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Refinado por: Nome da Publicação: Plos Genetics remover tipo de recurso: Artigos remover
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1
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice
Material Type:
Artigo 		Adicionar ao Meu Espaço

Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice

Lisenka E. L. M. Vissers Timothy C Cox; A. Murat Maga; Kieran M Short; Fenny Wiradjaja; Irene M Janssen; Fernanda Sarquis Jehee; Débora Romeo Bertola; Jia Liu; Garima Yagnik; Kiyotoshi Sekiguchi; Daiji Kiyozumi; Hans van Bokhoven; Carlo Marcelis; Michael Cunningham; Peter J Anderson; Simeon A Boyadjiev; Maria Rita Passos-Bueno; Joris A Veltman; Ian Smyth; Michael F Buckley; Tony Roscioli

PLoS Genetics San Francisco v. 7, n, 9, p. e1002278, sept. 2011

San Francisco 2011

Item não circula. Consulte sua biblioteca.(Acessar)

2
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice
Material Type:
Artigo 		Adicionar ao Meu Espaço

Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice

Lisenka E. L. M. Vissers Timothy C Cox; A. Murat Maga; Kieran M Short; Fenny Wiradjaja; Irene M Janssen; Fernanda Sarquis Jehee; Débora Romeo Bertola; Jia Liu; Garima Yagnik; Kiyotoshi Sekiguchi; Daiji Kiyozumi; Hans van Bokhoven; Carlo Marcelis; Michael Cunningham; Peter J Anderson; Simeon A Boyadjiev; Maria Rita Passos-Bueno; Joris A Veltman; Ian Smyth; Michael F Buckley; Tony Roscioli

PLoS Genetics San Francisco v. 7, n, 9, p. e1002278, sept. 2011

San Francisco 2011

Item não circula. Consulte sua biblioteca.(Acessar)

3
Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture
Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture
Material Type:
Artigo 		Adicionar ao Meu Espaço

Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture

Lea K. Davis Dongomei Yu; Clare L Keenan; Eric R Gamazon; Anuar I Konkashbaev; Eske M Derks; Benjamin M Neale; Jian Yang; S. Hong Lee; Patrick Evans; Cathy L Barr; Laura Bellodi; Fortu Benarroch; Gabriel Bedova Berrio; Oscar J Bienvenu; Michael H Bloch; Rianne M Blom; Ruth D Bruun; Cathy L Budman; Beatriz Camarena; Desmond Campbell; Carolina Cappi; Julio C. Cardona Salgado; Danielle C Cath; Maria C Cavallini; Denise A Chavira; Sylvain Chouinard; David V Conti; Edwin H Cook; Vladimir Coric; Bernadette A Cullen; Dieter Deforce; Richard Delorne; Yves Dion; Christopher K Edlund; Karin Egberts; Peter Falkai; Thomas V Fernandez; Patience J Gallagher; Helena Garrido; Daniel Geller; Simon L Girard; Hans J Grabe; Marco A Grados; Benjamin D Greenberg; Varda Gross Tsur; Stephen Haddad; Gary A Heiman; Sian M. J Hemmings; Ana G Hounie; Cornelia Illmann; Joseph Jankovic; Michael A Jenike; Robert A King; Barbara Kremeyer; Roger Kurlan; Nuria Lanzagorta; Marion Leboyer; James F Leckman; Leonhard Lennerts; Chunyu Liu; Christine Lochner; Thomas L Lowe; Fabio Macciardi; James T McCracken; Lauren MacGrant; Sandra C. Mesa Restrepo; Rainald Moessner; Jubel Morgan; Heike Muller; Dennis L Murphy; Allan L Naarden; William Cornejo Ochoa; Roel A Ophoff; Lisa Osieck; Andrew J Pakstis; Michele T Pato; Carlos N Pato; John Piacentini; Christopher Pittenger; Yehuda Pollak; Scott L Rauch; Tobias J Renner; Victor I Reus; Mark A Riddle; Mary M Robertson; Roxana Romero; Maria C Rosàrio; David Rosenberg; Guy A Rouleau; Stephan Ruhrmann; Andres Ruiz Linares; Aline S Sampaio; Jack Samuels; Paul Sandor; Brooke Sheppard; Harvey S Singer; Jan H Smit; Dan J Stein; E Strengman; Jay A Tischfield; Ana V. Valencia Duarte; Homero Pinto Vallada Filho; Filip Van Nieuwerburgh; Jeremy Veenstra VanderWeele; Susanne Walitza; Ying Wang; Jens R Wendland; Herman G. M Westenberg; Yin Yao Shugart; Eurípedes Constantino Miguel; William McMahon; Michael Wagner; Humberto Nicolini; Danielle Posthuma; Gregory L Hanna; Peter Heutink; Damiaan Denys; Paul D Arnold; Ben A Oostra; Gerald Nestadt; Nelson B Freimer; David L Pauls; Naomi R Wray; S. Evelyn Stewart; Carol A Mathews; James A Knowles; Nancy J Cox; Jeremiah M Scharf

Plos genetics San Francisco v. 9, n. 10, p. e1003864, 2013

San Francisco 2013

Localização: FM - Fac. Medicina    (BCSEP 483 2013 )(Acessar)

4
Discovery and functional annotation of SIX6 variants in primary open-angle glaucoma
Discovery and functional annotation of SIX6 variants in primary open-angle glaucoma
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Artigo 		Adicionar ao Meu Espaço

Discovery and functional annotation of SIX6 variants in primary open-angle glaucoma

Carnes, Megan Ulmer ; Liu, Yangfan P ; Allingham, R Rand ; Whigham, Benjamin T ; Havens, Shane ; Garrett, Melanie E ; Qiao, Chunyan ; Katsanis, Nicholas ; Wiggs, Janey L ; Pasquale, Louis R ; Ashley-Koch, Allison ; Oh, Edwin C ; Hauser, Michael A Gibson, Greg

PLoS genetics, 2014-05, Vol.10 (5), p.e1004372-e1004372 [Periódico revisado por pares]

United States: Public Library of Science

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5
The chromatin remodeling protein CHD-1 and the EFL-1/DPL-1 transcription factor cooperatively down regulate CDK-2 to control SAS-6 levels and centriole number
The chromatin remodeling protein CHD-1 and the EFL-1/DPL-1 transcription factor cooperatively down regulate CDK-2 to control SAS-6 levels and centriole number
Material Type:
Artigo 		Adicionar ao Meu Espaço

The chromatin remodeling protein CHD-1 and the EFL-1/DPL-1 transcription factor cooperatively down regulate CDK-2 to control SAS-6 levels and centriole number

Iyer, Jyoti ; Gentry, Lindsey K ; Bergwell, Mary ; Smith, Amy ; Guagliardo, Sarah ; Kropp, Peter A ; Sankaralingam, Prabhu ; Liu, Yan ; Spooner, Eric ; Bowerman, Bruce ; O'Connell, Kevin F Nance, Jeremy

PLoS genetics, 2022-04, Vol.18 (4), p.e1009799-e1009799 [Periódico revisado por pares]

United States: Public Library of Science

Texto completo disponível

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6
Discovery and Functional Annotation of SIX6 Variants in Primary Open-Angle Glaucoma: e1004372
Discovery and Functional Annotation of SIX6 Variants in Primary Open-Angle Glaucoma: e1004372
Material Type:
Artigo 		Adicionar ao Meu Espaço

Discovery and Functional Annotation of SIX6 Variants in Primary Open-Angle Glaucoma: e1004372

Carnes, Megan Ulmer ; Liu, Yangfan P ; Allingham, R Rand ; Whigham, Benjamin T ; Havens, Shane ; Garrett, Melanie E ; Qiao, Chunyan ; Katsanis, Nicholas ; Wiggs, Janey L ; Pasquale, Louis R ; Ashley-Koch, Allison ; Oh, Edwin C ; Hauser, Michael A ; Investigators, NEIGHBORHOOD Consortium

PLoS genetics, 2014-05, Vol.10 (5) [Periódico revisado por pares]

San Francisco: Public Library of Science

Texto completo disponível

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7
Discovery and Functional Annotation of SIX6 Variants in Primary Open-Angle Glaucoma
Discovery and Functional Annotation of SIX6 Variants in Primary Open-Angle Glaucoma
Material Type:
Artigo 		Adicionar ao Meu Espaço

Discovery and Functional Annotation of SIX6 Variants in Primary Open-Angle Glaucoma

Ulmer Carnes, Megan ; Liu, Yangfan P ; Allingham, R Rand ; Whigham, Benjamin T ; Havens, Shane ; Garrett, Melanie E ; Qiao, Chunyan ; Katsanis, Nicholas ; Wiggs, Janey L ; Pasquale, Louis R ; Ashley-Koch, Allison ; Oh, Edwin C ; Hauser, Michael A

PLOS Genetics, 2014-01, Vol.10 (5)

eScholarship, University of California

Sem texto completo

Citações Citado por
8
The Prmt5-Vasa module is essential for spermatogenesis in Bombyx mori
The Prmt5-Vasa module is essential for spermatogenesis in Bombyx mori
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The Prmt5-Vasa module is essential for spermatogenesis in Bombyx mori

Yang, Xu ; Chen, Dongbin ; Zheng, Shirui ; Yi, Meiyan ; Wang, Shanshan ; Liu, Yongjian ; Jing, Lianyan ; Liu, Zulian ; Yang, Dehong ; Liu, Yujia ; Tang, Linmeng ; Walters, James R ; Huang, Yongping Copenhaver, Gregory P.

PLoS genetics, 2023-01, Vol.19 (1), p.e1010600-e1010600 [Periódico revisado por pares]

United States: Public Library of Science

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9
MDRL lncRNA regulates the processing of miR-484 primary transcript by targeting miR-361
MDRL lncRNA regulates the processing of miR-484 primary transcript by targeting miR-361
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MDRL lncRNA regulates the processing of miR-484 primary transcript by targeting miR-361

Wang, Kun ; Sun, Teng ; Li, Na ; Wang, Yin ; Wang, Jian-Xun ; Zhou, Lu-Yu ; Long, Bo ; Liu, Cui-Yun ; Liu, Fang ; Li, Pei-Feng Copenhaver, Gregory P.

PLoS genetics, 2014-07, Vol.10 (7), p.e1004467-e1004467 [Periódico revisado por pares]

United States: Public Library of Science

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10
The entry of unclosed autophagosomes into vacuoles and its physiological relevance
The entry of unclosed autophagosomes into vacuoles and its physiological relevance
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The entry of unclosed autophagosomes into vacuoles and its physiological relevance

Wu, Zulin ; Xu, Haiqian ; Wang, Pei ; Liu, Ling ; Cai, Juan ; Chen, Yun ; Zhao, Xiaomin ; You, Xia ; Liu, Junze ; Guo, Xiangrui ; Xie, Tingting ; Feng, Jiajie ; Zhou, Fan ; Li, Rui ; Xie, Zhiping ; Xue, Yanhong ; Fu, Chuanhai ; Liang, Yongheng Copenhaver, Gregory P.

PLoS genetics, 2022-10, Vol.18 (10), p.e1010431-e1010431 [Periódico revisado por pares]

San Francisco: Public Library of Science

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Deste Autor:

  1. Kiyozumi, D
  2. Sekiguchi, K
  3. Cox, T
  4. Wiradjaja, F
  5. Bokhoven, H

Neste Assunto:

  1. Genetics & Heredity
  2. Life Sciences & Biomedicine
  3. Science & Technology
  4. Genetics
  5. Genetic Aspects

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

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