Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

First come, first served: Mammalian recombination is timed to replication.

Halliwell, Jason A; Hoffmann, Eva R.

Cell ; 184(16): 4112-4114, 2021 08 05.

Artigo em Inglês | MEDLINE | ID: mdl-34358467

2.

Cas9 in Human Embryos: On Target but No Repair.

Hoffmann, Eva R; Roig, Ignasi.

Cell ; 183(6): 1464-1466, 2020 12 10.

Artigo em Inglês | MEDLINE | ID: mdl-33306952

3.

Errors of the Egg: The Establishment and Progression of Human Aneuploidy Research in the Maternal Germline.

Gruhn, Jennifer R; Hoffmann, Eva R.

Annu Rev Genet ; 56: 369-390, 2022 11 30.

Artigo em Inglês | MEDLINE | ID: mdl-36055648

4.

Regulation of the MLH1-MLH3 endonuclease in meiosis.

Cannavo, Elda; Sanchez, Aurore; Anand, Roopesh; Ranjha, Lepakshi; Hugener, Jannik; Adam, Céline; Acharya, Ananya; Weyland, Nicolas; Aran-Guiu, Xavier; Charbonnier, Jean-Baptiste; Hoffmann, Eva R; Borde, Valérie; Matos, Joao; Cejka, Petr.

Nature ; 586(7830): 618-622, 2020 10.

Artigo em Inglês | MEDLINE | ID: mdl-32814904

5.

CHK1-CDC25A-CDK1 regulate cell cycle progression and protect genome integrity in early mouse embryos.

Knoblochova, Lucie; Duricek, Tomas; Vaskovicova, Michaela; Zorzompokou, Chrysoula; Rayova, Diana; Ferencova, Ivana; Baran, Vladimir; Schultz, Richard M; Hoffmann, Eva R; Drutovic, David.

EMBO Rep ; 24(10): e56530, 2023 Oct 09.

Artigo em Inglês | MEDLINE | ID: mdl-37694680

6.

Genetic predisposition to mosaic Y chromosome loss in blood.

Thompson, Deborah J; Genovese, Giulio; Halvardson, Jonatan; Ulirsch, Jacob C; Wright, Daniel J; Terao, Chikashi; Davidsson, Olafur B; Day, Felix R; Sulem, Patrick; Jiang, Yunxuan; Danielsson, Marcus; Davies, Hanna; Dennis, Joe; Dunlop, Malcolm G; Easton, Douglas F; Fisher, Victoria A; Zink, Florian; Houlston, Richard S; Ingelsson, Martin; Kar, Siddhartha; Kerrison, Nicola D; Kinnersley, Ben; Kristjansson, Ragnar P; Law, Philip J; Li, Rong; Loveday, Chey; Mattisson, Jonas; McCarroll, Steven A; Murakami, Yoshinori; Murray, Anna; Olszewski, Pawel; Rychlicka-Buniowska, Edyta; Scott, Robert A; Thorsteinsdottir, Unnur; Tomlinson, Ian; Moghadam, Behrooz Torabi; Turnbull, Clare; Wareham, Nicholas J; Gudbjartsson, Daniel F; Kamatani, Yoichiro; Hoffmann, Eva R; Jackson, Steve P; Stefansson, Kari; Auton, Adam; Ong, Ken K; Machiela, Mitchell J; Loh, Po-Ru; Dumanski, Jan P; Chanock, Stephen J; Forsberg, Lars A.

Nature ; 575(7784): 652-657, 2019 11.

Artigo em Inglês | MEDLINE | ID: mdl-31748747

7.

Cell-free fetal DNA for genetic evaluation in Copenhagen Pregnancy Loss Study (COPL): a prospective cohort study.

Schlaikjær Hartwig, Tanja; Ambye, Louise; Gruhn, Jennifer R; Petersen, Jesper Friis; Wrønding, Tine; Amato, Letizia; Chi-Ho Chan, Andrew; Ji, Boyang; Bro-Jørgensen, Maiken Hemme; Werge, Lene; Petersen, Mette Marie Babiel Schmidt; Brinkmann, Clara; Petersen, Julie Birch; Dunø, Morten; Bache, Iben; Herrgård, Markus J; Jørgensen, Finn Stener; Hoffmann, Eva R; Nielsen, Henriette Svarre.

Lancet ; 401(10378): 762-771, 2023 03 04.

Artigo em Inglês | MEDLINE | ID: mdl-36739882

8.

Results from the first autologous grafting of adult human testis tissue: a case report.

Jensen, Christian Fuglesang S; Mamsen, Linn Salto; Wang, Danyang; Fode, Mikkel; Giwercman, Aleksander; Jørgensen, Niels; Ohl, Dana A; Fedder, Jens; Hoffmann, Eva R; Yding Andersen, Claus; Sønksen, Jens.

Hum Reprod ; 39(2): 303-309, 2024 Feb 01.

Artigo em Inglês | MEDLINE | ID: mdl-38140699

9.

Genome diversity and instability in human germ cells and preimplantation embryos.

Shukla, Vallari; Høffding, Miya Kudo; Hoffmann, Eva R.

Semin Cell Dev Biol ; 113: 132-147, 2021 05.

Artigo em Inglês | MEDLINE | ID: mdl-33500205

10.

Childhood BMI after ART with frozen embryo transfer.

Asserhøj, Louise Laub; Mizrak, Ikram; Heldarskard, Gerda Ferja; Clausen, Tine Dalsgaard; Hoffmann, Eva R; Greisen, Gorm; Main, Katharina M; Madsen, Per Lav; Jensen, Rikke Beck; Pinborg, Anja.

Hum Reprod ; 38(8): 1578-1589, 2023 Aug 01.

Artigo em Inglês | MEDLINE | ID: mdl-37349895

11.

Maternal exome analysis for the diagnosis of oocyte maturation defects and early embryonic developmental arrest.

Capalbo, Antonio; Buonaiuto, Silvia; Figliuzzi, Matteo; Damaggio, Gianluca; Girardi, Laura; Caroselli, Silvia; Poli, Maurizio; Patassini, Cristina; Cetinkaya, Murat; Yuksel, Beril; Azad, Ajuna; Grøndahl, Marie Louise; Hoffmann, Eva R; Simón, Carlos; Colonna, Vincenza; Kahraman, Semra.

Reprod Biomed Online ; 45(3): 508-518, 2022 09.

Artigo em Inglês | MEDLINE | ID: mdl-35798635

12.

Publisher Correction: Regulation of the MLH1-MLH3 endonuclease in meiosis.

Cannavo, Elda; Sanchez, Aurore; Anand, Roopesh; Ranjha, Lepakshi; Hugener, Jannik; Adam, Céline; Acharya, Ananya; Weyland, Nicolas; Aran-Guiu, Xavier; Charbonnier, Jean-Baptiste; Hoffmann, Eva R; Borde, Valérie; Matos, Joao; Cejka, Petr.

Nature ; 590(7844): E29, 2021 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-33469227

13.

Chromosomal mosaicism: Origins and clinical implications in preimplantation and prenatal diagnosis.

Levy, Brynn; Hoffmann, Eva R; McCoy, Rajiv C; Grati, Francesca R.

Prenat Diagn ; 41(5): 631-641, 2021 04.

Artigo em Inglês | MEDLINE | ID: mdl-33720449

14.

Origins and mechanisms leading to aneuploidy in human eggs.

Wartosch, Lena; Schindler, Karen; Schuh, Melina; Gruhn, Jennifer R; Hoffmann, Eva R; McCoy, Rajiv C; Xing, Jinchuan.

Prenat Diagn ; 41(5): 620-630, 2021 04.

Artigo em Inglês | MEDLINE | ID: mdl-33860956

15.

Tripolar chromosome segregation drives the association between maternal genotype at variants spanning PLK4 and aneuploidy in human preimplantation embryos.

McCoy, Rajiv C; Newnham, Louise J; Ottolini, Christian S; Hoffmann, Eva R; Chatzimeletiou, Katerina; Cornejo, Omar E; Zhan, Qiansheng; Zaninovic, Nikica; Rosenwaks, Zev; Petrov, Dmitri A; Demko, Zachary P; Sigurjonsson, Styrmir; Handyside, Alan H.

Hum Mol Genet ; 27(14): 2573-2585, 2018 07 15.

Artigo em Inglês | MEDLINE | ID: mdl-29688390

16.

SureTypeSC-a Random Forest and Gaussian mixture predictor of high confidence genotypes in single-cell data.

Vogel, Ivan; Blanshard, Robert C; Hoffmann, Eva R.

Bioinformatics ; 35(23): 5055-5062, 2019 12 01.

Artigo em Inglês | MEDLINE | ID: mdl-31116387

17.

Xeno-Free Propagation of Spermatogonial Stem Cells from Infant Boys.

Dong, Lihua; Gul, Murat; Hildorf, Simone; Pors, Susanne Elisabeth; Kristensen, Stine Gry; Hoffmann, Eva R; Cortes, Dina; Thorup, Jorgen; Andersen, Claus Yding.

Int J Mol Sci ; 20(21)2019 Oct 29.

Artigo em Inglês | MEDLINE | ID: mdl-31671863

18.

Blood pressure and lipid profiles in children born after ART with frozen embryo transfer.

Asserhøj, Louise Laub; Mizrak, Ikram; Lebech Kjaer, Anna Sophie; Clausen, Tine Dalsgaard; Hoffmann, Eva R; Greisen, Gorm; Main, Katharina M; Madsen, Per Lav; Pinborg, Anja; Jensen, Rikke Beck.

Hum Reprod Open ; 2024(2): hoae016, 2024.

Artigo em Inglês | MEDLINE | ID: mdl-38600915

19.

Variant in the synaptonemal complex protein SYCE2 associates with pregnancy loss through effect on recombination.

Steinthorsdottir, Valgerdur; Halldorsson, Bjarni V; Jonsson, Hakon; Palsson, Gunnar; Oddsson, Asmundur; Westergaard, David; Arnadottir, Gudny A; Stefansdottir, Lilja; Banasik, Karina; Esplin, M Sean; Hansen, Thomas Folkmann; Brunak, Søren; Nyegaard, Mette; Ostrowski, Sisse Rye; Pedersen, Ole Birger Vesterager; Erikstrup, Christian; Thorleifsson, Gudmar; Nadauld, Lincoln D; Haraldsson, Asgeir; Steingrimsdottir, Thora; Tryggvadottir, Laufey; Jonsdottir, Ingileif; Gudbjartsson, Daniel F; Hoffmann, Eva R; Sulem, Patrick; Holm, Hilma; Nielsen, Henriette Svarre; Stefansson, Kari.

Nat Struct Mol Biol ; 31(4): 710-716, 2024 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-38287193

20.

Pan-cancer association of DNA repair deficiencies with whole-genome mutational patterns.

Sørensen, Simon Grund; Shrikhande, Amruta; Poulsgaard, Gustav Alexander; Christensen, Mikkel Hovden; Bertl, Johanna; Laursen, Britt Elmedal; Hoffmann, Eva R; Pedersen, Jakob Skou.

Elife ; 122023 03 08.

Artigo em Inglês | MEDLINE | ID: mdl-36883553

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