Novel and known variants in GJA3 and LIM2 in congenital cataract families from North India von Goyal, Shiwali, Singh, Ravijit, Singh, Jai Rup, Vanita, Vanita

Volltext

Genome-Wide Association Study Identifies a Novel Locus Contributing to Type 2 Diabetes Susceptibility in Sikhs of Punjabi Origin From India von SAXENA, Richa, SALEHEEN, Danish, SIM, Xueling, HASSANALI, Neelam, RADHA, Venkatesan, CHIDAMBARAM, Manickam, LIJU, Samuel, REES, Simon D, NG, Daniel Peng-Keat, WONG, Tien-Yin, YAMAUCHI, Toshimasa, HARA, Kazuo, BEEN, Latonya F, TANAKA, Yasushi, HIROSE, Hiroshi, MCCARTHY, Mark I, MORRIS, Andrew P, BASIT, Abdul, BARNETT, Anthony H, KATULANDA, Prasad, MATTHEWS, David, MOHAN, Viswanathan, WANDER, Gurpreet S, GARAVITO, Martha L, JAI RUP SINGH, MEHRA, Narinder K, RALHAN, Sarju, ILYAS KAMBOH, M, MULVIHILL, John J, MAEGAWA, Hiroshi, TOBE, Kazuyuki, MAEDA, Shiro, CHO, Yoon S, SHYONG TAI, E, BRAUN, Timothy, KELLY, M. Ann, CHAMBERS, John C, KOONER, Jaspal S, KADOWAKI, Takashi, DELOUKAS, Panos, RADER, Daniel J, DANESH, John, SANGHERA, Dharambir K, BJONNES, Andrew, ROBIN YOUNG, WEANG KEE HO, RASHEED, Asif, FROSSARD, Philippe

Volltext

Assessing the prediction of type 2 diabetes risk using polygenic and clinical risk scores in South Asian study populations von Rout, Madhusmita, Wander, Gurpreet S., Ralhan, Sarju, Singh, Jai Rup, Aston, Christopher E., Blackett, Piers R., Chernausek, Steven, Sanghera, Dharambir K.

Volltext

A Bidirectional Mendelian Randomization Study to evaluate the causal role of reduced blood vitamin D levels with type 2 diabetes risk in South Asians and Europeans von Bejar, Cynthia A, Goyal, Shiwali, Afzal, Shoaib, Mangino, Massimo, Zhou, Ang, van der Most, Peter J, Bao, Yanchun, Gupta, Vipin, Smart, Melissa C, Walia, Gagandeep K, Verweij, Niek, Power, Christine, Prabhakaran, Dorairaj, Singh, Jai Rup, Mehra, Narinder K, Wander, Gurpreet S, Ralhan, Sarju, Kinra, Sanjay, Kumari, Meena, de Borst, Martin H, Hyppönen, Elina, Spector, Tim D, Nordestgaard, Børge G, Blackett, Piers R, Sanghera, Dharambir K

Volltext

A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family von Vanita, Vanita, Singh, Daljit, Robinson, Peter N., Sperling, Karl, Singh, Jai Rup

Volltext

Genome-wide linkage scan to identify loci associated with type 2 diabetes and blood lipid phenotypes in the Sikh Diabetes Study von Sanghera, Dharambir K, Been, Latonya F, Ralhan, Sarju, Wander, Gurpreet S, Mehra, Narinder K, Singh, Jai Rup, Ferrell, Robert E, Kamboh, Mohammed I, Aston, Christopher E

Volltext

Mutation screening in autosomal dominant congenital cataract families from North India von Goyal, Shiwali, Singh, Ravijit, Singh, Jai Rup, Vanita, Vanita

Volltext

A unique form of autosomal dominant cataract explained by gene conversion between β-crystallin B2 and its pseudogene von Vanita, Sarhadi, Virinder, Reis, André, Jung, Martin, Singh, Daljit, Sperling, Karl, Singh, Jai Rup, Bürger, Joachim

Volltext

Associations of autozygosity with a broad range of human phenotypes von Mason, Dan, Pirastu, Nicola, Gandin, Ilaria, Lin, Kuang, Deelen, Patrick, Schurmann, Claudia, Baumbach, Clemens, Fuchsberger, Christian, Gao, He, Jia, Yucheng, van der Most, Peter J, Priyanka, Tallapragada Divya Sri, Salvi, Erika, Smart, Melissa C, Spracklen, Cassandra N, Verweij, Niek, Warren, Helen R, Yousri, Noha A, Zhao, Wei, Borja, Judith B, Bottinger, Erwin P, Broer, Linda, Concas, Maria Pina, Damulina, Anna, Daneshpour, Maryam S, Delgado, Graciela E, Freedman, Barry I, Goel, Anuj, Goodarzi, Mark O, Graff, Mariaelisa, Grodstein, Francine, Guo, Yu, Halevy, Avner, Höfer, Imo, Huang, Jinyan, Kanai, Masahiro, Kessler, Thorsten, Khor, Chiea Chuen, Kutalik, Zoltán, Launer, Lenore J, Lerch, Markus M, London, Stephanie J, Loomis, Stephanie, Luan, Jian’an, Manichaikul, Ani W, Meitinger, Thomas, Milani, Lili, Millwood, Iona Y, Ong, Ken K, Orozco, Lorena, Pattaro, Cristian, Pattie, Alison, Räikkönen, Katri, Ralhan, Sarju, van Rooij, Frank J A, Sabanayagam, Charumathi, van Setten, Jessica, Sever, Peter J, Shi, Yuan, Shrestha, Smeeta, Starr, John M, Tham, Yih-Chung, Tillander, Annika, Yuan, Jian-Min, Zhang, Liang, Bennett, David A, van den Berg, Leonard H, Berndt, Sonja I, Bielak, Lawrence F, Bouchard, Claude, Bradfield, Jonathan P, Brody, Jennifer A, Caulfield, Mark J, Cesarini, David, Eriksson, Johan G, Feitosa, Mary, Gieger, Christian, Goyette, Philippe, Gyllensten, Ulf, Hakonarson, Hakon, Hunt, Steven C, Jaddoe, Vincent W V, Karpe, Fredrik, März, Winfried, McCarthy, Mark I, Metspalu, Andres, Oldehinkel, Albertine J, Palmas, Walter, Pasterkamp, Gerard G, Porteous, David J, Rotimi, Charles, Sanghera, Dharambir K, Toniolo, Daniela, Wang, Carol A, Magnusson, Patrik K. E., Uitterlinden, André G, Franceschini, Nora, Hayward, Caroline, Walters, Robin G, Perry, John R. B.

Volltext

Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes von Imamura, Minako, Takahashi, Atsushi, Yamauchi, Toshimasa, Hara, Kazuo, Yasuda, Kazuki, Grarup, Niels, Zhao, Wei, Wang, Xu, Huerta-Chagoya, Alicia, Hu, Cheng, Moon, Sanghoon, Long, Jirong, Kwak, Soo Heon, Rasheed, Asif, Saxena, Richa, Ma, Ronald C. W., Okada, Yukinori, Iwata, Minoru, Hosoe, Jun, Shojima, Nobuhiro, Iwasaki, Minaka, Fujita, Hayato, Suzuki, Ken, Danesh, John, Jørgensen, Torben, Jørgensen, Marit E., Witte, Daniel R., Brandslund, Ivan, Christensen, Cramer, Hansen, Torben, Mercader, Josep M., Flannick, Jason, Moreno-Macías, Hortensia, Burtt, Noël P., Zhang, Rong, Kim, Young Jin, Zheng, Wei, Singh, Jai Rup, Tam, Claudia H. T., Hirose, Hiroshi, Maegawa, Hiroshi, Ito, Chikako, Kaku, Kohei, Watada, Hirotaka, Tanaka, Yasushi, Tobe, Kazuyuki, Kawamori, Ryuzo, Kubo, Michiaki, Cho, Yoon Shin, Chan, Juliana C. N., Sanghera, Dharambir, Frossard, Philippe, Park, Kyong Soo, Shu, Xiao-Ou, Kim, Bong-Jo, Florez, Jose C., Tusié-Luna, Teresa, Jia, Weiping, Tai, E Shyong, Pedersen, Oluf, Saleheen, Danish, Maeda, Shiro, Kadowaki, Takashi

Volltext

Polygenic Risk Score Assessment for Coronary Artery Disease in Asian Indians von Rout, Madhusmita, Tung, Gurleen Kaur, Singh, Jai Rup, Mehra, Narinder Kumar, Wander, Gurpreet S., Ralhan, Sarju, Sanghera, Dharambir K.

Volltext

Genome-wide association study of 25(OH) Vitamin D concentrations in Punjabi Sikhs: Results of the Asian Indian diabetic heart study von Sapkota, Bishwa R., Hopkins, Ruth, Bjonnes, Andrew, Ralhan, Sarju, Wander, Gurpreet S., Mehra, Narinder K., Singh, Jai Rup, Blackett, Piers R., Saxena, Richa, Sanghera, Dharambir K.

Volltext

Ring chromosome 7 in an Indian woman von Kaur, Anupam, Dhillon, Sumit, Garg, P. D., Singh, Jai Rup

Volltext

Genetic and segregation analysis of congenital cataract in the Indian population von Vanita, Jai Rup, Singh, Daljit, Singh

Volltext

Screening of CYP1B1 Arg368His as predominant mutation in North Indian primary open angle glaucoma and juvenile onset glaucoma patients von Kaur, Avneet, Vanita, Vanita, Singh, JaiRup

Volltext

A Novel Form of “Central Pouchlike” Cataract, with Sutural Opacities, Maps to Chromosome 15q21-22 von Vanita, A., Singh, Jai Rup, Sarhadi, Virinder K., Singh, Daljit, Reis, André, Rueschendorf, Franz, Becker-Follmann, Johannes, Jung, Martin, Sperling, Karl

Volltext

The Khatri Sikh Diabetes Study (SDS): Study Design, Methodology, Sample Collection, and Initial Results von Sanghera, Dharambir K., Bhatti, Jaswinder S., Bhatti, Gurjit K., Ralhan, Sarju K., Wander, Gurpreet S., Singh, Jai Rup, Bunker, Clareann H., Weeks, Daniel E., Kamboh, M. Ilyas, Ferrell, Robert E.

Volltext

A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family von Saini, Seema, Robinson, Peter N., Singh, Jai Rup, Vanita, Vanita

Volltext

Pyknodysostosis: Visceral manifestations and simian crease von ARVIND RUP SINGH, KAUR, Anupam, NAND KISHORE ANAND, SHARMA, Sudesh, JAI RUP SINGH

Volltext

A Bidirectional Mendelian Randomization Study to evaluate the causal role of reduced blood vitamin D levels with type 2 diabetes risk in South Asians and Europeans von Bejar, Cynthia A, Goyal, Shiwali, Afzal, Shoaib, Mangino, Massimo, Zhou, Ang, van der Most, Peter J, Bao, Yanchun, Gupta, Vipin, Smart, Melissa C, Walia, Gagandeep K, Verweij, Niek, Power, Christine, Prabhakaran, Dorairaj, Singh, Jai Rup, Mehra, Narinder K, Wander, Gurpreet S, Ralhan, Sarju, Kinra, Sanjay, Kumari, Meena, de Borst, Martin H, Hyppönen, Elina, Spector, Tim D, Nordestgaard, Børge G, Blackett, Piers R, Sanghera, Dharambir K

Volltext