Malignant transformation of oral epithelial dysplasia: a real-world evaluation of histopathologic grading
Dost, F., BOralH, MPhil, Lê Cao, K., PhD, MSc, Ford, P.J., BDSc(Hons), BDentSt, PhD, GCHEd, Ades, C., MBBS, FRCPA, Farah, C.S., BDSc, MDSc, PhD, FRACDS (OralMed)
Published in Oral surgery, oral medicine, oral pathology and oral radiology (01.03.2014)
Published in Oral surgery, oral medicine, oral pathology and oral radiology (01.03.2014)
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A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction
Gold, Wendy A., Sobreira, Nara, Wiame, Elsa, Marbaix, Alexandre, Van Schaftingen, Emile, Franzka, Patricia, Riley, Lisa G., Worgan, Lisa, Hübner, Christian A., Christodoulou, John, Adès, Lesley C.
Published in American journal of medical genetics. Part A (01.08.2017)
Published in American journal of medical genetics. Part A (01.08.2017)
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Racial Disparities in Blood Pressure at Time of Acute Ischemic Stroke Presentation: A Population Study
Aziz, Yasmin N, Sucharew, Heidi, Stanton, Robert J, Alwell, Kathleen, Ferioli, Simona, Khatri, Pooja, Adeoye, Opeolu, Flaherty, Matthew L, Mackey, Jason, De Los Rios La Rosa, Felipe, Martini, Sharyl R, Mistry, Eva A, Coleman, Elisheva, Jasne, Adam S, Slavin, Sabreena J, Walsh, Kyle, Star, Michael, Ridha, Mohamed, Ades, Laura M C, Haverbusch, Mary, Demel, Stacie L, Woo, Daniel, Kissela, Brett M, Kleindorfer, Dawn O
Published in Journal of the American Heart Association (07.05.2024)
Published in Journal of the American Heart Association (07.05.2024)
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Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients
Roscioli, T., Elakis, G., Cox, T.C., Moon, D.J., Venselaar, H., Turner, A.M., Le, T., Hackett, E., Haan, E., Colley, A., Mowat, D., Worgan, L., Kirk, E.P., Sachdev, R., Thompson, E., Gabbett, M., McGaughran, J., Gibson, K., Gattas, M., Freckmann, M-L., Dixon, J., Hoefsloot, L., Field, M., Hackett, A., Kamien, B., Edwards, M., Adès, L.C., Collins, F.A., Wilson, M.J., Savarirayan, R., Tan, T.Y., Amor, D.J., McGIllivray, G., White, S.M., Glass, I.A., David, D.J., Anderson, P.J., Gianoutsos, M., Buckley, M.F.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.11.2013)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.11.2013)
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FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited
Adès, L.C., Sullivan, K., Biggin, A., Haan, E.A., Brett, M., Holman, K.J., Dixon, J., Robertson, S., Holmes, A.D., Rogers, J., Bennetts, B.
Published in American journal of medical genetics. Part A (15.05.2006)
Published in American journal of medical genetics. Part A (15.05.2006)
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Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection
Renard, Marjolijn, Francis, Catherine, Ghosh, Rajarshi, Scott, Alan F., Witmer, P. Dane, Adès, Lesley C., Andelfinger, Gregor U., Arnaud, Pauline, Boileau, Catherine, Callewaert, Bert L., Guo, Dongchuan, Hanna, Nadine, Lindsay, Mark E., Morisaki, Hiroko, Morisaki, Takayuki, Pachter, Nicholas, Robert, Leema, Van Laer, Lut, Dietz, Harry C., Loeys, Bart L., Milewicz, Dianna M., De Backer, Julie
Published in Journal of the American College of Cardiology (07.08.2018)
Published in Journal of the American College of Cardiology (07.08.2018)
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Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23
Mowat, D R, Croaker, G D, Cass, D T, Kerr, B A, Chaitow, J, Adès, L C, Chia, N L, Wilson, M J
Published in Journal of medical genetics (01.08.1998)
Published in Journal of medical genetics (01.08.1998)
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Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome
Maclean, Kenneth, Smith, James, Heaps, Luke St, Chia, Nicole, Williams, Rebecca, Peters, Gregory B., Onikul, Ella, McCrossin, Tim, Lehmann, Ordan J., Adès, Lesley C.
Published in American journal of medical genetics. Part A (01.02.2005)
Published in American journal of medical genetics. Part A (01.02.2005)
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Ectopia lentis phenotypes and the FBN1 gene
Adès, Lesley C., Holman, Katherine J., Brett, Maggie S., Edwards, Matthew J., Bennetts, Bruce
Published in American journal of medical genetics. Part A (30.04.2004)
Published in American journal of medical genetics. Part A (30.04.2004)
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First‐Line Treatment of Symptomatic Subocclusive Large‐Vessel Stroke: Results of a Nationwide StrokeNet Survey
Aziz, Yasmin N., Harker, Pablo, Ayala, Felipe, Ades, Laura M.C., Vagal, Vaibhav, Khatri, Pooja
Published in Stroke: vascular and interventional neurology (01.07.2024)
Published in Stroke: vascular and interventional neurology (01.07.2024)
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FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation
Chizhikov, Victor V, Krantz, Ian D, Aldinger, Kimberly A, Hudgins, Louanne, Dobyns, William B, Millen, Kathleen J, Lehmann, Ordan J, Bassuk, Alexander G, Ades, Lesley C
Published in Nature genetics (01.09.2009)
Published in Nature genetics (01.09.2009)
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International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium)
Jondeau, Guillaume, Ropers, Jacques, Regalado, Ellen, Braverman, Alan, Evangelista, Arturo, Teixedo, Guisela, De Backer, Julie, Muiño-Mosquera, Laura, Naudion, Sophie, Zordan, Cecile, Morisaki, Takayuki, Morisaki, Hiroto, Von Kodolitsch, Yskert, Dupuis-Girod, Sophie, Morris, Shaine A, Jeremy, Richmond, Odent, Sylvie, Adès, Leslie C, Bakshi, Madhura, Holman, Katherine, LeMaire, Scott, Milleron, Olivier, Langeois, Maud, Spentchian, Myrtille, Aubart, Melodie, Boileau, Catherine, Pyeritz, Reed, Milewicz, Dianna M
Published in Circulation. Cardiovascular genetics (01.12.2016)
Published in Circulation. Cardiovascular genetics (01.12.2016)
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Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis
Ewans, Lisa J, Minoche, Andre E, Schofield, Deborah, Shrestha, Rupendra, Puttick, Clare, Zhu, Ying, Drew, Alexander, Gayevskiy, Velimir, Elakis, George, Walsh, Corrina, Adès, Lesley C, Colley, Alison, Ellaway, Carolyn, Evans, Carey-Anne, Freckmann, Mary-Louise, Goodwin, Linda, Hackett, Anna, Kamien, Benjamin, Kirk, Edwin P, Lipke, Michelle, Mowat, David, Palmer, Elizabeth, Rajagopalan, Sulekha, Ronan, Anne, Sachdev, Rani, Stevenson, William, Turner, Anne, Wilson, Meredith, Worgan, Lisa, Morel-Kopp, Marie-Christine, Field, Michael, Buckley, Michael F, Cowley, Mark J, Dinger, Marcel E, Roscioli, Tony
Published in European journal of human genetics : EJHG (01.10.2022)
Published in European journal of human genetics : EJHG (01.10.2022)
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Predicting the HER2 status of breast cancer from basic histopathology data: an analysis of 1500 breast cancers as part of the HER2000 International Study
Bilous, M, Ades, C, Armes, J, Bishop, J, Brown, R, Cooke, B, Cummings, M, Farshid, G, Field, A, Morey, A, McKenzie, P, Raymond, W, Robbins, P, Tan, L
Published in Breast (Edinburgh) (01.04.2003)
Published in Breast (Edinburgh) (01.04.2003)
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Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders
Evesson, Frances J, Dziaduch, Gregory, Bryen, Samantha J, Moore, Francesca, Pittman, Sara, Devanapalli, Beena, Waddell, Leigh B, Ryan, Monique M, Menezes, Manoj P, Weihl, Conrad C, Tolun, Adviye Ayper, Zaidman, Craig, Young, Helen, Adès, Lesley C, Cooper, Sandra T
Published in Human molecular genetics (05.06.2023)
Published in Human molecular genetics (05.06.2023)
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Ten novel FBN2 mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype
Gupta, Prateek A., Putnam, Elizabeth A., Carmical, Sonya G., Kaitila, Ilkka, Steinmann, Beat, Child, Anne, Danesino, Cesare, Metcalfe, Kay, Berry, Susan A., Chen, Emily, Delorme, Catherine Vincent, Thong, Meow-Keong, Adès, Lesley C., Milewicz, Dianna M.
Published in Human mutation (01.01.2002)
Published in Human mutation (01.01.2002)
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Environmental enrichment for maned wolves (Chrysocyon brachyurus): group and individual effects
Vasconcellos, A.S, Guimaraes, M.A.B.V, Oliveira, C.A, Pizzutto, C.S, Ades, C
Published in Animal welfare (01.08.2009)
Published in Animal welfare (01.08.2009)
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Journal Article
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome
MUENKE, M, GRIPP, K. W, LOSKEN, H. W, MULLIKEN, J. B, GUTTMACHER, A. E, WILROY, R. S, CLARKE, L. A, HOLLWAY, G, ADES, L. C, HAAN, E. A, MULLEY, J. C, COHEN, M. M, MCDONALD-MCGINN, D. M, BELLUS, G. A, FRANCOMANO, C. A, MOLONEY, D. M, WALL, S. A, WILKIE, A. O. M, ZACKAI, E. H, GAUDENZ, K, WHITAKER, L. A, BARTLETT, S. P, MARKOWITZ, R. I, ROBIN, N. H, NWOKORO, N, MULVIHILL, J. J
Published in American journal of human genetics (01.03.1997)
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Published in American journal of human genetics (01.03.1997)
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Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis
Lacombe, Didier, David, Albert, Jeffs, Aaron, Bohring, Axel, Tchan, Michel, Wilson, Louise C, Pearl, Esther, Cormier-Daire, Valérie, Hing, Anne V, Adès, Lesley C, Stewart, Fiona, Porteous, Mary E, Garcia-Miñaur, Sixto, Robertson, Stephen P, Jenkins, Zandra A, Fukuzawa, Ryuji, Hennekam, Raoul C M, Morgan, Tim, Bindoff, Laurence, Donnai, Dian, Fiskerstrand, Torunn, Mansour, Sahar, Berland, Siren, Thaller, Christina, van Kogelenberg, Margriet
Published in Nature genetics (01.01.2009)
Published in Nature genetics (01.01.2009)
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Journal Article
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype
Van Bon, Bregje W M, Koolen, David A, Brueton, Louise, Mcmullan, Dominic, Lichtenbelt, Klaske D, Adès, Lesley C, Peters, Gregory, Gibson, Kate, Moloney, Susan, Novara, Francesca, Pramparo, Tiziano, Bernardina, Bernardo Dalla, Zoccante, Leonardo, Balottin, Umberto, Piazza, Fausta, Pecile, Vanna, Gasparini, Paolo, Guerci, Veronica, Kets, Marleen, Pfundt, Rolph, De Brouwer, Arjan P, Veltman, Joris A, De Leeuw, Nicole, Wilson, Meredith, Antony, Jayne, Reitano, Santina, Luciano, Daniela, Fichera, Marco, Romano, Corrado, Brunner, Han G, Zuffardi, Orsetta, De Vries, Bert Ba
Published in European journal of human genetics : EJHG (01.10.2010)
Published in European journal of human genetics : EJHG (01.10.2010)
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