Literature DB >> 10978370

DiGeorge syndrome with discordant phenotype in monozygotic twins.

G Hillebrand, R Siebert, E Simeoni, R Santer.   

Abstract

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Year:  2000        PMID: 10978370      PMCID: PMC1734679          DOI: 10.1136/jmg.37.9.e23

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


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  6 in total

1.  Genetic factors are major determinants of phenotypic variability in a mouse model of the DiGeorge/del22q11 syndromes.

Authors:  I Taddei; M Morishima; T Huynh; E A Lindsay
Journal:  Proc Natl Acad Sci U S A       Date:  2001-09-18       Impact factor: 11.205

Review 2.  Epigenetics lessons from twins: prospects for autoimmune disease.

Authors:  Esteban Ballestar
Journal:  Clin Rev Allergy Immunol       Date:  2010-08       Impact factor: 8.667

3.  Biallelic expression of Tbx1 protects the embryo from developmental defects caused by increased receptor tyrosine kinase signaling.

Authors:  Subreena Simrick; Dorota Szumska; Jennifer R Gardiner; Kieran Jones; Karun Sagar; Bernice Morrow; Shoumo Bhattacharya; M Albert Basson
Journal:  Dev Dyn       Date:  2012-06-26       Impact factor: 3.780

4.  Prenatal sonographic and cytogenetic/molecular findings of 22q11.2 microdeletion syndrome in 48 confirmed cases in a single tertiary center.

Authors:  Tugba Sarac Sivrikoz; Seher Basaran; Recep Has; Birsen Karaman; Ibrahim Halil Kalelioglu; Melike Kirgiz; Umut Altunoglu; Atil Yuksel
Journal:  Arch Gynecol Obstet       Date:  2021-06-18       Impact factor: 2.344

5.  How might stress contribute to increased risk for schizophrenia in children with chromosome 22q11.2 deletion syndrome?

Authors:  Elliott A Beaton; Tony J Simon
Journal:  J Neurodev Disord       Date:  2010-12-14       Impact factor: 4.025

6.  Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size.

Authors:  Ashutosh Halder; Manish Jain; Isha Chaudhary; Binuja Varma
Journal:  Mol Cytogenet       Date:  2012-03-13       Impact factor: 2.009

  6 in total

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