Literature DB >> 23207424

2p16.3 microdeletion with partial deletion of the neurexin-1 gene in a female with developmental delays, short stature, and a congenital diaphragmatic hernia.

Karla Bermudez-Wagner1, Linda J B Jeng, Anne M Slavotinek, Erica F Sanford.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2013        PMID： 23207424     DOI： 10.1097/MCD.0b013e32835b8df2

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


× No keyword cloud information.
  4 in total

1.  CASK stabilizes neurexin and links it to liprin-α in a neuronal activity-dependent manner.

Authors:  Leslie E W LaConte; Vrushali Chavan; Chen Liang; Jeffery Willis; Eva-Maria Schönhense; Susanne Schoch; Konark Mukherjee
Journal:  Cell Mol Life Sci       Date:  2016-03-25       Impact factor: 9.261

2.  Whole-genome analyses identify loci and selective signals associated with body size in cattle.

Authors:  Qiuming Chen; Bizhi Huang; Jingxi Zhan; Junjie Wang; Kaixing Qu; Fengwei Zhang; Jiafei Shen; Peng Jia; Qingqing Ning; Jicai Zhang; Ningbo Chen; Hong Chen; Chuzhao Lei
Journal:  J Anim Sci       Date:  2020-03-01       Impact factor: 3.159

3.  NRXN1 Deletion in Two Twins' Genotype and Phenotype: A Clinical Case and Literature Review.

Authors:  Monica Sciacca; Lidia Marino; Giovanna Vitaliti; Raffaele Falsaperla; Silvia Marino
Journal:  Children (Basel)       Date:  2022-05-10

Review 4.  The Role of De Novo Variants in Patients with Congenital Diaphragmatic Hernia.

Authors:  Charlotte Bendixen; Heiko Reutter
Journal:  Genes (Basel)       Date:  2021-09-11       Impact factor: 4.096
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.