385
Views
3
CrossRef citations to date
0
Altmetric
Research Aricles

Pre-implantation genetic testing for Marfan syndrome using mini-sequencing

ORCID Icon, ORCID Icon, ORCID Icon, ORCID Icon, ORCID Icon, ORCID Icon, ORCID Icon & ORCID Icon show all

References

  • Aoyama T, Francke U, Gasner C, Furthmayr H. 1995. Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders. American Journal of Medical Genetics 58:169–176.
  • Bermudez MG, Piyamongkol W, Tomaz S, Dudman E, Sherlock JK, Wells D. 2003. Single-cell sequencing and mini-sequencing for preimplantation genetic diagnosis. Prenatal Diagnosis 23:669–677.
  • Blaszczyk A, Tang YX, Dietz HC, Adler A, Berkeley AS, Krey LC, Grifo JA. 1998. Preimplantation genetic diagnosis of human embryos for Marfan's syndrome. Journal of Assisted Reproduction and Genetics 15:281–284.
  • Fletcher AJ, Syed MBJ, Aitman TJ, Newby DE, Walker NL. 2020. Inherited thoracic aortic disease: new insights and translational targets. Circulation 141:1570–1587.
  • Handyside AH, Lesko JG, Tarin JJ, Winston RM, Hughes MR. 1992. Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis. New England Journal of Medicine 327:905–909.
  • Harton GL, Tsipouras P, Sisson ME, Starr KM, Mahoney BS, Fugger EF, et al. 1996. Preimplantation genetic testing for Marfan syndrome. Molecular Human Reproduction 2:713–715.
  • Judge DP, Biery NJ, Dietz HC. 2001. Characterization of microsatellite markers flanking FBN1: utility in the diagnostic evaluation for Marfan syndrome. American Journal of Medical Genetics 99:39–47.
  • Lee B, Godfrey M, Vitale E, Hori H, Mattei MG, Sarfarazi M, et al. 1991. Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature 352:330–334.
  • Lledo B, Ten J, Galan FM, Bernabeu R. 2006. Preimplantation genetic diagnosis of Marfan syndrome using multiple displacement amplification. Fertility and Sterility 86:949–955.
  • Loeys B, Nuytinck L, Van Acker P, Walraedt S, Bonduelle M, Sermon K, et al. 2002. Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS). Prenatal Diagnosis 22:22–28.
  • Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, et al. 2010. The revised Ghent nosology for the Marfan syndrome. Journal of Medical Genetics 47:476–485.
  • Marfan AB. 1896. Un cas de deformation congenitale des quatre membres, plue prononcee aux extremities, caracterisee par l’allongement des os avec un certain degre d’amincissement. Bulletin et Mémoires de la Société des Chirurgiens de Paris 13:6.
  • Pereira L, Levran O, Ramirez F, Lynch JR, Sykes B, Pyeritz RE, Dietz HC. 1994. A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome. New England Journal of Medicine 331:148–153.
  • Piyamongkol W, Vutyavanich T, Piyamongkol S, Wells D, Kunaviktikul C, Tongsong T, et al. 2006. A successful strategy for preimplantation genetic diagnosis of beta-thalassemia and simultaneous detection of Down's syndrome using multiplex fluorescent PCR. Journal of the Medical Association of Thailand = Chotmaihet Thangphaet 89:918–927.
  • Piyamongkol W, Vutyavanich T, Sanguansermsri T. 2012. Preimplantation genetic diagnosis of alpha-thalassemia-SEA using novel multiplex fluorescent PCR. Journal of Assisted Reproduction and Genetics 29:95–102.
  • Pyeritz RE. 1993. Marfan syndrome: current and future clinical and genetic management of cardiovascular manifestations. Seminars in Thoracic and Cardiovascular Surgery 5:11–16.
  • Robinson PN, Arteaga-Solis E, Baldock C, Collod-Beroud G, Booms P, De Paepe A, et al. 2006. The molecular genetics of Marfan syndrome and related disorders. Journal of Medical Genetics 43:769–787.
  • Robinson PN, Booms P, Katzke S, Ladewig M, Neumann L, Palz M, et al. 2002. Mutations of FBN1 and genotype–phenotype correlations in Marfan syndrome and related fibrillinopathies. Human Mutation 20:153–161.
  • Sermon K, Lissens W, Messiaen L, Bonduelle M, Vandervorst M, Van Steirteghem A, Liebaers I. 1999. Preimplantation genetic diagnosis of Marfan syndrome with the use of fluorescent polymerase chain reaction and the automated laser fluorescence DNA sequencer. Fertility and Sterility 71:163–166.
  • Spits C, De Rycke M, Verpoest W, Lissens W, Van Steirteghem A, Liebaers I, Sermon K. 2006. Preimplantation genetic diagnosis for Marfan syndrome. Fertility and Sterility 86:310–320.
  • Thornhill AR, Handyside AH, Ottolini C, Natesan SA, Taylor J, Sage K, et al. 2015. Karyomapping—a comprehensive means of simultaneous monogenic and cytogenetic PGD: comparison with standard approaches in real time for Marfan syndrome. Journal of Assisted Reproduction and Genetics 32:347–356.
  • Vlahos NF, Triantafyllidou O, Vitoratos N, Grigoriadis C, Creatsas G. 2013. Preimplantation genetic diagnosis in Marfan syndrome. Case Reports in Obstetrics and Gynecology 2013:542961.
  • Wang S, Niu Z, Wang H, Ma M, Zhang W, Fang Wang S, et al. 2017. De novo paternal FBN1 mutation detected in embryos before implantation. Medical Science Monitor 23:3136–3146.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.