Results 201 to 210 of about 265,128 (376)

Genetic abnormalities detected by comparative genomic hybridization in a human endometriosis-derived cell line [PDF]

, 2000
Jean Gogusev, J. Bouquet De Joliniere, Louise Telvi, Mireille Doussau, Stanislas du Manoir, Alexandre Stojkoski, M Levardon   +6 more
openalex   +1 more source

Prenatal diagnosis using combined quantitative fluorescent polymerase chain reaction and array comparative genomic hybridization analysis as a first‐line test: results from over 1000 consecutive cases

Ultrasound in Obstetrics and Gynecology, 2013
Fergus Scott, K. Murphy, L. Carey, W. Greville, Nerida Mansfield, Paulette Barahona, Rob Robertson, Andrew McLennan   +7 more
semanticscholar   +1 more source

Cryptic Splicing of GAP43 mRNA is a Novel Hallmark of TDP‐43‐Associated ALS and AD

Advanced Science, EarlyView.
TDP‐43 dysfunction disrupts RNA processing, inducing cryptic exon 4a1 inclusion in GAP43 and reducing its protein levels. This aberrant splicing impairs axonal regeneration and contributes to neurodegeneration in ALS and AD. RNA‐seq of patient brains reveals GAP43 downregulation and 4a1 upregulation, identifying cryptic exon 4a1 as a potential ...
Mingming Yang, Qi Wang, Dongkun Kang, Shijia Wang, Yanli Jiang, Jian‐Zhi Wang, Chen Ming, Rong Liu, Jianlan Gu, Xiaochuan Wang   +9 more
wiley   +1 more source

Evaluation of the Reliability of Chromosomal Imbalances Detected by Combined Use of Universal DNA Amplification and Comparative Genomic Hybridization [PDF]

, 2000
Tomohiko Harada, Kei Shiraishi, Noriyoshi Kusano, Kenji Umayahara, Satoshi Kondoh, Kiwamu Okita, Kohsuke Sasaki   +6 more
openalex   +1 more source

Exome Sequencing Reveals the Genetic Architecture of Non‐syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene

Advanced Science, EarlyView.
Nonsyndromic orofacial clefts (NSOFCs) are the most common craniofacial defects. Exome sequencing of 214 sporadic cases sheds new light on its genetic architecture and identifies many candidate pathogenic variants. Furthermore, functional studies establish BOC as a novel causal gene and reveal an unusual two‐locus model of inheritance via the epistatic
Qing He, Min Yu, Yuhua Jiao, Yizhu Xu, Xuqin Liang, Wenbin Huang, Linping Xu, Yuxia Hou, Zhanping Ren, Beile Lyu, Zhenwei Qian, Pengpeng Liu, Jing Zhou, Huimei Huang, Chunyan Yin, Huaxiang Zhao, Yi Ding   +16 more
wiley   +1 more source

Comparative genomic hybridization analysis of fetal samples arising from recurrent spontaneous abortion

Journal of Family and Reproductive Health, 2007
Objective: This study determined the chromosomal constitution of recurrent spontaneous abortions by Comparative genomic hybridization (CGH) analysis of fetal samples. Material and methods:   Forty pregnant women with early recurrent pregnancy losses aged
Jila Dastan, Saeed Reza Ghaffari, Tayebeh Sabokbar, Fatemeh Ramezanzadeh   +3 more
doaj  

Fuzzy methods for the detection of copy number variations in comparative genomic hybridization arrays. [PDF]

Saudi J Biol Sci, 2020
AlShibli A, Mathkour H.
europepmc   +1 more source

Effect of Bone Decalcification Procedures on DNA In Situ Hybridization and Comparative Genomic Hybridization: EDTA Is Highly Preferable to a Routinely Used Acid Decalcifier

, 1999
Janneke C. Alers, Pieter-Jaap Krijtenburg, Kees J. Vissers, Herman van Dekken   +3 more
openalex   +1 more source

A strategy combining flow sorting and comparative genomic hybridization for studying genetic aberrations at different stages of colorectal tumorigenesis in ulcerative colitis [PDF]

, 2000
O. P. F. Clausen, Solveig Norheim Andersen, H. Str�mkj�r, Vivi Hunnicke Nielsen, TO Rognum, Lars Bolund, Steen K�lvraa   +6 more
openalex   +1 more source

Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders

Genetics in Medicine, 2013
Gary A. Stobbe, Yajuan Liu, Rebecca Wu, L. Hudgings, Owen Thompson, F. Hisama   +5 more
semanticscholar   +1 more source