Literature DB >> 12920085

Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event.

J R Vermeesch, R Thoelen, I Salden, M Raes, G Matthijs, J-P Fryns.   

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Year:  2003        PMID： 12920085      PMCID： PMC1735569          DOI： 10.1136/jmg.40.8.e93

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  7 in total

1.  Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture.

Authors:  R Ciccone; T Mattina; R Giorda; M C Bonaglia; M Rocchi; T Pramparo; O Zuffardi
Journal:  J Med Genet       Date:  2006-05       Impact factor: 6.318

2.  Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation.

Authors:  Elyes Chabchoub; Laura Rodríguez; Enrique Galán; Elena Mansilla; Maria Luisa Martínez-Fernandez; Maria Luisa Martínez-Frías; Jean-Pierre Fryns; Joris Robert Vermeesch
Journal:  J Med Genet       Date:  2006-12-15       Impact factor: 6.318

3.  Genomic profile of copy number variants on the short arm of human chromosome 8.

Authors:  Shihui Yu; Stephanie Fiedler; Andrew Stegner; William D Graf
Journal:  Eur J Hum Genet       Date:  2010-05-12       Impact factor: 4.246

4.  Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report.

Authors:  Dilek Aktas; Anja Weise; Eda Utine; Dursun Alehan; Kristin Mrasek; Ferdinand von Eggeling; Heike Thieme; Ergul Tuncbilek; Thomas Liehr
Journal:  Mol Cytogenet       Date:  2009-06-30       Impact factor: 2.009

Review 5.  Chromosomal phenotypes and submicroscopic abnormalities.

Authors:  Koen Devriendt; Joris R Vermeesch
Journal:  Hum Genomics       Date:  2004-01       Impact factor: 4.639

6.  A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC).

Authors:  Justyna Domaradzka; Marta Deperas; Ewa Obersztyn; Anna Kucińska-Chahwan; Nathalie Brison; Kris Van Den Bogaert; Tomasz Roszkowski; Marta Kędzior; Magdalena Bartnik-Głaska; Alicja Łuszczek; Krystyna Jakubów-Durska; Joris Robert Vermeesch; Beata Anna Nowakowska
Journal:  Mol Cytogenet       Date:  2021-03-15       Impact factor: 2.009

7.  Two mosaic terminal inverted duplications arising post-zygotically: Evidence for possible formation of neo-telomeres.

Authors:  Art Daniel; Luke St Heaps; Dianne Sylvester; Sara Diaz; Gregory Peters
Journal:  Cell Chromosome       Date:  2008-03-10
  7 in total

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