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Re-investigation and RNA sequencing-based identification of genes with placenta-specific imprinted expression
Okae, Hiroaki, Hiura, Hitoshi, Nishida, Yuichiro, Funayama, Ryo, Tanaka, Satoshi, Chiba, Hatsune, Yaegashi, Nobuo, Nakayama, Keiko, Sasaki, Hiroyuki, Arima, Takahiro
Published in Human molecular genetics (01.02.2012)
Published in Human molecular genetics (01.02.2012)
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Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene
Volpi, Ludovica, Roversi, Gaia, Colombo, Elisa Adele, Leijsten, Nico, Concolino, Daniela, Calabria, Andrea, Mencarelli, Maria Antonietta, Fimiani, Michele, Macciardi, Fabio, Pfundt, Rolph, Schoenmakers, Eric F.P.M., Larizza, Lidia
Published in American journal of human genetics (2010)
Published in American journal of human genetics (2010)
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Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2
Crimella, C, Baschirotto, C, Arnoldi, A, Tonelli, A, Tenderini, E, Airoldi, G, Martinuzzi, A, Trabacca, A, Losito, L, Scarlato, M, Benedetti, S, Scarpini, E, Spinicci, G, Bresolin, N, Bassi, MT
Published in Clinical genetics (01.08.2012)
Published in Clinical genetics (01.08.2012)
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Genomic, genetic and functional dissection of bitter taste responses to artificial sweeteners
Roudnitzky, Natacha, Bufe, Bernd, Thalmann, Sophie, Kuhn, Christina, Gunn, Howard C., Xing, Chao, Crider, Bill P., Behrens, Maik, Meyerhof, Wolfgang, Wooding, Stephen P.
Published in Human molecular genetics (01.09.2011)
Published in Human molecular genetics (01.09.2011)
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Imaging Study of Ventricular Scar in Arrhythmogenic Right Ventricular Cardiomyopathy: Comparison of 3D Standard Electroanatomical Voltage Mapping and Contrast-Enhanced Cardiac Magnetic Resonance
Marra, Martina Perazzolo, Leoni, Loira, Bauce, Barbara, Corbetti, Francesco, Zorzi, Alessandro, Migliore, Federico, Silvano, Maria, Rigato, Ilaria, Tona, Francesco, Tarantini, Giuseppe, Cacciavillani, Luisa, Basso, Cristina, Buja, Gianfranco, Thiene, Gaetano, Iliceto, Sabino, Corrado, Domenico
Published in Circulation. Arrhythmia and electrophysiology (01.02.2012)
Published in Circulation. Arrhythmia and electrophysiology (01.02.2012)
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Identification and functional characterization of rare mutations of the neuroligin-2 gene (NLGN2) associated with schizophrenia
Sun, Chicheng, Cheng, Min-Chih, Qin, Rosie, Liao, Ding-Lieh, Chen, Tzu-Ting, Koong, Farn-Jong, Chen, Gong, Chen, Chia-Hsiang
Published in Human molecular genetics (01.08.2011)
Published in Human molecular genetics (01.08.2011)
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Common variants in CASP3 confer susceptibility to Kawasaki disease
Onouchi, Yoshihiro, Ozaki, Kouichi, Buns, Jane C., Shimizu, Chisato, Hamada, Hiromichi, Honda, Takafumi, Terai, Masaru, Honda, Akihito, Takeuchi, Takashi, Shibuta, Shoichi, Suenaga, Tomohiro, Suzuki, Hiroyuki, Higashi, Kouji, Yasukawa, Kumi, Suzuki, Yoichi, Sasago, Kumiko, Kemmotsu, Yasushi, Takatsuki, Shinichi, Saji, Tsutomu, Yoshikawa, Tetsushi, Nagai, Toshiro, Hamamoto, Kunihiro, Kishi, Fumio, Ouchi, Kazunobu, Sato, Yoshitake, Newburger, Jane W., Baker, Annette L., Shulman, Stanford T., Rowley, Anne H., Yashiro, Mayumi, Nakamura, Yoshikazu, Wakui, Keiko, Fukushima, Yoshimitsu, Fujino, Akihiro, Tsunoda, Tatsuhiko, Kawasaki, Tomisaku, Hata, Akira, Nakamura, Yusuke, Tanaka, Toshihiro
Published in Human molecular genetics (15.07.2010)
Published in Human molecular genetics (15.07.2010)
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The Molecular Dissection of mtDNA Haplogroup H Confirms That the Franco-Cantabrian Glacial Refuge Was a Major Source for the European Gene Pool
Achilli, Alessandro, Rengo, Chiara, Magri, Chiara, Battaglia, Vincenza, Olivieri, Anna, Scozzari, Rosaria, Cruciani, Fulvio, Zeviani, Massimo, Briem, Egill, Carelli, Valerio, Moral, Pedro, Dugoujon, Jean-Michel, Roostalu, Urmas, Loogväli, Eva-Liis, Kivisild, Toomas, Bandelt, Hans-Jürgen, Richards, Martin, Villems, Richard, Santachiara-Benerecetti, A.Silvana, Semino, Ornella, Torroni, Antonio
Published in American journal of human genetics (01.11.2004)
Published in American journal of human genetics (01.11.2004)
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Genome-wide association scans identified CTNNBL1 as a novel gene for obesity
Liu, Yong-Jun, Liu, Xiao-Gang, Wang, Liang, Dina, Christian, Yan, Han, Liu, Jian-Feng, Levy, Shawn, Papasian, Christopher J., Drees, Betty M., Hamilton, James J., Meyre, David, Delplanque, Jerome, Pei, Yu-Fang, Zhang, Lei, Recker, Robert R., Froguel, Philippe, Deng, Hong-Wen
Published in Human molecular genetics (15.06.2008)
Published in Human molecular genetics (15.06.2008)
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Neurodegenerative phenotypes in an A53T α-synuclein transgenic mouse model are independent of LRRK2
DAHER, Joao Paulo L, PLETNIKOVA, Olga, MOORE, Darren J, BISKUP, Saskia, MUSSO, Alessandra, GELLHAAR, Sandra, GALTER, Dagmar, TRONCOSO, Juan C, LEE, Michael K, DAWSON, Ted M, DAWSON, Valina L
Published in Human molecular genetics (01.06.2012)
Published in Human molecular genetics (01.06.2012)
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Mutations in CSTA, Encoding Cystatin A, Underlie Exfoliative Ichthyosis and Reveal a Role for This Protease Inhibitor in Cell-Cell Adhesion
Blaydon, Diana C., Nitoiu, Daniela, Eckl, Katja-Martina, Cabral, Rita M., Bland, Philip, Hausser, Ingrid, van Heel, David A., Rajpopat, Shefali, Fischer, Judith, Oji, Vinzenz, Zvulunov, Alex, Traupe, Heiko, Hennies, Hans Christian, Kelsell, David P.
Published in American journal of human genetics (07.10.2011)
Published in American journal of human genetics (07.10.2011)
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Ethnic- and gender-specific association of the nicotinic acetylcholine receptor α4 subunit gene (CHRNA4) with nicotine dependence
Li, Ming D., Beuten, Joke, Ma, Jennie Z., Payne, Thomas J., Lou, Xiang-Yang, Garcia, Veronica, Duenes, Aristeo S., Crews, Karen M., Elston, Robert C.
Published in Human molecular genetics (01.05.2005)
Published in Human molecular genetics (01.05.2005)
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Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia
Sanna, Serena, Busonero, Fabio, Maschio, Andrea, McArdle, Patrick F., Usala, Gianluca, Dei, Mariano, Lai, Sandra, Mulas, Antonella, Piras, Maria Grazia, Perseu, Lucia, Masala, Marco, Marongiu, Mara, Crisponi, Laura, Naitza, Silvia, Galanello, Renzo, Abecasis, Gonçalo R., Shuldiner, Alan R., Schlessinger, David, Cao, Antonio, Uda, Manuela
Published in Human molecular genetics (15.07.2009)
Published in Human molecular genetics (15.07.2009)
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Integration of Genomic and Genetic Approaches Implicates IREB2 as a COPD Susceptibility Gene
DeMeo, Dawn L., Mariani, Thomas, Bhattacharya, Soumyaroop, Srisuma, Sorachai, Lange, Christoph, Litonjua, Augusto, Bueno, Raphael, Pillai, Sreekumar G., Lomas, David A., Sparrow, David, Shapiro, Steven D., Criner, Gerard J., Kim, Hong P., Chen, Zhihua, Choi, Augustine M.K., Reilly, John, Silverman, Edwin K.
Published in American journal of human genetics (09.10.2009)
Published in American journal of human genetics (09.10.2009)
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