Literature DB >> 16532473

Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

Donna M McDonald-McGinn, Anne Reilly, Carina Wallgren-Pettersson, H Eugene Hoyme, Samuel P Yang, Margaret P Adam, Elaine H Zackai, Kathleen E Sullivan.   

Abstract

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Year:  2006        PMID： 16532473     DOI： 10.1002/ajmg.a.31199

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  22 in total

1.  Temporal lobe pleomorphic xanthoastrocytoma and acquired BRAF mutation in an adolescent with the constitutional 22q11.2 deletion syndrome.

Authors:  Jeffrey C Murray; David J Donahue; Saleem I Malik; Yvette B Dzurik; Emily Z Braly; Margaret J Dougherty; Katherine W Eaton; Jaclyn A Biegel
Journal:  J Neurooncol       Date:  2010-08-21       Impact factor: 4.130

2.  Mitochondrial Citrate Transporter-dependent Metabolic Signature in the 22q11.2 Deletion Syndrome.

Authors:  Eleonora Napoli; Flora Tassone; Sarah Wong; Kathleen Angkustsiri; Tony J Simon; Gyu Song; Cecilia Giulivi
Journal:  J Biol Chem       Date:  2015-07-28       Impact factor: 5.157

3.  Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome.

Authors:  Daniel W Meechan; Eric S Tucker; Thomas M Maynard; Anthony-Samuel LaMantia
Journal:  Proc Natl Acad Sci U S A       Date:  2009-09-10       Impact factor: 11.205

4.  Genetic Insights into Cerebrovascular Disorders: A Comprehensive Review.

Authors:  Fawaz Al-Mufti; Ahmed Alkanaq; Krishna Amuluru; Rolla Nuoman; Ahmed Abdulrazzaq; Tamarah Sami; Halla Nuoaman; Caroline Hayes-Rosen; Charles J Prestigiacomo; Chirag D Gandhi
Journal:  J Vasc Interv Neurol       Date:  2017-10

Review 5.  Head and neck manifestations of 22q11.2 deletion syndromes.

Authors:  Tal Marom; Yehudah Roth; Abraham Goldfarb; Udi Cinamon
Journal:  Eur Arch Otorhinolaryngol       Date:  2011-08-23       Impact factor: 2.503

6.  DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.

Authors:  Barbara Rivera; Javad Nadaf; Somayyeh Fahiminiya; Maria Apellaniz-Ruiz; Avi Saskin; Anne-Sophie Chong; Sahil Sharma; Rabea Wagener; Timothée Revil; Vincenzo Condello; Zineb Harra; Nancy Hamel; Nelly Sabbaghian; Karl Muchantef; Christian Thomas; Leanne de Kock; Marie-Noëlle Hébert-Blouin; Angelia V Bassenden; Hannah Rabenstein; Ozgur Mete; Ralf Paschke; Marc P Pusztaszeri; Werner Paulus; Albert Berghuis; Jiannis Ragoussis; Yuri E Nikiforov; Reiner Siebert; Steffen Albrecht; Robert Turcotte; Martin Hasselblatt; Marc R Fabian; William D Foulkes
Journal:  J Clin Invest       Date:  2020-03-02       Impact factor: 14.808

Review 7.  Constitutional aneuploidy and cancer predisposition.

Authors:  Ithamar Ganmore; Gil Smooha; Shai Izraeli
Journal:  Hum Mol Genet       Date:  2009-04-15       Impact factor: 6.150

8.  Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11.2 microdeletion and partial DiGeorge syndrome.

Authors:  P Eberle; C Berger; S Junge; S Dougoud; E Valsangiacomo Büchel; M Riegel; A Schinzel; R Seger; T Güngör
Journal:  Clin Exp Immunol       Date:  2008-11-24       Impact factor: 4.330

Review 9.  22q11.2 deletion syndrome.

Authors:  Donna M McDonald-McGinn; Kathleen E Sullivan; Bruno Marino; Nicole Philip; Ann Swillen; Jacob A S Vorstman; Elaine H Zackai; Beverly S Emanuel; Joris R Vermeesch; Bernice E Morrow; Peter J Scambler; Anne S Bassett
Journal:  Nat Rev Dis Primers       Date:  2015-11-19       Impact factor: 52.329

10.  Proline oxidase, a p53-induced gene, targets COX-2/PGE2 signaling to induce apoptosis and inhibit tumor growth in colorectal cancers.

Authors:  Y Liu; G L Borchert; A Surazynski; J M Phang
Journal:  Oncogene       Date:  2008-09-15       Impact factor: 9.867
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