Literature DB >> 9463325

Characterization of 10p deletions suggests two nonoverlapping regions contribute to the DiGeorge syndrome phenotype.

S Gottlieb, D A Driscoll, H H Punnett, B Sellinger, B S Emanuel, M L Budarf.   

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Year:  1998        PMID： 9463325      PMCID： PMC1376894          DOI： 10.1086/301718

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  13 in total

Review 1.  The molecular basis of vascular disorders.

Authors:  J A Towbin; B Casey; J Belmont
Journal:  Am J Hum Genet       Date:  1999-03       Impact factor: 11.025

Review 2.  An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14.

Authors:  P Lichtner; R König; T Hasegawa; H Van Esch; T Meitinger; S Schuffenhauer
Journal:  J Med Genet       Date:  2000-01       Impact factor: 6.318

3.  A girl with pervasive developmental disorder and complex chromosome rearrangement involving 8p and 10p.

Authors:  L Zwaigenbaum; L K Sonnenberg; T Heshka; S Eastwood; J Xu
Journal:  J Autism Dev Disord       Date:  2005-06

4.  Cleft lip/palate, short stature, and developmental delay in a boy with a 5.6-mb interstitial deletion involving 10p15.3p14.

Authors:  Bruno F Gamba; Carla Rosenberg; Silvia Costa; Antonio Richieri-Costa; Lucilene A Ribeiro-Bicudo
Journal:  Mol Syndromol       Date:  2015-01-22

5.  Recurrent microdeletions at chromosome 2p11.2 are associated with thymic hypoplasia and features resembling DiGeorge syndrome.

Authors:  Joshua D Bernstock; Arthur H Totten; Abdel G Elkahloun; Kory R Johnson; Anna C Hurst; Frederick Goldman; Andrew K Groves; Fady M Mikhail; T Prescott Atkinson
Journal:  J Allergy Clin Immunol       Date:  2019-10-07       Impact factor: 10.793

Review 6.  Developmental trajectories in 22q11.2 deletion.

Authors:  Ann Swillen; Donna McDonald-McGinn
Journal:  Am J Med Genet C Semin Med Genet       Date:  2015-05-18       Impact factor: 3.908

7.  Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer.

Authors:  Hiroyuki Yamagishi; Jun Maeda; Tonghuan Hu; John McAnally; Simon J Conway; Tsutomu Kume; Erik N Meyers; Chihiro Yamagishi; Deepak Srivastava
Journal:  Genes Dev       Date:  2003-01-15       Impact factor: 11.361

8.  Decreased embryonic retinoic acid synthesis results in a DiGeorge syndrome phenotype in newborn mice.

Authors:  Julien Vermot; Karen Niederreither; Jean-Marie Garnier; Pierre Chambon; Pascal Dollé
Journal:  Proc Natl Acad Sci U S A       Date:  2003-01-31       Impact factor: 11.205

Review 9.  The DiGeorge anomaly.

Authors:  R Hong
Journal:  Clin Rev Allergy Immunol       Date:  2001-02       Impact factor: 10.817

10.  An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome.

Authors:  Deborah U Frank; Lori K Fotheringham; Judson A Brewer; Louis J Muglia; Martin Tristani-Firouzi; Mario R Capecchi; Anne M Moon
Journal:  Development       Date:  2002-10       Impact factor: 6.868
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