A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome-Reference-Cited by-同舟云学术

A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome

Published:2007-01 Issue:1 Volume:50 Page:79-84
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Addis Maria,Meloni Cristiana,Congiu Rita,Santaniello Simona,Emma Francesco,Zuffardi Orsetta,Ciccone Roberto,Cao Antonio,Melis Maria Antonietta,Cau Milena

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference19 articles.

1. OCRL1 mutation analysis in Italian patients with Lowe syndrome;Addis;Hum. Mutat.,2004

2. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation;Allen;Am. J. Hum. Genet.,1992

3. The Lowe oculocerebrorenal syndrome gene encodes a novel protein highly homologous to inositol polyphosphate-5-phosphatase;Attree;Nature,1992

4. Lowe's syndrome;Cyvin;Acta Pediatr. Scand.,1973

5. Ocrl1, a PtdIns(4, 5)P(2) 5-phosphatase is localized to the trans-Golgi network of fibroblasts and epithelial cells;Dressman;J. Histochem. Cytochem.,2000

Cited by 11 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Whole‐genome sequencing revealed an interstitial deletion encompassing OCRL and SMARCA1 gene in a patient with Lowe syndrome;Molecular Genetics & Genomic Medicine;2019-08-03

2. Modeling the neuropsychiatric manifestations of Lowe syndrome using induced pluripotent stem cells: defective F-actin polymerization and WAVE-1 expression in neuronal cells;Molecular Autism;2018-08-15

3. Exome-first approach identified a novel gloss deletion associated with Lowe syndrome;Human Genome Variation;2016-11-10

4. VATER/VACTERL Association and Caudal Regression with Xq25-q27.3 Microdeletion: A Case Report;Fetal and Pediatric Pathology;2016-02-16

5. Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome;Pediatric Nephrology;2014-12-06