Boulle, T. Kozaki, L. Burridge, S. Nakamura, U. Sohn, G. Pottier, L. Martins, A.A. Bosma, Nicoletta Archidiacono, T. Hardt, L. Reid, M. Rosati, G. Barbanti-Brodano, J. Stamberg, Grant C. Sellar, C. Desmaze, G.N. Hendy, H. Maruyama, L.V. Debelenko, I.E. Scheffler, H.C. Au, E. Verdin, O. Marcu, C. Roussakis, D. Hoelzer, M. Zollo, A. Strub, E. Li, K. Kikuchi, S.-H. Kim, D. Carbonnelle, B. Zabel, P. Grossfeld, P.C.M. O’Brien, W. Van Hul, T. Kudo, N.A. Jenkins, L.A. Pérez Jurado, F. Parente, S.E. Hayes, F. Hosoda, R.J. Peoples, M. Hattori, A. Tunnacliffe, O. Zuffardi, M. Gordon, S. Giglio, J. Harris, N.A. Manjunath, C.L. Pin, R. Korstanje, Peter Little, K. Yuri, A. De Paepe, G. Chenevix-Trench, H.-H. Ropers, J.P. Simmer, J.J. Bitgood, A. Calender, C. Lo Nigro, J.T. Mascarello, C.N. Sprung, M. Ohki, Mariano Rocchi, M.C. Yoshida, J. Justesen, T. Liehr, T. Miyachi, S. Takai, G.F. Carle, K. Ladjali-Mohammedi, T. Thangarajah, L. Canaff, Marcel M.A.M. Mannens, M. Tixier-Boichard, N. Saitou, M. Selkirk, C. Turc-Carel, M. Horie, C.M. Croce, C. Berger, M. Lepke, S. Forbes, B. Gawin, H. Himmelbauer, M.A. Ferguson-Smith, T. Iizuka, Glen A. Evans, N. Van Roy, Melissa H. Little, Y.-K. Wang, M. Kinebuchi, P.J. Willems, M.G. Denis, T. Mattina, H.-Z. Chen, U. Francke, S.-H. Park, T.-L. Huh, L.F.M. van Zutphen, B. Brenig, M. Okano, P.A. Martin-DeLeon, M.-D. Devignes, N. Miyasaka, S.-Y. Park, Matthew Breen, H.-J. Koh, X. Deng, H.A. van Lith, L. Sabatier, T. Kuramoto, M. Schmid, C. Talbot, C. Magnanini, S. Sabbioni, J.P. Murnane, R. Favier, L.E. Stramm, J.-Å. Gustafsson, L.A. Rethy, W. Rens, K. Krejčí, L.L. Hansen, Shin-ichiro Takebayashi, H. Hummerich, R. Bucala, Y. Shi, D.H. Spathas, C. Jacquot, F.A. Ponce de León, G.P. Holmes, A. Matsuura, V. Orphanos, M. Trubia, S. Stilgenbauer, P. Gaudray, T.K. Watanabe, D.J. Gilbert, P. Bray-Ward, G. Weber, J. Koch, K. Kitada, H. Iwasaki, G. Gaudray, S. Katabami, S. Raynaud, T. Watanabe, C. Morelli, Veronica van Heyningen, Franki Speleman, P. Zisimopoulou, N. Serakıncı, S.A.N. Goldstein, D. Masson

المصدر: Cytogenetic and Genome Research. 86:338-339

مصطلحات موضوعية: Genetics, Index (economics), Subject (documents), Social science, Biology, Molecular Biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8bd888ca6b7b04be380725e5ed27c763
https://doi.org/10.1159/000015333

المؤلفون: D.S. Gerhard, L. Viggiano, M. Kaneko, Rogier Versteeg, Barbara R. DuPont, P.A. Ioannou, R. Koike, R. Taramelli, D. Carbonnelle, C. Lemercier, M. Hattori, S. Takai, Peter Little, V. Bhide, P. Taschner, J. Strovel, M. Trubia, Manfred Gessler, A. Tunnacliffe, S. Stilgenbauer, E. Li, C. Staib, S.E. Hayes, D.G. Stathakis, S.-H. Park, F. Hosoda, N.A. Manjunath, A.A. Bosma, H. Maruyama, M. Selkirk, Y. Franke, G.M. Maniatis, T. Mattina, L. Sabatier, M. Lepke, S. Sabbioni, Nicoletta Archidiacono, A. Fogli, P.J. Yarowsky, K. Georgas, D. Quincey, L.V. Debelenko, S. Forbes, H.A. van Lith, U. Mahlknecht, H. Kawakami, W. Wuyts, Mariano Rocchi, U. Sohn, G.P. Holmes, J. Stamberg, A. Matsuura, T. Kuramoto, Shin-ichiro Takebayashi, N. Serakıncı, Matthew Breen, V. Orphanos, W. Rens, K. De Boulle, M. Athanasiou, S.-H. Kim, S. Grimmond, P. Lustenberger, M. Schmid, H. Narimatsu, Y.-O. Kim, R.J. Peoples, M. Rosati, J. Harris, K. Yuri, J.L. Marsh, H.C. Au, Y.-J. Kang, P. Gaudray, E. Schuuring, A. De Paepe, M. Zollo, J. Cruces, K. Krejčí, K. Hoehn, H. Inoko, T.K. Watanabe, C. Lo Nigro, M.C. Yoshida, J. Justesen, T. Kudo, Jet Bliek, C. Morelli, D.J. Gilbert, P. Bray-Ward, Franki Speleman, T. Torii, C.L. Pin, R. Korstanje, G. Chenevix-Trench, M. Horie, C.M. Croce, G. Weber, P.G. Gallagher, T. Kitamura, N. Sato, J. Koch, S.A.N. Goldstein, C.N. Sprung, G. Pottier, M. Gordon, S. Giglio, K. Kitada, H. Hummerich, M. Kinebuchi, T. Leeb, L.J. Conner, K. Amimoto, P. Zisimopoulou, Marcel M.A.M. Mannens, B. Brenig, Grant C. Sellar, M. James, A. Veronese, H.-J. Koh, A. Calender, C. Roussakis, M.A. Ferguson-Smith, Y.-K. Wang, Teijiro Aso, H. Iwasaki, P.A. Martin-DeLeon, H. Satoh, E. Gentile, M.-D. Devignes, P. Grossfeld, G. Gaudray, N. Miyasaka, L.L. Hansen, O. Marcu, X. Deng, S. Raynaud, F. Grummt, T. Haaf, T. Watanabe, R. Bucala, Y. Shi, C.G. Jakobsen, K. Yamada, X. Reveles, F. Yang, T. Liehr, L. Martins, N. Spieker, D.H. Spathas, C. Jacquot, F.A. Ponce de León, L. Canaff, N. Saitou, Veronica van Heyningen, L.F.M. van Zutphen, Masaki Okano, N.A. Jenkins, P.J. Willems, W. Mann, M.G. Denis, S. Osborne Lawrence, K. Smith, S. Nakamura, Katsuzumi Okumura, T. Shiina, J.P. Murnane, E. Karayianni, M. Tixier-Boichard, I.E. Scheffler, R. Favier, L.E. Stramm, C. Berger, B. Zabel, J.-Å. Gustafsson, Melissa H. Little, L.A. Rethy, T. Kozaki, F. Parente, L. Burridge, S. Katabami, D. Masson, K. Kikuchi, N. Katsanis, C-C. Hu, R. Carrozzo, T. Taguchi, C. Talbot, C. Magnanini, L. Reid, G. Arrigo, N.G. Copeland, I. Nanda, J.T. Mascarello, T. Miyachi, C. Turc-Carel, Glen A. Evans, L.A. Pérez Jurado, N. Van Roy, D. Hoelzer, M. Ohki, G.N. Hendy, C. Desmaze, H.-Z. Chen, P.C.M. O’Brien, W. Van Hul, G.F. Carle, H.-H. Ropers, S.-Y. Park, Masanori Hatakeyama, C. Alberti, S.F. Konieczny, T. Iizuka, O. Zuffardi, J.P. Simmer, J.J. Bitgood, J. Kalla, K. Ladjali-Mohammedi, T. Serikawa, M. Negrini, T. Thangarajah, B. Gawin, H. Himmelbauer, Giovanna Grimaldi, T. Hardt, G. Barbanti-Brodano, E. Verdin, A. Strub, U. Francke, T.-L. Huh

المصدر: Cytogenetic and Genome Research. 86:167-167

مصطلحات موضوعية: Evolutionary biology, Cell culture, Genetics, Biology, Molecular Biology, Genetics (clinical), Human genetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6697477d0bd4ccbca5a25f441762654b
https://doi.org/10.1159/000015335