Literature DB >> 31444163

A method for noninvasive prenatal diagnosis of monogenic autosomal recessive disorders.

Anthony Cutts1,2,3, Dimitrios V Vavoulis1,2,3,4, Mary Petrou5,6, Frances Smith7, Barnaby Clark8,9, Shirley Henderson10,11, Anna Schuh1,2,3,12.   

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Year:  2019        PMID： 31444163      PMCID： PMC6888147          DOI： 10.1182/blood.2019002099

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


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  10 in total

1.  Presence of fetal DNA in maternal plasma and serum.

Authors:  Y M Lo; N Corbetta; P F Chamberlain; V Rai; I L Sargent; C W Redman; J S Wainscoat
Journal:  Lancet       Date:  1997-08-16       Impact factor: 79.321

2.  Cell-free DNA analysis for noninvasive examination of trisomy.

Authors:  Mary E Norton; Bo Jacobsson; Geeta K Swamy; Louise C Laurent; Angela C Ranzini; Herb Brar; Mark W Tomlinson; Leonardo Pereira; Jean L Spitz; Desiree Hollemon; Howard Cuckle; Thomas J Musci; Ronald J Wapner
Journal:  N Engl J Med       Date:  2015-04-01       Impact factor: 91.245

3.  Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis.

Authors:  Y M Lo; M S Tein; T K Lau; C J Haines; T N Leung; P M Poon; J S Wainscoat; P J Johnson; A M Chang; N M Hjelm
Journal:  Am J Hum Genet       Date:  1998-04       Impact factor: 11.025

4.  Gene therapy targets sickle-cell disease.

Authors:  Anna Nowogrodzki
Journal:  Nature       Date:  2018-12       Impact factor: 49.962

5.  Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.

Authors:  Jinglan Zhang; Jianli Li; Jennifer B Saucier; Yanming Feng; Yanjun Jiang; Jefferson Sinson; Anne K McCombs; Eric S Schmitt; Sandra Peacock; Stella Chen; Hongzheng Dai; Xiaoyan Ge; Guoli Wang; Chad A Shaw; Hui Mei; Amy Breman; Fan Xia; Yaping Yang; Anne Purgason; Alan Pourpak; Zhao Chen; Xia Wang; Yue Wang; Shashikant Kulkarni; Kwong Wai Choy; Ronald J Wapner; Ignatia B Van den Veyver; Arthur Beaudet; Sheetal Parmar; Lee-Jun Wong; Christine M Eng
Journal:  Nat Med       Date:  2019-01-28       Impact factor: 53.440

6.  Gene Therapy in a Patient with Sickle Cell Disease.

Authors:  Jean-Antoine Ribeil; Salima Hacein-Bey-Abina; Emmanuel Payen; Alessandra Magnani; Michaela Semeraro; Elisa Magrin; Laure Caccavelli; Benedicte Neven; Philippe Bourget; Wassim El Nemer; Pablo Bartolucci; Leslie Weber; Hervé Puy; Jean-François Meritet; David Grevent; Yves Beuzard; Stany Chrétien; Thibaud Lefebvre; Robert W Ross; Olivier Negre; Gabor Veres; Laura Sandler; Sandeep Soni; Mariane de Montalembert; Stéphane Blanche; Philippe Leboulch; Marina Cavazzana
Journal:  N Engl J Med       Date:  2017-03-02       Impact factor: 91.245

7.  Non-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease using pyrophosphorolysis-activated polymerization and melting curve analysis.

Authors:  Marion Phylipsen; Supawadee Yamsri; Emmely E Treffers; Diahann T S L Jansen; Warsha A Kanhai; Elles M J Boon; Piero C Giordano; Supan Fucharoen; Egbert Bakker; Cornelis L Harteveld
Journal:  Prenat Diagn       Date:  2012-04-20       Impact factor: 3.050

8.  Arrayed primer extension for the noninvasive prenatal diagnosis of beta-thalassemia based on detection of single nucleotide polymorphisms.

Authors:  Thessalia Papasavva; Ioannis Kalikas; Andreanni Kyrri; Marina Kleanthous
Journal:  Ann N Y Acad Sci       Date:  2008-08       Impact factor: 5.691

9.  Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemia.

Authors:  Angela N Barrett; Thomas C R McDonnell; K C Allen Chan; Lyn S Chitty
Journal:  Clin Chem       Date:  2012-03-26       Impact factor: 8.327

10.  Evaluation of a novel assay for detection of the fetal marker RASSF1A: facilitating improved diagnostic reliability of noninvasive prenatal diagnosis.

Authors:  Helen E White; Carolyn L Dent; Victoria J Hall; John A Crolla; Lyn S Chitty
Journal:  PLoS One       Date:  2012-09-14       Impact factor: 3.240
  10 in total

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