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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
Journal Article
Presenilins Interact with Armadillo Proteins Including Neural‐Specific Plakophilin‐Related Protein and β‐Catenin
Levesque, G., Yu, G., Nishimura, M., Zhang, D. M., Levesque, L., Yu, H., Xu, D., Liang, Y., Rogaeva, E., Ikeda, M., Duthie, M., Murgolo, N., Wang, L., VanderVere, P., Bayne, M. L., Strader, C. D., Rommens, J. M., Fraser, P. E., George‐Hyslop, P. St
Published in Journal of neurochemistry (01.03.1999)
Published in Journal of neurochemistry (01.03.1999)
Get full text
Journal Article
Analysis of the 5' sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease
ROGAEV, E. I, SHERRINGTON, R, DE JONG, P. J, FRASER, P. E, ROMMENS, J. M, ST GEORGE-HYSLOP, P, WU, C, LEVESQUE, G, LIANG, Y, ROGAEVA, E. A, IKEDA, M, HOLMAN, K, LIN, C, LUKIW, W. J
Published in Genomics (San Diego, Calif.) (15.03.1997)
Published in Genomics (San Diego, Calif.) (15.03.1997)
Get full text
Journal Article
Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes
Zambetti, Noemi A, Bindels, Eric M J, Van Strien, Paulina M H, Valkhof, Marijke G, Adisty, Maria N, Hoogenboezem, Remco M, Sanders, Mathijs A, Rommens, Johanna M, Touw, Ivo P, Raaijmakers, Marc H G P
Published in Haematologica (Roma) (01.10.2015)
Published in Haematologica (Roma) (01.10.2015)
Get full text
Journal Article
Segregation Analysis in Shwachman-Diamond Syndrome: Evidence for Recessive Inheritance
Ginzberg, H., Shin, J., Ellis, L., Goobie, S., Morrison, J., Corey, M., Durie, P.R., Rommens, J.M.
Published in American journal of human genetics (01.04.2000)
Published in American journal of human genetics (01.04.2000)
Get full text
Journal Article
Identification of the Cystic Fibrosis Gene: Genetic Analysis
Kerem, Bat-sheva, Rommens, Johanna M., Buchanan, Janet A., Markiewicz, Danuta, Cox, Tara K., Chakravarti, Aravinda, Buchwald, Manuel, Tsui, Lap-Chee
Published in Science (American Association for the Advancement of Science) (08.09.1989)
Published in Science (American Association for the Advancement of Science) (08.09.1989)
Get full text
Journal Article
Determinants of the Nuclear Localization of the Heterodimeric DNA Fragmentation Factor (ICAD/CAD)
Lechardeur, Delphine, Drzymala, Luke, Sharma, Manu, Zylka, Danuta, Kinach, Robert, Pacia, Joanna, Hicks, Christopher, Usmani, Nawaid, Rommens, Johanna M., Lukacs, Gergely L.
Published in The Journal of cell biology (24.07.2000)
Published in The Journal of cell biology (24.07.2000)
Get full text
Journal Article
Identification of Mutations in Regions Corresponding to the Two Putative Nucleotide (ATP)-Binding Folds of the Cystic Fibrosis Gene
Kerem, Bat-sheva, Zielenski, Julian, Markiewicz, Danuta, Bozon, Dominique, Gazit, Ephraim, Yahav, Jacob, Kennedy, Dara, Riordan, John R., Collins, Francis S., Rommens, Johanna M., Tsui, Lap-Chee
Published in Proceedings of the National Academy of Sciences - PNAS (01.11.1990)
Published in Proceedings of the National Academy of Sciences - PNAS (01.11.1990)
Get full text
Journal Article
Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA
Riordan, John R., Rommens, Johanna M., Kerem, Bat-sheva, Alon, Noa, Rozmahel, Richard, Grzelczak, Zbyszko, Zielenski, Julian, Lok, Si, Plavsic, Natasa, Chou, Jia-Ling, Drumm, Mitchell L., Iannuzzi, Michael C., Collins, Francis S., Tsui, Lap-Chee
Published in Science (American Association for the Advancement of Science) (08.09.1989)
Published in Science (American Association for the Advancement of Science) (08.09.1989)
Get full text
Journal Article
Characterization of the Split Hand/Split Foot Malformation Locus SHFM1 at 7Q21.3–Q22.1 and Analysis of a Candidate Gene for Its Expression during Limb Development
Crackower, Michael A., Scherer, Stephen W., Rommens, Johanna M., Hui, Chi-Chung, Poorkaj, Parvoneh, Soder, Sylvia, Cobben, Jan Maarten, Hudgins, Louanne, Evans, James P., Tsui, Lap-Chee
Published in Human molecular genetics (01.05.1996)
Published in Human molecular genetics (01.05.1996)
Get full text
Journal Article
Identification of the Cystic Fibrosis Gene: Chromosome Walking and Jumping
Rommens, Johanna M., Iannuzzi, Michael C., Kerem, Bat-sheva, Drumm, Mitchell L., Melmer, Georg, Dean, Michael, Rozmahel, Richard, Cole, Jeffery L., Kennedy, Dara, Hidaka, Noriko, Zsiga, Martha, Buchwald, Manuel, Riordan, John R., Tsui, Lap-Chee, Collins, Francis S.
Published in Science (American Association for the Advancement of Science) (08.09.1989)
Published in Science (American Association for the Advancement of Science) (08.09.1989)
Get full text
Journal Article
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)
Get full text
Journal Article