Paul Coucke conducts interdisciplinary study in the fields of Genetics and Cancer research through his works. Paul Coucke performs integrative Cancer research and Genetics research in his work. He performs integrative study on Gene and Transforming growth factor beta. Paul Coucke merges Phenotype with Genetic heterogeneity in his research. Paul Coucke merges many fields, such as Genetic heterogeneity and Phenotype, in his writings. He connects Internal medicine with Pediatrics in his research. Paul Coucke connects Pediatrics with Internal medicine in his study. He carries out multidisciplinary research, doing studies in Missense mutation and Proband. While working on this project, he studies both Proband and Missense mutation.
His Mutation study is focused on Missense mutation and Proband. Paul Coucke connects Gene with Phenotype in his study. Paul Coucke performs integrative study on Genetics and Anatomy. In his papers, Paul Coucke integrates diverse fields, such as Anatomy and Genetics. His Internal medicine study frequently intersects with other fields, such as Marfan syndrome. Marfan syndrome and Internal medicine are commonly linked in his work. In his works, Paul Coucke undertakes multidisciplinary study on Audiology and Hearing loss. In his work, he performs multidisciplinary research in Hearing loss and Audiology. His work often combines Molecular biology and Mutation studies.
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A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
Bart L Loeys;Junji Chen;Enid R Neptune;Daniel P Judge.
Nature Genetics (2005)
Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor
Bart L. Loeys;Bart L. Loeys;Ulrike Schwarze;Tammy Holm;Bert L. Callewaert.
The New England Journal of Medicine (2006)
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans
Joan C. Marini;Antonella Forlino;Antonella Forlino;Wayne A. Cabral;Aileen M. Barnes.
Human Mutation (2007)
Effect of mutation type and location on clinical outcome in 1,013 probands with marfan syndrome or related phenotypes and FBN1 mutations : An international study
L. Faivre;G. Collod-Beroud;G. Collod-Beroud;B.L. Loeys;A. Child.
American Journal of Human Genetics (2007)
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.
Jan Hellemans;Olena Preobrazhenska;Andy Willaert;Philippe Debeer.
Nature Genetics (2004)
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
Edgar A. Otto;Bart Loeys;Hemant Khanna;Jan Hellemans.
Nature Genetics (2005)
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome
Paul J Coucke;Andy Willaert;Marja W Wessels;Bert Callewaert.
Nature Genetics (2006)
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa
Bart Loeys;Lionel Van Maldergem;Geert Mortier;Paul Coucke.
Human Molecular Genetics (2002)
Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.
B. Loeys;J. De Backer;P. Van Acker;K. Wettinck.
Human Mutation (2004)
Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome
B. L. Loeys;B. L. Loeys;E. E. Gerber;D. Riegert-Johnson;S. Iqbal.
Science Translational Medicine (2010)
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