Literature DB >> 9733044

Frequency of inherited deletions of 22q11.

P W Thompson, S J Davies.   

Abstract

Mesh：

Year:  1998        PMID： 9733044      PMCID： PMC1051441          DOI： 10.1136/jmg.35.9.789

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


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  1 in total

1.  Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.

Authors:  D A Driscoll; J Salvin; B Sellinger; M L Budarf; D M McDonald-McGinn; E H Zackai; B S Emanuel
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318
  1 in total
  7 in total

1.  A rare association of interrupted aortic arch type C and microdeletion 22q11.2.

Authors:  Goran Cuturilo; Danijela Drakulic; Milena Stevanovic; Ida Jovanovic; Milan Djukic; Slobodanka Miletic-Grkovic; Marina Atanaskovic-Markovic
Journal:  Eur J Pediatr       Date:  2007-11-27       Impact factor: 3.183

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

Review 3.  The DiGeorge anomaly.

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

4.  Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome).

Authors:  Mc Digilio; B Marino; R Capolino; B Dallapiccola
Journal:  Images Paediatr Cardiol       Date:  2005-04

5.  Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects.

Authors:  Emilia Cirillo; Giuliana Giardino; Vera Gallo; Pamela Puliafito; Chiara Azzari; Rosa Bacchetta; Fabio Cardinale; Maria Pia Cicalese; Rita Consolini; Silvana Martino; Baldassarre Martire; Cristina Molinatto; Alessandro Plebani; Gioacchino Scarano; Annarosa Soresina; Caterina Cancrini; Paolo Rossi; Maria Cristina Digilio; Claudio Pignata
Journal:  BMC Med Genet       Date:  2014-01-02       Impact factor: 2.103

6.  Clinical outcome of subchromosomal events detected by whole-genome noninvasive prenatal testing.

Authors:  J Helgeson; J Wardrop; T Boomer; E Almasri; W B Paxton; J S Saldivar; N Dharajiya; T J Monroe; D H Farkas; D S Grosu; R M McCullough
Journal:  Prenat Diagn       Date:  2015-07-27       Impact factor: 3.050

7.  Prevalence of selected genomic deletions and duplications in a French-Canadian population-based sample of newborns.

Authors:  Tracy Tucker; Sylvie Giroux; Valérie Clément; Sylvie Langlois; Jan M Friedman; François Rousseau
Journal:  Mol Genet Genomic Med       Date:  2013-05-21       Impact factor: 2.183
  7 in total

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