13301甲第4181号博士(医学)金沢大学博士論文要旨Abstract 要約Outline 以下に掲載:Brain and Development 37(7) pp.677-689 2015. 一般社団法人日本小児神経学会. 共著者:Akiko Okumura, Mamoru Ozaki, Yo Niid
Background/aim: Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder. Clinical ...
Objective:As clinically validated biomarkers for neurofibromatosis 1 (NF1) and neurofibromatosis 2 (...
The present paper reports the results of an epidemiological, genetic and clinical study on neurofibr...
Objective: Mutation analysis of NF1, the responsible gene for neurofibromatosis type 1 (NF1), is sti...
平成11年度(学位授与年月日:1999-06-17), 乙医第272号Ehime University (愛媛大学)Doctral(includes post-doctral)博士(医学
To establish preclinical DNA-diagnosis of neurofibromatosis type 1 (NF1) in familial cases we have i...
The authors report the study of DNA polymorphic sequences, 5 intragenic and 5 flanking the NF1 gene,...
目的:检测I型神经纤维瘤病患者的NF1基因突变。方法:提取I型神经纤维瘤病1家系、1例散发患者及200名正常对照外周血DNA,PCR扩增NF1基因全部外显子及侧翼序列并进行Sanger测序。结果:在家...
Neurofibromatosis Type I (NF1) is a multi systemic autosomal dominant neurocutaneous disorder predis...
NF1 mutations are the underlying cause of neurofibromatosis type 1 (NF1), a neuro-cardio-facio-cutan...
Von Recklinghausen peripheral neurofibromatosis ( NF- 1 ), one of the most frequent , ubiquitous , c...
Our experience of providing an NF1 gene diagnostic mutation detection service as part of the UK Gene...
Introduction. Neurofibromatosis type 1 (NF1) is the most common hereditary tumor syndrome (frequency...
The authors report the results of a genetic analysis performed in 34 neurofibromatosis type 1 (NF1) ...
Fan Yang,1,2,* Song Xu,1,2,* Renwang Liu,1,2 Tao Shi,3 Xiongfei Li,1 Xuebing Li,2 Gang Chen,1 Hongyu...
Background/aim: Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder. Clinical ...
Objective:As clinically validated biomarkers for neurofibromatosis 1 (NF1) and neurofibromatosis 2 (...
The present paper reports the results of an epidemiological, genetic and clinical study on neurofibr...
Objective: Mutation analysis of NF1, the responsible gene for neurofibromatosis type 1 (NF1), is sti...
平成11年度(学位授与年月日:1999-06-17), 乙医第272号Ehime University (愛媛大学)Doctral(includes post-doctral)博士(医学
To establish preclinical DNA-diagnosis of neurofibromatosis type 1 (NF1) in familial cases we have i...
The authors report the study of DNA polymorphic sequences, 5 intragenic and 5 flanking the NF1 gene,...
目的:检测I型神经纤维瘤病患者的NF1基因突变。方法:提取I型神经纤维瘤病1家系、1例散发患者及200名正常对照外周血DNA,PCR扩增NF1基因全部外显子及侧翼序列并进行Sanger测序。结果:在家...
Neurofibromatosis Type I (NF1) is a multi systemic autosomal dominant neurocutaneous disorder predis...
NF1 mutations are the underlying cause of neurofibromatosis type 1 (NF1), a neuro-cardio-facio-cutan...
Von Recklinghausen peripheral neurofibromatosis ( NF- 1 ), one of the most frequent , ubiquitous , c...
Our experience of providing an NF1 gene diagnostic mutation detection service as part of the UK Gene...
Introduction. Neurofibromatosis type 1 (NF1) is the most common hereditary tumor syndrome (frequency...
The authors report the results of a genetic analysis performed in 34 neurofibromatosis type 1 (NF1) ...
Fan Yang,1,2,* Song Xu,1,2,* Renwang Liu,1,2 Tao Shi,3 Xiongfei Li,1 Xuebing Li,2 Gang Chen,1 Hongyu...
Background/aim: Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder. Clinical ...
Objective:As clinically validated biomarkers for neurofibromatosis 1 (NF1) and neurofibromatosis 2 (...
The present paper reports the results of an epidemiological, genetic and clinical study on neurofibr...