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Classic Bladder Exs...
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Draaken, MarkusInstitute of Human Genetics, University of Bonn, Germany
(author)
Classic Bladder Exstrophy: Frequent 22q11.21 Duplications and Definition of a 414 kb Phenocritical Region
- Article/chapterEnglish2014
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LIBRIS-ID:oai:lup.lub.lu.se:e51970ce-497a-4686-b532-1fd5f7a26d0c
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https://lup.lub.lu.se/record/4609206URI
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https://doi.org/10.1002/bdra.23249DOI
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-279323URI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:129246667URI
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Language:English
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Summary in:English
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Subject category:art swepub-publicationtype
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Subject category:ref swepub-contenttype
Notes
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Background: Classic bladder exstrophy (CBE) is the most common form of the bladder exstrophy and epispadias complex. Previously, we and others have identified four patients with a duplication of 22q11.21 among a total of 96 unrelated CBE patients. Methods: Here, we investigated whether this chromosomal aberration was commonly associated with CBE/bladder exstrophy and epispadias complex in an extended case-control sample. Multiplex ligation-dependent probe amplification and microarray-based analysis were used to identify 22q11.21 duplications in 244 unrelated bladder exstrophy and epispadias complex patients (including 217 CBE patients) and 665 healthy controls. Results: New duplications of variable size were identified in four CBE patients and one control. Pooling of our previous and present data (eight duplications in 313 CBE patients) yielded a combined odds ratio of 31.86 (95% confidence interval, 4.24-1407.97). Array-based sequence capture and high-throughput targeted re-sequencing established that all breakpoints resided within the low-copy repeats 22A to 22D. Comparison of the eight duplications revealed a 414 kb phenocritical region harboring 12 validated RefSeq genes. Characterization of these 12 candidate genes through whole-mount in situ hybridization of mouse embryos at embryonic day 9.5 suggested that CRKL, THAP7, and LZTR1 are CBE candidate genes. Conclusion: Our data suggest that duplication of 22q11.21 increases CBE risk and implicate a phenocritical region in disease formation. (C) 2014 Wiley Periodicals, Inc.
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Baudisch, Friederike
(author)
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Timmermann, Bernd
(author)
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Kuhl, Heiner
(author)
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Kerick, Martin
(author)
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Proske, Judith
(author)
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Wittler, Lars
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Pennimpede, Tracie
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Ebert, Anne-Karoline
(author)
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Roesch, Wolfgang
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Stein, Raimund
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Bartels, Enrika
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von Lowtzow, Catharina
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Boemers, Thomas M.
(author)
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Herms, Stefan
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Gearhart, John P.
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Lakshmanan, Yegappan
(author)
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Clementson Kockum, ChristinaLund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)med-ccm
(author)
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Holmdahl, GundelaKarolinska Institutet
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Läckgren, GöranUppsala universitet,Institutionen för kvinnors och barns hälsa,Barnkirurgi/Christofferson(Swepub:uu)goralack
(author)
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Nordenskjold, AgnethaKarolinska Institutet
(author)
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Boyadjiev, Simeon A.
(author)
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Herrmann, Bernhard G.
(author)
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Noethen, Markus M.
(author)
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Ludwig, Michael
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Reutter, HeikoInstitute of Human Genetics, University of Bonn, Germany
(author)
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Institute of Human Genetics, University of Bonn, GermanyPediatrik, Lund
(creator_code:org_t)
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In:Birth Defects Research. Part A: Clinical and Molecular Teratology: Wiley100:6, s. 512-5171542-07601542-0752
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Draaken, Markus
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Baudisch, Friede ...
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Timmermann, Bern ...
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Kuhl, Heiner
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Kerick, Martin
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Proske, Judith
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Wittler, Lars
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Pennimpede, Trac ...
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Ebert, Anne-Karo ...
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Roesch, Wolfgang
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Stein, Raimund
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Bartels, Enrika
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von Lowtzow, Cat ...
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Boemers, Thomas ...
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Herms, Stefan
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Gearhart, John P ...
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Lakshmanan, Yega ...
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Clementson Kocku ...
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Holmdahl, Gundel ...
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Läckgren, Göran
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Nordenskjold, Ag ...
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Boyadjiev, Simeo ...
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Herrmann, Bernha ...
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Noethen, Markus ...
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Ludwig, Michael
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Reutter, Heiko
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