Syndromes of disordered chromatin remodeling
Ausió, J, Levin, DB, De Amorim, GV, Bakker, S, Macleod, PM
Published in Clinical genetics (01.08.2003)
Published in Clinical genetics (01.08.2003)
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SETD1A variant-associated psychosis: A systematic review of the clinical literature and description of two new cases
Colijn, Mark A., Carrion, Prescilla, Poirier-Morency, Guillaume, Rogic, Sanja, Torres, Ivan, Menon, Mahesh, Lisonek, Michelle, Cook, Courtney, DeGraaf, Ashley, Thammaiah, Subramanya Ponnachana, Neelakant, Harish, Willaeys, Veerle, Leonova, Olga, White, Randall F., Yip, Stephen, Mungall, Andrew J., MacLeod, Patrick M., Gibson, William T., Sullivan, Patrick F., Honer, William G., Pavlidis, Paul, Stowe, Robert M.
Published in Progress in neuro-psychopharmacology & biological psychiatry (08.02.2024)
Published in Progress in neuro-psychopharmacology & biological psychiatry (08.02.2024)
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Journal Article
Early Gastric Cancer in Young, Asymptomatic Carriers of Germ-Line E-Cadherin Mutations
Huntsman, David G, Carneiro, Fatima, Lewis, Frank R, MacLeod, Patrick M, Hayashi, Allen, Monaghan, Kristin G, Maung, Raymond, Seruca, Raquel, Jackson, Charles E, Caldas, Carlos
Published in The New England journal of medicine (21.06.2001)
Published in The New England journal of medicine (21.06.2001)
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Journal Article
Inherited Mutations in PTEN That Are Associated with Breast Cancer, Cowden Disease, and Juvenile Polyposis
Lynch, Eric D., Ostermeyer, Elizabeth A., Lee, Ming K., Arena, J. Fernando, Ji, HanLee, Dann, Jamie, Swisshelm, Karen, Suchard, David, MacLeod, Patrick M., Kvinnsland, Stener, Gjertsen, Bjorn Tore, Heimdal, Ketil, Lubs, Herb, Møller, Pål, King, Mary-Claire
Published in American journal of human genetics (01.12.1997)
Published in American journal of human genetics (01.12.1997)
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Journal Article
Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme
Brown, N F, Mullur, R S, Subramanian, I, Esser, V, Bennett, M J, Saudubray, J M, Feigenbaum, A S, Kobari, J A, Macleod, P M, McGarry, J D, Cohen, J C
Published in Journal of lipid research (01.07.2001)
Published in Journal of lipid research (01.07.2001)
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Journal Article
A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD
Boycott, Kym M., Parslow, Malcolm I., Ross, Judith L., Miller, Ivan P., Bech‐Hansen, N. Torben, MacLeod, Patrick M.
Published in American journal of medical genetics. Part A (01.10.2003)
Published in American journal of medical genetics. Part A (01.10.2003)
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Journal Article
Clinical stringency greatly improves mutation detection in Rett syndrome
Gauthier, Julie, de Amorim, Giovana, Mnatzakanian, Gevork N, Saunders, Carol, Vincent, John B, Toupin, Sylvie, Kauffman, David, St-Onge, Judith, Laurent, Sandra, Macleod, Patrick M, Minassian, Berge A, Rouleau, Guy A
Published in Canadian journal of neurological sciences (01.08.2005)
Published in Canadian journal of neurological sciences (01.08.2005)
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Journal Article
Rett syndrome: investigation of nine patients, including PET scan
Dunn, Henry G, Stoessl, A Jon, Ho, Helena H, MacLeod, Patrick M, Poskitt, Kenneth J, Doudet, Doris J, Schulzer, Michael, Blackstock, Derek, Dobko, Teresa, Koop, Ben, de Amorim, Giovana V
Published in Canadian journal of neurological sciences (01.11.2002)
Published in Canadian journal of neurological sciences (01.11.2002)
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Journal Article
Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus
Twist, E C, Casaubon, L K, Ruttledge, M H, Rao, V S, Macleod, P M, Radvany, J, Zhao, Z, Rosenberg, R N, Farrer, L A, Rouleau, G A
Published in Journal of medical genetics (01.01.1995)
Published in Journal of medical genetics (01.01.1995)
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Journal Article
Machado Joseph disease is not an allele of the spinocerebellar ataxia 2 locus
Twist, E C, Farrer, L A, Macleod, P M, Radvany, J, Chamberlain, S, Rosenberg, R N, Rouleau, G A
Published in Human genetics (01.03.1994)
Published in Human genetics (01.03.1994)
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Journal Article
The Machado-Joseph disease locus is different from the spinocerebellar ataxia locus (SCA1)
Carson, Wendy J., Radvany, Joao, Farrer, Lindsay A., Vincent, Dominique, Rosenberg, Roger N., MacLeod, Patrick M., Rouleau, Guy A.
Published in Genomics (San Diego, Calif.) (01.07.1992)
Published in Genomics (San Diego, Calif.) (01.07.1992)
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