标题
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1
作者
关键词
-
出版物
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 23, Issue 8, Pages 1010-1018
出版商
Springer Nature America, Inc
发表日期
2014-10-29
DOI
10.1038/ejhg.2014.230
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。- Associations between oxytocin-related genes and autistic-like traits
- (2014) Daniel Hovey et al. Social Neuroscience
- Endocrine phenotype of 6q16.1-q21 deletion involvingSIM1and Prader-Willi syndrome-like features
- (2013) Kosuke Izumi et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants
- (2013) Carla Sustek D'Angelo et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes
- (2013) Martine Doco-Fenzy et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Functional characterization of SIM1-associated enhancers
- (2013) Mee J. Kim et al. HUMAN MOLECULAR GENETICS
- Mutation screen of the SIM1 gene in pediatric patients with early-onset obesity
- (2013) D Zegers et al. INTERNATIONAL JOURNAL OF OBESITY
- Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi–like features
- (2013) Amélie Bonnefond et al. JOURNAL OF CLINICAL INVESTIGATION
- Rare variants in single-minded 1 (SIM1) are associated with severe obesity
- (2013) Shwetha Ramachandrappa et al. JOURNAL OF CLINICAL INVESTIGATION
- Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases
- (2012) Jill A. Rosenfeld et al. NEUROGENETICS
- Ablation of Sim1 Neurons Causes Obesity through Hyperphagia and Reduced Energy Expenditure
- (2012) Dong Xi et al. PLoS One
- De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalance
- (2011) Charlene Sibbons et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
- (2011) Sébastien Jacquemont et al. NATURE
- Phenotypic variability of a deletion and duplication 6q16.1 → q21 due to a paternal balanced ins(7;6)(p15;q16.1q21)
- (2010) Ana Spreiz et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Deletion of the long arm of chromosome 6: two new patients and literature review
- (2010) L. J. M. Evers et al. CLINICAL GENETICS
- Prader-Willi-like phenotype in fragile X syndrome
- (2010) Constance Schrander-Stumpel et al. CLINICAL GENETICS
- Partial monosomy 6q(q15q21) by de novo interstitial deletion
- (2010) G. Glover et al. CLINICAL GENETICS
- Interstitial deletion of the long arm of chromosome 6 [del(6)(q16q22)]: case report and review of the literature
- (2010) M. F. Schwartz et al. CLINICAL GENETICS
- Postnatal Sim1 Deficiency Causes Hyperphagic Obesity and Reduced Mc4r and Oxytocin Expression
- (2010) K. P. Tolson et al. JOURNAL OF NEUROSCIENCE
- A de novo Proximal 6q Deletion Confirmed by Array Comparative Genomic Hybridization
- (2010) Kwang-Sook Woo et al. Korean Journal of Laboratory Medicine
- 1p36 deletion syndrome associated with Prader-Willi-like phenotype
- (2010) Yu Tsuyusaki et al. PEDIATRICS INTERNATIONAL
- Prader-Willi syndrome phenocopy due to duplication of Xq21.1-q21.31, with array CGH of the critical region
- (2009) MT Gabbett et al. CLINICAL GENETICS
- Maternal Uniparental Disomy 14 Syndrome Demonstrates Prader-Willi Syndrome-Like Phenotype
- (2009) Kana Hosoki et al. JOURNAL OF PEDIATRICS
- Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report
- (2009) Ryan N Traylor et al. Molecular Cytogenetics
- A 5-Mb microdeletion at 6q16.1-q16.3 withSIMgene deletion and obesity
- (2008) Jia-Chi Wang et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype
- (2008) Maria Clara Bonaglia et al. EUROPEAN JOURNAL OF HUMAN GENETICS
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