Methods : This cross-sectional, multicenter study included 16 patients with a homozygous deletion of the NPHP1 gene. Subjects underwent ophthalmic examination including best-corrected visual acuity (BCVA) testing and retinal imaging. Results : Median age at examination was 17 years (range, 6-53 ...
To further confirm the full gene deletion, realtime PCR was performed to detect the copy number of this region, normalized by that of albumin (ALB) gene in human genome. As shown in Fig.2, only one copy of NPHP1 gene was detected in the samples of their parents (Supplementary material)...
Hoefele J, Nayir A, Chaki M, Imm A, Allen SJ, Otto EA, et al. Pseudodominant inheritance of nephro- nophthisis caused by a homozygous NPHP1 deletion. Pediatr Nephrol. 2011; 26: 967-971. doi: 10. 1007/s00467-011-1761-9 PMID: 21258817...
The patients' deletion breakpoints appear to be located within the 45-kb repeat, suggesting an unequal recombination between the two homologous copies of this smaller repeat. Moreover, we demonstrated a nonpathologic rearrangement involving the two 330-kb inverted repeats found in 11 patients and, ...
Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion. Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion. Pediatr Nephrol 2011; 26: 967-971.Hoefele J, Nayir A, Chaki M, ... J Hoefele,A Nayir,M Chaki,... - 《Pediatric ...
The deletion occurred on both chromosomes 2q13 in one patient and heterozygously in combination with a point mutation of the NPHP1 gene in the other. The findings will help to elucidate the pathogenetic processes involved.Access through your organization Check access to the full text by signing ...
A patient with Joubert syndrome caused by homozygous deletion of NPHP1 在线阅读 免费下载 引用 收藏 分享 摘要 患儿,男,因“6月龄竖头欠稳”于浙江大学医学院附属儿童医院康复科就诊。查体发现双眼追视欠灵活,竖头欠稳,不会翻身,双手握拳,双下肢负重差,四肢肌张力低。磁共振结果显示小脑蚓部小,中脑呈“...
A patient with Joubert syndrome caused by homozygous deletion of NPHP1 MA Si-yu RUAN Wen-cong CAO Zong-fu LI Hai-feng SHEN Yue CAI Rui-kun LU Chao LUO Min-na MA Xu GAO Hua-fang ZOU Yan Authors Info & Affiliations Published: 2019 -07 -31 · DOI: 10.3969/j.issn....
在“剂量”上看受检者基因组有没有多（Duplication，重复）或者少（缺失，Deletion），因为基因组多了...
在“剂量”上看受检者基因组有没有多（Duplication，重复）或者少（缺失，Deletion），因为基因组多了...