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1
Truncation and pathogenic mutations facilitate the formation of intracellular aggregates of TDP-43
Truncation and pathogenic mutations facilitate the formation of intracellular aggregates of TDP-43
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Truncation and pathogenic mutations facilitate the formation of intracellular aggregates of TDP-43

Nonaka, Takashi ; Kametani, Fuyuki ; Arai, Tetsuaki ; Akiyama, Haruhiko ; Hasegawa, Masato

Human molecular genetics, 2009-09, Vol.18 (18), p.3353-3364 [Periódico revisado por pares]

Oxford: Oxford University Press

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2
Common missense mutation in the adhalin gene in three unrelated brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy
Common missense mutation in the adhalin gene in three unrelated brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy
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Common missense mutation in the adhalin gene in three unrelated brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy

Maria Rita Passos-Bueno E S Moreira; Mariz Vainzof; J Chamberlain; Suely Kazue Nagahashi Marie; L Pereira; J Akiyama; S L Roberds; K P Campbell; Mayana Zatz

Oxford v.4 , n.7 , p.1163-7, 1995 Human Molecular Genetics

Oxford 1995

Item não circula. Consulte sua biblioteca.(Acessar)

3
Common missense mutation in the adhalin gene in three unrelated brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy
Common missense mutation in the adhalin gene in three unrelated brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy
Material Type:
Artigo 		Adicionar ao Meu Espaço

Common missense mutation in the adhalin gene in three unrelated brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy

Maria Rita Passos-Bueno E S Moreira; M Vainzof; J Chamberlain; Suely Kazue Nagahashi Marie; L Pereira; J Akiyama; S L Roberds; K P Campbell; M Zatz

Oxford v.4 , n.7 , p.1163-7, 1995 Human Molecular Genetics

Oxford 1995

Item não circula. Consulte sua biblioteca.(Acessar)

4
Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease
Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease
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Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease

Kono, M. ; Sugiura, K. ; Suganuma, M. ; Hayashi, M. ; Takama, H. ; Suzuki, T. ; Matsunaga, K. ; Tomita, Y. ; Akiyama, M.

Human molecular genetics, 2013-09, Vol.22 (17), p.3524-3533 [Periódico revisado por pares]

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5
No evidence of genetic heterogeneity in brazilian facioscapulohumeral muscular dystrophy familes (fshd) with 4q markers
No evidence of genetic heterogeneity in brazilian facioscapulohumeral muscular dystrophy familes (fshd) with 4q markers
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No evidence of genetic heterogeneity in brazilian facioscapulohumeral muscular dystrophy familes (fshd) with 4q markers

Maria Rita Passos-Bueno C Wijmenga; R I Takata; Suely Kazue Nagahashi Marie; Mariz Vainzof; R C M Pavanello; J E Hewitt; E Bakker; A Carvalho; J Akiyama; R R Frants

Oxford v.2 , n.5 , p.557-62, 1993 Human Molecular Genetics

Oxford 1993

Item não circula. Consulte sua biblioteca.(Acessar)

6
Mutant activated FGFR3 impairs endochondral bone growth by preventing SOX9 downregulation in differentiating chondrocytes
Mutant activated FGFR3 impairs endochondral bone growth by preventing SOX9 downregulation in differentiating chondrocytes
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Mutant activated FGFR3 impairs endochondral bone growth by preventing SOX9 downregulation in differentiating chondrocytes

Zhou, Zi-Qiang ; Ota, Sara ; Deng, Chuxia ; Akiyama, Haruhiko ; Hurlin, Peter J

Human molecular genetics, 2015-03, Vol.24 (6), p.1764-1773 [Periódico revisado por pares]

England: Oxford University Press

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7
Wolfram syndrome 1 gene (was1) product localizes to secretory granules and determines granule acidification in pancreatic β-cells
Wolfram syndrome 1 gene (was1) product localizes to secretory granules and determines granule acidification in pancreatic β-cells
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Wolfram syndrome 1 gene (was1) product localizes to secretory granules and determines granule acidification in pancreatic β-cells

HATANAKA, Masayuki ; TANABE, Katsuya ; YANAI, Akie ; OHTA, Yasuharu ; KONDO, Manabu ; AKIYAMA, Masaru ; SHINODA, Koh ; OKA, Yoshitomo ; TANIZAWA, Yukio

Human molecular genetics, 2011-04, Vol.20 (7), p.1274-1284 [Periódico revisado por pares]

Oxford: Oxford University Press

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8
A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy
A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy
Material Type:
Artigo 		Adicionar ao Meu Espaço

A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy

Bueno, M.Rita Passos ; Moreira, Eloísa S. ; Vainzof, Mariz ; Chamberlain, Jeffrey ; Marle, Suely K. ; Pereira, Lygia ; Akiyama, Jeanne ; Roberds, Steven L. ; Campbell, Kevin P. ; Zatz, Mayana

Human molecular genetics, 1995-07, Vol.4 (7), p.1163-1167 [Periódico revisado por pares]

Oxford: Oxford University Press

Sem texto completo

Citações Citado por
9
No evidence of genetic heterogeneity in Brazilian facioscapulohumeral muscular dystrophy familes (FSHD) with 4q markers
No evidence of genetic heterogeneity in Brazilian facioscapulohumeral muscular dystrophy familes (FSHD) with 4q markers
Material Type:
Artigo 		Adicionar ao Meu Espaço

No evidence of genetic heterogeneity in Brazilian facioscapulohumeral muscular dystrophy familes (FSHD) with 4q markers

Passos-Bueno, M.Rita ; Wijmenga, Cisca ; Takata, Reinaldo E. ; Marie, Sueli K.N. ; Vainzof, Mariz ; Pavanello, Rita C. ; Hewitt, Jane E. ; Bakker, Egbert ; Carvalho, Alzira ; Akiyama, Jane ; Frants, Rune R. ; Zatz, Mayana

Human molecular genetics, 1993-05, Vol.2 (5), p.557-562 [Periódico revisado por pares]

Oxford: Oxford University Press

Sem texto completo

Citações Citado por
10
Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index
Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index
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Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index

Wen, Wanqing ; Zheng, Wei ; Okada, Yukinori ; Takeuchi, Fumihiko ; Tabara, Yasuharu ; Hwang, Joo-Yeon ; Dorajoo, Rajkumar ; Li, Huaixing ; Tsai, Fuu-Jen ; Yang, Xiaobo ; He, Jiang ; Wu, Ying ; He, Meian ; Zhang, Yi ; Liang, Jun ; Guo, Xiuqing ; Sheu, Wayne Huey-Herng ; Delahanty, Ryan ; Guo, Xingyi ; Kubo, Michiaki ; Yamamoto, Ken ; Ohkubo, Takayoshi ; Go, Min Jin ; Liu, Jian Jun ; Chen, Ching-Chu ; Gao, Yong ; Li, Shengxu ; Lee, Nanette R ; Wu, Chen ; Zhou, Xueya ; Song, Huaidong ; Yao, Jie ; Lee, I-Te ; Long, Jirong ; Tsunoda, Tatsuhiko ; Akiyama, Koichi ; Takashima, Naoyuki ; Cho, Yoon Shin ; Ong, Rick Th ; Lu, Ling ; Chen, Chien-Hsiun ; Tan, Aihua ; Adair, Linda S ; Gui, Lixuan ; Allison, Matthew ; Lee, Wen-Jane ; Cai, Qiuyin ; Umemura, Satoshi ; Kim, Young Jin ; Seielstad, Mark ; Hixson, James ; Xiang, Yong-Bing ; Isono, Masato ; Kim, Bong-Jo ; Sim, Xueling ; Lu, Wei ; Nabika, Toru ; Lee, Juyoung ; Gao, Yu-Tang ; Takayanagi, Ryoichi ; Kang, Dae-Hee ; Wong, Tien Yin ; Hsiung, Chao Agnes ; Wu, I-Chien ; Juang, Jyh-Ming Jimmy ; Shi, Jiajun ; Choi, Bo Youl ; Aung, Tin ; Hu, Frank ; Kim, Mi Kyung ; Lim, Wei Yen ; Wang, Tzung-Dao ; Shin, Min-Ho ; Lee, Jeannette ; Ji, Bu-Tian ; Lee, Young-Hoon ; Young, Terri L ; Shin, Dong Hoon ; Cho, Myeong-Chan ; Hwu, Chii-Min ; Absher, Devin ; Kim, Eric ; Kuo, Jane Z ; Kwon, Soonil ; Taylor, Kent D ; Rotter, Jerome I ; Qi, Lu ; Zhu, Dingliang ; Wu, Tangchun ; Mohlke, Karen L ; Gu, Dongfeng ; Mo, Zengnan ; Wu, Jer-Yuarn ; Lin, Xu ; Miki, Tetsuro ; Tai, E Shyong ; Lee, Jong-Young ; Kato, Norihiro ; Shu, Xiao-Ou ; Tanaka, Toshihiro

Human molecular genetics, 2014-10, Vol.23 (20), p.5492-5504 [Periódico revisado por pares]

England: Oxford University Press

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Deste Autor:

  1. Vainzof, M
  2. Marie, S
  3. Passos-Bueno, M
  4. Akiyama, J
  5. Moreira, E

Neste Assunto:

  1. Genetics & Heredity
  2. Biochemistry & Molecular Biology
  3. Life Sciences & Biomedicine
  4. Science & Technology
  5. Humans

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

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