Literature DB >> 27385960

The Growing Complexity of the Monosomy 1p36 Syndrome.

Martin Poot.   

Abstract

Year:  2016        PMID： 27385960      PMCID： PMC4906433          DOI： 10.1159/000445138

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


× No keyword cloud information.
  18 in total

1.  Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions.

Authors:  Blake C Ballif; Wei Yu; Chad A Shaw; Catherine D Kashork; Lisa G Shaffer
Journal:  Hum Mol Genet       Date:  2003-07-15       Impact factor: 6.150

2.  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

Review 3.  Criteria for inference of chromothripsis in cancer genomes.

Authors:  Jan O Korbel; Peter J Campbell
Journal:  Cell       Date:  2013-03-14       Impact factor: 41.582

Review 4.  Monosomy 1p36.

Authors:  A Slavotinek; L G Shaffer; S K Shapira
Journal:  J Med Genet       Date:  1999-09       Impact factor: 6.318

5.  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

6.  Chromothripsis and Kataegis Induced by Telomere Crisis.

Authors:  John Maciejowski; Yilong Li; Nazario Bosco; Peter J Campbell; Titia de Lange
Journal:  Cell       Date:  2015-12-17       Impact factor: 41.582

Review 7.  Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.

Authors:  Martin Poot; Thomas Haaf
Journal:  Mol Syndromol       Date:  2015-08-15

8.  Characterization of a complex rearrangement involving duplication and deletion of 9p in an infant with craniofacial dysmorphism and cardiac anomalies.

Authors:  Daniel L Di Bartolo; Mohamed El Naggar; Renius Owen; Trilochan Sahoo; Fred Gilbert; Venkat R Pulijaal; Susan Mathew
Journal:  Mol Cytogenet       Date:  2012-07-09       Impact factor: 2.009

Review 9.  1p36 deletion syndrome: an update.

Authors:  Valerie K Jordan; Hitisha P Zaveri; Daryl A Scott
Journal:  Appl Clin Genet       Date:  2015-08-27

10.  A coalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5.

Authors:  Danijela Krgovic; Ana Blatnik; Ante Burmas; Andreja Zagorac; Nadja Kokalj Vokac
Journal:  BMC Med Genet       Date:  2014-02-11       Impact factor: 2.103
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.