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上海交通大学内科学专业导师介绍:乔洁

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作者 论文标题 期刊名 出版年 卷期页码
Zhu H, Liu W, Han B, Fan M, Zhao S, Wang H, Lu Y, Pan C, Chen F, Chen M, Song H, Cheng K, Phenotypic and molecular characteristics in eleven Chinese patients with 5α-reductase Type 2 deficiency  Clin Endocrinol (Oxf)  2014  81(5):711-720 
Agrawal V, Tee MK,, Muench MO, Miller WL  Potential role of increased oxygenation in altering perinatal adrenal steroidogenesis.  Pediatr Res  2014  77(2):298-309 
Xue LQ, Han B, Chen LB, Pan CM, Zhu H, Liu BL, Liu W, Wu WL, Chen MD, Lu YL,, Song HD  Identification of a novel mutation in CYP17A1 gene.   Transl Res.   2013  161(1):44-49 
Han B, Liu W, Zuo CL, Zhu H, Li L, Xu C, Wang XJ, Liu BL, Pan CM, Lu YL, Wu WL, Chen MD, Song HD, Cheng KX, Identifying a novel mutation of CYP17A1  Gene  2013  516(2):346-350 
Han B, Song ZY, Wu JJ, Liu W, Liu BL, Ye XP, Chen X, Pan CM, Xu HY, Li L, Zhu H, Lu YL, Wu WL, Chen MD, Song HD, A novel intronic mutation and a missense mutation of MEN1 identified in two Chinese families with multiple endocrine neoplasia type 1(MEN1).   J Endocrinol Invest.  2012  16 (4) : 226-10 
Xu C,, Liu W, Jiang X, Yan F, Wu J, Han B, Zhang H, Guan Q, Gao L, Zhao J.   Identification and functional characterization of a large deletion of the  Horm Res Paediatr. 2012;78(4):212-7  2012  78(4):212-217 
Fan JY, Han B,, Liu BL, Ji YR, Ge SF, Song HD, Fan XQ.  Functional study on a novel missense mutation of the transcription factor FOXL2 causes blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).  Mutagenesis  2011  26(2):283-9 
Han B, Wang ZQ, Xue LQ, Ma JH, Liu W, Liu BL, Wu JJ, Pan CM, Chen X, Zhao SX, Lu YL, Wu WL,, Song HD.  Functional study of an aberrant splicing variant of the human luteinizing hormone (LH) receptor.   Mol Hum Reprod.  2011  18(3):129-35. 
, Han B, Liu BL, Liu W, Wu JJ, Pan CM, Jiang H, Gu T, Jiang BR, Zhu H,Lu YL, Wu WL, Chen MD, Song HD.  A unique exonic splicing mutation in the CYP17A1 gene as the cause for steroid 17{alpha}-hydroxylase deficiency.   Eur J Endocrinol.  2011  164:627-33 
Han B, Wang ZQ, Xue LQ, Ma JH, Liu W, Liu BL, Wu JJ, Pan CM, Chen X, Zhao SX, Lu YL, Wu WL,, Song HD.  Functional study of an aberrant splicing variant of the human luteinizing hormone (LH) receptor.   Mol Hum Reprod.  2011  18(3):129-35. 
, Chen X, Zuo CL, et al.  Identification of steroid biosynthetic defects in genotype-proven heterozygous individuals for 17alpha-hydroxylase/17,20- lyase deficiency.   Clin Endocrinol (Oxf)。  2010  72 (3):312-9. 
,韩兵,陈霞,刘炳丽,郭郁郁,龚静,陆颖理,吴万龄,宋怀东,陈名道。  新的LH受体突变致Leydig细胞发育不全的家系研究。  中华内分泌代谢杂志。  2010  26 (5) : 377-380 
孙菲,陈霞,刘炳丽,,宋怀东。  21-羟化酶缺乏症全基因测序诊断方法的建立。  中华内分泌代谢杂志  2010  64: 982-987 
刘炳丽,,陈霞等。  5个17α-羟化酶/17,20-碳链裂解酶缺陷症家系7例患者的临床和分子遗传学研究。  中华遗传学杂志  2009  26:282-287 
, Han B, Liu BL, et al  A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism.  Hum Mutat.  2009  Jun 23:E335-345 
, Hu RM, Peng YD, Song HD, Peng YW, Gao GF, Hao JH, Hu NY, Xu MY, Chen JL.  A complex heterozygous mutation of His373Leu and Asp487-Ser488-Phe489 deletion in human cytochrome P450c17 causes 17alpha-hydroxylase/17,20-lyase deficiency in three Chinese sisters.  Mol Cell Endocrinol.  2003  201(1-2):189-95. 
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