Duplication 12p and Pallister-Killian syndrome: A case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region
出版年份 2012 全文链接
标题
Duplication 12p and Pallister-Killian syndrome: A case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region
作者
关键词
-
出版物
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 158A, Issue 12, Pages 3033-3045
出版商
Wiley
发表日期
2012-11-21
DOI
10.1002/ajmg.a.35500
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Pure and complete 12p trisomy due to a maternal centric fission of chromosome 12
- (2011) Zafer Cetin et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Chromosomal copy number alterations are associated with tumor response to chemoradiation in locally advanced rectal cancer
- (2011) Zhenbin Chen et al. GENES CHROMOSOMES & CANCER
- Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes
- (2010) Erin L. Heinzen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A case of de novo trisomy 12p syndrome
- (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
- (2010) P. Peltomäki et al. CLINICAL GENETICS
- 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
- Phenotypic overlapping of trisomy 12p and Pallister–Killian syndrome
- (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
- (2009) C. G. F. de Kovel et al. BRAIN
- 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
- (2009) Tiffany Hung et al. MOLECULAR CELL
- Copy number variations of chromosome 16p13.1 region associated with schizophrenia
- (2009) A Ingason et al. MOLECULAR PSYCHIATRY
- High Resolution Array-Comparative Genomic Hybridization Profiling Reveals Deoxyribonucleic Acid Copy Number Alterations Associated with Medullary Thyroid Carcinoma
- (2008) Lei Ye et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
- (2008) F D Hannes et al. JOURNAL OF MEDICAL GENETICS
- 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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