Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome
Kelley, B. P, Malfait, F, Bonafe, L, Baldridge, D, Homan, E, Symoens, S, Willaert, A, Elcioglu, N, Van Maldergem, Lionel, Verellen-Dumoulin, C, Gillerot, Y, Napierala, D, Krakow, D, Beighton, P, Superti-Furga, A, De Paepe, Alexandra, Lee, B
Published in Journal of bone and mineral research (01.03.2011)
Published in Journal of bone and mineral research (01.03.2011)
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Dspp-independent Effects of Transgenic Trps1 Overexpression on Dentin Formation
Mobley, C.G., Kuzynski, M., Zhang, H., Jani, P., Qin, C., Napierala, D.
Published in Journal of dental research (01.08.2015)
Published in Journal of dental research (01.08.2015)
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Journal Article
Tricho-Rhino-Phalangeal Syndrome with Supernumerary Teeth
Kantaputra, P., Miletich, I., Lüdecke, H.-J., Suzuki, E.Y., Praphanphoj, V., Shivdasani, R., Wuelling, M., Vortkamp, A., Napierala, D., Sharpe, P.T.
Published in Journal of dental research (01.11.2008)
Published in Journal of dental research (01.11.2008)
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Journal Article
The presence of germ line mosaicism in cleidocranial dysplasia
Pal, T, Napierala, D, Becker, TA, Loscalzo, M, Baldridge, D, Lee, B, Sutphen, R
Published in Clinical genetics (01.06.2007)
Published in Clinical genetics (01.06.2007)
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Journal Article
Mutations in SERPINF1 cause osteogenesis imperfecta type VI
Homan, Erica P, Rauch, Frank, Grafe, Ingo, Lietman, Caressa, Doll, Jennifer A, Dawson, Brian, Bertin, Terry, Napierala, Dobrawa, Morello, Roy, Gibbs, Richard, White, Lisa, Miki, Rika, Cohn, Daniel H, Crawford, Susan, Travers, Rose, Glorieux, Francis H, Lee, Brendan
Published in Journal of bone and mineral research (01.12.2011)
Published in Journal of bone and mineral research (01.12.2011)
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Journal Article
Runx2 contributes to murine Col10a1 gene regulation through direct interaction with its cis‐enhancer
Li, Feifei, Lu, Yaojuan, Ding, Ming, Napierala, Dobrawa, Abbassi, Sam, Chen, Yuqing, Duan, Xiangyun, Wang, Siying, Lee, Brendan, Zheng, Qiping
Published in Journal of bone and mineral research (01.12.2011)
Published in Journal of bone and mineral research (01.12.2011)
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Journal Article
Effect of polymorphism in the LIF gene on reproductive performance of hybrid Polish Large White and Polish Landrace sows : short communication
Wierzchowska, A., Kawecka, M., Matysiak, B., Napierala, D., Jacyno, E.
Published in South African journal of animal science (01.01.2014)
Published in South African journal of animal science (01.01.2014)
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Journal Article
Transcriptional repression of the Dspp gene leads to dentinogenesis imperfecta phenotype in Col1a1-Trps1 transgenic mice
Napierala, Dobrawa, Sun, Yao, Maciejewska, Izabela, Bertin, Terry K, Dawson, Brian, D'Souza, Rena, Qin, Chunlin, Lee, Brendan
Published in Journal of bone and mineral research (01.08.2012)
Published in Journal of bone and mineral research (01.08.2012)
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Localization of the Cis‐Enhancer Element for Mouse Type X Collagen Expression in Hypertrophic Chondrocytes In Vivo
Zheng, Qiping, Keller, Bettina, Zhou, Guang, Napierala, Dobrawa, Chen, Yuqing, Zabel, Bernhard, Parker, Andrew E, Lee, Brendan
Published in Journal of bone and mineral research (01.06.2009)
Published in Journal of bone and mineral research (01.06.2009)
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Journal Article
Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation
Napierala, Dobrawa, Garcia-Rojas, Xavier, Sam, Kathy, Wakui, Keiko, Chen, Connie, Mendoza-Londono, Roberto, Zhou, Guang, Zheng, Qiping, Lee, Brendan
Published in Molecular genetics and metabolism (01.09.2005)
Published in Molecular genetics and metabolism (01.09.2005)
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Journal Article
Short Report: The presence of germ line mosaicism in cleidocranial dysplasia
Pal, T, Napierala, D, Becker, T A, Loscalzo, M, Baldridge, D, Lee, B, Sutphen, R
Published in Clinical genetics (01.06.2007)
Published in Clinical genetics (01.06.2007)
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Journal Article
Characterization of a New Syndrome That Associates Craniosynostosis, Delayed Fontanel Closure, Parietal Foramina, Imperforate Anus, and Skin Eruption: CDAGS
Mendoza-Londono, Roberto, Lammer, Edward, Watson, Rosemarie, Harper, John, Hatamochi, Atsushi, Hatamochi-Hayashi, Saori, Napierala, Dobrawa, Hermanns, Pia, Collins, Sinead, Roa, Benjamin B., Hedge, Madhuri R., Wakui, Keiko, Nguyen, Diep, Stockton, David W., Lee, Brendan
Published in American journal of human genetics (01.07.2005)
Published in American journal of human genetics (01.07.2005)
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1H-NMR spin-spin relaxation time assessment of the reflection coefficient of the Triticale seed cell wall-plasmalemma barrier to mannitol. [Erratum: July 1997, v. 20 (7), p. 967-968.]
Miedziejko, E.M, Plenzler, G.B, Napierala, D.M, Narozna, A.T
Published in Plant, cell and environment (01.12.1996)
Published in Plant, cell and environment (01.12.1996)
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Journal Article
Homology of DNA sequences encompassing malignant hyperthermia mutation site in the ovine (Ovis aries) and porcine (Sus scrofa) ryr1 gene
Gronek, P, Napierala, D, Nuc, K, Steppa, R, Plawski, A, Slomski, R
Published in Journal of animal breeding and genetics (1986) (01.08.1999)
Published in Journal of animal breeding and genetics (1986) (01.08.1999)
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Journal Article
Molecular Diagnostics of Genetic Diseases: Experience from Studies of DMD, APC, TSC1, and OPG Genes. Part 1
NAPIERALA, Dobrawa, PLAWSKI, Andrzej, KALAK, Robert, JURA, Jolanta, WRONKA, Jaroslaw, SOWINSKA, Jadwiga, BANASIEWICZ, Tomasz, SLOMSKI, Ryszard
Published in Journal of Clinical Biochemistry and Nutrition (01.01.2000)
Published in Journal of Clinical Biochemistry and Nutrition (01.01.2000)
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HAGEN NATHAN K.,HAGUE DAVID R.,MISTELE CHAD D.,NAPIERALA MARK E.,PEREZ MARIO A.,VELAMAKANNI BHASKARV.,YOUNG JAMES K
Year of Publication 07.03.2007
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Year of Publication 07.03.2007
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