IR@PKUHSC

Browse/Search Results:  1-3 of 3 Help

Selected(0)Clear Items/Page:    Sort:
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome 期刊论文
AMERICAN JOURNAL OF HUMAN GENETICS, 2020, 卷号: 107, 期号: 1, 页码: 34-45
Authors:  Wang, Huijun;  Humbatova, Aytaj;  Liu, Yuanxiang;  Qin, Wen;  Lee, Mingyang;  Cesarato, Nicole;  Kortuem, Fanny;  Kumar, Sheetal;  Romano, Maria Teresa;  Dai, Shangzhi;  Mo, Ran;  Sivalingam, Sugirthan;  Motameny, Susanne;  Wu, Yuan;  Wang, Xiaopeng;  Niu, Xinwu;  Geng, Songmei;  Bornholdt, Dorothea;  Kroisel, Peter M.;  Tadini, Gianluca;  Walter, Scott D.;  Hauck, Fabian;  Girisha, Katta M.;  Calza, Anne-Marie;  Bottani, Armand;  Altmueller, Janine;  Buness, Andreas;  Yang, Shuxia;  Sun, Xiujuan;  Ma, Lin;  Kutsche, Kerstin;  Grzeschik, Karl-Heinz;  Betz, Regina C.;  Lin, Zhimiao
Favorite  |  View/Download:2/0  |  Submit date:2021/03/09
ICHTHYOSIS-FOLLICULARIS  CHOLESTEROL HOMEOSTASIS  HAIR  PHOTOPHOBIA  PROTEIN  DEFICIENCY  EXPRESSION  ALOPECIA  CLEAVAGE  ATRICHIA  
Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases A Mendelian Randomization Study 期刊论文
JAMA ONCOLOGY, 2017, 卷号: 3, 期号: 5, 页码: 636-651
Authors:  Haycock, Philip C.;  Burgess, Stephen;  Nounu, Aayah;  Zheng, Jie;  Okoli, George N.;  Bowden, Jack;  Wade, Kaitlin Hazel;  Timpson, Nicholas J.;  Evans, David M.;  Willeit, Peter;  Aviv, Abraham;  Gaunt, Tomr.;  Hemani, Gibran;  Mangino, Massimo;  Ellis, Hayley Patricia;  Kurian, Kathreena M.;  Pooley, Karen A.;  Eeles, Rosalind A.;  Lee, Jeffrey E.;  Fang, Shenying;  Chen, Wei V.;  Law, Matthew H.;  Bowdler, Lisa M.;  Iles, Mark M.;  Yang, Qiong;  Worrall, Bradford B.;  Markus, Hugh Stephen;  Hung, Rayjean J.;  Amos, Chris I.;  Spurdle, Amanda B.;  Thompson, Deborah J.;  O′  Mara, Tracy A.;  Wolpin, Brian;  Amundadottir, Laufey;  Stolzenberg-Solomon, Rachael;  Trichopoulou, Antonia;  Onland-Moret, Charlotte;  Lund, Eiliv;  Duell, Eric J.;  Canzian, Federico;  Severi, Gianluca;  Overvad, Kim;  Gunter, Marc J.;  Tumino, Rosario;  Svenson, Ulrika;  van Rij, Andre;  Baas, Annette F.;  Bown, Matthew J.;  Samani, Nilesh J.;  van t′  Hof, Femke N. G.;  Tromp, Gerard;  Jones, Gregory T.;  Kuivaniemi, Helena;  Elmore, James R.;  Johansson, Mattias;  Mckay, James;  Scelo, Ghislaine;  carreras-Torres, Robert;  Gaborieau, Valerie;  Brennan, Paul;  Bracci, Paige M.;  Neale, Rachel E.;  Olson, Sara H.;  Gallinger, Steven;  Li, Donghui;  Petersen, Gloria M.;  Risch, Harvey A.;  Klein, Alison P.;  Han, Jiali;  Abnet, Christian C.;  Freedman, Neal D.;  Taylor, Philip R.;  Maris, John M.;  Aben, Katja K.;  Kiemeney, Lambertus A.;  Vermeulen, Sita H.;  Wiencke, John K.;  Walsh, Kyle M.;  Wrensch, Margaret;  Rice, Terri;  Turnbull, Clare;  Litchfield, Kevin;  Paternoster, Lavinia;  Standl, Marie;  Abecasis, Goncalo R.;  SanGiovanni, John Paul;  Li, Yong;  Mijatovic, Vladan;  Sapkota, Yadav;  Low, Siew-Kee;  Zondervan, Krina T.;  Montgomery, Grant W.;  Nyholt, Dale R.;  van Heel, David A.;  Hunt, Karen;  Arking, Dan E.;  Ashar, Foram N.;  Sotoodehnia, Nona;  Woo, Daniel;  Rosand, Jonathan;  Comeau, Mary E.;  Brown, W. Mark;  Silverman, Edwin K.;  Hokanson, John E.;  Cho, Michael H.;  Hui, Jennie;  Ferreira, Manuel A.;  Thompson, Philip J.;  Morrison, Alanna C.;  Felix, Janine F.;  Smith, Nicholas L.;  Christiano, Angela M.;  Petukhova, Lynn;  Betz, Regina C.;  Fan, Xing;  Zhang, Xuejun;  Zhu, Caihong;  Langefeld, Carl D.;  Thompson, Susan D.;  Wang, Feijie;  Lin, Xu;  Schwartz, David A.;  Fingerlin, Tasha;  Rotter, Jerome I.;  Cotch, Mary Frances;  Jensen, Richard A.;  Munz, Matthias;  Dommisch, Henrik;  Schaefer, Arne S.;  Han, Fang;  Ollila, Hanna M.;  Hillary, Ryan P.;  Albagha, Omar;  Ralston, Stuart H.;  Zeng, Chenjie;  Zheng, Wei;  Shu, Xiao-Ou;  Reis, Andre;  Uebe, Steffen;  Hueffmeier, Ulrike;  Kawamura, Yoshiya;  Otowa, Takeshi;  Sasaki, Tsukasa;  Hibberd, Martin Lloyd;  Davila, Sonia;  Xie, Gang;  Siminovitch, Katherine;  Bei, Jin-Xin;  Zeng, Yi-Xin;  Foersti, Asta;  Chen, Bowang;  Landi, Stefano;  Franke, Andre;  Fischer, Annegret;  Ellinghaus, David;  Flores, Carlos;  Noth, Imre;  Ma, Shwu-Fan;  Foo, Jia Nee;  Liu, Jianjun;  Kim, Jong-Won;  Cox, David G.;  Delattre, Olivier;  Mirabeau, Olivier;  Skibola, Christine F.;  Tang, Clara S.;  Garcia-Barcelo, Merce;  Chang, Kai-Ping;  Su, Wen-Hui;  Chang, Yu-Sun;  Martin, Nicholas G.;  Gordon, Scott;  Wade, Tracey D.;  Lee, Chaeyoung;  Kubo, Michiaki;  Cha, Pei-Chieng;  Nakamura, Yusuke;  Levy, Daniel;  Kimura, Masayuki;  Hwang, Shih-Jen;  Hunt, Steven;  Spector, Tim;  Soranzo, Nicole;  Manichaikul, Aniw.;  Barr, Graham;  Kahali, Bratati;  Speliotes, Elizabeth;  Yerges-Armstrong, LauraM.;  Cheng, Ching-Yu;  Jonas, Jost B.;  Wong, Tien Yin;  Fogh, Isabella;  Lin, Kuang;  Powell, John F.;  Rice, Kenneth;  Relton, Caroline L.;  Martin, Richard M.;  Smith, George Davey;  Telomeres Mendelian Randomization;  Haycock, Philip C.(1,2)
Favorite  |  View/Download:6/0  |  Submit date:2018/06/22
Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia 期刊论文
AMERICAN JOURNAL OF HUMAN GENETICS, 2012, 卷号: 91, 期号: 5, 页码: 906-911
Authors:  Lin, Zhimiao;  Chen, Quan;  Shi, Lei;  Lee, Mingyang;  Giehl, Kathrin A.;  Tang, Zhanli;  Wang, Huijun;  Zhang, Jie;  Yin, Jinghua;  Wu, Lingshen;  Xiao, Ruo;  Liu, Xuanzhu;  Dai, Lanlan;  Zhu, Xuejun;  Li, Ruoyu;  Betz, Regina C.;  Zhang, Xue;  Yang, Yong
Adobe PDF(736Kb)  |  Favorite  |  View/Download:8/0  |  Submit date:2016/11/14