The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system
出版年份 2013 全文链接
标题
The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system
作者
关键词
-
出版物
GENETICS IN MEDICINE
Volume 16, Issue 1, Pages 92-100
出版商
Springer Nature
发表日期
2013-06-13
DOI
10.1038/gim.2013.79
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。- Congenital Extrarenal Malignant Rhabdoid Tumor in an Infant With Distal 22q11.2 Deletion Syndrome
- (2012) Andrea L. Chakrapani et al. AMERICAN JOURNAL OF DERMATOPATHOLOGY
- Heart defects and other features of the 22q11 distal deletion syndrome
- (2012) Christina R. Fagerberg et al. European Journal of Medical Genetics
- Phenotypic variability of distal 22q11.2 copy number abnormalities
- (2011) Tiong Yang Tan et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Congenital anomalies and rhabdoid tumor associated with 22q11 germline deletion and somatic inactivation of the SMARCB1 tumor suppressor
- (2011) George Toth et al. GENES CHROMOSOMES & CANCER
- A copy number variation morbidity map of developmental delay
- (2011) Gregory M Cooper et al. NATURE GENETICS
- Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes
- (2011) Santhosh Girirajan et al. PLoS Genetics
- Left ventricular non-compaction on MRI in a patient with 22q11.2 distal deletion
- (2010) Shobhit Madan et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- A patient with a de novo distal 22q11.2 microdeletion and anxiety disorder
- (2010) Willem Verhoeven et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Diagnosis of distal 22q11.2 deletion syndrome in a patient with a teratoid/rhabdoid tumour
- (2010) R.A. Beddow et al. European Journal of Medical Genetics
- Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors
- (2010) Katherine W. Eaton et al. PEDIATRIC BLOOD & CANCER
- DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
- (2009) Helen V. Firth et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor
- (2009) Lucie Lafay-Cousin et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients
- (2009) S. Bruce et al. JOURNAL OF MEDICAL GENETICS
- Mechanisms of change in gene copy number
- (2009) P. J. Hastings et al. NATURE REVIEWS GENETICS
- 22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome
- (2008) Shay Ben-Shachar et al. AMERICAN JOURNAL OF HUMAN GENETICS
- 1.4Mb recurrent 22q11.2 distal deletion syndrome, two new cases expand the phenotype
- (2008) Olaug K. Rødningen et al. European Journal of Medical Genetics
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now