37: 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.

Am J Med Genet A. 2009 May;149A(5):854-60.

PMID: 19353630 [PubMed - in process]

36: Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

Desmet FO, Hamroun D, Lalande M, Collod-Béroud G, Claustres M, Béroud C.

Nucleic Acids Res. 2009 May;37(9):e67. Epub 2009 Apr 1.

PMID: 19339519 [PubMed - in process]

35: The p.Asp216His TOR1A allele effect is not found in the French population.

Frédéric MY, Clot F, Blanchard A, Dhaenens CM, Lesca G, Cif L, Dürr A, Vidailhet M, Sablonniere B, Calender A, Martinez M, Molinari N, Brice A, Claustres M, Tuffery-Giraud S, Collod-Beroud G.

Mov Disord. 2009 Apr 30;24(6):919-21.

PMID: 19260107 [PubMed - in process]

34: 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.

Eur J Hum Genet. 2009 Apr;17(4):491-501. Epub 2008 Nov 12.

PMID: 19002209 [PubMed - indexed for MEDLINE]

33: Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.

Stheneur C, Collod-Béroud G, Faivre L, Buyck JF, Gouya L, Le Parc JM, Moura B, Muti C, Grandchamp B, Sultan G, Claustres M, Aegerter P, Chevallier B, Jondeau G, Boileau C.

Eur J Hum Genet. 2009 Mar 18. [Epub ahead of print]

PMID: 19293843 [PubMed - as supplied by publisher]

32: The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.

Frédéric MY, Monino C, Marschall C, Hamroun D, Faivre L, Jondeau G, Klein HG, Neumann L, Gautier E, Binquet C, Maslen C, Godfrey M, Gupta P, Milewicz D, Boileau C, Claustres M, Béroud C, Collod-Béroud G.

Hum Mutat. 2009 Feb;30(2):181-90.

PMID: 18767143 [PubMed - indexed for MEDLINE]

31: UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.

Frédéric MY, Lalande M, Boileau C, Hamroun D, Claustres M, Béroud C, Collod-Béroud G.

Hum Mutat. 2009 Jan 20. [Epub ahead of print]

PMID: 19370756 [PubMed - as supplied by publisher]

30: 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.

Pediatrics. 2009 Jan;123(1):391-8.

PMID: 19117906 [PubMed - indexed for MEDLINE]

29: Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.

Stheneur C, Collod-Béroud G, Faivre L, Gouya L, Sultan G, Le Parc JM, Moura B, Attias D, Muti C, Sznajder M, Claustres M, Junien C, Baumann C, Cormier-Daire V, Rio M, Lyonnet S, Plauchu H, Lacombe D, Chevallier B, Jondeau G, Boileau C.

Hum Mutat. 2008 Nov;29(11):E284-95.

PMID: 18781618 [PubMed - indexed for MEDLINE]

28: 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 BL, 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 PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G.

J Med Genet. 2008 Jun;45(6):384-90. Epub 2008 Feb 29.

PMID: 18310266 [PubMed - indexed for MEDLINE]

27: Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?

Frédéric MY, Clot F, Cif L, Blanchard A, Dürr A, Vuillaume I, Lesca G, Kreisler A, Davin C, Besnard T, Rousset F, Thorel D, Saquet C, Mechin D, Ozelius L, Agid Y, Barroso B, Chabrol B, Chan V, Clanet M, Coubes C, Destee A, Nguyen K, Vial C, Vidailhet M, Xie J, Sablonniere B, Calender A, Brice A, Roubertie A, Coubes P, Claustres M, Tuffery-Giraud S, Collod-Beroud G.

Neurogenetics. 2008 May;9(2):143-50. Epub 2008 Mar 6.

PMID: 18322712 [PubMed - in process]

26: A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2.

Frederic MY, Hamroun D, Faivre L, Boileau C, Jondeau G, Claustres M, Béroud C, Collod-Béroud G.

Hum Mutat. 2008 Jan;29(1):33-8.

PMID: 17935258 [PubMed - indexed for MEDLINE]

25: 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.

Am J Hum Genet. 2007 Sep;81(3):454-66. Epub 2007 Jul 25.

PMID: 17701892 [PubMed - indexed for MEDLINE]

24: First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population.

Frédéric M, Lucarz E, Monino C, Saquet C, Thorel D, Claustres M, Tuffery-Giraud S, Collod-Béroud G.

Mov Disord. 2007 Apr 30;22(6):884-8.

PMID: 17290457 [PubMed - indexed for MEDLINE]

23: Chapitre 3: "Primary dystonia: In search of new genes…"

Frédéric M, Tuffery-Giraud S, and Collod-Béroud G.

in "Molecular Genetic Analysis of Rare Diseases in 2007: Selected Examples". Research Signpost Ed (Keraia, India), [2007] Chapitre 3: 1-19

22: The molecular genetics of Marfan syndrome and related disorders.

Robinson PN, Arteaga-Solis E, Baldock C, Collod-Béroud G, Booms P, De Paepe A, Dietz HC, Guo G, Handford PA, Judge DP, Kielty CM, Loeys B, Milewicz DM, Ney A, Ramirez F, Reinhardt DP, Tiedemann K, Whiteman P, Godfrey M.

J Med Genet. 2006 Oct;43(10):769-87. Epub 2006 Mar 29. Review.

PMID: 16571647 [PubMed - indexed for MEDLINE]

21: UMD (Universal Mutation Database): 2005 update.

Béroud C, Hamroun D, Collod-Béroud G, Boileau C, Soussi T, Claustres M.

Hum Mutat. 2005 Sep;26(3):184-91.

PMID: 16086365 [PubMed - indexed for MEDLINE]

20: Heterozygous TGFBR2 mutations in Marfan syndrome.

Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M, Harada N, Morisaki T, Allard D, Varret M, Claustres M, Morisaki H, Ihara M, Kinoshita A, Yoshiura K, Junien C, Kajii T, Jondeau G, Ohta T, Kishino T, Furukawa Y, Nakamura Y, Niikawa N, Boileau C, Matsumoto N.

Nat Genet. 2004 Aug;36(8):855-60. Epub 2004 Jul 4.

PMID: 15235604 [PubMed - indexed for MEDLINE]

19: Marfan syndrome and related fibrillinopathies.

Collod-Béroud G. and Boileau C.

In : “Encyclopedia of diagnostic genomics and proteomics“. Editors  Jürgen Fuchs and Maurizio Podda. Marcel Dekker Inc. New York. [2004].

18: The Marfan Mutation Database.

Collod-Béroud G. and Boileau C.

In "Marfan syndrome : A Primer for Clinicians and Scientists", Editors Peter Robinson and Maurice Godfrey, Eureka.com and Kluwer Academic/Plenum Publishers [2004].

17: Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.

Collod-Béroud G, Le Bourdelles S, Ades L, Ala-Kokko L, Booms P, Boxer M, Child A, Comeglio P, De Paepe A, Hyland JC, Holman K, Kaitila I, Loeys B, Matyas G, Nuytinck L, Peltonen L, Rantamaki T, Robinson P, Steinmann B, Junien C, Béroud C, Boileau C.

Hum Mutat. 2003 Sep;22(3):199-208. Review.

PMID: 12938084 [PubMed - indexed for MEDLINE]

16: In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome.

Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, Samples JR, Le Merrer M, Collod-Beroud G, Boileau C, Munnich A, Cormier-Daire V.

J Med Genet. 2003 Jan;40(1):34-6.

PMID: 12525539 [PubMed - indexed for MEDLINE]

15: Marfan syndrome in the third Millennium.

Collod-Béroud G, Boileau C.

Eur J Hum Genet. 2002 Nov;10(11):673-81. Review.

PMID: 12404097 [PubMed - indexed for MEDLINE]

14: An update on the Marfan syndrome and its pathological aspects at the protein and molecular level

Collod-Béroud G.and Boileau C.

"Human Genetics", "Recent research developments in human genetics", Research Signpost Ed (Keraia, India), 1 [2002]: 23-34.

13: UMD (Universal mutation database): a generic software to build and analyze locus-specific databases.

Béroud C, Collod-Béroud G, Boileau C, Soussi T, Junien C.

Hum Mutat. 2000;15(1):86-94.

PMID: 10612827 [PubMed - indexed for MEDLINE]

12: Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.

Collod-Béroud G, Lackmy-Port-Lys M, Jondeau G, Mathieu M, Maingourd Y, Coulon M, Guillotel M, Junien C, Boileau C.

Am J Hum Genet. 1999 Sep;65(3):917-21. No abstract available.

PMID: 10441597 [PubMed - indexed for MEDLINE]

11: Marfan Database (third edition): new mutations and new routines for the software.

Collod-Béroud G, Béroud C, Ades L, Black C, Boxer M, Brock DJ, Holman KJ, de Paepe A, Francke U, Grau U, Hayward C, Klein HG, Liu W, Nuytinck L, Peltonen L, Alvarez Perez AB, Rantamäki T, Junien C, Boileau C.

Nucleic Acids Res. 1998 Jan 1;26(1):229-3.

PMID: 9399842 [PubMed - indexed for MEDLINE]

10: [Contribution of genetics to pathogenicity and diagnosis of Marfan syndrome]

Boileau C, Collod G, Bonnet D.

Arch Mal Coeur Vaiss. 1997 Dec;90(12 Suppl):1707-12. French.

PMID: 9587455 [PubMed - indexed for MEDLINE]

9: Software and database for the analysis of mutations in the human LDL receptor gene.

Varret M, Rabès JP, Collod-Béroud G, Junien C, Boileau C, Béroud C.

Nucleic Acids Res. 1997 Jan 1;25(1):172-80.

PMID: 9016531 [PubMed - indexed for MEDLINE]

8: Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.

Collod-Béroud G, Béroud C, Adès L, Black C, Boxer M, Brock DJ, Godfrey M, Hayward C, Karttunen L, Milewicz D, Peltonen L, Richards RI, Wang M, Junien C, Boileau C.

Nucleic Acids Res. 1997 Jan 1;25(1):147-50.

PMID: 9016526 [PubMed - indexed for MEDLINE]

7: Fibulin-2: genetic mapping and exclusion as a candidate gene in Marfan syndrome type 2.

Collod G, Chu ML, Sasaki T, Coulon M, Timpl R, Renkart L, Weissenbach J, Jondeau G, Bourdarias JP, Junien C, Boileau C.

Eur J Hum Genet. 1996;4(5):292-5.

PMID: 8946175 [PubMed - indexed for MEDLINE]

6: Software and database for the analysis of mutations in the human FBN1 gene.

Collod G, Béroud C, Soussi T, Junien C, Boileau C.

Nucleic Acids Res. 1996 Jan 1;24(1):137-40.

PMID: 8594563 [PubMed - indexed for MEDLINE]

5: Fibrillines et fibrillinopathies

Collod G. and C. Boileau.

médecine/sciences, 1996, 12, 1077-1086.

4: The question of heterogeneity in Marfan syndrome.

Dietz H, Francke U, Furthmayr H, Francomano C, De Paepe A, Devereux R, Ramirez F, Pyeritz R.

Nat Genet. 1995 Mar;9(3):228-29

Reply : Boileau, G. Collod, C. Junien, G. Jondeau, O. Dubourg, J-P. Bourdarias, J. Frézal and P. Maroteau.

Nat Genet. 1995 Mar;9(3):230-31.

PMID: 7773282C.

3: A second locus for Marfan syndrome maps to chromosome 3p24.2-p25.

Collod G, Babron MC, Jondeau G, Coulon M, Weissenbach J, Dubourg O, Bourdarias JP, Bonaïti-Pellié C, Junien C, Boileau C.

Nat Genet. 1994 Nov;8(3):264-8.

PMID: 7632217 [PubMed - indexed for MEDLINE]

2: Identification of the haplotype associated with the APOB-3500 mutation in a French hypercholesterolemic subject: further support for a unique European ancestral mutation.

Loux N, Saint-Jore B, Collod G, Benlian P, Cambou JP, Denat M, Junien C, Boileau C.

Hum Mutat. 1993;2(2):145-7. No abstract available.

PMID: 8318993 [PubMed - indexed for MEDLINE]

1: Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method.

Loux N, Saint-Jore B, Collod G, Dairou F, Benlian P, Truffert J, Dastugue B, Douste-Blazy P, de Gennes JL, Junien C, et al.

Hum Mutat. 1992;1(4):325-32.

PMID: 1301940 [PubMed - indexed for MEDLINE]