Literature DB >> 34899141

Balanced at First Sight, but in Reality out of Balance.

Martin Poot.   

Abstract

Entities:  

Year:  2021        PMID： 34899141      PMCID： PMC8613578          DOI： 10.1159/000519174

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


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  13 in total

1.  Ten years follow up of a boy with a complex chromosomal rearrangement: going from a > 5 to 15-breakpoint CCR.

Authors:  Gunnar Houge; Thomas Liehr; Jacqueline Schoumans; Gro O Ness; Kjetil Solland; Heike Starke; Uwe Claussen; Petter Strømme; Bjug Akre; Stefan Vermeulen
Journal:  Am J Med Genet A       Date:  2003-04-30       Impact factor: 2.802

2.  Three de novo losses and one insertion within a pericentric inversion of chromosome 6 in a patient with complete absence of expressive speech and reduced pain perception.

Authors:  Martin Poot; Ruben van't Slot; Romina Leupert; Vera Beyer; Eberhard Passarge; Thomas Haaf
Journal:  Eur J Med Genet       Date:  2008-11-19       Impact factor: 2.708

3.  Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints.

Authors:  Scott Newman; Karen E Hermetz; Brooke Weckselblatt; M Katharine Rudd
Journal:  Am J Hum Genet       Date:  2015-01-29       Impact factor: 11.025

4.  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 5.  Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Authors:  David T Miller; Margaret P Adam; Swaroop Aradhya; Leslie G Biesecker; Arthur R Brothman; Nigel P Carter; Deanna M Church; John A Crolla; Evan E Eichler; Charles J Epstein; W Andrew Faucett; Lars Feuk; Jan M Friedman; Ada Hamosh; Laird Jackson; Erin B Kaminsky; Klaas Kok; Ian D Krantz; Robert M Kuhn; Charles Lee; James M Ostell; Carla Rosenberg; Stephen W Scherer; Nancy B Spinner; Dimitri J Stavropoulos; James H Tepperberg; Erik C Thorland; Joris R Vermeesch; Darrel J Waggoner; Michael S Watson; Christa Lese Martin; David H Ledbetter
Journal:  Am J Hum Genet       Date:  2010-05-14       Impact factor: 11.025

Review 6.  Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.

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

7.  An Apparently Balanced Complex Chromosome Rearrangement Involving Seven Breaks and Four Chromosomes in a Healthy Female and Segregation/Recombination in Her Affected Son.

Authors:  Ana Eduarda Campos; Carla Rosenberg; Ana Krepischi; Marina França; Vanessa Lopes; Viviane Nakano; Tânia Vertemati; Marcos Cochak; Michele Migliavacca; Fernanda Milanezi; Ana Cristina Sousa; Juliana Silva; Lígia Vieira; Priscilla Monfredini; Ana Carolina Palumbo; Jonathas Fernandes; Eduardo Perrone
Journal:  Mol Syndromol       Date:  2021-07-15

8.  Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?

Authors:  Nehir Edibe Kurtas; Luciano Xumerle; Ursula Giussani; Alessandra Pansa; Laura Cardarelli; Veronica Bertini; Angelo Valetto; Thomas Liehr; Maria Clara Bonaglia; Edoardo Errichiello; Massimo Delledonne; Orsetta Zuffardi
Journal:  Mol Genet Genomic Med       Date:  2018-12-18       Impact factor: 2.183

9.  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

10.  Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement.

Authors:  Constantia Aristidou; Athina Theodosiou; Andria Ketoni; Mads Bak; Mana M Mehrjouy; Niels Tommerup; Carolina Sismani
Journal:  Mol Cytogenet       Date:  2018-06-07       Impact factor: 2.009
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