يعرض 1 - 5 نتائج من 5 نتيجة بحث عن '"Branchio-Oto-Renal Syndrome"', وقت الاستعلام: 0.67s تنقيح النتائج
  1. 1
    دورية أكاديمية
    From clinical to molecular diagnosis: relevance of diagnostic strategy in two cases of branchio-oto-renal syndrome – case report.

    المؤلفون: Cacciatori, Elena, Aleo, Sebastiano, Scuvera, Giulietta, Rigon, Chiara, Marchisio, Paola Giovanna, Cassina, Matteo, Milani, Donatella

    المصدر: Italian Journal of Pediatrics; 10/1/2022, Vol. 48 Issue 1, p1-6, 6p

    مصطلحات موضوعية: MOLECULAR diagnosis, SEQUENCE analysis, DEAFNESS, GENETIC polymorphisms, BRANCHIO-oto-renal syndrome, CHROMOSOME abnormalities

    النص الكامل

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  2. 2
    دورية أكاديمية
    Recurrent 8q13.2-13.3 microdeletions associated with Branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks.

    المؤلفون: Xiaoli Chen1 cxlwx@sina.com, Jun Wang2 colalawang@sina.cn, Mitchell, Elyse3 Mitchell.Elyse@mayo.edu, Jin Guo1 guoguo0520@sina.com, Liwen Wang2 wangliwen2@vip.sina.com, Yu Zhang1 zangyu0612@sohu.com, Hodge, Jennelle C.3,4 Jennelle.Hodge@csmc.edu, Yiping Shen5,6,7 Yiping.Shen@childrens.harvard.edu

    المصدر: BMC Medical Genetics. 2014, Vol. 15 Issue 1, p1-17. 17p.

    مصطلحات موضوعية: *DELETION mutation, *BRANCHIO-oto-renal syndrome, *HUMAN endogenous retroviruses, *BIOCHEMICAL substrates, *GENOMES

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  3. 3
    دورية أكاديمية
    A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome.

    المؤلفون: Wang, Yan-gong1 14111510016@fudan.edu.cn, Sun, Shu-ping2 apple85120@163.com, Qiu, Yi-ling3 nessyqiu@126.com, Xing, Qing-he1 xingqinghe@hotmail.com, Lu, Wei2 luweimd@hotmail.com

    المصدر: BMC Medical Genetics. 8/7/2018, Vol. 19 Issue 1, pN.PAG-N.PAG. 1p.

    مصطلحات موضوعية: *BRANCHIO-oto-renal syndrome, *PHENOTYPES, *DNA, *GENETIC testing, *DEAFNESS

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  4. 4
    دورية أكاديمية
    Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation.

    المؤلفون: Gigante, Maddalena, d'Altilia, Marilena, Montemurno, Eustacchio, Diella, Sterpeta, Bruno, Francesca, Netti, Giuseppe S., Ranieri, Elena, Stallone, Giovanni, Infante, Barbara, Grandaliano, Giuseppe, Gesualdo, Loreto

    المصدر: BMC Nephrology; 2013, Vol. 14 Issue 1, p1-5, 5p

    مصطلحات موضوعية: BRANCHIO-oto-renal syndrome, FOCAL segmental glomerulosclerosis, GENETIC mutation, KIDNEY abnormalities, DROSOPHILA, CARRIER proteins, PROTEIN-protein interactions, PROTEINURIA

    النص الكامل

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  5. 5
    دورية أكاديمية
    Recurrent 8q13.2-13.3 microdeletions associated with Branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks

    المؤلفون: Chen, Xiaoli, Wang, Jun, Mitchell, Elyse, Guo, Jin, Wang, Liwen, Zhang, Yu, Hodge, Jennelle C, Shen, Yiping

    مصطلحات موضوعية: De novo 8q13.2-13.3 microdeletion, Human endogenous retroviral (HERV) sequences, Branchio-oto-renal syndrome, Mesomelia-synostoses syndrome

    وصف الملف: application/pdf

    العلاقة: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4152767/pdfTest/; BMC Medical Genetics; Chen, Xiaoli, Jun Wang, Elyse Mitchell, Jin Guo, Liwen Wang, Yu Zhang, Jennelle C Hodge, and Yiping Shen. 2014. “Recurrent 8q13.2-13.3 microdeletions associated with Branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks.” BMC Medical Genetics 15 (1): 90. doi:10.1186/s12881-014-0090-9. http://dx.doi.org/10.1186/s12881-014-0090-9Test.; http://nrs.harvard.edu/urn-3:HUL.InstRepos:12987412Test

    الإتاحة: https://doi.org/10.1186/s12881-014-0090-9Test
    http://nrs.harvard.edu/urn-3:HUL.InstRepos:12987412Test

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