Clinical utility gene card for : Marfan syndrome type 1 and related phenotypes [ FBN 1 ]

HAL is a multi-disciplinary open access archive for the deposit and dissemination of scientific research documents, whether they are published or not. The documents may come from teaching and research institutions in France or abroad, or from public or private research centers. L’archive ouverte pluridisciplinaire HAL, est destinée au dépôt et à la diffusion de documents scientifiques de niveau recherche, publiés ou non, émanant des établissements d’enseignement et de recherche français ou étrangers, des laboratoires publics ou privés. Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1] Mine Arslan-Kirchner, Eloisa Arbustini, Catherine Boileau, Anne Child, Gwenaelle Collod-Beroud, Anne De Paepe, Jörg Epplen, Guillaume Jondeau, Bart Loeys, Laurence Faivre

[1]  E. Arbustini,et al.  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 , 2009, American journal of medical genetics. Part A.

[2]  G. Jondeau,et al.  Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene , 2009, European Journal of Human Genetics.

[3]  P. Robinson,et al.  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 , 2009, Pediatrics.

[4]  Magalie S Leduc,et al.  An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease , 2008, Journal of Human Genetics.

[5]  B. Giusti,et al.  FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations , 2008, Clinical genetics.

[6]  M. Keane,et al.  Medical management of Marfan syndrome. , 2008, Circulation.

[7]  E. Arbustini,et al.  Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands , 2008, Journal of Medical Genetics.

[8]  B. Giusti,et al.  Is ectopia lentis in some cases a mild phenotypic expression of Marfan syndrome? Need for a long-term follow-up. , 2007, Molecular vision.

[9]  Glen Brice,et al.  The importance of mutation detection in Marfan syndrome and Marfan‐related disorders: report of 193 FBN1 mutations , 2007, Human mutation.

[10]  A. De Paepe,et al.  Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome , 2007, Clinical genetics.

[11]  M Claustres,et al.  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. , 2007, American journal of human genetics.

[12]  W. Berger,et al.  Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome , 2007, Human Genetics.

[13]  M. Tekin,et al.  Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene , 2007, American journal of medical genetics. Part A.

[14]  P. Byers,et al.  Aneurysm syndromes caused by mutations in the TGF-beta receptor. , 2006, The New England journal of medicine.

[15]  R. Fodde,et al.  Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan‐related phenotypes , 2006, American journal of medical genetics. Part A.

[16]  W. Berger,et al.  Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome‐related disorders , 2006, Human mutation.

[17]  K. Rommel,et al.  Sequence variations in the 5′ upstream regions of the FBN1 gene associated with Marfan syndrome , 2006, European Journal of Human Genetics.

[18]  L. Tavazzi,et al.  Identification of sixty‐two novel and twelve known FBN1 mutations in eighty‐one unrelated probands with Marfan syndrome and other fibrillinopathies , 2005, Human mutation.

[19]  水口 剛.  Heterozygous TGFBR2 mutations in Marfan syndrome , 2005 .

[20]  E. Arbustini,et al.  The FBN1 (R2726W) mutation is not fully penetrant , 2004, Annals of human genetics.

[21]  G. Pals,et al.  Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome , 2004, Human mutation.

[22]  L. Messiaen,et al.  Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS) , 2002, Prenatal diagnosis.

[23]  U. Francke,et al.  Multi-exon deletions of the FBN1 gene in Marfan syndrome , 2001, BMC Medical Genetics.

[24]  C. Junien,et al.  Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation. , 1999, American Journal of Human Genetics.

[25]  L. Peltonen,et al.  Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation. , 1999, American journal of human genetics.

[26]  R E Pyeritz,et al.  Revised diagnostic criteria for the Marfan syndrome. , 1996, American journal of medical genetics.

[27]  L. Peltonen,et al.  A novel mutation of the fibrillin gene causing ectopia lentis. , 1994, Genomics.

[28]  C. Junien,et al.  Identification of 23 TGFBR 2 and 6 TGFBR 1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II , Loeys-Dietz syndrome and related disorders , 2019 .

[29]  K. Gervin,et al.  Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy. , 2006, Genetic testing.