标题
The phenotype of recurrent 10q22q23 deletions and duplications
作者
关键词
-
出版物
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 19, Issue 4, Pages 400-408
出版商
Springer Nature America, Inc
发表日期
2011-01-20
DOI
10.1038/ejhg.2010.211
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。- Clinical and molecular characterization of individuals with recurrent genomic disorder at 10q22.3q23.2
- (2010) S Alliman et al. CLINICAL GENETICS
- Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review*
- (2010) VICTORIA LEGGETT et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- A new highly penetrant form of obesity due to deletions on chromosome 16p11.2
- (2010) R. G. Walters et al. NATURE
- Fine Mapping on Chromosome 10q22-q23 Implicates Neuregulin 3 in Schizophrenia
- (2009) Pei-Lung Chen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes
- (2009) FH Menko et al. CLINICAL GENETICS
- Duplication hotspots, rare genomic disorders, and common disease
- (2009) Heather C Mefford et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications
- (2009) T. H. Shaikh et al. GENOME RESEARCH
- Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance
- (2009) L. M. Dibbens et al. HUMAN MOLECULAR GENETICS
- Genetic Variants Associated With Cardiac Structure and Function
- (2009) Ramachandran S. Vasan et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders
- (2009) S Ben-Shachar et al. JOURNAL OF MEDICAL GENETICS
- Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
- (2009) M. Shinawi et al. JOURNAL OF MEDICAL GENETICS
- Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
- (2009) B W M van Bon et al. JOURNAL OF MEDICAL GENETICS
- 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
- (2009) Ingo Helbig et al. NATURE GENETICS
- A MicroRNA gene is hosted in an intron of a schizophrenia-susceptibility gene
- (2009) Yanglong Zhu et al. SCHIZOPHRENIA RESEARCH
- Dissection of phenotype reveals possible association between schizophrenia and Glutamate Receptor Delta 1 (GRID1) gene promoter
- (2009) Jens Treutlein et al. SCHIZOPHRENIA RESEARCH
- Genomic disorders ten years on
- (2009) James R Lupski Genome Medicine
- 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
- A 15q13.3 microdeletion segregating with autism
- (2008) Alistair T Pagnamenta et al. EUROPEAN 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
- Novel microdeletion syndromes detected by chromosome microarrays
- (2008) Anne M. Slavotinek HUMAN GENETICS
- The Role of NRG3 in Mammary Development
- (2008) Beatrice A. Howard JOURNAL OF MAMMARY GLAND BIOLOGY AND NEOPLASIA
- 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
- Rare chromosomal deletions and duplications increase risk of schizophrenia
- (2008) Jennifer L. Stone et al. NATURE
- Large recurrent microdeletions associated with schizophrenia
- (2008) Hreinn Stefansson et al. NATURE
- A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
- (2008) Andrew J Sharp et al. NATURE GENETICS
- Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
- (2008) Nicola Brunetti-Pierri et al. NATURE GENETICS
- Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
- (2008) Heather C. Mefford et al. NEW ENGLAND JOURNAL OF MEDICINE
- Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases
- (2008) Ignatia B. Van den Veyver et al. PRENATAL DIAGNOSIS
- Fine mapping of a de novo interstitial 10q22–q23 duplication in a patient with congenital heart disease and microcephaly
- (2007) F. Erdogan et al. European Journal of Medical Genetics
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationFind the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
Search