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1. 遺伝性乳癌・卵巣癌症候群の概要 overview of hereditary breast and ovarian cancer syndromes
2. 喘息の遺伝学 genetics of asthma
3. 成人における片頭痛の病態生理、臨床症状、および診断 pathophysiology clinical manifestations and diagnosis of migraine in adults
4. 先天性骨髄性ポルフィリン症 congenital erythropoietic porphyria

English Journal

A Novel TNNI2 Mutation Causes Freeman-Sheldon Syndrome in a Chinese Family with an Affected Adult with Only Facial Contractures.

Li X, Jiang M, Han W, Zhao N, Liu W, Sui Y, Lu Y, Li J.SourceKey Laboratory of Reproductive Health of Liaoning Province, Shenyang, China.
Gene.Gene.2013 Jul 11. pii: S0378-1119(13)00850-0. doi: 10.1016/j.gene.2013.06.082. [Epub ahead of print]
Distal arthrogryposes (DAs), a clinically and genetically heterogeneous group of disorders characterized by congenital contractures with predominant involvement of the hands and feet, can be classified into at least 12 different forms. These autosomal dominant disorders are of variable expressivity
PMID 23850728

Feng YP, Ke X, Zhai M, Xin Q, Gong YQ, Liu QJ.SourceKey Laboratory for Experimental Teratology of the Ministry of Education and Department of Medical Genetics, Shandong University School of Medicine, Jinan 250012, People's Republic of China. liuqiji@sdu.edu.cn.
Singapore medical journal.Singapore Med J.2013 May;54(5):251-4.
Introduction: Hereditary spastic paraplegia (HSP) belongs to a large, heterogeneous group of progressive neurodegenerative diseases characterised by progressive lower extremity weakness and spasticity, which is caused by developmental failure or degeneration of motor axons in the corticospinal tract
PMID 23716148

Familial cosegregation of rare genetic variants with disease in complex disorders.

Helbig I, Hodge SE, Ottman R.SourceDepartment of Neuropediatrics, Christian-Albrechts-University Kiel, Kiel, Germany.
European journal of human genetics : EJHG.Eur J Hum Genet.2013 Apr;21(4):444-50. doi: 10.1038/ejhg.2012.194. Epub 2012 Sep 26.
Family-based designs are increasingly being used for identification of rare variants in complex disorders. This paper addresses two questions related to the utility of these designs. First, under what circumstances are rare disease-related variants expected to cosegregate with disease in families S
PMID 23010752

Tsubokura Yasutaka,Hajika Makita,Harada Kyuya
Breeding science 56(2), 113-117, 2006-06
… Two β subunit gene loci were found to cosegregate with β-conglycinin deficiency with the DNA marker based on SNPs in a F_2 population derived from a cross between Fukuyutaka and QY7-25. …
NAID 110004737687

Tsubokura Yasutaka,Hajika Makita,Harada Kyuya
Breeding Science 56(2), 113-117, 2006
… Two β subunit gene loci were found to cosegregate with β-conglycinin deficiency with the DNA marker based on SNPs in a F2 population derived from a cross between Fukuyutaka and QY7-25. …
NAID 130004057007