öλÔÓéÀֵǼÈë¿ÚÏÂÔØ

µ¼Ê¦ÐÕÃû£º³£²¨
ÐÔ±ð£º
ÈËÆøÖ¸Êý£º46

ËùÊôԺУ£º´óÁ¬Ò½¿Æ´óѧ
ËùÊôԺϵ£º
Ö°³Æ£º½ÌÊÚ
µ¼Ê¦ÀàÐÍ£º
ÕÐÉúöλÔÓéÀֵǼÈë¿ÚÏÂÔØ£º¶ù¿Æѧ
Ñо¿ÁìÓò£º Ö÷¹¥¶ù¿Æ³£¼û²¡ºÍ¶à·¢²¡£¬ÓÈÆäÊÇС¶ùÄÚ·ÖÃÚöλÔÓéÀֵǼÈë¿ÚÏÂÔØÏà¹Ø¼²²¡
Ñо¿ÁìÓò£º Ö÷¹¥¶ù¿Æ³£¼û²¡ºÍ¶à·¢²¡£¬ÓÈÆäÊÇС¶ùÄÚ·ÖÃÚöλÔÓéÀֵǼÈë¿ÚÏÂÔØÏà¹Ø¼²²¡ [ÊÕÆð]




ͨѶ·½Ê½ :
µç×ÓÓʼþ£ºyue0229@126.com


¸öÈ˼òÊö :
³£²¨£¬²©Ê¿£¬Ö÷ÈÎҽʦ£¬½ÌÊÚ£¬ÏÖÈδóÁ¬ÊжùͯҽԺÃÅÕﲿÖ÷ÈΡ¢ÊäÒº¿ÆÖ÷ÈΡ¢ÄÚ·ÖÃÚѧ¿Æ´øÍ·ÈË¡£1994Äê±ÏÒµÓÚÁÉÄþҽѧԺ(Ô­½õÖÝҽѧԺ)ÁÙ´²Ò½Ñ§öλÔÓéÀֵǼÈë¿ÚÏÂÔØ£¬Í¬Äê·ÖÅäÖÁ´óÁ¬´óѧÁÙ´²Ò½Ñ§²¿¶ù¿Æ½ÌÑÐÊÒ£¨´óÁ¬´óѧ¸½ÊôлªÒ½Ôº¶ù¿Æ£©¹¤×÷, 1999Äê½úÉýΪÖ÷ÖÎҽʦ£¬2001Äê»ñµÃ˶ʿѧ룬2004Äê½úÉýΪ¸±Ö÷ÈÎҽʦ£¬2005Äê»ñµÃ¹ú¼Ò¶þ¼¶ÐÄÀí×Éѯʦ֤Ê飬2010ÄêÖйúÒ½¿Æ´óѧ¶ù¿ÆѧÄÚ·ÖÃÚöλÔÓéÀֵǼÈë¿ÚÏÂÔز©Ê¿±ÏÒµ£¬Í¬Äê12Ô»ñµÃÈÕ±¾¸»É½´óѧ²©Ê¿Ñ§Î»¡£2012Äê5Ôµ÷Èë´óÁ¬ÊжùͯҽԺ¹¤×÷£¬Ò»Ö±´Óʶù¿ÆÁÙ´²Ò½ÁÆ¡¢½ÌѧºÍ¿ÆÑй¤×÷,Ôøµ£Èιý¶ù¿Æѧ½ÌÑÐÊÒ½ÌѧÃØÊ飬Ôø¼æְѧ¿Æ½¨Éè°ì¹«ÊÒ¹¤×÷¡£ÈÈ°®¶ù¿ÆöλÔÓéÀֵǼÈë¿ÚÏÂÔØ£¬Äܹ»Õï¶ÏºÍÖÎÁƶù¿Æ³£¼û²¡¼°¶à·¢²¡£»¶ÔС¶ùÄÚ·ÖÃڵij£¼û²¡ºÍ¶à·¢²¡£¬Èç¼××´ÏÙ¼²²¡¡¢ÌÇÄò²¡¡¢Çà´ºÆÚ¼²²¡£¨°üÀ¨ÐÔÔçÊ죩¡¢·ÊÅÖÖ¢¡¢°«Ð¡Ö¢µÈ¼²²¡µÄÕï¶ÏºÍÖÎÁÆÓÐ×Ô¼º¶Àµ½µÄ¼û½â¡£2013ÄêÓÚÊ׶¼Ò½¿Æ´óѧ¸½Êô±±¾©¶ùͯҽԺÄÚ·ÖÃÚÒÅ´«´úлÖÐÐÄöλÔÓéÀֵǼÈë¿ÚÏÂÔؽøÐÞѧϰ°ëÄê¡£ÔøÓÚÖйúÒ½¿Æ´óѧ¸½ÊôÊ¢¾©Ò½Ôº¶ù¿ÆÖØÖ¢½øÐÞѧϰ¡£¶àÄêÀ´¹²·¢±íÖø×÷1±¾£¬ÂÛÎÄ19ƪ£¬ÆäÖеÚ1×÷Õß11ƪ£¨2ƪSCI£©£¬µÚ2×÷Õß4ƪ£¨2ƪSCI£©£¬µÚ3×÷Õß4ƪ¡£ÏȺó3´Î×÷ΪÖ÷½²È˽øÐÐÁËÊм¶µÄ¼ÌÐø½ÌÓý½²×ù¡£

¿ÆÑй¤×÷ :
·¢±íÂÛÎÄ
1. Bo Chang, Carlos Gorbea, George Lezin, Ling Li, Lishen Shan , Norio Sakai , Shigetoyo Kogaki ,Takanobu Otomo, Takeshi Okinaga, Akiko Hamaoka, Xianyi Yu, Yukiko Hata, Naoki Nishida,H. Joseph Yost, Neil E. Bowles, Luca Brunelli, Fukiko Ichida. 14-3-3¦Å Gene variants in a Japanese patient with left ventricular noncompaction and hypoplasia of the corpus callosum.Gene, 2013 515(1):173¨C180. £¨µÚÒ»×÷Õߣ© £»2.Bo Chang Tsutomu Nishizawa Michiko Furutani Akira Fujiki Masanao TaniMakoto Kawaguchi Keijiro Ibuki Keiichi Hirono Hiromichi Taneichi Keiichiro Uese Yoshiko OnumaNeil E Bowles Fukiko Ichida Hiroshi Inoue Rumiko Matsuoka. Indentification of a novel TPM1 mutation in a family with left ventricular noncompaction and sudden death. Molecular Genetics and Metabolism, **(2):200-206. £¨µÚÒ»×÷Õߣ© £»3. Bo Chang Nobuo Momoi Lishen Shan Masaki Mitomo Yoshimichi Aoyagi Kisei Endo Izumi Takeda Rui Chen Yanlin Xing Xianyi Yu Sayaka Watanabe Taketoshi Yoshida Hirokazu Kanegane Shinichi Tsubata Neil E Bowles Toshio Miyawaki. Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with Barth Syndrome and left ventricular noncompaction. Molecular Genetics and Metabolism. **(2): 198-203. £¨µÚÒ»×÷Õߣ© £»4. Nobuo Momoi, Bo Chang, Izumi Takeda, Yoshimichi Aoyagi, Kisei Endo, Fukiko Ichida.Clinical courses and outcomes of siblings with Barth syndrome and left ventricular noncompaction. European Journal pediatrics. 2012.3. 171(3):515-20)£»5. ³£²¨£¬ËÕÜ·.°«Éí²ÄµÄÖÎÁƽøÕ¹. ÖйúÖÐÎ÷Ò½½áºÏ¶ù¿Æѧ.2015.7(3):207-212.£¨µÚÒ»×÷Õߣ© ¡£