Literature DB >> 26634267

Phenotypic Variations in the 22q11 Deletion Syndrome - Study in a South Indian Population.

Satish V S S Pilli1, D Anuradha1, N Manoj1, N Nagesh2, Raghavannair Suresh Kumar3,4, Gopala Krishna Aradhyam5.   

Abstract

Mesh：

Year:  2015        PMID： 26634267     DOI： 10.1007/s12098-015-1954-5

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


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  4 in total

1.  Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome.

Authors:  L Fernández; P Lapunzina; D Arjona; I López Pajares; L García-Guereta; D Elorza; M Burgueros; M L De Torres; M A Mori; M Palomares; A García-Alix; A Delicado
Journal:  Clin Genet       Date:  2005-10       Impact factor: 4.438

2.  Prevalence of 22q11.2 microdeletion in 146 patients with cardiac malformation in a referral hospital of North India.

Authors:  Ashutosh Halder; Manish Jain; Isha Chaudhary; Madhulika Kabra
Journal:  BMC Med Genet       Date:  2010-06-23       Impact factor: 2.103

3.  A method for accurate detection of genomic microdeletions using real-time quantitative PCR.

Authors:  Rosanna Weksberg; Simon Hughes; Laura Moldovan; Anne S Bassett; Eva W C Chow; Jeremy A Squire
Journal:  BMC Genomics       Date:  2005-12-13       Impact factor: 3.969

4.  Genotype-phenotype correlation in 22q11.2 deletion syndrome.

Authors:  Elena Michaelovsky; Amos Frisch; Miri Carmel; Miriam Patya; Omer Zarchi; Tamar Green; Lina Basel-Vanagaite; Abraham Weizman; Doron Gothelf
Journal:  BMC Med Genet       Date:  2012-12-17       Impact factor: 2.103
  4 in total

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