Search Results

Molecular genetics of Bardet-Biedl syndrome (BBS) in the Newfoundland population

by Young, Terry-Lynn, 1961-
Published 2000

The Newfoundland population: a unique resource for genetic investigation of complex diseases

by Rahman, P.
Published in Human Molecular Genetics (2004)

The D90A mutation results in a polymorphism of Cu, Zn superoxide dismutase that is prevalent in northern Sweden and Finland

by Själander, A., Beckman, G., Deng, H.-X., lqbal, Z., Tainer, J.A., Siddique, T.
Published in Human Molecular Genetics (1995)

The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13

by Lind, Lisbet, Lundström, Anita, Hofer, Per-Åke, Holmgren, Gösta
Published in Human Molecular Genetics (1994)

The Newfoundland population: a unique resource for genetic investigation of complex diseases

by Rahman, P., Jones, A., Curtis, J., Bartlett, S., Peddle, L., Fernandez, B. A., Freimer, N. B.
Published in Human Molecular Genetics (2003)

Replication and extension of genome-wide association study results for obesity in 4923 adults from northern Sweden

by Renström, Frida, Payne, Felicity, Nordström, Anna, Brito, Ema C., Rolandsson, Olov, Hallmans, Göran, Barroso, Ines, Nordström, Peter, Franks, Paul W.
Published in Human Molecular Genetics (2009)

Disruption of the neurexin 1 gene is associated with schizophrenia

by Toulopoulou, T, Wiersma, D, Murray, R, Ruggeri, M, Tosato, S, Bonetto, C, Steinberg, S, Sigurdsson, E, Sigmundsson, T, Petursson, H, Gylfason, A, Olason, PI, Hardarsson, G, Jonsdottir, GA, Cahn, W, de Haan, L, Krabbendam, L, MyinGermeys, I, Werge, T, Kiemeney, LA, Franke, B, Pietiläinen, OPH, Picchioni, M, Vassos, E, Ettinger, U, Rietschel, M, Gustafsson, O, BuizerVoskamp, JE, Fossdal, R, Giegling, I, Sabatti, C, Ophoff, RA, Möller, HJ, Hartmann, AM, Hoffmann, P, Crombie, C, Rujescu, D, Veltman, J, Fraser, G, St Clair, D, Peltonen, L, Stefansson, K, Barnes, MR, Ingason, A, Stefansson, H, Nöthen, MM, Walker, N, Lonnqvist, J, Suvisaari, J, TuulioHenriksson, A
Published in Human Molecular Genetics (2009)

European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene.

by Rafnar, T, Vermeulen, S H, Sulem, P, Thorleifsson, G, Aben, Katja K H, Witjes, J A, Grotenhuis, A J, Verhaegh, G W, Hulsbergen-van de Kaa, C A, Besenbacher, S, Gudbjartsson, D, Stacey, S N, Gudmundsson, J, Johannsdottir, H, Bjarnason, H, Zanon, C, Helgadottir, H, Jonasson, J G, Tryggvadottir, L, Jonsson, E, Geirsson, G, Nikulasson, S, Petursdottir, V, Bishop, D T, Chung-Sak, S, Choudhury, Ananya, Elliott, F, Barrett, J H, Knowles, M A, de Verdier, P J, Ryk, C, Lindblom, A, Rudnai, P, Gurzau, E, Koppova, K, Vineis, P, Polidoro, S, Guarrera, S, Sacerdote, C, Panadero, A, Sanz-Velez, J I, Sanchez, M, Valdivia, G, Garcia-Prats, M D, Hengstler, J G, Selinski, S, Gerullis, H, Ovsiannikov, D, Khezri, A, Aminsharifi, Al, Malekzadeh, M, van den Berg, L H, Ophoff, R A, Veldink, J H, Zeegers, M P, Kellen, E, Fostinelli, J, Andreoli, D, Arici, C, Porru, S, Buntinx, F, Ghaderi, A, Golka, K, Mayordomo, J I, Matullo, G, Kumar, R, Steineck, G, Kiltie, A E, Kong, A, Thorsteinsdottir, U, Stefansson, K, Kiemeney, L A
Published in Human Molecular Genetics (2011)

A genome-wide scan reveals a maternal susceptibility locus for pre-eclampsia on chromosome 2p13

by Arngrimsson, R, Sigurardottir, S, Frigge, M L, Bjarnad ttir, R I, Jonsson, T, Stefansson, H, Baldursdottir, A, Einarsdottir, A S, Palsson, B, Snorradottir, S, Lachmeijer, A M, Nicolae, D, Kong, A, Bragason, B T, Gulcher, J R, Geirsson, R T, Stefansson, K
Published in Human Molecular Genetics (2009)

The lysosomal disease caused by mutant VPS33A

by Pavlova, E., Shatunov, A., Wartosch, L., Moskvina, A., Nikolaeva, L., Bright, N., Tylee, K., Church, H., Ballabio, A., Luzio, J., Cox, T.
Published in Human Molecular Genetics (2019)

The lysosomal disease caused by mutant VPS33A

by Pavlova, Elena V, Shatunov, Aleksey, Wartosch, Lena, Moskvina, Alena I, Nikolaeva, Lena E, Bright, Nicholas A, Tylee, Karen L, Church, Heather J, Ballabio, Andrea, Luzio, J Paul, Cox, Timothy M
Published in Human Molecular Genetics (2019)

Extended haplotype with rs41524547-G defines the ancestral origin of SCA10

by McFarland, Karen N, Tiwari, Anjana, Hashem, Vera, Zhang, Linwei, Zeng, Desmond, Vincent, Justin, Arredondo, Maria J, Johnson, Kristy L, Gan, Shi Rui, Yabe, Ichiro, Skov, Laurits, Rasmussen, Astrid, Ashizawa, Tetsuo
Published in Human Molecular Genetics (2024)

Common variation at 16p11.2 is associated with glycosuria in pregnancy: findings from a genome-wide association study in European women

by Lee, Matthew A, McMahon, George, Karhunen, Ville, Wade, Kaitlin H, Corbin, Laura J, Hughes, David A, Smith, George Davey, Lawlor, Debbie A, Jarvelin, Marjo-Riitta, Timpson, Nicholas J
Published in Human Molecular Genetics (2020)

Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances

by Fatemifar, G, Hoggart, CJ, Paternoster, L, Kemp, JP, Prokopenko, I, Horikoshi, M, Wright, VJ, Tobias, JH, Richmond, S, Zhurov, AI, Toma, AM, Pouta, A, Taanila, A, Sipila, K, Lähdesmäki, R, Pillas, D, Geller, F, Feenstra, B, Melbye, M, Nohr, EA, Ring, SM, St Pourcain, B, Timpson, NJ, Smith, GD, Jarvelin, MR, Evans, DM
Published 2013

Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances

by Fatemifar, G., Hoggart, C., Paternoster, L., Kemp, J., Prokopenko, I., Horikoshi, M., Wright, V., Tobias, J., Richmond, S., Zhurov, A., Toma, A., Pouta, A., Taanila, A., Sipila, K., Lähdesmäki, R., Pillas, D., Geller, F., Feenstra, B., Melbye, M., Nohr, E., Ring, S., St Pourcain, B., Timpson, N., Davey Smith, G., Jarvelin, M., Evans, D.
Published in Human Molecular Genetics (2013)

PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome

by Pelet, Anna, Skopova, Vaclava, Steuerwald, Ulrike, Baresova, Veronika, Zarhrate, Mohammed, Plaza, Jean-Marc, Hnizda, Ales, Krijt, Matyas, Souckova, Olga, Wibrand, Flemming, Andorsdóttir, Guðrið, Joensen, Fróði, Sedlak, David, Bleyer, Anthony J, Kmoch, Stanislav, Lyonnet, Stanislas, Zikanova, Marie
Published in Human Molecular Genetics (2019)

The lysosomal disease caused by mutant VPS33A

by Pavlova, Elena V, Shatunov, Aleksey, Wartosch, Lena, Moskvina, Alena I, Nikolaeva, Lena E, Bright, Nicholas A, Tylee, Karen L, Church, Heather J, Ballabio, Andrea, Luzio, J Paul, Cox, Timothy M
Published in Human Molecular Genetics (2019)

Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption

by Sulem, P., Gudbjartsson, D.F., Geller, F., Prokopenko, I., Feenstra, B., Aben, K.K.H., Franke, B., Heijer, M. den, Kovacs, P., Stumvoll, M., Magi, R., Yanek, L.R., Becker, L.C., Boyd, H.A., Stacey, S.N., Walters, G.B., Jonasdottir, A., Thorleifsson, G., Holm, H., Gudjonsson, S.A., Rafnar, T., Bjornsdottir, G., Becker, D.M., Melbye, M., Kong, A., Tonjes, A., Thorgeirsson, T., Thorsteinsdottir, U., Kiemeney, L.A.L.M., Stefansson, K.
Published in Human Molecular Genetics (2011)

European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene

by Rafnar, T., Vermeulen, H.H.M., Sulem, P., Thorleifsson, G., Aben, K.K.H., Witjes, J.A., Grotenhuis, A.J., Verhaegh, G.W.C.T., Hulsbergen-van de Kaa, C.A., Besenbacher, S., Gudbjartsson, D., Stacey, S.N., Gudmundsson, J., Johannsdottir, H., Bjarnason, H., Zanon, C., Helgadottir, H., Jonasson, J.G., Tryggvadottir, L., Jonsson, E., Geirsson, G., Nikulasson, S., Petursdottir, V., Bishop, D.T., Chung-Sak, S., Choudhury, A., Elliott, F., Barrett, J.H., Knowles, M.A., Verdier, P. de, Ryk, C., Lindblom, A., Rudnai, P., Gurzau, E, Koppova, K., Vineis, P., Polidoro, S., Guarrera, S., Sacerdote, C., Panadero, A., Sanz-Velez, J.I., Sanchez, M., Valdivia, G., Garcia-Prats, M.D., Hengstler, J.G., Selinski, S., Gerullis, H., Ovsiannikov, D., Khezri, A., Aminsharifi, A.
Published in Human Molecular Genetics (2011)

The lysosomal disease caused by mutant VPS33A

by Pavlova, Elena V., Shatunov, Aleksey, Wartosch, Lena, Moskvina, Alena I., Nikolaeva, Lena E., Bright, Nicholas A., Tylee, Karen L., Church, Heather J., Ballabio, Andrea, Luzio, J. Paul, Cox, Timothy M.
Published in Human Molecular Genetics (2019)