Literature DB >> 10528864

Frequency and predictive value of 22q11 deletion.

J Liling, I Cross, J Burn, C P Daniel, E J Tawn, L Parker.   

Abstract

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Year:  1999        PMID： 10528864      PMCID： PMC1734235          DOI： 10.1136/jmg.36.10.794

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  4 in total

1.  Premature death in adults with 22q11.2 deletion syndrome.

Authors:  A S Bassett; E W C Chow; J Husted; K A Hodgkinson; E Oechslin; L Harris; C Silversides
Journal:  J Med Genet       Date:  2009-02-25       Impact factor: 6.318

2.  Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.

Authors:  B W M van Bon; H C Mefford; B Menten; D A Koolen; A J Sharp; W M Nillesen; J W Innis; T J L de Ravel; C L Mercer; M Fichera; H Stewart; L E Connell; K Ounap; K Lachlan; B Castle; N Van der Aa; C van Ravenswaaij; M A Nobrega; C Serra-Juhé; I Simonic; N de Leeuw; R Pfundt; E M Bongers; C Baker; P Finnemore; S Huang; V K Maloney; J A Crolla; M van Kalmthout; M Elia; G Vandeweyer; J P Fryns; S Janssens; N Foulds; S Reitano; K Smith; S Parkel; B Loeys; C G Woods; A Oostra; F Speleman; A C Pereira; A Kurg; L Willatt; S J L Knight; J R Vermeesch; C Romano; J C Barber; G Mortier; L A Pérez-Jurado; F Kooy; H G Brunner; E E Eichler; T Kleefstra; B B A de Vries
Journal:  J Med Genet       Date:  2009-04-15       Impact factor: 6.318

3.  Clinical features of 78 adults with 22q11 Deletion Syndrome.

Authors:  Anne S Bassett; Eva W C Chow; Janice Husted; Rosanna Weksberg; Oana Caluseriu; Gary D Webb; Michael A Gatzoulis
Journal:  Am J Med Genet A       Date:  2005-11-01       Impact factor: 2.802

4.  Unambiguous molecular detections with multiple genetic approach for the complicated chromosome 22q11 deletion syndrome.

Authors:  Chen Yang; Cheng-Hung Huang; Mei-Leng Cheong; Kun-Long Hung; Lung-Huang Lin; Yeong-Seng Yu; Chih-Cheng Chien; Huei-Chen Huang; Chan-Wei Chen; Chi-Jung Huang
Journal:  BMC Med Genet       Date:  2009-02-25       Impact factor: 2.103
  4 in total

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