Literature DB >> 5776756

[On 2 cases of spontaneous rupture of the aorta in pregnancy].

B Maurizio, B Menegale.   

Abstract

Mesh:

Year:  1969        PMID: 5776756

Source DB:  PubMed          Journal:  Minerva Ginecol        ISSN: 0026-4784


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  10 in total

Review 1.  Unravelling the complex genetics of common kidney diseases: from variants to mechanisms.

Authors:  Katie Marie Sullivan; Katalin Susztak
Journal:  Nat Rev Nephrol       Date:  2020-06-08       Impact factor: 28.314

2.  Genetic studies of urinary metabolites illuminate mechanisms of detoxification and excretion in humans.

Authors:  Pascal Schlosser; Yong Li; Peggy Sekula; Johannes Raffler; Franziska Grundner-Culemann; Maik Pietzner; Yurong Cheng; Matthias Wuttke; Inga Steinbrenner; Ulla T Schultheiss; Fruzsina Kotsis; Tim Kacprowski; Lukas Forer; Birgit Hausknecht; Arif B Ekici; Matthias Nauck; Uwe Völker; Gerd Walz; Peter J Oefner; Florian Kronenberg; Robert P Mohney; Michael Köttgen; Karsten Suhre; Kai-Uwe Eckardt; Gabi Kastenmüller; Anna Köttgen
Journal:  Nat Genet       Date:  2020-01-20       Impact factor: 38.330

3.  Genetic mechanisms of critical illness in COVID-19.

Authors:  Erola Pairo-Castineira; Sara Clohisey; Lucija Klaric; Andrew D Bretherick; Konrad Rawlik; Dorota Pasko; Susan Walker; Nick Parkinson; Max Head Fourman; Clark D Russell; James Furniss; Anne Richmond; Elvina Gountouna; Nicola Wrobel; David Harrison; Bo Wang; Yang Wu; Alison Meynert; Fiona Griffiths; Wilna Oosthuyzen; Athanasios Kousathanas; Loukas Moutsianas; Zhijian Yang; Ranran Zhai; Chenqing Zheng; Graeme Grimes; Rupert Beale; Jonathan Millar; Barbara Shih; Sean Keating; Marie Zechner; Chris Haley; David J Porteous; Caroline Hayward; Jian Yang; Julian Knight; Charlotte Summers; Manu Shankar-Hari; Paul Klenerman; Lance Turtle; Antonia Ho; Shona C Moore; Charles Hinds; Peter Horby; Alistair Nichol; David Maslove; Lowell Ling; Danny McAuley; Hugh Montgomery; Timothy Walsh; Alexandre C Pereira; Alessandra Renieri; Xia Shen; Chris P Ponting; Angie Fawkes; Albert Tenesa; Mark Caulfield; Richard Scott; Kathy Rowan; Lee Murphy; Peter J M Openshaw; Malcolm G Semple; Andrew Law; Veronique Vitart; James F Wilson; J Kenneth Baillie
Journal:  Nature       Date:  2020-12-11       Impact factor: 69.504

4.  Transcriptome-wide association study uncovers the role of essential genes in anthracycline-induced cardiotoxicity.

Authors:  Erika N Scott; Galen E B Wright; Britt I Drögemöller; Jafar S Hasbullah; Erandika P Gunaretnam; Fudan Miao; Amit P Bhavsar; Fei Shen; Bryan P Schneider; Bruce C Carleton; Colin J D Ross
Journal:  NPJ Genom Med       Date:  2021-05-21       Impact factor: 8.617

5.  Transcript expression-aware annotation improves rare variant interpretation.

Authors:  Beryl B Cummings; Konrad J Karczewski; Jack A Kosmicki; Eleanor G Seaby; Nicholas A Watts; Moriel Singer-Berk; Jonathan M Mudge; Juha Karjalainen; F Kyle Satterstrom; Anne H O'Donnell-Luria; Timothy Poterba; Cotton Seed; Matthew Solomonson; Jessica Alföldi; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2020-05-27       Impact factor: 49.962

6.  Genome-wide association study identifies 143 loci associated with 25 hydroxyvitamin D concentration.

Authors:  Naomi R Wray; John J McGrath; Joana A Revez; Tian Lin; Zhen Qiao; Angli Xue; Yan Holtz; Zhihong Zhu; Jian Zeng; Huanwei Wang; Julia Sidorenko; Kathryn E Kemper; Anna A E Vinkhuyzen; Julanne Frater; Darryl Eyles; Thomas H J Burne; Brittany Mitchell; Nicholas G Martin; Gu Zhu; Peter M Visscher; Jian Yang
Journal:  Nat Commun       Date:  2020-04-02       Impact factor: 14.919

7.  Massively parallel reporter assays of melanoma risk variants identify MX2 as a gene promoting melanoma.

Authors:  Jiyeon Choi; Tongwu Zhang; Andrew Vu; Julien Ablain; Matthew M Makowski; Leandro M Colli; Mai Xu; Rebecca C Hennessey; Jinhu Yin; Harriet Rothschild; Cathrin Gräwe; Michael A Kovacs; Karen M Funderburk; Myriam Brossard; John Taylor; Bogdan Pasaniuc; Raj Chari; Stephen J Chanock; Clive J Hoggart; Florence Demenais; Jennifer H Barrett; Matthew H Law; Mark M Iles; Kai Yu; Michiel Vermeulen; Leonard I Zon; Kevin M Brown
Journal:  Nat Commun       Date:  2020-06-01       Impact factor: 14.919

8.  Evaluating drug targets through human loss-of-function genetic variation.

Authors:  Eric Vallabh Minikel; Konrad J Karczewski; Hilary C Martin; Beryl B Cummings; Nicola Whiffin; Daniel Rhodes; Jessica Alföldi; Richard C Trembath; David A van Heel; Mark J Daly; Stuart L Schreiber; Daniel G MacArthur
Journal:  Nature       Date:  2020-05-27       Impact factor: 49.962

9.  Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism.

Authors:  Hyejung Won; Jason L Stein; Nana Matoba; Dan Liang; Huaigu Sun; Nil Aygün; Jessica C McAfee; Jessica E Davis; Laura M Raffield; Huijun Qian; Joseph Piven; Yun Li; Sriam Kosuri
Journal:  Transl Psychiatry       Date:  2020-08-03       Impact factor: 6.222

10.  The mutational constraint spectrum quantified from variation in 141,456 humans.

Authors:  Konrad J Karczewski; Laurent C Francioli; Grace Tiao; Beryl B Cummings; Jessica Alföldi; Qingbo Wang; Ryan L Collins; Kristen M Laricchia; Andrea Ganna; Daniel P Birnbaum; Laura D Gauthier; Harrison Brand; Matthew Solomonson; Nicholas A Watts; Daniel Rhodes; Moriel Singer-Berk; Eleina M England; Eleanor G Seaby; Jack A Kosmicki; Raymond K Walters; Katherine Tashman; Yossi Farjoun; Eric Banks; Timothy Poterba; Arcturus Wang; Cotton Seed; Nicola Whiffin; Jessica X Chong; Kaitlin E Samocha; Emma Pierce-Hoffman; Zachary Zappala; Anne H O'Donnell-Luria; Eric Vallabh Minikel; Ben Weisburd; Monkol Lek; James S Ware; Christopher Vittal; Irina M Armean; Louis Bergelson; Kristian Cibulskis; Kristen M Connolly; Miguel Covarrubias; Stacey Donnelly; Steven Ferriera; Stacey Gabriel; Jeff Gentry; Namrata Gupta; Thibault Jeandet; Diane Kaplan; Christopher Llanwarne; Ruchi Munshi; Sam Novod; Nikelle Petrillo; David Roazen; Valentin Ruano-Rubio; Andrea Saltzman; Molly Schleicher; Jose Soto; Kathleen Tibbetts; Charlotte Tolonen; Gordon Wade; Michael E Talkowski; Benjamin M Neale; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2020-05-27       Impact factor: 69.504

  10 in total

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