标题
Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome
作者
关键词
-
出版物
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 161, Issue 2, Pages 244-253
出版商
Wiley
发表日期
2013-01-10
DOI
10.1002/ajmg.a.35632
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。- Deletion 2p15-16.1 syndrome: Case report and review
- (2011) Paolo Prontera et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- 2p15–p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders
- (2011) Xudong Liu et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Further characterization of microdeletion syndrome involving 2p15-p16.1
- (2010) Têmis Maria Félix et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Structural Variation in the Human Genome and its Role in Disease
- (2010) Paweł Stankiewicz et al. Annual Review of Medicine
- Delineation of 15q13.3 microdeletions
- (2010) A Masurel-Paulet et al. CLINICAL GENETICS
- A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
- (2010) Santhosh Girirajan et al. NATURE GENETICS
- Keeping it simple: what mouse models of Wolf-Hirschhorn syndrome can tell us about large chromosomal deletions
- (2009) J. M. Abrams et al. Disease Models & Mechanisms
- A novel 1.4 Mb de novo microdeletion of chromosome 1q21.3 in a child with microcephaly, dysmorphic features and mental retardation
- (2009) Sujana Reddy et al. European Journal of Medical Genetics
- The etiology of congenital diaphragmatic hernia: Still largely unknown?
- (2009) M. Klaassens et al. European Journal of Medical Genetics
- A newly recognised microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behaviour, short stature, microcephaly, and dysmorphic features: a new patient with 3.2 Mb deletion
- (2009) J-S Liang et al. JOURNAL OF MEDICAL GENETICS
- Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis
- (2009) L. E. L. M. Vissers et al. JOURNAL OF MEDICAL GENETICS
- Chromosome deletions in 13q33–34: Report of four patients and review of the literature
- (2008) Joanna Walczak-Sztulpa et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Novel microdeletion syndromes detected by chromosome microarrays
- (2008) Anne M. Slavotinek HUMAN GENETICS
- Human Fetal Hemoglobin Expression Is Regulated by the Developmental Stage-Specific RepressorBCL11A
- (2008) Vijay G. Sankaran et al. SCIENCE
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