Role of matrix metalloproteases 1/3 gene polymorphisms in patients with rotator cuff tear

por Miao, Kaisong, Jiang, Lifeng, Zhou, Xindie, Wu, Lidong, Huang, Yong, Xu, Nanwei, Zhang, Junjie, Li, Jin
Publicado 2019

Reply to comments on: “Obesity associated with a novel mitochondrial tRNA(Cys) 5802A>G mutation in a Chinese family”

por Wang, Jinling, Zhao, Ningning, Mao, Xiaoting, Meng, Feilong, Huang, Ke, Dong, Guanping, Ji, Yanchun, Fu, JunFen
Publicado 2020

The association between Interleukin-6 rs1800795/rs1800797 polymorphisms and risk of rotator cuff tear in a Chinese population

por Li, Jin, Jiang, Lifeng, Zhou, Xindie, Wu, Lidong, Li, Dong, Chen, Gang
Publicado 2020

Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism

por Yuan, Zhuang-Zhuang, Yu, Fang, Jin, Jie-Yuan, Jiao, Zi-Jun, Tang, Ju-Yu, Xiang, Rong
Publicado 2020

Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome

por Deng, Sheng, Wu, Shan, Xia, Hong, Xiong, Wei, Deng, Xiong, Liao, Junxi, Deng, Hao, Yuan, Lamei
Publicado 2020

Mitochondrial tRNA mutations in Chinese children with tic disorders

por Jiang, Peifang, Ling, Yinjie, Zhu, Tao, Luo, Xiaoying, Tao, Yilin, Meng, Feilong, Cheng, Weixin, Ji, Yanchun
Publicado 2020

Characterization of functionally deficient SIM2 variants found in patients with neurological phenotypes

por Button, Emily L., Rossi, Joseph J., McDougal, Daniel P., Bruning, John B., Peet, Daniel J., Bersten, David C., Rosenfeld, Jill A., Whitelaw, Murray L.
Publicado 2022

Genetic variants and haplotypes in fibulin-5 (FBLN5) are associated with pseudoexfoliation glaucoma but not with pseudoexfoliation syndrome

por Kapuganti, Ramani Shyam, Bharati, Barsha, Mohanty, Pranjya Paramita, Alone, Debasmita Pankaj
Publicado 2023

Mutation update for the ACTN2 gene

por Ranta‐aho, Johanna, Olive, Montse, Vandroux, Marie, Roticiani, Giorgia, Dominguez, Cristina, Johari, Mridul, Torella, Annalaura, Böhm, Johann, Turon, Janina, Nigro, Vincenzo, Hackman, Peter, Laporte, Jocelyn, Udd, Bjarne, Savarese, Marco
Publicado 2022

HIST1H1E syndrome with deficiency in multiple pituitary hormones

por Tanabe, Yuko, Nomura, Naohiro, Minami, Miki, Takaya, Junji, Okamoto, Nobuhiko, Yanagi, Kumiko, Kaname, Tadashi, Fujii, Yoshimitsu, Kaneko, Kazunari
Publicado 2023

Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome

por Maselli, R A, Ng, J J, Anderson, J A, Cagney, O, Arredondo, J, Williams, C, Wessel, H B, Abdel-Hamid, H, Wollmann, R L
Publicado 2009

Lynch Syndrome-associated Mutations in MSH2 Alter DNA Repair and Checkpoint Response Functions In Vivo

por Mastrocola, Adam S, Heinen, Christopher D
Publicado 2010

Congenital Insensitivity to Pain: Novel SCN9A Missense and In-Frame Deletion Mutations

por Cox, James J, Sheynin, Jony, Shorer, Zamir, Reimann, Frank, Nicholas, Adeline K, Zubovic, Lorena, Baralle, Marco, Wraige, Elizabeth, Manor, Esther, Levy, Jacov, Woods, C Geoffery, Parvari, Ruti
Publicado 2010

Transcriptional and Translational Effects of Intronic CAPN3 Gene Mutations

por Nascimbeni, Anna Chiara, Fanin, Marina, Tasca, Elisabetta, Angelini, Corrado
Publicado 2010

Clinical and genetic spectrum of Birt–Hogg–Dubé syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature

por Kunogi, Makiko, Kurihara, Masatoshi, Ikegami, Takako Shigihara, Kobayashi, Toshiyuki, Shindo, Noriko, Kumasaka, Toshio, Gunji, Yoko, Kikkawa, Mika, Iwakami, Shin-ichiro, Hino, Okio, Takahashi, Kazuhisa, Seyama, Kuniaki
Publicado 2010

Plectin Deficiency Leads to Both Muscular Dystrophy and Pyloric Atresia in Epidermolysis Bullosa Simplex

por Natsuga, Ken, Nishie, Wataru, Shinkuma, Satoru, Arita, Ken, Nakamura, Hideki, Ohyama, Makiko, Osaka, Hitoshi, Kambara, Takeshi, Hirako, Yoshiaki, Shimizu, Hiroshi
Publicado 2010

A Rare Novel Deletion of the Tyrosine Hydroxylase Gene in Parkinson Disease

por Bademci, Güney, Edwards, Todd L, Torres, Andre L, Scott, William K, Züchner, Stephan, Martin, Eden R, Vance, Jeffery M, Wang, Liyong
Publicado 2010

Mutations and Deletions in PCDH19 Account for Various Familial or Isolated Epilepsies in Females

por Depienne, Christel, Trouillard, Oriane, Bouteiller, Delphine, Gourfinkel-An, Isabelle, Poirier, Karine, Rivier, François, Berquin, Patrick, Nabbout, Rima, Chaigne, Denys, Steschenko, Dominique, Gautier, Agnès, Hoffman-Zacharska, Dorota, Lannuzel, Annie, Lackmy-Port-Lis, Marilyn, Maurey, Hélène, Dusser, Anne, Bru, Marie, Gilbert-Dussardier, Brigitte, Roubertie, Agathe, Kaminska, Anna, Whalen, Sandra, Mignot, Cyril, Baulac, Stéphanie, Lesca, Gaetan, Arzimanoglou, Alexis, LeGuern, Eric
Publicado 2011

Evaluation of Germline BMP4 Mutation as a Cause of Colorectal Cancer

por Lubbe, Steven J, Pittman, Alan M, Matijssen, Cornelis, Twiss, Philip, Olver, Bianca, Lloyd, Amy, Qureshi, Mobshra, Brown, Nathan, Nye, Emma, Stamp, Gordon, Blagg, Julian, Houlston, Richard S
Publicado 2011

A Novel CRYGD Mutation (p.Trp43Arg) Causing Autosomal Dominant Congenital Cataract in a Chinese Family

por Wang, Binbin, Yu, Changhong, Xi, Yi-Bo, Cai, Hong-Chen, Wang, Jing, Zhou, Sirui, Zhou, Shiyi, Wu, Yi, Yan, Yong-Bin, Ma, Xu, Xie, Lixin
Publicado 2011