Literature DB >> 9199579

Detection of an atypical 22q11 deletion that has no overlap with the DiGeorge syndrome critical region.

H O'Donnell, C McKeown, C Gould, B Morrow, P Scambler.   

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Year:  1997        PMID： 9199579      PMCID： PMC1716117          DOI： 10.1016/S0002-9297(07)64250-5

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


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  16 in total

1.  A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11.

Authors:  W Gong; B S Emanuel; J Collins; D H Kim; Z Wang; F Chen; G Zhang; B Roe; M L Budarf
Journal:  Hum Mol Genet       Date:  1996-06       Impact factor: 6.150

2.  Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome.

Authors:  P J Scambler; A H Carey; R K Wyse; S Roach; J P Dumanski; M Nordenskjold; R Williamson
Journal:  Genomics       Date:  1991-05       Impact factor: 5.736

3.  Deletions within chromosome 22q11 in familial congenital heart disease.

Authors:  D I Wilson; J A Goodship; J Burn; I E Cross; P J Scambler
Journal:  Lancet       Date:  1992-09-05       Impact factor: 79.321

4.  Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11.

Authors:  J Burn; A Takao; D Wilson; I Cross; K Momma; R Wadey; P Scambler; J Goodship
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

5.  Relationship of the apolipoprotein E polymorphism with carotid artery atherosclerosis.

Authors:  M de Andrade; I Thandi; S Brown; A Gotto; W Patsch; E Boerwinkle
Journal:  Am J Hum Genet       Date:  1995-06       Impact factor: 11.025

6.  Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus.

Authors:  P J Scambler; D Kelly; E Lindsay; R Williamson; R Goldberg; R Shprintzen; D I Wilson; J A Goodship; I E Cross; J Burn
Journal:  Lancet       Date:  1992-05-09       Impact factor: 79.321

7.  Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome.

Authors:  R Wadey; S Daw; C Taylor; U Atif; S Kamath; S Halford; H O'Donnell; D Wilson; J Goodship; J Burn
Journal:  Hum Mol Genet       Date:  1995-06       Impact factor: 6.150

8.  Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.

Authors:  D A Driscoll; N B Spinner; M L Budarf; D M McDonald-McGinn; E H Zackai; R B Goldberg; R J Shprintzen; H M Saal; J Zonana; M C Jones
Journal:  Am J Med Genet       Date:  1992-09-15

9.  Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease.

Authors:  S Halford; R Wadey; C Roberts; S C Daw; J A Whiting; H O'Donnell; I Dunham; D Bentley; E Lindsay; A Baldini
Journal:  Hum Mol Genet       Date:  1993-12       Impact factor: 6.150

10.  Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity.

Authors:  S Demczuk; R Aledo; J Zucman; O Delattre; C Desmaze; L Dauphinot; P Jalbert; G A Rouleau; G Thomas; A Aurias
Journal:  Hum Mol Genet       Date:  1995-04       Impact factor: 6.150
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  13 in total

Review 1.  The neural crest in cardiac congenital anomalies.

Authors:  Anna Keyte; Mary Redmond Hutson
Journal:  Differentiation       Date:  2012-05-15       Impact factor: 3.880

2.  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

3.  Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11.

Authors:  B Funke; L Edelmann; N McCain; R K Pandita; J Ferreira; S Merscher; M Zohouri; L Cannizzaro; A Shanske; B E Morrow
Journal:  Am J Hum Genet       Date:  1999-03       Impact factor: 11.025

Review 4.  Genomic disorders on 22q11.

Authors:  Heather E McDermid; Bernice E Morrow
Journal:  Am J Hum Genet       Date:  2002-03-29       Impact factor: 11.025

5.  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

6.  Detailed analysis of 22q11.2 with a high density MLPA probe set.

Authors:  G R Jalali; J A S Vorstman; Ab Errami; R Vijzelaar; J Biegel; T Shaikh; B S Emanuel
Journal:  Hum Mutat       Date:  2008-03       Impact factor: 4.878

7.  22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.

Authors:  Shay Ben-Shachar; Zhishuo Ou; Chad A Shaw; John W Belmont; Millan S Patel; Marybeth Hummel; Stephen Amato; Nicole Tartaglia; Jonathan Berg; V Reid Sutton; Seema R Lalani; A Craig Chinault; Sau W Cheung; James R Lupski; Ankita Patel
Journal:  Am J Hum Genet       Date:  2008-01       Impact factor: 11.025

8.  Detection of copy number variants using chromosomal microarray analysis for the prenatal diagnosis of congenital heart defects with normal karyotype.

Authors:  Tingting Song; Shanning Wan; Yu Li; Ying Xu; Yinghui Dang; Yunyun Zheng; Chunyan Li; Jiao Zheng; Biliang Chen; Jianfang Zhang
Journal:  J Clin Lab Anal       Date:  2018-07-25       Impact factor: 2.352

9.  What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia.

Authors:  Ian M Campbell; Sarah E Sheppard; T Blaine Crowley; Daniel E McGinn; Alice Bailey; Michael J McGinn; Marta Unolt; Jelle F Homans; Erin Y Chen; Harold I Salmons; J William Gaynor; Elizabeth Goldmuntz; Oksana A Jackson; Lorraine E Katz; Maria R Mascarenhas; Vincent F X Deeney; René M Castelein; Karen B Zur; Lisa Elden; Staci Kallish; Thomas F Kolon; Sarah E Hopkins; Madeline A Chadehumbe; Michele P Lambert; Brian J Forbes; Julie S Moldenhauer; Erica M Schindewolf; Cynthia B Solot; Edward M Moss; Raquel E Gur; Kathleen E Sullivan; Beverly S Emanuel; Elaine H Zackai; Donna M McDonald-McGinn
Journal:  Am J Med Genet A       Date:  2018-10       Impact factor: 2.802

Review 10.  A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review.

Authors:  Luis Fernández; Julián Nevado; Fernando Santos; Damià Heine-Suñer; Victor Martinez-Glez; Sixto García-Miñaur; Rebeca Palomo; Alicia Delicado; Isidora López Pajares; María Palomares; Luis García-Guereta; Eva Valverde; Federico Hawkins; Pablo Lapunzina
Journal:  BMC Med Genet       Date:  2009-06-02       Impact factor: 2.103
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