[HTML][HTML] Recurrent 8q13. 2-13.3 microdeletions associated with branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks
X Chen, J Wang, E Mitchell, J Guo, L Wang… - BMC medical …, 2014 - Springer
Background Human endogenous retroviral (HERV) sequences are the remnants of ancient
retroviral infection and comprise approximately 8% of the human genome. The high …
retroviral infection and comprise approximately 8% of the human genome. The high …
Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes
Abstract Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder
characterized by branchial arch anomalies, hearing loss and renal dysmorphology …
characterized by branchial arch anomalies, hearing loss and renal dysmorphology …
HERV‐mediated genomic rearrangement of EYA1 in an individual with branchio‐oto‐renal syndrome
A Sanchez‐Valle, X Wang, L Potocki… - American Journal of …, 2010 - Wiley Online Library
Branchio‐oto‐renal syndrome is characterized by branchial defects, hearing loss,
preauricular pits, and renal anomalies. Mutations in EYA1 are the most common cause of …
preauricular pits, and renal anomalies. Mutations in EYA1 are the most common cause of …
Review of the recurrent 8q13. 2q13. 3 branchio‐oto‐renal related microdeletion, and report of an additional case with associated distal arthrogryposis
PYB Au, JE Chernos… - American Journal of …, 2016 - Wiley Online Library
Recurrent 2.65 Mb deletions of 8q13. 2q13. 3 encompassing EYA1 have been recently
described in the literature as a cause of branchio‐oto‐renal syndrome (BOR). Other clinical …
described in the literature as a cause of branchio‐oto‐renal syndrome (BOR). Other clinical …
[HTML][HTML] From clinical to molecular diagnosis: relevance of diagnostic strategy in two cases of branchio-oto-renal syndrome–case report
E Cacciatori, S Aleo, G Scuvera, C Rigon… - Italian Journal of …, 2022 - Springer
Background Branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder
characterized by deafness, branchiogenic malformations and renal abnormalities …
characterized by deafness, branchiogenic malformations and renal abnormalities …
Identification of a novel CNV at 8q13 in a family with branchio‐oto‐renal syndrome and epilepsy
M Men, WU Li, H Chen, J Wu, Y Feng… - The …, 2020 - Wiley Online Library
Objectives Branchio‐oto‐renal (BOR) syndrome is characterized by branchial defects,
hearing loss, preauricular pits, and renal anomalies, whereas patients with all symptoms …
hearing loss, preauricular pits, and renal anomalies, whereas patients with all symptoms …
Characterization of a translocation-associated deletion defines the candidate region for the gene responsible for branchio-oto-renal syndrome
V Kalatzis, S Abdelhak, S Compain, C Vincent, C Petit - Genomics, 1996 - Elsevier
Fluorescencein situhybridization analysis of an 8q translocation breakpoint, dir ins (8)(q24.
11; q13. 3; q21. 13), carried by an individual presenting with Branchio-Oto-Renal (BOR) …
11; q13. 3; q21. 13), carried by an individual presenting with Branchio-Oto-Renal (BOR) …
Identification and Characterization of a Cryptic Genomic Deletion‐Insertion in EYA1 Associated with Branchio‐Otic Syndrome
H Zheng, J Xu, Y Wang, Y Lin, Q Hu, X Li… - Neural …, 2021 - Wiley Online Library
Branchio‐oto‐renal spectrum disorder (BORSD) is characterized by hearing loss
accompanied by ear malformations, branchial cysts, and fistulae, with (branchio‐oto‐renal …
accompanied by ear malformations, branchial cysts, and fistulae, with (branchio‐oto‐renal …
Narrowing the Genetic Interval and Yeast Artificial Chromosome Map in the Branchio–Oto–Renal Region on Chromosome 8q
S Kumar, WJ Kimberling, A Lanyi, J Sumegi, J Pinnt… - Genomics, 1996 - Elsevier
Branchio–oto–renal (BOR) syndrome is an autosomal dominant disorder characterized by
branchial abnormality, hearing loss, and renal anomalies. Recently, the disease gene has …
branchial abnormality, hearing loss, and renal anomalies. Recently, the disease gene has …
Branchio-otic syndrome caused by a genomic rearrangement: clinical findings and molecular cytogenetic studies in a patient with a pericentric inversion of …
T Schmidt, T Bierhals, F Kortüm, I Bartels… - … and Genome Research, 2013 - karger.com
Abstract Branchio-oto-renal (BOR) syndrome is an autosomal dominantly inherited
developmental disorder, which is characterized by anomalies of the ears, the branchial …
developmental disorder, which is characterized by anomalies of the ears, the branchial …