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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Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia
Cohn, D H, Briggs, M D, King, L M, Rimoin, D L, Wilcox, W R, Lachman, R S, Knowlton, R G
Published in Annals of the New York Academy of Sciences (01.06.1996)
Published in Annals of the New York Academy of Sciences (01.06.1996)
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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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Journal Article
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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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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Journal Article
Stickler syndrome. A mutation in the nonhelical 3' end of type II procollagen gene
Ahmad, N N, Dimascio, J, Knowlton, R G, Tasman, W S
Published in Archives of ophthalmology (1960) (01.11.1995)
Published in Archives of ophthalmology (1960) (01.11.1995)
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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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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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Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia
Loughlin, John, Irven, Catherine, Mustafa, Zehra, Briggs, Michael D., Carr, Andrew, Lynch, Sally-Ann, Knowlton, Robert G., Cohn, Daniel H., Sykes, Bryan
Published in Human mutation (1998)
Published in Human mutation (1998)
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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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Journal Article
Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1)
Williams, C J, Considine, E L, Knowlton, R G, Reginato, A, Neumann, G, Harrison, D, Buxton, P, Jimenez, S, Prockop, D J
Published in Human genetics (01.11.1993)
Published in Human genetics (01.11.1993)
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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
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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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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Use of Highly Polymorphic DNA Probes for Genotypic Analysis Following Bone Marrow Transplantation
Knowlton, Robert G., Brown, Valerie A., Braman, Jeffrey C., Barker, David, Schumm, James W., Murray, Christine, Takvorian, Tak, Ritz, Jerome, Donis-Keller, Helen
Published in Blood (01.08.1986)
Published in Blood (01.08.1986)
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