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; Gwenaelle Collod-Beroud; Bert L. Callewaert; Anne H. Child; Chantal Stheneur; Christine Binquet; Elodie Gautier; Bertrand Chevallier; Frédéric Huet; Bart L. Loeys; Eloisa Arbustini; Karin Mayer; Mine Arslan-Kirchner; Anatoli Kiotsekoglou; Paolo Comeglio; Maurizia Grasso; Dorothy J. Halliday; Christophe Beroud; Claire Bonithon-Kopp; Mireille Claustres; Peter N. Robinson; Lesley Adés; Julie De Backer; Paul Coucke; Uta Francke; Anne De Paepe; Catherine Boileau; Guillaume Jondeau

doi:10.1542/peds.2008-0703

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, Gwenaelle Collod-Beroud, Bert L. Callewaert, Anne H. Child, Chantal Stheneur, Christine Binquet, Elodie Gautier, Bertrand Chevallier, Frédéric Huet, Bart L. Loeys, Eloisa Arbustini, Karin Mayer, Mine Arslan-Kirchner, Anatoli Kiotsekoglou, Paolo Comeglio, Maurizia Grasso, Dorothy J. Halliday, Christophe Beroud, Claire Bonithon-KoppMireille Claustres, Peter N. Robinson, Lesley Adés, Julie De Backer, Paul Coucke, Uta Francke, Anne De Paepe, Catherine Boileau, Guillaume Jondeau

IRCCS Fondazione Policlinico San Matteo

Research output: Contribution to journal › Article › peer-review

Abstract

From a large series of 1009 probands with pathogenic FBN1 mutations, data for 320 patients

Original language	English
Pages (from-to)	391-398
Number of pages	8
Journal	Pediatrics
Volume	123
Issue number	1
DOIs	https://doi.org/10.1542/peds.2008-0703
Publication status	Published - Jan 2009

Keywords

Childhood
FBN1
International criteria
Marfan syndrome

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

Access to Document

10.1542/peds.2008-0703

Cite this

Faivre, L., Masurel-Paulet, A., Collod-Beroud, G., Callewaert, B. L., Child, A. H., Stheneur, C., Binquet, C., Gautier, E., Chevallier, B., Huet, F., Loeys, B. L., Arbustini, E., Mayer, K., Arslan-Kirchner, M., Kiotsekoglou, A., Comeglio, P., Grasso, M., Halliday, D. J., Beroud, C., ... Jondeau, G. (2009). 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. Pediatrics, 123(1), 391-398. https://doi.org/10.1542/peds.2008-0703

Faivre, L, Masurel-Paulet, A, Collod-Beroud, G, Callewaert, BL, Child, AH, Stheneur, C, Binquet, C, Gautier, E, Chevallier, B, Huet, F, Loeys, BL, Arbustini, E, Mayer, K, Arslan-Kirchner, M, Kiotsekoglou, A, Comeglio, P, Grasso, M, Halliday, DJ, Beroud, C, Bonithon-Kopp, C, Claustres, M, Robinson, PN, Adés, L, De Backer, J, Coucke, P, Francke, U, De Paepe, A, Boileau, C & Jondeau, G 2009, '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', Pediatrics, vol. 123, no. 1, pp. 391-398. https://doi.org/10.1542/peds.2008-0703

@article{2bfd78eb7e7d4f3ba5cddc27094154be,

title = "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",

abstract = "From a large series of 1009 probands with pathogenic FBN1 mutations, data for 320 patients ",

keywords = "Childhood, FBN1, International criteria, Marfan syndrome",

author = "Laurence Faivre and Alice Masurel-Paulet and Gwenaelle Collod-Beroud and Callewaert, {Bert L.} and Child, {Anne H.} and Chantal Stheneur and Christine Binquet and Elodie Gautier and Bertrand Chevallier and Fr{\'e}d{\'e}ric Huet and Loeys, {Bart L.} and Eloisa Arbustini and Karin Mayer and Mine Arslan-Kirchner and Anatoli Kiotsekoglou and Paolo Comeglio and Maurizia Grasso and Halliday, {Dorothy J.} and Christophe Beroud and Claire Bonithon-Kopp and Mireille Claustres and Robinson, {Peter N.} and Lesley Ad{\'e}s and {De Backer}, Julie and Paul Coucke and Uta Francke and {De Paepe}, Anne and Catherine Boileau and Guillaume Jondeau",

year = "2009",

month = jan,

doi = "10.1542/peds.2008-0703",

language = "English",

volume = "123",

pages = "391--398",

journal = "Pediatrics",

issn = "0031-4005",

publisher = "American Academy of Pediatrics",

number = "1",

}

TY - JOUR

T1 - 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

AU - Faivre, Laurence

AU - Masurel-Paulet, Alice

AU - Collod-Beroud, Gwenaelle

AU - Callewaert, Bert L.

AU - Child, Anne H.

AU - Stheneur, Chantal

AU - Binquet, Christine

AU - Gautier, Elodie

AU - Chevallier, Bertrand

AU - Huet, Frédéric

AU - Loeys, Bart L.

AU - Arbustini, Eloisa

AU - Mayer, Karin

AU - Arslan-Kirchner, Mine

AU - Kiotsekoglou, Anatoli

AU - Comeglio, Paolo

AU - Grasso, Maurizia

AU - Halliday, Dorothy J.

AU - Beroud, Christophe

AU - Bonithon-Kopp, Claire

AU - Claustres, Mireille

AU - Robinson, Peter N.

AU - Adés, Lesley

AU - De Backer, Julie

AU - Coucke, Paul

AU - Francke, Uta

AU - De Paepe, Anne

AU - Boileau, Catherine

AU - Jondeau, Guillaume

PY - 2009/1

Y1 - 2009/1

N2 - From a large series of 1009 probands with pathogenic FBN1 mutations, data for 320 patients

AB - From a large series of 1009 probands with pathogenic FBN1 mutations, data for 320 patients

KW - Childhood

KW - FBN1

KW - International criteria

KW - Marfan syndrome

UR - http://www.scopus.com/inward/record.url?scp=59449108914&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=59449108914&partnerID=8YFLogxK

U2 - 10.1542/peds.2008-0703

DO - 10.1542/peds.2008-0703

M3 - Article

C2 - 19117906

AN - SCOPUS:59449108914

VL - 123

SP - 391

EP - 398

JO - Pediatrics

JF - Pediatrics

SN - 0031-4005

IS - 1

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this