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Page 1
[Changes in clinical practice related to the arrival of next-generation sequencing in the genetic diagnosis of developmental diseases].
Demougeot L, Houdayer F, Pélissier A, Mohrez F, Thevenon J, Duffourd Y, Nambot S, Gautier E, Binquet C, Rossi M, Sanlaville D, Béjean S, Peyron C, Thauvin-Robinet C, Faivre L. Demougeot L, et al. Among authors: binquet c. Arch Pediatr. 2018 Feb;25(2):77-83. doi: 10.1016/j.arcped.2017.12.006. Epub 2018 Feb 12. Arch Pediatr. 2018. PMID: 29395884 French.
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 BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, Robinson PN, Adès LC, Biggin A, Benetts B, Brett M, Holman KJ, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C. Faivre L, et al. Among authors: binquet c. Am J Hum Genet. 2007 Sep;81(3):454-66. doi: 10.1086/520125. Epub 2007 Jul 25. Am J Hum Genet. 2007. PMID: 17701892 Free PMC article.
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 BL, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Kiotsekoglou A, Comeglio P, Marziliano N, Wolf JE, Bouchot O, Khau-Van-Kien P, Beroud C, Claustres M, Bonithon-Kopp C, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C. Faivre L, et al. Among authors: binquet c. Eur J Hum Genet. 2009 Apr;17(4):491-501. doi: 10.1038/ejhg.2008.207. Epub 2008 Nov 12. Eur J Hum Genet. 2009. PMID: 19002209 Free PMC article.
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 L, Masurel-Paulet A, Collod-Béroud 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, Béroud C, Bonithon-Kopp C, Claustres M, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G. Faivre L, et al. Among authors: binquet c. Pediatrics. 2009 Jan;123(1):391-8. doi: 10.1542/peds.2008-0703. Pediatrics. 2009. PMID: 19117906 Free article.
Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion.
Faivre L, Collod-Beroud G, Callewaert B, Child A, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M, Beroud C, Bonithon-Kopp C, Claustres M, Stheneur C, Bouchot O, Wolf JE, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G. Faivre L, et al. Among authors: binquet c. Am J Med Genet A. 2009 May;149A(5):854-60. doi: 10.1002/ajmg.a.32809. Am J Med Genet A. 2009. PMID: 19353630 Free article.
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I.
Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A, Maystadt I, Cosyns JP, Jouk PS, Loeys B, Chauveau D, Bieth E, Layet V, Mathieu M, Lespinasse J, Teebi A, Franco B, Gautier E, Binquet C, Masurel-Paulet A, Mousson C, Gouyon JB, Huet F, Thauvin-Robinet C. Saal S, et al. Among authors: binquet c. Clin Genet. 2010 Mar;77(3):258-65. doi: 10.1111/j.1399-0004.2009.01290.x. Epub 2009 Oct 8. Clin Genet. 2010. PMID: 19817772
The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening.
Thauvin-Robinet C, Munck A, Huet F, Génin E, Bellis G, Gautier E, Audrézet MP, Férec C, Lalau G, Georges MD, Claustres M, Bienvenu T, Gérard B, Boisseau P, Cabet-Bey F, Feldmann D, Clavel C, Bieth E, Iron A, Simon-Bouy B, Costa C, Medina R, Leclerc J, Hubert D, Nové-Josserand R, Sermet-Gaudelus I, Rault G, Flori J, Leroy S, Wizla N, Bellon G, Haloun A, Perez-Martin S, d'Acremont G, Corvol H, Clément A, Houssin E, Binquet C, Bonithon-Kopp C, Alberti-Boulmé C, Morris MA, Faivre L, Goossens M, Roussey M; Collaborating Working Group on R117H; Girodon E. Thauvin-Robinet C, et al. Among authors: binquet c. J Med Genet. 2009 Nov;46(11):752-8. doi: 10.1136/jmg.2009.067215. Epub 2009 Jun 29. J Med Genet. 2009. PMID: 19880712
Written information to patients in clinical genetics: what's the impact?
Cassini C, Thauvin-Robinet C, Vinault S, Binquet C, Coron F, Masurel-Paulet A, Bonithon-Kopp C, Mercier S, Joly L, Huet F, Faivre L. Cassini C, et al. Among authors: binquet c. Eur J Med Genet. 2011 May-Jun;54(3):277-80. doi: 10.1016/j.ejmg.2011.03.006. Epub 2011 Mar 21. Eur J Med Genet. 2011. PMID: 21420514
The new Ghent criteria for Marfan syndrome: what do they change?
Faivre L, Collod-Beroud G, Adès L, Arbustini E, Child A, Callewaert BL, Loeys B, Binquet C, Gautier E, Mayer K, Arslan-Kirchner M, Grasso M, Beroud C, Hamroun D, Bonithon-Kopp C, Plauchu H, Robinson PN, De Backer J, Coucke P, Francke U, Bouchot O, Wolf JE, Stheneur C, Hanna N, Detaint D, De Paepe A, Boileau C, Jondeau G. Faivre L, et al. Among authors: binquet c. Clin Genet. 2012 May;81(5):433-42. doi: 10.1111/j.1399-0004.2011.01703.x. Epub 2011 Jun 2. Clin Genet. 2012. PMID: 21564093 Free article.
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