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- 1. 肥満の病因 pathogenesis of obesity
- 2. 先天異常の遺伝学的および環境的原因 genetic and environmental causes of birth defects
- 3. 先天性性腺刺激ホルモン放出ホルモン欠乏症（特発性低ゴナドトロピン性性腺機能低下） congenital gonadotropin releasing hormone deficiency idiopathic hypogonadotropic hypogonadism
- 4. 原発性免疫不全症に対する遺伝子治療 gene therapy for primary immunodeficiency
- 5. 大腸癌の分子遺伝学 molecular genetics of colorectal cancer
- SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies.
- Mauri L, Barone L, Al Oum M, Del Longo A, Piozzi E, Manfredini E, Stanzial F, Benedicenti F, Penco S, Patrosso MC.SourceMedical Genetics Unit, Niguarda Ca' Granda Hospital, Milan, Italy.
- Gene.Gene.2014 Jan 1;533(1):398-402. doi: 10.1016/j.gene.2013.09.053. Epub 2013 Oct 3.
- BACKGROUND: Oculocutaneous Albinism (OCA) is a heterogeneous group of inherited diseases involving hair, skin and eyes. To date, six forms are recognized on the effects of different melanogenesis genes. OCA4 is caused by mutations in SLC45A2 showing a heterogeneous phenotype ranging from white hair,
- PMID 24096233
- Chromosome 17p13.3 deletion syndrome: aCGH characterization, prenatal findings and diagnosis, and literature review.
- Chen CP, Chang TY, Guo WY, Wu PC, Wang LK, Chern SR, Wu PS, Su JW, Chen YT, Chen LF, Wang W.SourceDepartment of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: email@example.com.
- Gene.Gene.2013 Dec 10;532(1):152-9. doi: 10.1016/j.gene.2013.09.044. Epub 2013 Sep 19.
- We report a molecular cytogenetic characterization of 17p13.3 deletion syndrome by array comparative genomic hybridization (aCGH), fluorescence in situ hybridization (FISH) and quantitative polymerase chain reaction (qPCR) in a fetus with lissencephaly, corpus callosum dysgenesis, ventriculomegaly,
- PMID 24055730
- Complementation of a Defect in the Asparagine-Linked Glycosylation of a Mouse FM3A Mutant G258 Cell Line by Spheroplast Fusion of a Human Mega YAC Clone 923f5
- Bioscience, biotechnology, and biochemistry 76(1), 108-114, 2012-01-23
- NAID 10030398673
- 日本小児腎臓病学会雑誌 25(2), 127-131, 2012
- NAID 130003346839
- Regulation of Complex Brain Wiring via Diverse Ig Receptor Arising from a Single Gene
- Journal of Oral Biosciences 52(4), 378-387, 2010
- NAID 130004475723
- Diseases exist, though, that are not inherited in accordance with Mendel's laws. To these belong defects of the mitochondrial genome as well as illnesses that are due to alterations of various genes (polygeny) or in which ...
- ... we refer to it as a single gene genetic disorder or a Mendelian disorder Types of single gene disorders The occurrence of a disease caused by a single gene mutation may occur in several main patterns or modes. These are ...
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