Literature DB >> 10507735

Microdeletion 22q11.2: clinical data and deletion size.

W S Kerstjens-Frederikse, H Kurahashi, D A Driscoll, M L Budarf, B S Emanuel, B Beatty, T Scheidl, J Siegel-Bartelt, K Henderson, C Cytrynbaum, G Nie, I Teshima.   

Abstract

Mesh：

Year:  1999        PMID： 10507735      PMCID： PMC1734429     

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


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  8 in total

Review 1.  Schizophrenia and genetics: new insights.

Authors:  Anne S Bassett; Eva W Chow; Rosanna Weksberg; Linda Brzustowicz
Journal:  Curr Psychiatry Rep       Date:  2002-08       Impact factor: 5.285

2.  Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum.

Authors:  Sintia Iole Nogueira; April M Hacker; Fernanda T S Bellucco; Denise M Christofolini; Leslie Domenici Kulikowski; Mirlene C S P Cernach; Beverly S Emanuel; Maria Isabel Melaragno
Journal:  Eur J Med Genet       Date:  2008-02-08       Impact factor: 2.708

3.  22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.

Authors:  Shay Ben-Shachar; Zhishuo Ou; Chad A Shaw; John W Belmont; Millan S Patel; Marybeth Hummel; Stephen Amato; Nicole Tartaglia; Jonathan Berg; V Reid Sutton; Seema R Lalani; A Craig Chinault; Sau W Cheung; James R Lupski; Ankita Patel
Journal:  Am J Hum Genet       Date:  2008-01       Impact factor: 11.025

Review 4.  Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements.

Authors:  Beverly S Emanuel
Journal:  Dev Disabil Res Rev       Date:  2008

Review 5.  The 22q11.2 Microdeletion in Pediatric Patients with Cleft Lip, Palate, or Both and Congenital Heart Disease: A Systematic Review.

Authors:  Diana Cárdenas-Nieto; Maribel Forero-Castro; Clara Esteban-Pérez; Julio Martínez-Lozano; Ignacio Briceño-Balcázar
Journal:  J Pediatr Genet       Date:  2019-10-23

6.  Parental imbalances involving chromosomes 15q and 22q may predispose to the formation of de novo pathogenic microdeletions and microduplications in the offspring.

Authors:  Valeria Capra; Samantha Mascelli; Maria Luisa Garrè; Paolo Nozza; Carlotta Vaccari; Lara Bricco; Frédérique Sloan-Béna; Stefania Gimelli; Cristina Cuoco; Giorgio Gimelli; Elisa Tassano
Journal:  PLoS One       Date:  2013-03-06       Impact factor: 3.240

7.  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

8.  Candidate modifier genes for immune function in 22q11.2 deletion syndrome.

Authors:  Catherina T Pinnaro; Travis Henry; Heather J Major; Mrutyunjaya Parida; Lucy E DesJardin; John R Manak; Benjamin W Darbro
Journal:  Mol Genet Genomic Med       Date:  2019-12-12       Impact factor: 2.183
  8 in total

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