Literature DB >> 23559869

Many mosaic mutations.

W D Foulkes1, F X Real.   

Abstract

Year:  2013        PMID： 23559869      PMCID： PMC3615857          DOI： 10.3747/co.20.1449

Source DB:  PubMed          Journal:  Curr Oncol        ISSN： 1198-0052            Impact factor:   3.677


× No keyword cloud information.
  18 in total

1.  HRAS mutation mosaicism causing urothelial cancer and epidermal nevus.

Authors:  Christian Hafner; Agusti Toll; Francisco X Real
Journal:  N Engl J Med       Date:  2011-11-17       Impact factor: 91.245

2.  Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1).

Authors:  Ludwine Messiaen; Julia Vogt; Kathrin Bengesser; Chuanhua Fu; Fady Mikhail; Eduard Serra; Carles Garcia-Linares; David N Cooper; Conxi Lazaro; Hildegard Kehrer-Sawatzki
Journal:  Hum Mutat       Date:  2011-02       Impact factor: 4.878

3.  Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome.

Authors:  Benjamín Rodríguez-Santiago; Núria Malats; Nathaniel Rothman; Lluís Armengol; Montse Garcia-Closas; Manolis Kogevinas; Olaya Villa; Amy Hutchinson; Julie Earl; Gaëlle Marenne; Kevin Jacobs; Daniel Rico; Adonina Tardón; Alfredo Carrato; Gilles Thomas; Alfonso Valencia; Debra Silverman; Francisco X Real; Stephen J Chanock; Luis A Pérez-Jurado
Journal:  Am J Hum Genet       Date:  2010-07-09       Impact factor: 11.025

4.  The life history of 21 breast cancers.

Authors:  Serena Nik-Zainal; Peter Van Loo; David C Wedge; Ludmil B Alexandrov; Christopher D Greenman; King Wai Lau; Keiran Raine; David Jones; John Marshall; Manasa Ramakrishna; Adam Shlien; Susanna L Cooke; Jonathan Hinton; Andrew Menzies; Lucy A Stebbings; Catherine Leroy; Mingming Jia; Richard Rance; Laura J Mudie; Stephen J Gamble; Philip J Stephens; Stuart McLaren; Patrick S Tarpey; Elli Papaemmanuil; Helen R Davies; Ignacio Varela; David J McBride; Graham R Bignell; Kenric Leung; Adam P Butler; Jon W Teague; Sancha Martin; Goran Jönsson; Odette Mariani; Sandrine Boyault; Penelope Miron; Aquila Fatima; Anita Langerød; Samuel A J R Aparicio; Andrew Tutt; Anieta M Sieuwerts; Åke Borg; Gilles Thomas; Anne Vincent Salomon; Andrea L Richardson; Anne-Lise Børresen-Dale; P Andrew Futreal; Michael R Stratton; Peter J Campbell
Journal:  Cell       Date:  2012-05-17       Impact factor: 41.582

5.  Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia.

Authors:  Thomas Rio Frio; Josée Lavoie; Nancy Hamel; Felipe C Geyer; Yaël B Kushner; David J Novak; Landon Wark; Cristian Capelli; Jorge S Reis-Filho; Sabine Mai; Tomi Pastinen; Marc D Tischkowitz; Victoria A Marcus; William D Foulkes
Journal:  N Engl J Med       Date:  2010-12-30       Impact factor: 91.245

6.  Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.

Authors:  Mohammed S Orloff; Xin He; Charissa Peterson; Fusong Chen; Jin-Lian Chen; Jessica L Mester; Charis Eng
Journal:  Am J Hum Genet       Date:  2012-12-13       Impact factor: 11.025

7.  Detection of mosaic RB1 mutations in families with retinoblastoma.

Authors:  Diane Rushlow; Beata Piovesan; Katherine Zhang; Nadia L Prigoda-Lee; Mellone N Marchong; Robin D Clark; Brenda L Gallie
Journal:  Hum Mutat       Date:  2009-05       Impact factor: 4.878

8.  An update on age related mosaic and offspring risk in neurofibromatosis 2 (NF2).

Authors:  D G R Evans; A Wallace
Journal:  J Med Genet       Date:  2009-11       Impact factor: 6.318

9.  Somatic APC mosaicism: an underestimated cause of polyposis coli.

Authors:  F J Hes; M Nielsen; E C Bik; D Konvalinka; J T Wijnen; E Bakker; H F A Vasen; M H Breuning; C M J Tops
Journal:  Gut       Date:  2007-06-29       Impact factor: 23.059

10.  Detectable clonal mosaicism and its relationship to aging and cancer.

Authors:  Kevin B Jacobs; Meredith Yeager; Weiyin Zhou; Sholom Wacholder; Zhaoming Wang; Benjamin Rodriguez-Santiago; Amy Hutchinson; Xiang Deng; Chenwei Liu; Marie-Josephe Horner; Michael Cullen; Caroline G Epstein; Laurie Burdett; Michael C Dean; Nilanjan Chatterjee; Joshua Sampson; Charles C Chung; Joseph Kovaks; Susan M Gapstur; Victoria L Stevens; Lauren T Teras; Mia M Gaudet; Demetrius Albanes; Stephanie J Weinstein; Jarmo Virtamo; Philip R Taylor; Neal D Freedman; Christian C Abnet; Alisa M Goldstein; Nan Hu; Kai Yu; Jian-Min Yuan; Linda Liao; Ti Ding; You-Lin Qiao; Yu-Tang Gao; Woon-Puay Koh; Yong-Bing Xiang; Ze-Zhong Tang; Jin-Hu Fan; Melinda C Aldrich; Christopher Amos; William J Blot; Cathryn H Bock; Elizabeth M Gillanders; Curtis C Harris; Christopher A Haiman; Brian E Henderson; Laurence N Kolonel; Loic Le Marchand; Lorna H McNeill; Benjamin A Rybicki; Ann G Schwartz; Lisa B Signorello; Margaret R Spitz; John K Wiencke; Margaret Wrensch; Xifeng Wu; Krista A Zanetti; Regina G Ziegler; Jonine D Figueroa; Montserrat Garcia-Closas; Nuria Malats; Gaelle Marenne; Ludmila Prokunina-Olsson; Dalsu Baris; Molly Schwenn; Alison Johnson; Maria Teresa Landi; Lynn Goldin; Dario Consonni; Pier Alberto Bertazzi; Melissa Rotunno; Preetha Rajaraman; Ulrika Andersson; Laura E Beane Freeman; Christine D Berg; Julie E Buring; Mary A Butler; Tania Carreon; Maria Feychting; Anders Ahlbom; J Michael Gaziano; Graham G Giles; Goran Hallmans; Susan E Hankinson; Patricia Hartge; Roger Henriksson; Peter D Inskip; Christoffer Johansen; Annelie Landgren; Roberta McKean-Cowdin; Dominique S Michaud; Beatrice S Melin; Ulrike Peters; Avima M Ruder; Howard D Sesso; Gianluca Severi; Xiao-Ou Shu; Kala Visvanathan; Emily White; Alicja Wolk; Anne Zeleniuch-Jacquotte; Wei Zheng; Debra T Silverman; Manolis Kogevinas; Juan R Gonzalez; Olaya Villa; Donghui Li; Eric J Duell; Harvey A Risch; Sara H Olson; Charles Kooperberg; Brian M Wolpin; Li Jiao; Manal Hassan; William Wheeler; Alan A Arslan; H Bas Bueno-de-Mesquita; Charles S Fuchs; Steven Gallinger; Myron D Gross; Elizabeth A Holly; Alison P Klein; Andrea LaCroix; Margaret T Mandelson; Gloria Petersen; Marie-Christine Boutron-Ruault; Paige M Bracci; Federico Canzian; Kenneth Chang; Michelle Cotterchio; Edward L Giovannucci; Michael Goggins; Judith A Hoffman Bolton; Mazda Jenab; Kay-Tee Khaw; Vittorio Krogh; Robert C Kurtz; Robert R McWilliams; Julie B Mendelsohn; Kari G Rabe; Elio Riboli; Anne Tjønneland; Geoffrey S Tobias; Dimitrios Trichopoulos; Joanne W Elena; Herbert Yu; Laufey Amundadottir; Rachael Z Stolzenberg-Solomon; Peter Kraft; Fredrick Schumacher; Daniel Stram; Sharon A Savage; Lisa Mirabello; Irene L Andrulis; Jay S Wunder; Ana Patiño García; Luis Sierrasesúmaga; Donald A Barkauskas; Richard G Gorlick; Mark Purdue; Wong-Ho Chow; Lee E Moore; Kendra L Schwartz; Faith G Davis; Ann W Hsing; Sonja I Berndt; Amanda Black; Nicolas Wentzensen; Louise A Brinton; Jolanta Lissowska; Beata Peplonska; Katherine A McGlynn; Michael B Cook; Barry I Graubard; Christian P Kratz; Mark H Greene; Ralph L Erickson; David J Hunter; Gilles Thomas; Robert N Hoover; Francisco X Real; Joseph F Fraumeni; Neil E Caporaso; Margaret Tucker; Nathaniel Rothman; Luis A Pérez-Jurado; Stephen J Chanock
Journal:  Nat Genet       Date:  2012-05-06       Impact factor: 38.330
View more
  6 in total

1.  Asymmetric Contribution of Blastomere Lineages of First Division of the Zygote to Entire Human Body Using Post-Zygotic Variants.

Authors:  Seong Gyu Kwon; Geon Hue Bae; June Hyug Choi; Nanda Maya Mali; Mee Sook Jun; Dong Sun Kim; Man-Hoon Han; Seongyeol Park; Young Seok Ju; Seock Hwan Choi; Ji Won Oh
Journal:  Tissue Eng Regen Med       Date:  2022-04-19       Impact factor: 4.451

2.  Evidence-based clinical prioritization of embryos with mosaic results: a systematic review and meta-analysis.

Authors:  Ali Mourad; Roland Antaki; François Bissonnette; Obey Al Baini; Boutros Saadeh; Wael Jamal
Journal:  J Assist Reprod Genet       Date:  2021-09-02       Impact factor: 3.412

3.  Dual Deep Sequencing Improves the Accuracy of Low-Frequency Somatic Mutation Detection in Cancer Gene Panel Testing.

Authors:  Hiroki Ura; Sumihito Togi; Yo Niida
Journal:  Int J Mol Sci       Date:  2020-05-16       Impact factor: 5.923

4.  A simple method to estimate the in-house limit of detection for genetic mutations with low allele frequencies in whole-exome sequencing analysis by next-generation sequencing.

Authors:  Takumi Miura; Satoshi Yasuda; Yoji Sato
Journal:  BMC Genom Data       Date:  2021-02-18

5.  Effects of the timing of electroporation during in vitro maturation on triple gene editing in porcine embryos using CRISPR/Cas9 system.

Authors:  Zhao Namula; Manita Wittayarat; Lanh Thi Kim Do; Thanh Van Nguyen; Qingyi Lin; Koki Takebayashi; Maki Hirata; Fuminori Tanihara; Takeshige Otoi
Journal:  Vet Anim Sci       Date:  2022-02-28

Review 6.  A six-attribute classification of genetic mosaicism.

Authors:  Luis A Pérez-Jurado; Víctor L Ruiz Pérez; Antonio Torrelo; Nancy B Spinner; Rudolf Happle; Leslie G Biesecker; Pablo Lapunzina; Víctor Martínez-Glez; Jair Tenorio; Julián Nevado; Gema Gordo; Lara Rodríguez-Laguna; Marta Feito; Raúl de Lucas
Journal:  Genet Med       Date:  2020-07-14       Impact factor: 8.864
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.