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Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics Bieber, Frederick R.; Cherry, Athena M.; Emanuel, Beverly S.; Francke, Uta; Hoyme, H. Eugene; Jackson, Laird G.; Morton, Cynthia C.; Muenke, Maximillian; Powell, Cynthia M.; Punnett, Hope H.; Rao, P. Nagesh; Schwartz, Stuart; Stevenson, Roger E.; Van Dyke, Daniel L. 分享 收藏
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A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci Hinds, David A.; McMahon, George; Kiefer, Amy K.; Do, Chuong B.; Eriksson, Nicholas; Evans, David M.; St Pourcain, Beate; Ring, Susan M.; Mountain, Joanna L.; Francke, Uta; Davey-Smith, George; Timpson, Nicholas J.; Tung, Joyce Y. 分享 收藏
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Reduction of NADPH-Oxidase Activity Ameliorates the Cardiovascular Phenotype in a Mouse Model of Williams-Beuren Syndrome Campuzano, Victoria; Segura-Puimedon, Maria; Terrado, Verena; Sanchez-Rodriguez, Carolina; Coustets, Mathilde; Menacho-Marquez, Mauricio; Nevado, Julian; Bustelo, Xose R.; Francke, Uta; Perez-Jurado, Luis A. 分享 收藏
Skeletogenic phenotype of human Marfan embryonic stem cells faithfully phenocopied by patient-specific induced-pluripotent stem cells Quarto, Natalina; Leonard, Brian; Li, Shuli; Marchand, Melanie; Anderson, Erica; Behr, Barry; Francke, Uta; Reijo-Pera, Renee; Chiao, Eric; Longaker, Michael T. 分享 收藏
Web-Based Genome-Wide Association Study Identifies Two Novel Loci and a Substantial Genetic Component for Parkinson's Disease Do, Chuong B.; Tung, Joyce Y.; Dorfman, Elizabeth; Kiefer, Amy K.; Drabant, Emily M.; Francke, Uta; Mountain, Joanna L.; Goldman, Samuel M.; Tanner, Caroline M.; Langston, J. William; Wojcicki, Anne; Eriksson, Nicholas 分享 收藏
Control of bone formation by the serpentine receptor Frizzled-9 Albers, Joachim; Schulze, Jochen; Beil, F. Timo; Gebauer, Matthias; Baranowsky, Anke; Keller, Johannes; Marshall, Robert P.; Wintges, Kristofer; Friedrich, Felix W.; Priemel, Matthias; Schilling, Arndt F.; Rueger, Johannes M.; Cornils, Kerstin; Fehse, Boris; Streichert, Thomas; Sauter, Guido; Jakob, Franz; Insogna, Karl L.; Pober, Barbara; Knobeloch, Klaus-Peter; Francke, Uta; Amling, Michael; Schinke, Thorsten 分享 收藏
Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year Stheneur, Chantal; Faivre, Laurence; Collod-Beroud, Gwenaelle; Gautier, Elodie; Binquet, Christine; Bonithon-Kopp, Claire; Claustres, Mireille; Child, Anne H.; Arbustini, Eloisa; Ades, Lesley C.; Francke, Uta; Mayer, Karin; Arslan-Kirchner, Mine; De Paepe, Anne; Chevallier, Bertrand; Bonnet, Damien; Jondeau, Guillaume; Boileau, Catherine 分享 收藏
Cardiovascular manifestations in men and women carrying a FBN1 mutation Detaint, Delphine; Faivre, Laurence; Collod-Beroud, Gwenaelle; Child, Anne H.; Loeys, Bart L.; Binquet, Christine; Gautier, Elodie; Arbustini, Eloisa; Mayer, Karin; Arslan-Kirchner, Mine; Stheneur, Chantal; Halliday, Dorothy; Beroud, Christophe; Bonithon-Kopp, Claire; Claustres, Mireille; Plauchu, Henri; Robinson, Peter N.; Kiotsekoglou, Anatoli; De Backer, Julie; Ades, Lesley; Francke, Uta; De Paepe, Anne; Boileau, Catherine; Jondeau, Guillaume 分享 收藏
Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice Li, Hong Hua; Roy, Madhuri; Kuscuoglu, Unsal; Spencer, Corinne M.; Halm, Birgit; Harrison, Katharine C.; Bayle, Joseph H.; Splendore, Alessandra; Ding, Feng; Meltzer, Leslie A.; Wright, Elena; Paylor, Richard; Deisseroth, Karl; Francke, Uta 分享 收藏
Clinical and Molecular Study of 320 Children With Marfan Syndrome and Related Type I Fibrillinopathies in a Series of 1009 Probands With Pathogenic FBN1 Mutations Faivre, Laurence; Masurel-Paulet, Alice; Collod-Beroud, Gwenaelle; Callewaert, Bert L.; Child, Anne H.; Stheneur, Chantal; Binquet, Christine; Gautier, Elodie; Chevallier, Bertrand; Huet, Frederic; Loeys, Bart L.; Arbustini, Eloisa; Mayer, Karin; Arslan-Kirchner, Mine; Kiotsekoglou, Anatoli; Comeglio, Paolo; Grasso, Maurizia; Halliday, Dorothy J.; Beroud, Christophe; Bonithon-Kopp, Claire; Claustres, Mireille; Robinson, Peter N.; Ades, Lesley; De Backer, Julie; Coucke, Paul; Francke, Uta; De Paepe, Anne; Boileau, Catherine; Jondeau, Guillaume 分享 收藏
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation Faivre, L.; Collod-Beroud, G.; Callewaert, B.; Child, A.; Binquet, C.; Gautier, E.; Loeys, B. L.; Arbustini, E.; Mayer, K.; Arslan-Kirchner, M.; Stheneur, C.; Kiotsekoglou, A.; Comeglio, P.; Marziliano, N.; Wolf, J. E.; Bouchot, O.; Khau-Van-Kien, P.; Beroud, C.; Claustres, M.; Bonithon-Kopp, C.; Robinson, P. N.; Ades, L.; De Backer, J.; Coucke, P.; Francke, U.; De Paepe, A.; Jondeau, G.; Boileau, C. 分享 收藏
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies:: an international study of 1009 probands Faivre, L.; Collod-Beroud, G.; Child, A.; Callewaert, B.; Loeys, B. L.; Binquet, C.; Gautier, E.; Arbustini, E.; Mayer, K.; Arslan-Kirchner, M.; Stheneur, C.; Kiotsekoglou, A.; Comeglio, P.; Marziliano, N.; Halliday, D.; Beroud, C.; Bonithon-Kopp, C.; Claustres, M.; Plauchu, H.; Robinson, P. N.; Ades, L.; De Backer, J.; Coucke, P.; Francke, U.; De Paepe, A.; Boileau, C.; Jondeau, G. 分享 收藏
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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 Faivre, L.; Collod-Beroud, G.; Loeys, B. L.; Child, A.; Binquet, C.; Gautier, E.; Callewaert, B.; Arbustini, E.; Mayer, K.; Arslan-Kirchner, M.; Kiotsekoglou, A.; Comeglio, P.; Marziliano, N.; Dietz, H. C.; Halliday, D.; Beroud, C.; Bonithon-Kopp, C.; Claustres, M.; Muti, C.; Plauchu, H.; Robinson, P. N.; Ades, L. C.; Biggin, A.; Benetts, B.; Brett, M.; Holman, K. J.; De Backer, J.; Coucke, P.; Francke, U.; De Paepe, A.; Jondeau, G.; Boileau, C. 分享 收藏
An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism Edelmann, Lisa; Prosnitz, Aaron; Pardo, Sherly; Bhatt, Jahnavi; Cohen, Ninette; Lauriat, Tara; Ouchanov, Leonid; Gonzalez, Patricia J.; Manghi, Elina R.; Bondy, Pamela; Esquivel, Marcela; Monge, Silvia; Delgado, Marietha F.; Splendore, Alessandra; Francke, Uta; Burton, Barbara K.; McInnes, L. Alison 分享 收藏
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