Literature DB >> 25099625

Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD.

Ndeye-Aicha Gueye1, Chaim Jalas, Xin Tao, Deanne Taylor, Richard T Scott, Nathan R Treff.   

Abstract

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Year:  2014        PMID： 25099625      PMCID： PMC4156949          DOI： 10.1007/s10815-014-0298-9

Source DB:  PubMed          Journal:  J Assist Reprod Genet        ISSN： 1058-0468            Impact factor:   3.412


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  16 in total

1.  Initial sequencing and analysis of the human genome.

Authors:  E S Lander; L M Linton; B Birren; C Nusbaum; M C Zody; J Baldwin; K Devon; K Dewar; M Doyle; W FitzHugh; R Funke; D Gage; K Harris; A Heaford; J Howland; L Kann; J Lehoczky; R LeVine; P McEwan; K McKernan; J Meldrim; J P Mesirov; C Miranda; W Morris; J Naylor; C Raymond; M Rosetti; R Santos; A Sheridan; C Sougnez; Y Stange-Thomann; N Stojanovic; A Subramanian; D Wyman; J Rogers; J Sulston; R Ainscough; S Beck; D Bentley; J Burton; C Clee; N Carter; A Coulson; R Deadman; P Deloukas; A Dunham; I Dunham; R Durbin; L French; D Grafham; S Gregory; T Hubbard; S Humphray; A Hunt; M Jones; C Lloyd; A McMurray; L Matthews; S Mercer; S Milne; J C Mullikin; A Mungall; R Plumb; M Ross; R Shownkeen; S Sims; R H Waterston; R K Wilson; L W Hillier; J D McPherson; M A Marra; E R Mardis; L A Fulton; A T Chinwalla; K H Pepin; W R Gish; S L Chissoe; M C Wendl; K D Delehaunty; T L Miner; A Delehaunty; J B Kramer; L L Cook; R S Fulton; D L Johnson; P J Minx; S W Clifton; T Hawkins; E Branscomb; P Predki; P Richardson; S Wenning; T Slezak; N Doggett; J F Cheng; A Olsen; S Lucas; C Elkin; E Uberbacher; M Frazier; R A Gibbs; D M Muzny; S E Scherer; J B Bouck; E J Sodergren; K C Worley; C M Rives; J H Gorrell; M L Metzker; S L Naylor; R S Kucherlapati; D L Nelson; G M Weinstock; Y Sakaki; A Fujiyama; M Hattori; T Yada; A Toyoda; T Itoh; C Kawagoe; H Watanabe; Y Totoki; T Taylor; J Weissenbach; R Heilig; W Saurin; F Artiguenave; P Brottier; T Bruls; E Pelletier; C Robert; P Wincker; D R Smith; L Doucette-Stamm; M Rubenfield; K Weinstock; H M Lee; J Dubois; A Rosenthal; M Platzer; G Nyakatura; S Taudien; A Rump; H Yang; J Yu; J Wang; G Huang; J Gu; L Hood; L Rowen; A Madan; S Qin; R W Davis; N A Federspiel; A P Abola; M J Proctor; R M Myers; J Schmutz; M Dickson; J Grimwood; D R Cox; M V Olson; R Kaul; C Raymond; N Shimizu; K Kawasaki; S Minoshima; G A Evans; M Athanasiou; R Schultz; B A Roe; F Chen; H Pan; J Ramser; H Lehrach; R Reinhardt; W R McCombie; M de la Bastide; N Dedhia; H Blöcker; K Hornischer; G Nordsiek; R Agarwala; L Aravind; J A Bailey; A Bateman; S Batzoglou; E Birney; P Bork; D G Brown; C B Burge; L Cerutti; H C Chen; D Church; M Clamp; R R Copley; T Doerks; S R Eddy; E E Eichler; T S Furey; J Galagan; J G Gilbert; C Harmon; Y Hayashizaki; D Haussler; H Hermjakob; K Hokamp; W Jang; L S Johnson; T A Jones; S Kasif; A Kaspryzk; S Kennedy; W J Kent; P Kitts; E V Koonin; I Korf; D Kulp; D Lancet; T M Lowe; A McLysaght; T Mikkelsen; J V Moran; N Mulder; V J Pollara; C P Ponting; G Schuler; J Schultz; G Slater; A F Smit; E Stupka; J Szustakowki; D Thierry-Mieg; J Thierry-Mieg; L Wagner; J Wallis; R Wheeler; A Williams; Y I Wolf; K H Wolfe; S P Yang; R F Yeh; F Collins; M S Guyer; J Peterson; A Felsenfeld; K A Wetterstrand; A Patrinos; M J Morgan; P de Jong; J J Catanese; K Osoegawa; H Shizuya; S Choi; Y J Chen; J Szustakowki
Journal:  Nature       Date:  2001-02-15       Impact factor: 49.962

Review 2.  Microsatellites: simple sequences with complex evolution.

Authors:  Hans Ellegren
Journal:  Nat Rev Genet       Date:  2004-06       Impact factor: 53.242

3.  ESHRE PGD consortium best practice guidelines for amplification-based PGD.

Authors:  G L Harton; M De Rycke; F Fiorentino; C Moutou; S SenGupta; J Traeger-Synodinos; J C Harper
Journal:  Hum Reprod       Date:  2010-10-21       Impact factor: 6.918

4.  Fine-scale recombination rate differences between sexes, populations and individuals.

Authors:  Augustine Kong; Gudmar Thorleifsson; Daniel F Gudbjartsson; Gisli Masson; Asgeir Sigurdsson; Aslaug Jonasdottir; G Bragi Walters; Adalbjorg Jonasdottir; Arnaldur Gylfason; Kari Th Kristinsson; Sigurjon A Gudjonsson; Michael L Frigge; Agnar Helgason; Unnur Thorsteinsdottir; Kari Stefansson
Journal:  Nature       Date:  2010-10-28       Impact factor: 49.962

5.  Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes.

Authors:  Alan H Handyside; Gary L Harton; Brian Mariani; Alan R Thornhill; Nabeel Affara; Marie-Anne Shaw; Darren K Griffin
Journal:  J Med Genet       Date:  2009-10-25       Impact factor: 6.318

6.  Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells.

Authors:  Pamela Renwick; Jane Trussler; Alison Lashwood; Peter Braude; Caroline Mackie Ogilvie
Journal:  Reprod Biomed Online       Date:  2010-01-11       Impact factor: 3.828

7.  Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis.

Authors:  A H Handyside; J G Lesko; J J Tarín; R M Winston; M R Hughes
Journal:  N Engl J Med       Date:  1992-09-24       Impact factor: 91.245

8.  Over a decade of experience with preimplantation genetic diagnosis: a multicenter report.

Authors:  Yury Verlinsky; Jacques Cohen; Santiago Munne; Luca Gianaroli; Joe Leigh Simpson; Anna Pia Ferraretti; Anver Kuliev
Journal:  Fertil Steril       Date:  2004-08       Impact factor: 7.329

9.  The causes of misdiagnosis and adverse outcomes in PGD.

Authors:  L Wilton; A Thornhill; J Traeger-Synodinos; K D Sermon; J C Harper
Journal:  Hum Reprod       Date:  2009-01-20       Impact factor: 6.918

10.  High-throughput carrier screening using TaqMan allelic discrimination.

Authors:  Anastasia Fedick; Jing Su; Chaim Jalas; Lesley Northrop; Batsal Devkota; Josef Ekstein; Nathan R Treff
Journal:  PLoS One       Date:  2013-03-26       Impact factor: 3.240
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  4 in total

1.  Long-read sequencing on the SMRT platform enables efficient haplotype linkage analysis in preimplantation genetic testing for β-thalassemia.

Authors:  Haitao Wu; Dongjia Chen; Qiang Zhao; Xiaoting Shen; Yongbin Liao; Ping Li; Philip C N Chiu; Canquan Zhou
Journal:  J Assist Reprod Genet       Date:  2022-02-09       Impact factor: 3.412

2.  Eleven healthy live births: a result of simultaneous preimplantation genetic testing of α- and β-double thalassemia and aneuploidy screening.

Authors:  Dongjia Chen; Xiaoting Shen; Changsheng Wu; Yan Xu; Chenhui Ding; Guirong Zhang; Yanwen Xu; Canquan Zhou
Journal:  J Assist Reprod Genet       Date:  2020-03-09       Impact factor: 3.412

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.  Using affected embryos to establish linkage phase in preimplantation genetic testing for thalassemia.

Authors:  Zhanhui Ou; Yu Deng; Yunhao Liang; Zhiheng Chen; Ling Sun
Journal:  Reprod Biol Endocrinol       Date:  2022-04-30       Impact factor: 4.982
  4 in total

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