Literature DB >> 8634722

Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome.

A Levy1, S Demczuk, A Aurias, D Depétris, M G Mattei, N Philip.   

Abstract

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Year:  1995        PMID： 8634722     DOI： 10.1093/hmg/4.12.2417

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  21 in total

1.  AT-rich palindromes mediate the constitutional t(11;22) translocation.

Authors:  L Edelmann; E Spiteri; K Koren; V Pulijaal; M G Bialer; A Shanske; R Goldberg; B E Morrow
Journal:  Am J Hum Genet       Date:  2000-11-28       Impact factor: 11.025

2.  Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients.

Authors:  C Carlson; H Sirotkin; R Pandita; R Goldberg; J McKie; R Wadey; S R Patanjali; S M Weissman; K Anyane-Yeboa; D Warburton; P Scambler; R Shprintzen; R Kucherlapati; B E Morrow
Journal:  Am J Hum Genet       Date:  1997-09       Impact factor: 11.025

3.  Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome.

Authors:  Rosanna Weksberg; Andrea C Stachon; Jeremy A Squire; Laura Moldovan; Jane Bayani; Stephen Meyn; Eva Chow; Anne S Bassett
Journal:  Hum Genet       Date:  2006-10-07       Impact factor: 4.132

4.  Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome.

Authors:  H F Sutherland; R Wadey; J M McKie; C Taylor; U Atif; K A Johnstone; S Halford; U J Kim; J Goodship; A Baldini; P J Scambler
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

5.  Goosecoid-like sequences and the smallest region of deletion overlap in DiGeorge and velocardiofacial syndromes.

Authors:  A Pragliola; V Jurecic; C K Chau; N Philip; A Baldini
Journal:  Am J Hum Genet       Date:  1997-12       Impact factor: 11.025

6.  Cloning and mapping of murine Dgcr2 and its homology to the Sez-12 seizure-related protein.

Authors:  C Taylor; R Wadey; H O'Donnell; C Roberts; M G Mattei; W L Kimber; A Wynshaw-Boris; P J Scambler
Journal:  Mamm Genome       Date:  1997-05       Impact factor: 2.957

7.  Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.

Authors:  Lisanne Vervoort; Wolfram Demaerel; Laura Y Rengifo; Adrian Odrzywolski; Elfi Vergaelen; Matthew S Hestand; Jeroen Breckpot; Koen Devriendt; Ann Swillen; Donna M McDonald-McGinn; Ania M Fiksinski; Janneke R Zinkstok; Bernice E Morrow; Tracy Heung; Jacob A S Vorstman; Anne S Bassett; Eva W C Chow; Vandana Shashi; Joris R Vermeesch
Journal:  Hum Mol Genet       Date:  2019-11-15       Impact factor: 6.150

8.  Core histones and HIRIP3, a novel histone-binding protein, directly interact with WD repeat protein HIRA.

Authors:  S Lorain; J P Quivy; F Monier-Gavelle; C Scamps; Y Lécluse; G Almouzni; M Lipinski
Journal:  Mol Cell Biol       Date:  1998-09       Impact factor: 4.272

9.  Direct selection of conserved cDNAs from the DiGeorge critical region: isolation of a novel CDC45-like gene.

Authors:  J M McKie; R B Wadey; H F Sutherland; C L Taylor; P J Scambler
Journal:  Genome Res       Date:  1998-08       Impact factor: 9.043

10.  Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum.

Authors:  Sintia Iole Nogueira; April M Hacker; Fernanda T S Bellucco; Denise M Christofolini; Leslie Domenici Kulikowski; Mirlene C S P Cernach; Beverly S Emanuel; Maria Isabel Melaragno
Journal:  Eur J Med Genet       Date:  2008-02-08       Impact factor: 2.708
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