- 非症候性の
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- 1. 小児における難聴の病因 etiology of hearing impairment in children
- 2. 口唇口蓋裂の病因、出生前診断、産科管理、および再発 etiology prenatal diagnosis obstetrical management and recurrence of orofacial clefts
- 3. 肝内胆管の消失および胆管消失症候群 hepatic ductopenia and vanishing bile duct syndrome
- 4. 非メンデル遺伝のパターン non mendelian inheritance patterns
- 5. 歯の発達障害 developmental defects of the teeth
English Journal
- Identification of candidate downstream targets of TGFβ signaling during palate development by genome-wide transcript profiling.
- Pelikan RC, Iwata J, Suzuki A, Chai Y, Hacia JG.SourceCenter for Craniofacial Molecular Biology, Herman Ostrow School of Dentistry, University of Southern California, Los Angeles, California.
- Journal of cellular biochemistry.J Cell Biochem.2013 Apr;114(4):796-807. doi: 10.1002/jcb.24417.
- Nonsyndromic orofacial clefts are common birth defects whose etiology is influenced by complex genetic and environmental factors and gene-environment interactions. Although these risk factors are not yet fully elucidated, it is known that alterations in transforming growth factor-beta (TGFβ) signal
- PMID 23060211
- Genetic Studies of TYRP1 and SLC45A2 in Pakistani Patients with Nonsyndromic Oculocutaneous Albinism.
- Kausar T, Jaworek TJ, Tariq N, Sadia S, Ali M, Shaikh RS, Ahmed ZM.Source1] Division of Pediatric Ophthalmology, Cincinnati Children's Hospital Research Foundation, Cincinnati, Ohio, USA [2] Institute of Molecular Biology and Biotechnology, Bahauddin Zakariya University, Multan, Pakistan.
- The Journal of investigative dermatology.J Invest Dermatol.2013 Apr;133(4):1099-102. doi: 10.1038/jid.2012.432. Epub 2012 Nov 29.
- PMID 23190901
- Contribution of GJB2 Mutations to Hearing Loss in the Hazara Division of Pakistan.
- Bukhari I, Mujtaba G, Naz S.SourceSchool of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, Lahore, 54590, Pakistan.
- Biochemical genetics.Biochem Genet.2013 Mar 17. [Epub ahead of print]
- Mutations of GJB2, which encodes connexin 26, are the most common cause of hereditary hearing loss in many human populations. This study was initiated to determine the prevalence of GJB2 mutations in individuals with hearing loss from the Hazara Division in Pakistan. We recruited 70 participants wit
- PMID 23504403
Japanese Journal
- A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13
- ANSAR Muhammad,LEE Kwanghyuk,NAQVI Syed Kamran-ul-Hassan,ANDRADE Paula B,BASIT Sulman,SANTOS-CORTEZ Regie Lyn P,AHMAD Wasim,LEAL Suzanne M
- Journal of human genetics 56(12), 866-868, 2011-12-01
- NAID 10030662060
- A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31p36.13
- Ansar Muhammad,Lee Kwanghyuk,Naqvi Syed Kamran-ul-Hassan [他]
- Journal of human genetics 56(12), 866-868, 2011-12-00
- NAID 40019126346
- Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations
- Mahdieh Nejat,Rabbani Bahareh,Wiley Susan [他],AKBARI Mohammad Taghi,ZEINALI Sirous
- Journal of human genetics 55(10), 639-648, 2010-10-01
- NAID 10030736920
Related Links
- Definition of nonsyndromic in the Definitions.net dictionary. Meaning of nonsyndromic. What does nonsyndromic mean? Information and translations of nonsyndromic in the most comprehensive dictionary definitions resource on the ...
- Nonsyndromic deafness can have different patterns of inheritance. Between 75 percent and 80 percent of cases are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.
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| 拡張検索 | 「nonsyndromic deafness」「nonsyndromic hearing loss」 |
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- 非症候性の