Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene
Briggs, M.D, Hoffman, S.M.G, King, L.M, Olsen, A.S, Mohrenweiser, H, Leroy, J.G, Mortier, G.R, Rimoin, D.L, Lachman, R.S, Gaines, E.S, Cekleniak, J.A, Knowlton, R.G, Cohn, D.H
Published in Nature genetics (01.07.1995)
Published in Nature genetics (01.07.1995)
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Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy
Irvine, Alan D, Corden, Laura D, Swensson, Ole, Swensson, Beate, Moore, Jonathan E, Frazer, David G, Smith, Frances J.D, Knowlton, Robert G, Christophers, Enno, Rochels, Rainer, Uitto, Jouni, McLean, W.H. Irwin
Published in Nature genetics (01.06.1997)
Published in Nature genetics (01.06.1997)
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Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia–Multiple Epiphyseal Dysplasia Disease Spectrum
Briggs, Michael D., Mortier, Geert R., Cole, William G., King, Lily M., Golik, Steven S., Bonaventure, Jacky, Nuytinck, Lieve, De Paepe, Anne, Leroy, Jules G., Biesecker, Leslie, Lipson, Mark, Wilcox, William R., Lachman, Ralph S., Rimoin, David L., Knowlton, Robert G., Cohn, Daniel H.
Published in American journal of human genetics (01.02.1998)
Published in American journal of human genetics (01.02.1998)
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Stop Codon in the Procollagen II Gene (COL2A1) in a Family with the Stickler Syndrome (Arthro-Ophthalmopathy)
Ahmad, Nilofer Nina, Ala-Kokko, Leena, Knowlton, Robert G., Jimenez, Sergio A., Weaver, Eric J., Maguire, Joseph I., Tasman, William, Prockop, Darwin J.
Published in Proceedings of the National Academy of Sciences - PNAS (01.08.1991)
Published in Proceedings of the National Academy of Sciences - PNAS (01.08.1991)
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A genetic linkage map of the human genome
Donis-Keller, Helen, Green, Philip, Helms, Cynthia, Cartinhour, Samuel, Weiffenbach, Barbara, Stephens, Karen, Keith, Tim P., Bowden, Donald W., Smith, Douglas R., Lander, Eric S., Botstein, David, Akots, Gita, Rediker, Kenneth S., Gravius, Thomas, Brown, Valerie A., Rising, Marcia B., Parker, Carol, Powers, Jody A., Watt, Diane E., Kauffman, Erick R., Bricker, Angela, Phipps, Pamela, Muller-Kahle, Hans, Fulton, Thomas R., Ng, Siu, Schumm, James W., Braman, Jeffrey C., Knowlton, Robert G., Barker, David F., Crooks, Steven M., Lincoln, Steven E., Daly, Mark J., Abrahamson, Jeff
Published in Cell (23.10.1987)
Published in Cell (23.10.1987)
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Effects of dehydration on isometric muscular strength and endurance
Greiwe, J S, Staffey, K S, Melrose, D R, Narve, M D, Knowlton, R G
Published in Medicine and science in sports and exercise (01.02.1998)
Published in Medicine and science in sports and exercise (01.02.1998)
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Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene
HOVNANIAN, A, DUQUESNOY, P, BLANCHET-BARDON, C, KNOWLTON, R. G, AMSELEM, S, LATHROP, M, DUBERTRET, L, UITTO, J, GOOSSENS, M
Published in The Journal of clinical investigation (01.09.1992)
Published in The Journal of clinical investigation (01.09.1992)
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Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils
RYYNÄNEN, M, RYYNÄNEN, J, SOLIBERG, S, IOZZO, R. V, KNOWLTON, R. G, UITTO, J
Published in The Journal of clinical investigation (01.03.1992)
Published in The Journal of clinical investigation (01.03.1992)
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A second mutation in the type II procollagen gene (COL2A1) causing Stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon
AHMAD, N. N, MCDONALD-MCGINN, D. M, ZACKAI, E. H, KNOWLTON, R. G, LAROSSA, D, DIMASCIO, J, PROCKOP, D. J
Published in American journal of human genetics (1993)
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Published in American journal of human genetics (1993)
Journal Article
Homozygosity Mapping of Achromatopsia to Chromosome 2 Using DNA Pooling
Arbour, Nancy C., Zlotogora, Joel, Knowlton, Robert G., Merin, Saul, Rosenmann, Ada, Kanis, Adam B., Rokhlina, Tatiana, Stone, Edwin M., Sheffield, Val C.
Published in Human molecular genetics (01.05.1997)
Published in Human molecular genetics (01.05.1997)
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Journal Article
Genetic Linkage of a Polymorphism in the Type II Procollagen Gene (COL2A1) to Primary Osteoarthritis Associated with Mild Chondrodysplasia
Knowlton, Robert G, Katzenstein, Paul L, Moskowitz, Roland W, Weaver, Eric J, Malemud, Charles J, Pathria, Mini N, Jimenez, Sergio A, Prockop, Darwin J
Published in The New England journal of medicine (22.02.1990)
Published in The New England journal of medicine (22.02.1990)
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Accuracy of RPE from graded exercise to establish exercise training intensity
Glass, S C, Knowlton, R G, Becque, M D
Published in Medicine and science in sports and exercise (01.11.1992)
Published in Medicine and science in sports and exercise (01.11.1992)
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A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7
Knowlton, R G, Cohen-Haguenauer, O, Van Cong, N, Frézal, J, Brown, V A, Barker, D, Braman, J C, Schumm, J W, Tsui, L C, Buchwald, M
Published in Nature (London) (28.11.1985)
Published in Nature (London) (28.11.1985)
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Mixed Hematopoietic Chimerism Following Bone Marrow Transplantation for Hematologic Malignancies
Petz, Lawrence D., Yam, Priscilla, Wallace, R. Bruce, Stock, A. Dean, Lange, Gerda de, Knowlton, Robert G., Brown, Valerie A., Donis-Keller, Helen, Hill, L. Robert, Forman, Stephen J., Blume, Karl G.
Published in Blood (01.11.1987)
Published in Blood (01.11.1987)
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Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene
KNOWLTON, R. G, WEAVER, E. J, STRUYK, A. F, KNOBLOCH, W. H, KING, R. A, NORRIS, K, SHAMBAN, A, UITTO, J, JIMENEZ, S. A, PROCKOP, D. J
Published in American journal of human genetics (01.11.1989)
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Published in American journal of human genetics (01.11.1989)
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Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). Genetic linkage to chromosome 12q in the region of the type II keratin gene cluster
Pulkkinen, L, Christiano, A M, Knowlton, R G, Uitto, J
Published in The Journal of clinical investigation (01.01.1993)
Published in The Journal of clinical investigation (01.01.1993)
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