Duplication 12p and Pallister-Killian syndrome: A case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region
Published 2012 View Full Article
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Title
Duplication 12p and Pallister-Killian syndrome: A case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region
Authors
Keywords
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Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 158A, Issue 12, Pages 3033-3045
Publisher
Wiley
Online
2012-11-21
DOI
10.1002/ajmg.a.35500
References
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Note: Only part of the references are listed.- Pure and complete 12p trisomy due to a maternal centric fission of chromosome 12
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- (2010) Shawky Tayel et al. CLINICAL GENETICS
- De novo duplication of 12pter → p12.1: clinical and cytogenetic diagnosis confirmed by chromosome painting
- (2010) E. Back et al. CLINICAL GENETICS
- Centric fission, centromere-telomere fusion and isochromosome formation: a possible origin of a de novo 12p trisomy
- (2010) H. Rivera et al. CLINICAL GENETICS
- Patient with de novo 12p+ syndrome identified as dir dup (12) (p13) using subchromosomal painting libraries from somatic cell hybrids
- (2010) L. Zelante et al. CLINICAL GENETICS
- Pallister-Killian syndrome: cytogenetic and molecular studies
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- Trisomy 12p syndrome Evaluation of a family with a t(12;21)(p12.1;p11) translocation with unbalanced offspring
- (2010) I. L. Hansteen et al. CLINICAL GENETICS
- Regulation of DNA-damage responses and cell-cycle progression by the chromatin remodelling factor CHD4
- (2010) Sophie E Polo et al. EMBO JOURNAL
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- (2010) Eisuke Inage et al. European Journal of Medical Genetics
- The chromatin-remodeling factor CHD4 coordinates signaling and repair after DNA damage
- (2010) Dorthe Helena Larsen et al. JOURNAL OF CELL BIOLOGY
- Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
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- Prognostic Significance of Copy-Number Alterations in Multiple Myeloma
- (2009) Hervé Avet-Loiseau et al. JOURNAL OF CLINICAL ONCOLOGY
- ING4 Mediates Crosstalk between Histone H3 K4 Trimethylation and H3 Acetylation to Attenuate Cellular Transformation
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- (2009) A Ingason et al. MOLECULAR PSYCHIATRY
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- The ING4 Tumor Suppressor Attenuates NF- B Activity at the Promoters of Target Genes
- (2008) S. Nozell et al. MOLECULAR AND CELLULAR BIOLOGY
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