P
P Comeglio
Researcher at St George's Hospital
Publications - 9
Citations - 1248
P Comeglio is an academic researcher from St George's Hospital. The author has contributed to research in topics: Mutation (genetic algorithm) & Marfan syndrome. The author has an hindex of 8, co-authored 9 publications receiving 1142 citations.
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Journal ArticleDOI
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
Laurence Faivre,Gwenaëlle Collod-Béroud,Gwenaëlle Collod-Béroud,Bart Loeys,Anne H. Child,Christine Binquet,Elodie Gautier,Bert Callewaert,Eloisa Arbustini,Kenneth H. Mayer,Mine Arslan-Kirchner,A Kiotsekoglou,P Comeglio,Nicola Marziliano,Hal Dietz,Dorothy Halliday,Christophe Béroud,Christophe Béroud,Claire Bonithon-Kopp,Mireille Claustres,Christine Muti,H. Plauchu,Peter N. Robinson,Lesley C. Adès,Andrew Biggin,B. Benetts,Maggie Brett,Katherine Holman,J. De Backer,Paul Coucke,Uta Francke,A. De Paepe,Guillaume Jondeau,Catherine Boileau +33 more
TL;DR: In this paper, the authors investigated the correlation between the fibrillin-1 (FBN1) genotype and the nature and severity of the clinical phenotype, including skeletal, cardiovascular, ophthalmologic, skin, pulmonary, and dural.
Journal ArticleDOI
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.
Gwenaëlle Collod-Béroud,Saga Le Bourdelles,Lesley C. Adès,Lesley C. Adès,Leena Ala-Kokko,Leena Ala-Kokko,Patrick Booms,Maureen Boxer,Anne H. Child,P Comeglio,Anne De Paepe,James C. Hyland,Katerine Holman,Ilkka Kaitila,Bart Loeys,Gabor Matyas,L Nuytinck,Leena Peltonen,Terhi Rantamäki,Peter N. Robinson,Beat Steinmann,Claudine Junien,Christophe Béroud,Catherine Boileau +23 more
TL;DR: The FBN1 mutation database has recently been modified to follow the guidelines on mutation databases of the HUGO Mutation Database Initiative (MDI) and the Human Genome Variation Society (HGVS), including their approved mutation nomenclature.
Journal ArticleDOI
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.
Laurence Faivre,Alice Masurel-Paulet,Gwenaëlle Collod-Béroud,Bert Callewaert,Anne H. Child,Chantal Stheneur,Christine Binquet,Elodie Gautier,Bertrand Chevallier,Frédéric Huet,Bart Loeys,Eloisa Arbustini,Karin Mayer,Mine Arslan-Kirchner,Anatoli Kiotsekoglou,P Comeglio,Maurizia Grasso,Dorothy Halliday,Christophe Béroud,Claire Bonithon-Kopp,Mireille Claustres,Peter N. Robinson,Lesley C. Adès,Julie De Backer,Paul Coucke,Uta Francke,Anne De Paepe,Catherine Boileau,Guillaume Jondeau +28 more
TL;DR: It is confirmed that the majority of clinical manifestations of Marfan syndrome increase with age, which emphasizes the poor applicability of the international criteria to this diagnosis in childhood and the need for follow-up monitoring in cases of clinical suspicion of Mar fan syndrome.
Journal ArticleDOI
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands
Laurence Faivre,Gwenaëlle Collod-Béroud,Anne H. Child,Bert Callewaert,Bart Loeys,Christine Binquet,Elodie Gautier,Eloisa Arbustini,Karin Mayer,Mine Arslan-Kirchner,Chantal Stheneur,A Kiotsekoglou,P Comeglio,Nicola Marziliano,Dorothy Halliday,Christophe Béroud,Claire Bonithon-Kopp,Mireille Claustres,H. Plauchu,Peter N. Robinson,Lesley C. Adès,J. De Backer,Paul Coucke,Uta Francke,A De Paepe,Catherine Boileau,Guillaume Jondeau +26 more
TL;DR: Because of its implications for aortic follow-up, FBN1 molecular analysis is recommended in newly suspected MFS when two systems are involved with at least one major system affected.
Journal ArticleDOI
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.
Laurence Faivre,Gwenaëlle Collod-Béroud,Bert Callewaert,Anne H. Child,Christine Binquet,Elodie Gautier,Bart Loeys,Bart Loeys,Eloisa Arbustini,Karin Mayer,Mine Arslan-Kirchner,Chantal Stheneur,A Kiotsekoglou,P Comeglio,Nicola Marziliano,Jean-Eric Wolf,O Bouchot,P Khau-Van-Kien,Christophe Béroud,Mireille Claustres,Claire Bonithon-Kopp,Peter N. Robinson,Lesley C. Adès,Lesley C. Adès,J. De Backer,Paul Coucke,Uta Francke,A. De Paepe,Guillaume Jondeau,Catherine Boileau +29 more
TL;DR: Even if the exons 24–32 location appears as a major cause of the severity of the phenotype in patients with a mutation in this region, other factors such as the type of mutation or modifier genes might also be relevant.