Literature DB >> 8651317

Deletion mapping of 22q11 in CATCH22 syndrome: identification of a second critical region.

H Kurahashi, T Nakayama, Y Osugi, E Tsuda, M Masuno, K Imaizumi, T Kamiya, T Sano, S Okada, I Nishisho.   

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Year:  1996        PMID： 8651317      PMCID： PMC1915078     

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


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  15 in total

1.  DiGeorge syndrome and 22q11 rearrangements.

Authors:  S Augusseau; S Jouk; P Jalbert; M Prieur
Journal:  Hum Genet       Date:  1986-10       Impact factor: 4.132

2.  High resolution ordering of DNA markers by multi-color fluorescent in situ hybridization of prophase chromosomes.

Authors:  J Inazawa; T Ariyama; T Tokino; A Tanigami; Y Nakamura; T Abe
Journal:  Cytogenet Cell Genet       Date:  1994

3.  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

4.  DiGeorge syndrome: part of CATCH 22.

Authors:  D I Wilson; J Burn; P Scambler; J Goodship
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

5.  Structural aberrations of the long arm of chromosome no. 22. Report fo a family with translocation t(11;22) (q25;q11).

Authors:  W Fu; D S Borgaonkar; P P Ladewig; J Weaver; H H Pomerance
Journal:  Clin Genet       Date:  1976-12       Impact factor: 4.438

6.  Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome.

Authors:  S Halford; D I Wilson; S C Daw; C Roberts; R Wadey; S Kamath; A Wickremasinghe; J Burn; J Goodship; M G Mattei
Journal:  Hum Mol Genet       Date:  1993-10       Impact factor: 6.150

7.  Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene.

Authors:  M L Budarf; J Collins; W Gong; B Roe; Z Wang; L C Bailey; B Sellinger; D Michaud; D A Driscoll; B S Emanuel
Journal:  Nat Genet       Date:  1995-07       Impact factor: 38.330

8.  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

9.  Isolation and mapping of cosmid markers on human chromosome 22, including one within the submicroscopically deleted region of DiGeorge syndrome.

Authors:  H Kurahashi; K Akagi; K Karakawa; T Nakamura; J P Dumanski; T Sano; S Okada; S Takai; I Nishisho
Journal:  Hum Genet       Date:  1994-03       Impact factor: 4.132

10.  Submicroscopic deletions at 22q11.2: variability of the clinical picture and delineation of a commonly deleted region.

Authors:  E A Lindsay; F Greenberg; L G Shaffer; S K Shapira; P J Scambler; A Baldini
Journal:  Am J Med Genet       Date:  1995-03-27
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  20 in total

1.  Highly skewed X-chromosome inactivation is associated with idiopathic recurrent spontaneous abortion.

Authors:  M C Lanasa; W A Hogge; C Kubik; J Blancato; E P Hoffman
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

2.  Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow.

Authors:  Malgorzata Srebniak; Marjan Boter; Grétel Oudesluijs; Marieke Joosten; Lutgarde Govaerts; Diane Van Opstal; Robert-Jan H Galjaard
Journal:  Eur J Hum Genet       Date:  2011-06-22       Impact factor: 4.246

3.  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

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

Authors:  H O'Donnell; C McKeown; C Gould; B Morrow; P Scambler
Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025

Review 5.  22q11 deletion syndrome: a genetic subtype of schizophrenia.

Authors:  A S Bassett; E W Chow
Journal:  Biol Psychiatry       Date:  1999-10-01       Impact factor: 13.382

6.  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

7.  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

8.  A Hirschsprung disease locus at 22q11?

Authors:  W S Kerstjens-Frederikse; R M Hofstra; A J van Essen; J H Meijers; C H Buys
Journal:  J Med Genet       Date:  1999-03       Impact factor: 6.318

Review 9.  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

10.  Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.

Authors:  Jm Friedman; Shelin Adam; Laura Arbour; Linlea Armstrong; Agnes Baross; Patricia Birch; Cornelius Boerkoel; Susanna Chan; David Chai; Allen D Delaney; Stephane Flibotte; William T Gibson; Sylvie Langlois; Emmanuelle Lemyre; H Irene Li; Patrick MacLeod; Joan Mathers; Jacques L Michaud; Barbara C McGillivray; Millan S Patel; Hong Qian; Guy A Rouleau; Margot I Van Allen; Siu-Li Yong; Farah R Zahir; Patrice Eydoux; Marco A Marra
Journal:  BMC Genomics       Date:  2009-11-16       Impact factor: 3.969
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