Reply to Pubpeer anonymous contributors: incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
作者信息
El Khattabi Laila, Guimiot Fabien, Delahaye-Duriez Andrée
机构信息
Department of Cytogenetics, AP-HP, Hôpital Cochin, Paris, France.
Fetal pathology Unit, AP-HP, Hôpital Robert Debré, Paris, France.
出版信息
Eur J Hum Genet. 2022 Sep;30(9):998-999. doi: 10.1038/s41431-022-01110-0. Epub 2022 May 24.
Abstract
摘要
相似文献
1
Reply to Pubpeer anonymous contributors: incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
Eur J Hum Genet. 2022 Sep;30(9):998-999. doi: 10.1038/s41431-022-01110-0. Epub 2022 May 24.
2
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
Eur J Hum Genet. 2015 Aug;23(8):1010-8. doi: 10.1038/ejhg.2014.230. Epub 2014 Nov 5.
3
Copy number variation (CNV) analysis and mutation analysis of the 6q14.1-6q16.3 genes SIM1 and MRAP2 in Prader Willi like patients.
Mol Genet Metab. 2016 Mar;117(3):383-8. doi: 10.1016/j.ymgme.2016.01.003. Epub 2016 Jan 9.
4
Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features.
Am J Med Genet A. 2013 Dec;161A(12):3137-43. doi: 10.1002/ajmg.a.36149. Epub 2013 Aug 16.
5
Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features.
J Clin Invest. 2013 Jul;123(7):3037-41. doi: 10.1172/JCI68035. Epub 2013 Jun 17.
6
A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity.
Eur J Med Genet. 2006 Jul-Aug;49(4):298-305. doi: 10.1016/j.ejmg.2005.12.002. Epub 2006 Jan 4.
7
Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype.
J Med Genet. 2002 Aug;39(8):594-6. doi: 10.1136/jmg.39.8.594.
8
Functional Analysis of the SIM1 Variant p.G715V in 2 Patients With Obesity.
J Clin Endocrinol Metab. 2020 Jan 1;105(1). doi: 10.1210/clinem/dgz192.
9
A 5-Mb microdeletion at 6q16.1-q16.3 with SIM gene deletion and obesity.
Am J Med Genet A. 2008 Nov 15;146A(22):2975-8. doi: 10.1002/ajmg.a.32555.
10
DNA sequencing and copy number variation analysis of MCHR2 in a cohort of Prader Willi like (PWL) patients.
Obes Res Clin Pract. 2018 Mar-Apr;12(2):158-166. doi: 10.1016/j.orcp.2017.10.001. Epub 2017 Oct 20.
本文引用的文献
1
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder.
Clin Genet. 2021 Oct;100(4):396-404. doi: 10.1111/cge.14017. Epub 2021 Jul 1.
2
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
Eur J Hum Genet. 2015 Aug;23(8):1010-8. doi: 10.1038/ejhg.2014.230. Epub 2014 Nov 5.
Zotero 插件