Browsing by Author De Paepe, Anne

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
or enter first few letters:  
Showing results 1 to 7 of 7
Issue DateTitleAuthor(s)Citation
20167p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephalyBrescianini, Sally; Andrieux, Joris; De Paepe, Anne; Doumoto, Tomotsune; Edwards, Matthew; Narai, Satoshi; Petit, Florence; Sangu, Noriko; Shimojima, Keiko; Togawa, Masami; Vanakker, Olivier; Whitehall, John; Yamamoto, Toshiyuki; Not known7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly, European Journal of Medical Genetics; formerly Annales de Genetique (France) (0003-3995), vol.59, 10, 2016,pp 502-506
20167p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephalyBrescianini, Sally; Andrieux, Joris; De Paepe, Anne; Doumoto, Tomotsune; Edwards, Matthew; Narai, Satoshi; Petit, Florence; Sangu, Noriko; Shimojima, Keiko; Togawa, Masami; Vanakker, Olivier; Whitehall, John; Yamamoto, Toshiyuki; Not known7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly, European Journal of Medical Genetics; formerly Annales de Genetique (France) (0003-3995), vol.59, 10, 2016,pp 502-506
2010Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiencyAdes, Lesley; Baspinar, Osman; Callewaert, B; Coucke, P.; Dasouki, Majed; De Paepe, Anne; Dietz, Harry C; Earing, Michael; Holm, Tammy; Hoyer, Juliane; Loeys, B; Pickart, Angela; Rauch, Anita; Renard, Marjolijn; Sakai, Lynn; Trapane, Pamela; Veith, Regan; Children's Hospital Westmead: Paediatrics & Child HealthAltered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency, European Journal of Human Genetics, vol.18, 8,pp 895-901
2008Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probandsAdes, Lesley; Arbustini, E; Arslan-Kirchner, M.; Beroud, C.; Binquet, C; Boileau, C.; Bonithon-Kopp, C.; Callewaert, B; Child,, A; Claustres, M.; Collod-Beroud, G; Comeglio, Paolo; Coucke, P.; De Backer, J.; De Paepe, Anne; Faivre, L; Francke, U.; Gautier, E; Halliday, D.; Jondeau, G.; Kiotsekoglou, A.; Loeys, B; Marziliano, N; Mayer, K; Plauchu, H.; Robinson, P. N.; Stheneur, C.; Children's Hospital Westmead: Paediatrics & Child HealthContribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands, Journal of Medical Genetics, vol.45, 6, 2008,pp 384-390
2004Novel Types Of Mutation Responsible For The Dermatosparactic Type Of Ehlers-Danlos Syndrome (Type Viic) And Common Polymorphisms In The Adamts2 Gene.Ades, Lesley; Colige, Alain; De Paepe, Anne; et, al; Franck, Peter; Hausser, Ingrid; Herens, Christian; Malfait, Fransiska; Nuytinck, Lieve; Thiry, Marc; van Essen, Anthonie J.; Children's Hospital Westmead: Paediatrics & Child HealthNovel Types Of Mutation Responsible For The Dermatosparactic Type Of Ehlers-Danlos Syndrome (Type Viic) And Common Polymorphisms In The Adamts2 Gene., THE JOURNAL OF INVESTIGATIVE DERMATOLOGY 2005, vol.123,(4),2004,pp 656-663
2011Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 YearAdes, Lesley; Arbustini, E; Arslan-Kirchner, M.; Binquet, C; Boileau, Catherine; Bonithon-Kopp, Claire; Bonnet, Damien; Chevallier, Bertrand; Child, Anne; Claustres, M.; Collod-Beroud, Gwenaelle; De Paepe, Anne; Faivre, Laurence; Francke, U.; Gautier, E; Jondeau, G.; Mayer, K; Stheneur, C.; Children's Hospital Westmead: Paediatrics & Child HealthPrognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year, Pediatric Research: international journal of human developmental biology, vol.69, 3, 2011,pp 265-270
2003Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism databaseAdes, Lesley; Ala-Kokko, Leena; Booms, Patrick; Boxer, Maureen; Child, Anne; Collod-Beroud, Gwenaelle; Comeglio, Paolo; De Paepe, Anne; et, al; Holman, Katerine; Hyland, James C; Le Bourdelles, Saga; Children's Hospital Westmead: Paediatrics & Child HealthUpdate of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database, Human Mutation, vol.22,(3),2003,pp 199-208