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New molecular mechanism for ullrich congenital muscular dystrophy a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype
New molecular mechanism for ullrich congenital muscular dystrophy a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype
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New molecular mechanism for ullrich congenital muscular dystrophy a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype

Te-Cheng Pan Rui Zhu Zhang; Dominick G Sudano; Suely K Marie; Carsten G Bonnemann; Mon Li Chu

American Journal of Human Genetics Chicago v. 73, p. 355-369, 2003

Chicago 2003

Localização: FM - Fac. Medicina    (FM BCSEP 2003 253 )(Acessar)

2
New molecular mechanism for ullrich congenital muscular dystrophy a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype
New molecular mechanism for ullrich congenital muscular dystrophy a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype
Material Type:
Artigo 		Adicionar ao Meu Espaço

New molecular mechanism for ullrich congenital muscular dystrophy a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype

Te-Cheng Pan Rui Zhu Zhang; Dominick G Sudano; Suely K Marie; Carsten G Bonnemann; Mon Li Chu

American Journal of Human Genetics Chicago v. 73, p. 355-369, 2003

Chicago 2003

Localização: FM - Fac. Medicina    (FM BCSEP 2003 253 )(Acessar)

3
Morbid Obesity Resulting from Inactivation of the Ciliary Protein CEP19 in Humans and Mice
Morbid Obesity Resulting from Inactivation of the Ciliary Protein CEP19 in Humans and Mice
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Morbid Obesity Resulting from Inactivation of the Ciliary Protein CEP19 in Humans and Mice

Shalata, Adel ; Ramirez, Maria C. ; Desnick, Robert J. ; Priedigkeit, Nolan ; Buettner, Christoph ; Lindtner, Claudia ; Mahroum, Mohammed ; Abdul-Ghani, Muhammad ; Dong, Feng ; Arar, Nazik ; Camacho-Vanegas, Olga ; Zhang, Rui ; Camacho, Sandra C. ; Chen, Ying ; Ibdah, Mwafaq ; DeFronzo, Ralph ; Gillespie, Virginia ; Kelley, Kevin ; Dynlacht, Brian D. ; Kim, Sehyun ; Glucksman, Marc J. ; Borochowitz, Zvi U. ; Martignetti, John A.

American journal of human genetics, 2013-12, Vol.93 (6), p.1061-1071 [Periódico revisado por pares]

United States: Elsevier Inc

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4
New Molecular Mechanism for Ullrich Congenital Muscular Dystrophy: A Heterozygous In-Frame Deletion in the COL6A1 Gene Causes a Severe Phenotype
New Molecular Mechanism for Ullrich Congenital Muscular Dystrophy: A Heterozygous In-Frame Deletion in the COL6A1 Gene Causes a Severe Phenotype
Material Type:
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New Molecular Mechanism for Ullrich Congenital Muscular Dystrophy: A Heterozygous In-Frame Deletion in the COL6A1 Gene Causes a Severe Phenotype

Pan, Te-Cheng ; Zhang, Rui-Zhu ; Sudano, Dominick G. ; Marie, Suely K. ; Bönnemann, Carsten G. ; Chu, Mon-Li

American journal of human genetics, 2003-08, Vol.73 (2), p.355-369 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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5
Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice
Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice
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Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice

Liu, Wangjie ; He, Xiaojin ; Yang, Shenmin ; Zouari, Raoudha ; Wang, Jiaxiong ; Wu, Huan ; Kherraf, Zine-Eddine ; Liu, Chunyu ; Coutton, Charles ; Zhao, Rui ; Tang, Dongdong ; Tang, Shuyan ; Lv, Mingrong ; Fang, Youyan ; Li, Weiyu ; Li, Hong ; Zhao, Jianyuan ; Wang, Xue ; Zhao, Shimin ; Zhang, Jingjing ; Arnoult, Christophe ; Jin, Li ; Zhang, Zhiguo ; Ray, Pierre F. ; Cao, Yunxia ; Zhang, Feng

American journal of human genetics, 2019-04, Vol.104 (4), p.738-748 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Missense Variants in HIF1A and LACC1 Contribute to Leprosy Risk in Han Chinese
Missense Variants in HIF1A and LACC1 Contribute to Leprosy Risk in Han Chinese
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Missense Variants in HIF1A and LACC1 Contribute to Leprosy Risk in Han Chinese

Wang, Dong ; Fan, Yu ; Malhi, Mahadev ; Bi, Rui ; Wu, Yong ; Xu, Min ; Yu, Xiu-Feng ; Long, Heng ; Li, Yu-Ye ; Zhang, Deng-Feng ; Yao, Yong-Gang

American journal of human genetics, 2018-05, Vol.102 (5), p.794-805 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice
Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice
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Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice

Tu, Chaofeng ; Cong, Jiangshan ; Zhang, Qianjun ; He, Xiaojin ; Zheng, Rui ; Yang, Xiaoxuan ; Gao, Yang ; Wu, Huan ; Lv, Mingrong ; Gu, Yayun ; Lu, Shuai ; Liu, Chunyu ; Tian, Shixiong ; Meng, Lanlan ; Wang, Weili ; Tan, Chen ; Nie, Hongchuan ; Li, Dongyan ; Zhang, Huan ; Gong, Fei ; Hu, Liang ; Lu, Guangxiu ; Xu, Wenming ; Lin, Ge ; Zhang, Feng ; Cao, Yunxia ; Tan, Yue-Qiu

American journal of human genetics, 2021-08, Vol.108 (8), p.1466-1477 [Periódico revisado por pares]

United States: Elsevier Inc

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8
High-throughput functional dissection of noncoding SNPs with biased allelic enhancer activity for insulin resistance-relevant phenotypes
High-throughput functional dissection of noncoding SNPs with biased allelic enhancer activity for insulin resistance-relevant phenotypes
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High-throughput functional dissection of noncoding SNPs with biased allelic enhancer activity for insulin resistance-relevant phenotypes

Duan, Yuan-Yuan ; Chen, Xiao-Feng ; Zhu, Ren-Jie ; Jia, Ying-Ying ; Huang, Xiao-Ting ; Zhang, Meng ; Yang, Ning ; Dong, Shan-Shan ; Zeng, Mengqi ; Feng, Zhihui ; Zhu, Dong-Li ; Wu, Hao ; Jiang, Feng ; Shi, Wei ; Hu, Wei-Xin ; Ke, Xin ; Chen, Hao ; Liu, Yunlong ; Jing, Rui-Hua ; Guo, Yan ; Li, Meng ; Yang, Tie-Lin

American journal of human genetics, 2023-08, Vol.110 (8), p.1266-1288 [Periódico revisado por pares]

United States: Elsevier Inc

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9
Copy-Number Mutations on Chromosome 17q24.2-q24.3 in Congenital Generalized Hypertrichosis Terminalis with or without Gingival Hyperplasia
Copy-Number Mutations on Chromosome 17q24.2-q24.3 in Congenital Generalized Hypertrichosis Terminalis with or without Gingival Hyperplasia
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Copy-Number Mutations on Chromosome 17q24.2-q24.3 in Congenital Generalized Hypertrichosis Terminalis with or without Gingival Hyperplasia

Sun, Miao ; Li, Ning ; Dong, Wu ; Chen, Zugen ; Liu, Qing ; Xu, Yiming ; He, Guang ; Shi, Yongyong ; Li, Xin ; Hao, Jiajie ; Luo, Yang ; Shang, Dandan ; Lv, Dan ; Ma, Fen ; Zhang, Dai ; Hua, Rui ; Lu, Chaoxia ; Wen, Yaran ; Cao, Lihua ; Irvine, Alan D. ; McLean, W.H. Irwin ; Dong, Qi ; Wang, Ming-Rong ; Yu, Jun ; He, Lin ; Lo, Wilson H.Y. ; Zhang, Xue

American journal of human genetics, 2009-06, Vol.84 (6), p.807-813 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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  1. Pan, T  (2)
  2. Marie, S  (2)
  3. Sudano, D  (2)
  4. Zhang, R  (2)
  5. Bonnemann, C  (2)
  6. Chu, M  (2)
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Deste Autor:

  1. Pan, T
  2. Marie, S
  3. Sudano, D
  4. Zhang, R
  5. Bonnemann, C

Neste Assunto:

  1. Genetics & Heredity
  2. Life Sciences & Biomedicine
  3. Science & Technology
  4. Humans
  5. Male

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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