Literature DB >> 3770751

DiGeorge syndrome and 22q11 rearrangements.

S Augusseau, S Jouk, P Jalbert, M Prieur.   

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Year:  1986        PMID： 3770751     DOI： 10.1007/bf00282098

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


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  3 in total

1.  A deletion in chromosome 22 can cause DiGeorge syndrome.

Authors:  A de la Chapelle; R Herva; M Koivisto; P Aula
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

2.  Familial DiGeorge syndrome and associated partial monosomy of chromosome 22.

Authors:  F Greenberg; W E Crowder; V Paschall; J Colon-Linares; B Lubianski; D H Ledbetter
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

3.  The association of the DiGeorge anomalad with partial monosomy of chromosome 22.

Authors:  R I Kelley; E H Zackai; B S Emanuel; M Kistenmacher; F Greenberg; H H Punnett
Journal:  J Pediatr       Date:  1982-08       Impact factor: 4.406
  3 in total
  30 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.  A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

Authors:  D A Driscoll; M L Budarf; B S Emanuel
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

3.  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

4.  Two sibs with Wolf-Hirschhorn and DiGeorge deletions resulting from an unbalanced chromosome rearrangement, 45,XX/XY, der(4)t(4;22) (p16.3;q11.2) mat,-22.

Authors:  K S Reddy; V Sulcova; B Siassi
Journal:  J Med Genet       Date:  1996-10       Impact factor: 6.318

5.  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

6.  Isolation of novel cDNA encompassing the ADU balanced translocation break point in the DiGeorge critical region.

Authors:  M H Kim; H Hur; J Park; Y J Kim
Journal:  Mol Biotechnol       Date:  2001-03       Impact factor: 2.695

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

Authors:  H Kurahashi; T Nakayama; Y Osugi; E Tsuda; M Masuno; K Imaizumi; T Kamiya; T Sano; S Okada; I Nishisho
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

8.  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

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

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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