Literature DB >> 12414833

Monozygotic twins with chromosome 22q11 deletion and discordant phenotypes: updates with an epigenetic hypothesis.

S M Singh, B Murphy, R O'Reilly.   

Abstract

Mesh：

Year:  2002        PMID： 12414833      PMCID： PMC1735014          DOI： 10.1136/jmg.39.11.e71

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


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  12 in total

1.  Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins.

Authors:  D Johnson; N Morrison; L Grant; T Turner; J Fantes; J M Connor; V Murday
Journal:  J Med Genet       Date:  2005-08-23       Impact factor: 6.318

Review 2.  The neural crest in cardiac congenital anomalies.

Authors:  Anna Keyte; Mary Redmond Hutson
Journal:  Differentiation       Date:  2012-05-15       Impact factor: 3.880

3.  Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndrome.

Authors:  Deborah A Driscoll; Torrey Boland; Beverly S Emanuel; Richard E Kirschner; Don LaRossa; Jeanne Manson; Donna McDonald-McGinn; Peter Randall; Cynthia Solot; Elaine Zackai; Laura E Mitchell
Journal:  Cleft Palate Craniofac J       Date:  2006-07

4.  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 5.  Mitochondria in complex psychiatric disorders: Lessons from mouse models of 22q11.2 deletion syndrome: Hemizygous deletion of several mitochondrial genes in the 22q11.2 genomic region can lead to symptoms associated with neuropsychiatric disease.

Authors:  Prakash Devaraju; Stanislav S Zakharenko
Journal:  Bioessays       Date:  2017-01-03       Impact factor: 4.345

6.  Implications of COMT long-range interactions on the phenotypic variability of 22q11.2 deletion syndrome.

Authors:  Michael J Zeitz; Paula P Lerner; Ferhat Ay; Eric Van Nostrand; Julia D Heidmann; William S Noble; Andrew R Hoffman
Journal:  Nucleus       Date:  2013-12-05       Impact factor: 4.197

Review 7.  Molecular genetics of 22q11.2 deletion syndrome.

Authors:  Bernice E Morrow; Donna M McDonald-McGinn; Beverly S Emanuel; Joris R Vermeesch; Peter J Scambler
Journal:  Am J Med Genet A       Date:  2018-10       Impact factor: 2.802

8.  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

9.  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

10.  MOZ regulates the Tbx1 locus, and Moz mutation partially phenocopies DiGeorge syndrome.

Authors:  Anne K Voss; Hannah K Vanyai; Caitlin Collin; Mathew P Dixon; Tamara J McLennan; Bilal N Sheikh; Peter Scambler; Tim Thomas
Journal:  Dev Cell       Date:  2012-08-23       Impact factor: 12.270
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