Mammographic breast density as an intermediate phenotype for breast cancer
Boyd, Norman F, Rommens, Johanna M, Vogt, Kelly, Lee, Vivian, Hopper, John L, Yaffe, Martin J, Paterson, Andrew D
Published in The lancet oncology (01.10.2005)
Published in The lancet oncology (01.10.2005)
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Mutations in SBDS are associated with Shwachman-Diamond syndrome
Rommens, Johanna M, Boocock, Graeme R.B, Morrison, Jodi A, Popovic, Maja, Richards, Nicole, Ellis, Lynda, Durie, Peter R
Published in Nature genetics (01.01.2003)
Published in Nature genetics (01.01.2003)
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Journal Article
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type
Lerner-Ellis, Jordan P, Atkinson, Janet L, Dunbar, Gail V, Morgan, Kenneth, Hosack, Angela R, Gravel, Roy A, Lepage, Pierre, Tirone, Jamie C, Fujiwara, T Mary, Doré, Carole, Forgetta, Vince, Pawelek, Peter D, Antonicka, Hana, Shoubridge, Eric A, Coulton, James W, Rosenblatt, David S, Watkins, David, Moras, Emily, Leclerc, Daniel, Morel, Chantal F, Rommens, Johanna M, Dobson, C Melissa
Published in Nature genetics (01.01.2006)
Published in Nature genetics (01.01.2006)
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Journal Article
Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome
Shammas, Camille, Menne, Tobias F, Hilcenko, Christine, Michell, Stephen R, Goyenechea, Beatriz, Boocock, Graeme R B, Durie, Peter R, Rommens, Johanna M, Warren, Alan J
Published in The Journal of biological chemistry (13.05.2005)
Published in The Journal of biological chemistry (13.05.2005)
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Journal Article
Human Chromosome 7: DNA Sequence and Biology
Scherer, Stephen W., Cheung, Joseph, MacDonald, Jeffrey R., Osborne, Lucy R., Nakabayashi, Kazuhiko, Herbrick, Jo-Anne, Carson, Andrew R., Parker-Katiraee, Layla, Skaug, Jennifer, Khaja, Razi, Zhang, Junjun, Hudek, Alexander K., Li, Martin, Haddad, May, Duggan, Gavin E., Fernandez, Bridget A., Kanematsu, Emiko, Gentles, Simone, Christopoulos, Constantine C., Choufani, Sanaa, Kwasnicka, Dorota, Zheng, Xiangqun H., Lai, Zhongwu, Nusskern, Deborah, Zhang, Qing, Gu, Zhiping, Lu, Fu, Zeesman, Susan, Nowaczyk, Malgorzata J., Teshima, Ikuko, Chitayat, David, Shuman, Cheryl, Weksberg, Rosanna, Zackai, Elaine H., Grebe, Theresa A., Cox, Sarah R., Kirkpatrick, Susan J., Rahman, Nazneen, Friedman, Jan M., Henry H. Q. Heng, Pelicci, Pier Giuseppe, Lo-Coco, Francesco, Belloni, Elena, Shaffer, Lisa G., Pober, Barbara, Morton, Cynthia C., Gusella, James F., Gail A. P. Bruns, Korf, Bruce R., Quade, Bradley J., Ligon, Azra H., Ferguson, Heather, Higgins, Anne W., Leach, Natalia T., Herrick, Steven R., Lemyre, Emmanuelle, Farra, Chantal G., Kim, Hyung-Goo, Summers, Anne M., Gripp, Karen W., Roberts, Wendy, Szatmari, Peter, Elizabeth J. T. Winsor, Grzeschik, Karl-Heinz, Teebi, Ahmed, Minassian, Berge A., Kere, Juha, Armengol, Lluis, Pujana, Miguel Angel, Estivill, Xavier, Wilson, Michael D., Koop, Ben F., Tosi, Sabrina, Moore, Gudrun E., Boright, Andrew P., Zlotorynski, Eitan, Kerem, Batsheva, Kroisel, Peter M., Petek, Erwin, Oscier, David G., Mould, Sarah J., Döhner, Hartmut, Döhner, Konstanze, Rommens, Johanna M., Vincent, John B., Venter, J. Craig, Li, Peter W., Mural, Richard J., Adams, Mark D., Tsui, Lap-Chee
Published in Science (American Association for the Advancement of Science) (02.05.2003)
Published in Science (American Association for the Advancement of Science) (02.05.2003)
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Journal Article
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
Sherrington, R, Rogaev, E I, Liang, Y, Rogaeva, E A, Levesque, G, Ikeda, M, Chi, H, Lin, C, Li, G, Holman, K, Tsuda, T, Mar, L, Foncin, J F, Bruni, A C, Montesi, M P, Sorbi, S, Rainero, I, Pinessi, L, Nee, L, Chumakov, I, Pollen, D, Brookes, A, Sanseau, P, Polinsky, R J, Wasco, W, Da Silva, H A, Haines, J L, Perkicak-Vance, M A, Tanzi, R E, Roses, A D, Fraser, P E, Rommens, J M, St George-Hyslop, P H
Published in Nature (London) (29.06.1995)
Published in Nature (London) (29.06.1995)
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Journal Article
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
Rouleau, Guy A, Nohira, Osamu, Mathieu, Jean, Heutink, Peter, Duranceau, André, Codère, Francois, Fardeau, Michel, Brais, Bernard, Korcyn, Amos D, Chrétien, Nathalie, Rochefort, Daniel L, Tomé, Fernando M.S, Xie, Ya-Gang, Rommens, Johanna M, Blumen, Segiu, Lafrentére, Ronald G, Uyama, Eichiro, Bouchard, Jean-Pierre
Published in Nature genetics (01.02.1998)
Published in Nature genetics (01.02.1998)
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Journal Article
Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene
Rogaev, E. I, Sherrington, R, Rogaeva, E. A, Levesque, G, Ikeda, M, Liang, Y, Chi, H, Lin, C, Holman, K, Tsuda, T, Mar, L, Sorbi, S, Nacmias, B, Piacentini, S, Amaducci, L, Chumakov, I, Cohen, D, Lannfelt, L, Fraser, P. E, Rommens, J. M, George-Hyslop, P. H. St
Published in Nature (London) (31.08.1995)
Published in Nature (London) (31.08.1995)
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Journal Article
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene ( UBE3A ) in Angelman syndrome
Matsuura, Toshinobu, Sutcliffe, James S, Fang, Ping, Galjaard, Robert-Jan, Jiang, Yong-hui, Benton, Claudia S, Rommens, Johanna M, Beaudet, Arthur L
Published in Nature genetics (01.01.1997)
Published in Nature genetics (01.01.1997)
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Journal Article
Cloning and Mapping of a cDNA for Methionine Synthase Reductase, a Flavoprotein Defective in Patients with Homocystinuria
Leclerc, D., Wilson, A., Dumas, R., Gafuik, C., Song, D., Watkins, D., Heng, H. H. Q., Rommens, J. M., Scherer, S. W., Rosenblatt, D. S., Gravel, R. A.
Published in Proceedings of the National Academy of Sciences - PNAS (17.03.1998)
Published in Proceedings of the National Academy of Sciences - PNAS (17.03.1998)
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Journal Article
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene
Bull, Peter C, Thomas, Gordon R, Rommens, Johanna M, Forbes, John R, Cox, Diane Wilson
Published in Nature genetics (01.12.1993)
Published in Nature genetics (01.12.1993)
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Journal Article
The Shwachman-Bodian-Diamond Syndrome Protein Family Is Involved in RNA Metabolism
Savchenko, Alexei, Krogan, Nevan, Cort, John R., Evdokimova, Elena, Lew, Jocelyne M., Yee, Adelinda A., Sánchez-Pulido, Luis, Andrade, Miguel A., Bochkarev, Alexey, Watson, James D., Kennedy, Michael A., Greenblatt, Jack, Hughes, Timothy, Arrowsmith, Cheryl H., Rommens, Johanna M., Edwards, Aled M.
Published in The Journal of biological chemistry (13.05.2005)
Published in The Journal of biological chemistry (13.05.2005)
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Journal Article
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly
Belloni, E, Muenke, M, Roessler, E, Traverse, G, Siegel-Bartelt, J, Frumkin, A, Mitchell, H.F, Donis-Keller, H, Helms, C, Hing, A.V, Heng, H.H.Q, Koop, B, Martindale, D, Rommens, J.M, Tsui, L.-C, Scherer, S.W
Published in Nature genetics (01.11.1996)
Published in Nature genetics (01.11.1996)
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Journal Article
Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS
Mäkitie, O, Ellis, L, Durie, PR, Morrison, JA, Sochett, EB, Rommens, JM, Cole, WG
Published in Clinical genetics (01.02.2004)
Published in Clinical genetics (01.02.2004)
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Journal Article
Shwachman syndrome: Phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar
Ginzberg, Hedy, Shin, Janey, Ellis, Lynda, Morrison, Jodi, Ip, Wan, Dror, Yigal, Freedman, Melvin, Heitlinger, Leo A., Belt, Mary Ann, Corey, Mary, Rommens, Johanna M., Durie, Peter R.
Published in The Journal of pediatrics (01.07.1999)
Published in The Journal of pediatrics (01.07.1999)
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Journal Article
Positional Cloning of ZNF217 and NABC1: Genes Amplified at 20q13.2 and Overexpressed in Breast Carcinoma
Collins, Colin, Rommens, Johanna M., Kowbel, David, Godfrey, Tony, Tanner, Minna, Hwang, Soo-In, Polikoff, Daniel, Nonet, Genevieve, Cochran, Joanne, Myambo, Ken, Jay, Karen E., Froula, Jeff, Cloutier, Thomas, Kuo, Wen-Lin, Yaswen, Paul, Dairkee, Shanaz, Giovanola, Jennifer, Hutchinson, Gordon B., Isola, Jorma, Olli-P Kallioniemi, Palazzolo, Mike, Martin, Chris, Ericsson, Cheryl, Pinkel, Dan, Albertson, Donna, Li, Wu-Bo, Gray, Joe W.
Published in Proceedings of the National Academy of Sciences - PNAS (21.07.1998)
Published in Proceedings of the National Academy of Sciences - PNAS (21.07.1998)
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Journal Article
ATPase Activity of the Cystic Fibrosis Transmembrane Conductance Regulator
Li, Canhui, Ramjeesingh, Mohabir, Wang, Wei, Garami, Elizabeth, Hewryk, Marek, Lee, Daniel, Rommens, Johanna M., Galley, Kevin, Bear, Christine E.
Published in The Journal of biological chemistry (08.11.1996)
Published in The Journal of biological chemistry (08.11.1996)
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Journal Article
Serum pancreatic enzymes define the pancreatic phenotype in patients with Shwachman-Diamond syndrome
Ip, Wan F., Dupuis, Annie, Ellis, Lynda, Beharry, Satti, Morrison, Jodi, Stormon, Michael O., Corey, Mary, Rommens, Johanna M., Durie, Peter R.
Published in The Journal of pediatrics (01.08.2002)
Published in The Journal of pediatrics (01.08.2002)
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Journal Article
Shwachman-Diamond Syndrome with Exocrine Pancreatic Dysfunction and Bone Marrow Failure Maps to the Centromeric Region of Chromosome 7
Goobie, Sharan, Popovic, Maja, Morrison, Jodi, Ellis, Lynda, Ginzberg, Hedy, Boocock, Graeme R.B., Ehtesham, Nadia, Bétard, Christine, Brewer, Carl G., Roslin, Nicole M., Hudson, Thomas J., Morgan, Kenneth, Fujiwara, T. Mary, Durie, Peter R., Rommens, Johanna M.
Published in American journal of human genetics (01.04.2001)
Published in American journal of human genetics (01.04.2001)
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Journal Article
Alzheimer's Disease Associated with Mutations in Presenilin 2 is Rare and Variably Penetrant
Sherrington, R., Froelich, S., Sorbi, S., Campion, D., Chi, H., Rogaeva, E. A., Levesque, G., Rogaev, E. I., Lin, C., Liang, Y., Ikeda, M., Mar, L., Brice, A., Agid, Y., Percy, M.E., Clerget-Darpoux, F., Piacentini, S., Marcon, G., Nacmias, B., Amaducci, L., Frebourg, T., Lannfelt, L., Rommens, J. M., St George-Hyslop, P. H.
Published in Human molecular genetics (01.07.1996)
Published in Human molecular genetics (01.07.1996)
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