Literature DB >> 8659546

How many breaks do we need to CATCH on 22q11?

B Dallapiccola, A Pizzuti, G Novelli.   

Abstract

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Year:  1996        PMID: 8659546      PMCID: PMC1915098     

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


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  51 in total

1.  The product of the H19 gene may function as an RNA.

Authors:  C I Brannan; E C Dees; R S Ingram; S M Tilghman
Journal:  Mol Cell Biol       Date:  1990-01       Impact factor: 4.272

2.  DiGeorge syndrome and 22q11 rearrangements.

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

Review 3.  The DiGeorge anomaly as a developmental field defect.

Authors:  E J Lammer; J M Opitz
Journal:  Am J Med Genet Suppl       Date:  1986

4.  Cayler cardiofacial syndrome and del 22q11: part of the CATCH22 phenotype.

Authors:  A Giannotti; M C Digilio; B Marino; R Mingarelli; B Dallapiccola
Journal:  Am J Med Genet       Date:  1994-11-15

5.  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

6.  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

7.  Cytogenetic findings in a prospective series of patients with DiGeorge anomaly.

Authors:  F Greenberg; F F Elder; P Haffner; H Northrup; D H Ledbetter
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

8.  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

9.  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

10.  A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome.

Authors:  R J Shprintzen; R B Goldberg; M L Lewin; E J Sidoti; M D Berkman; R V Argamaso; D Young
Journal:  Cleft Palate J       Date:  1978-01
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  10 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

Review 2.  Velocardiofacial syndrome.

Authors:  A C Pike; M Super
Journal:  Postgrad Med J       Date:  1997-12       Impact factor: 2.401

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.  HIRA, the human homologue of yeast Hir1p and Hir2p, is a novel cyclin-cdk2 substrate whose expression blocks S-phase progression.

Authors:  C Hall; D M Nelson; X Ye; K Baker; J A DeCaprio; S Seeholzer; M Lipinski; P D Adams
Journal:  Mol Cell Biol       Date:  2001-03       Impact factor: 4.272

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.  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

7.  22q11 deletion syndrome in adults with schizophrenia.

Authors:  A S Bassett; K Hodgkinson; E W Chow; S Correia; L E Scutt; R Weksberg
Journal:  Am J Med Genet       Date:  1998-07-10

Review 8.  The DiGeorge anomaly.

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

9.  Clinical Features of Aberrations Chromosome 22q: A Pilot Study.

Authors:  Emine Ikbal Atli; Engin Atli; Sinem Yalcintepe; Selma Demir; Cisem Mail; Damla Eker; Yasemin Ozen; Hakan Gurkan
Journal:  Glob Med Genet       Date:  2021-11-09

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

  10 in total

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