Literature DB >> 22723008

Molecular genetic analysis of single cells.

Francesco Fiorentino1.   

Abstract

Preimplantation genetic diagnosis (PGD) has experienced a considerable technical evolution since its first application in the early 1990s. The technology for single-cell genetic analysis has reached an extremely high level of accuracy and enabled the possibility of performing multiple diagnoses from one cell. Diagnosis of a monogenic disease can now be combined with aneuploidy screening, human leukocyte antigen typing, and DNA fingerprinting. New technologies such as microarrays are opening the way for an increasing number of serious genetic defects to be detected in preimplantation embryos. The new PGD techniques will empower patients and clinicians to screen for almost any kind of genetic problem in embryos, with the potential to change completely the manner in which parents approach and manage genetic disease. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

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Year:  2012        PMID: 22723008     DOI: 10.1055/s-0032-1313906

Source DB:  PubMed          Journal:  Semin Reprod Med        ISSN: 1526-4564            Impact factor:   1.303


  4 in total

1.  Evaluation of PCR-based preimplantation genetic diagnosis applied to monogenic diseases: a collaborative ESHRE PGD consortium study.

Authors:  Jos Dreesen; Aspasia Destouni; Georgia Kourlaba; Birte Degn; Wulf Christensen Mette; Filipa Carvalho; Celine Moutou; Sioban Sengupta; Seema Dhanjal; Pamela Renwick; Steven Davies; Emmanouel Kanavakis; Gary Harton; Joanne Traeger-Synodinos
Journal:  Eur J Hum Genet       Date:  2013-12-04       Impact factor: 4.246

2.  Live births after simultaneous avoidance of monogenic diseases and chromosome abnormality by next-generation sequencing with linkage analyses.

Authors:  Liying Yan; Lei Huang; Liya Xu; Jin Huang; Fei Ma; Xiaohui Zhu; Yaqiong Tang; Mingshan Liu; Ying Lian; Ping Liu; Rong Li; Sijia Lu; Fuchou Tang; Jie Qiao; X Sunney Xie
Journal:  Proc Natl Acad Sci U S A       Date:  2015-12-28       Impact factor: 11.205

3.  Performance comparison of two whole genome amplification techniques in frame of multifactor preimplantation genetic testing.

Authors:  Ludmila Volozonoka; Dmitry Perminov; Liene Korņejeva; Baiba Alkšere; Natālija Novikova; Evija Jokste Pīmane; Arita Blumberga; Inga Kempa; Anna Miskova; Linda Gailīte; Violeta Fodina
Journal:  J Assist Reprod Genet       Date:  2018-04-23       Impact factor: 3.412

4.  Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro.

Authors:  Senthilkumar A Natesan; Alex J Bladon; Serdar Coskun; Wafa Qubbaj; Renata Prates; Santiago Munne; Edith Coonen; Joseph C F M Dreesen; Servi J C Stevens; Aimee D C Paulussen; Sharyn E Stock-Myer; Leeanda J Wilton; Souraya Jaroudi; Dagan Wells; Anthony P C Brown; Alan H Handyside
Journal:  Genet Med       Date:  2014-05-08       Impact factor: 8.822

  4 in total

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