Literature DB >> 11576738

PGD in the lab for triplet repeat diseases - myotonic dystrophy, Huntington's disease and Fragile-X syndrome.

K Sermon1, S Seneca, M De Rycke, V Goossens, H Van de Velde, A De Vos, P Platteau, W Lissens, A Van Steirteghem, I Liebaers.   

Abstract

Myotonic dystrophy (DM), Huntington's disease (HD) and Fragile X syndrome (FRAXA) are three monogenic disease which are caused by so-called dynamic mutations. These mutations are caused by triplet repeats inside or in the vicinity of the gene which have the tendency to expand beyond the normal range thus disrupting the normal functioning of the gene. We describe here our experiences from 1995 to May 2000 with PGD for these three triplet repeat diseases.

Entities:  

Mesh：

Substances：

Year:  2001        PMID： 11576738     DOI： 10.1016/s0303-7207(01)00572-x

Source DB:  PubMed          Journal:  Mol Cell Endocrinol        ISSN： 0303-7207            Impact factor:   4.102


  17 in total

1.  Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres.

Authors:  Maartje C Van Rij; Marjan De Rademaeker; Céline Moutou; Jos C F M Dreesen; Martine De Rycke; Inge Liebaers; Joep P M Geraedts; Christine E M De Die-Smulders; Stéphane Viville
Journal:  Eur J Hum Genet       Date:  2011-11-09       Impact factor: 4.246

2.  Live births following preimplantation genetic testing for dynamic mutation diseases by karyomapping: a report of three cases.

Authors:  Dayuan Shi; Jiawei Xu; Wenbin Niu; Yidong Liu; Hao Shi; Guidong Yao; Senlin Shi; Gang Li; Wenyan Song; Haixia Jin; Yingpu Sun
Journal:  J Assist Reprod Genet       Date:  2020-03-02       Impact factor: 3.412

3.  The reproductive outcome of female patients with myotonic dystrophy type 1 (DM1) undergoing PGD is not affected by the size of the expanded CTG repeat tract.

Authors:  Willem Verpoest; Sara Seneca; Marjan De Rademaeker; Karen Sermon; Martine De Rycke; Michel De Vos; Patrick Haentjens; Paul Devroey; Ingeborg Liebaers
Journal:  J Assist Reprod Genet       Date:  2010-03-11       Impact factor: 3.412

Review 4.  What is the role of genetic testing in movement disorders practice?

Authors:  Susanne A Schneider; Christine Klein
Journal:  Curr Neurol Neurosci Rep       Date:  2011-08       Impact factor: 5.081

5.  Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.

Authors:  Linda L Bachinski; Bjarne Udd; Giovanni Meola; Valeria Sansone; Guillaume Bassez; Bruno Eymard; Charles A Thornton; Richard T Moxley; Peter S Harper; Mark T Rogers; Karin Jurkat-Rott; Frank Lehmann-Horn; Thomas Wieser; Josep Gamez; Carmen Navarro; Armand Bottani; Andre Kohler; Mark D Shriver; Riitta Sallinen; Maija Wessman; Shanxiang Zhang; Fred A Wright; Ralf Krahe
Journal:  Am J Hum Genet       Date:  2003-09-10       Impact factor: 11.025

Review 6.  The biology of infertility: research advances and clinical challenges.

Authors:  Martin M Matzuk; Dolores J Lamb
Journal:  Nat Med       Date:  2008-11-06       Impact factor: 53.440

7.  Intergenerational instability of the expanded CTG repeat in the DMPK gene: studies in human gametes and preimplantation embryos.

Authors:  Nele De Temmerman; Karen Sermon; Sara Seneca; Martine De Rycke; Pierre Hilven; Willy Lissens; André Van Steirteghem; Inge Liebaers
Journal:  Am J Hum Genet       Date:  2004-06-07       Impact factor: 11.025

8.  Preimplantation genetic diagnosis for myotonic dystrophy type 1: upon request to child.

Authors:  Marjan De Rademaeker; Willem Verpoest; Martine De Rycke; Sara Seneca; Karen Sermon; Sonja Desmyttere; Maryse Bonduelle; Josianne Van der Elst; Paul Devroey; Inge Liebaers
Journal:  Eur J Hum Genet       Date:  2009-04-15       Impact factor: 4.246

9.  Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland.

Authors:  Tiina Suominen; Linda L Bachinski; Satu Auvinen; Peter Hackman; Keith A Baggerly; Corrado Angelini; Leena Peltonen; Ralf Krahe; Bjarne Udd
Journal:  Eur J Hum Genet       Date:  2011-03-02       Impact factor: 4.246

10.  Identification of microsatellite markers <1 Mb from the FMR1 CGG repeat and development of a single-tube tetradecaplex PCR panel of highly polymorphic markers for preimplantation genetic diagnosis of fragile X syndrome.

Authors:  Min Chen; Mingjue Zhao; Caroline G Lee; Samuel S Chong
Journal:  Genet Med       Date:  2016-01-07       Impact factor: 8.822
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.