Literature DB >> 23112751

Chromothripsis Challenges the Germline.

M Poot.   

Abstract

Year:  2012        PMID： 23112751      PMCID： PMC3473352          DOI： 10.1159/000341255

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN： 1661-8769


× No keyword cloud information.
  17 in total

Review 1.  Computational methods for discovering structural variation with next-generation sequencing.

Authors:  Paul Medvedev; Monica Stanciu; Michael Brudno
Journal:  Nat Methods       Date:  2009-11       Impact factor: 28.547

Review 2.  Mechanisms for recurrent and complex human genomic rearrangements.

Authors:  Pengfei Liu; Claudia M B Carvalho; P J Hastings; James R Lupski
Journal:  Curr Opin Genet Dev       Date:  2012-03-20       Impact factor: 5.578

3.  Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms.

Authors:  Wigard P Kloosterman; Masoumeh Tavakoli-Yaraki; Markus J van Roosmalen; Ellen van Binsbergen; Ivo Renkens; Karen Duran; Lucia Ballarati; Sarah Vergult; Daniela Giardino; Kerstin Hansson; Claudia A L Ruivenkamp; Myrthe Jager; Arie van Haeringen; Elly F Ippel; Thomas Haaf; Eberhard Passarge; Ron Hochstenbach; Björn Menten; Lidia Larizza; Victor Guryev; Martin Poot; Edwin Cuppen
Journal:  Cell Rep       Date:  2012-06-15       Impact factor: 9.423

4.  Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline.

Authors:  Wigard P Kloosterman; Victor Guryev; Mark van Roosmalen; Karen J Duran; Ewart de Bruijn; Saskia C M Bakker; Tom Letteboer; Bernadette van Nesselrooij; Ron Hochstenbach; Martin Poot; Edwin Cuppen
Journal:  Hum Mol Genet       Date:  2011-02-24       Impact factor: 6.150

Review 5.  Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research.

Authors:  R Hochstenbach; J E Buizer-Voskamp; J A S Vorstman; R A Ophoff
Journal:  Cytogenet Genome Res       Date:  2011-11-02       Impact factor: 1.636

6.  Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases.

Authors:  Caroline Schluth-Bolard; Bruno Delobel; Damien Sanlaville; Odile Boute; Jean-Marie Cuisset; Sylvie Sukno; Audrey Labalme; Bénédicte Duban-Bedu; Ghislaine Plessis; Sylvie Jaillard; Christèle Dubourg; Catherine Henry; Josette Lucas; Sylvie Odent; Laurent Pasquier; Henri Copin; Philippe Latour; Marie-Pierre Cordier; Gwenaël Nadeau; Marianne Till; Patrick Edery; Joris Andrieux
Journal:  Eur J Med Genet       Date:  2009-06-06       Impact factor: 2.708

7.  Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands.

Authors:  Ron Hochstenbach; Ellen van Binsbergen; John Engelen; Aggie Nieuwint; Abeltje Polstra; Pino Poddighe; Claudia Ruivenkamp; Birgit Sikkema-Raddatz; Dominique Smeets; Martin Poot
Journal:  Eur J Med Genet       Date:  2009-04-09       Impact factor: 2.708

8.  Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder.

Authors:  Martin Poot; Vera Beyer; Ira Schwaab; Natalja Damatova; Ruben Van't Slot; Jo Prothero; Sue E Holder; Thomas Haaf
Journal:  Neurogenetics       Date:  2009-07-07       Impact factor: 2.660

9.  Massive genomic rearrangement acquired in a single catastrophic event during cancer development.

Authors:  Philip J Stephens; Chris D Greenman; Beiyuan Fu; Fengtang Yang; Graham R Bignell; Laura J Mudie; Erin D Pleasance; King Wai Lau; David Beare; Lucy A Stebbings; Stuart McLaren; Meng-Lay Lin; David J McBride; Ignacio Varela; Serena Nik-Zainal; Catherine Leroy; Mingming Jia; Andrew Menzies; Adam P Butler; Jon W Teague; Michael A Quail; John Burton; Harold Swerdlow; Nigel P Carter; Laura A Morsberger; Christine Iacobuzio-Donahue; George A Follows; Anthony R Green; Adrienne M Flanagan; Michael R Stratton; P Andrew Futreal; Peter J Campbell
Journal:  Cell       Date:  2011-01-07       Impact factor: 41.582

10.  Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

Authors:  M De Gregori; R Ciccone; P Magini; T Pramparo; S Gimelli; J Messa; F Novara; A Vetro; E Rossi; P Maraschio; M C Bonaglia; C Anichini; G B Ferrero; M Silengo; E Fazzi; A Zatterale; R Fischetto; C Previderé; S Belli; A Turci; G Calabrese; F Bernardi; E Meneghelli; M Riegel; M Rocchi; S Guerneri; F Lalatta; L Zelante; C Romano; M Fichera; T Mattina; G Arrigo; M Zollino; S Giglio; F Lonardo; A Bonfante; A Ferlini; F Cifuentes; H Van Esch; L Backx; A Schinzel; J R Vermeesch; O Zuffardi
Journal:  J Med Genet       Date:  2007-08-31       Impact factor: 6.318
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.