Literature DB >> 12975792

First postnatal case of mosaic del(22)/r(22).

Heike Starke, Beate Mitulla, Volkmar Beensen, Vladimir Trifonov, Nikolai Rubtsov, Anita Heller, Monika Ziegler, Annett Neumann, Uwe Claussen, Thomas Liehr.   

Abstract

Mesh：

Year:  2003        PMID： 12975792     DOI： 10.1002/pd.666

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


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  2 in total

1.  Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion.

Authors:  Maria Clara Bonaglia; Roberto Giorda; Silvana Beri; Stefania Bigoni; Alberto Sensi; Anna Baroncini; Antonella Capucci; Cristina De Agostini; Rhian Gwilliam; Panos Deloukas; Ian Dunham; Orsetta Zuffardi
Journal:  Eur J Hum Genet       Date:  2008-10-15       Impact factor: 4.246

2.  Diagnosis of chromosomal abnormalities in a patient with thanatophoric dysplasia (TD) type I: The first report describing an important association between cytogenetic findings and TD.

Authors:  Mehmet Turgut; Osman Demirhan; Erdal Tunc; Ibrahim Hakan Bucak; Perihan Yasemen Canoz; Fatih Temiz; Gokhan Tumgor
Journal:  Am J Case Rep       Date:  2012-06-13
  2 in total

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