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Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools
Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools
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Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools

Ding, Jun ; Sidore, Carlo ; Butler, Thomas J ; Wing, Mary Kate ; Qian, Yong ; Meirelles, Osorio ; Busonero, Fabio ; Tsoi, Lam C ; Maschio, Andrea ; Angius, Andrea ; Kang, Hyun Min ; Nagaraja, Ramaiah ; Cucca, Francesco ; Abecasis, Gonçalo R ; Schlessinger, David Gibson, Greg

PLoS genetics, 2015-07, Vol.11 (7), p.e1005306-e1005306 [Periódico revisado por pares]

United States: Public Library of Science

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2
DNA polymorphisms at the BCL11A, HBS1L-MYB, and β-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease
DNA polymorphisms at the BCL11A, HBS1L-MYB, and β-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease
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DNA polymorphisms at the BCL11A, HBS1L-MYB, and β-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease

Lettre, Guillaume ; Sankaran, Vijay G ; Bezerra, Marcos André C ; Araújo, Aderson S ; Uda, Manuela ; Sanna, Serena ; Cao, Antonio ; Schlessinger, David ; Costa, Fernando F ; Hirschhorn, Joel N ; Orkin, Stuart H

Proceedings of the National Academy of Sciences - PNAS, 2008-08, Vol.105 (33), p.11869-11874 [Periódico revisado por pares]

United States: National Academy of Sciences

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3
Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits
Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits
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Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits

Scuteri, Angelo ; Sanna, Serena ; Chen, Wei-Min ; Uda, Manuela ; Albai, Giuseppe ; Strait, James ; Najjar, Samer ; Nagaraja, Ramaiah ; Orrú, Marco ; Usala, Gianluca ; Dei, Mariano ; Lai, Sandra ; Maschio, Andrea ; Busonero, Fabio ; Mulas, Antonella ; Ehret, Georg B ; Fink, Ashley A ; Weder, Alan B ; Cooper, Richard S ; Galan, Pilar ; Chakravarti, Aravinda ; Schlessinger, David ; Cao, Antonio ; Lakatta, Edward ; Abecasis, Gonçalo R Barsh, Greg

PLoS genetics, 2007-07, Vol.3 (7), p.e115-e115 [Periódico revisado por pares]

United States: Public Library of Science

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4
Genetic Variation among Pharmacogenes in the Sardinian Population
Genetic Variation among Pharmacogenes in the Sardinian Population
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Genetic Variation among Pharmacogenes in the Sardinian Population

Idda, Maria Laura ; Zoledziewska, Magdalena ; Urru, Silvana Anna Maria ; McInnes, Gregory ; Bilotta, Alice ; Nuvoli, Viola ; Lodde, Valeria ; Orrù, Sandro ; Schlessinger, David ; Cucca, Francesco ; Floris, Matteo

International journal of molecular sciences, 2022-09, Vol.23 (17), p.10058 [Periódico revisado por pares]

Basel: MDPI AG

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5
The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts
The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts
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The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts

Li, Siguang ; Sanna, Serena ; Maschio, Andrea ; Busonero, Fabio ; Usala, Gianluca ; Mulas, Antonella ; Lai, Sandra ; Dei, Mariano ; Orrù, Marco ; Albai, Giuseppe ; Bandinelli, Stefania ; Schlessinger, David ; Lakatta, Edward ; Scuteri, Angelo ; Najjar, Samer S ; Guralnik, Jack ; Naitza, Silvia ; Crisponi, Laura ; Cao, Antonio ; Abecasis, Gonçalo ; Ferrucci, Luigi ; Uda, Manuela ; Chen, Wei-Min ; Nagaraja, Ramaiah Allison, David B

PLoS genetics, 2007-11, Vol.3 (11), p.e194-e194 [Periódico revisado por pares]

United States: Public Library of Science

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6
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
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The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

Marzella, Rosalia ; Uda, Manuela ; Rocchi, Mariano ; Loi, Angela ; Bonneau, Dominique ; Cao, Antonio ; Chiappe, Francesca ; Gasparini, Paolo ; Crisponi, Laura ; Deiana, Manila ; Schlessinger, David ; Porcu, Susanna ; Pilia, Giuseppe ; Nicolino, Marc ; Bisceglia, Luigi ; Amati, Patrizia ; Zelante, Leopoldo ; Nagaraja, Ramaiah ; Serafina Ristaldi, M ; Lienhardt-Roussie, Anne ; Nivelon, Annie ; Verloes, Alain

Nature genetics, 2001-02, Vol.27 (2), p.159-166 [Periódico revisado por pares]

London: Nature Publishing Group

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7
Peptidyl arginine deiminase 2 (Padi2) is expressed in Sertoli cells in a specific manner and regulated by SOX9 during testicular development
Peptidyl arginine deiminase 2 (Padi2) is expressed in Sertoli cells in a specific manner and regulated by SOX9 during testicular development
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Peptidyl arginine deiminase 2 (Padi2) is expressed in Sertoli cells in a specific manner and regulated by SOX9 during testicular development

Tsuji-Hosokawa, Atsumi ; Kashimada, Kenichi ; Kato, Tomoko ; Ogawa, Yuya ; Nomura, Risa ; Takasawa, Kei ; Lavery, Rowena ; Coschiera, Andrea ; Schlessinger, David ; Harley, Vincent R ; Takada, Shuji ; Morio, Tomohiro

Scientific reports, 2018-09, Vol.8 (1), p.13263-11, Article 13263 [Periódico revisado por pares]

England: Nature Publishing Group

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8
An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism
An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism
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An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism

Bowl, Michael R ; Nesbit, M Andrew ; Harding, Brian ; Levy, Elaine ; Jefferson, Andrew ; Volpi, Emanuela ; Rizzoti, Karine ; Lovell-Badge, Robin ; Schlessinger, David ; Whyte, Michael P ; Thakker, Rajesh V

The Journal of clinical investigation, 2005-10, Vol.115 (10), p.2822-2831 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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9
Chromatin properties of regulatory DNA probed by manipulation of transcription factors
Chromatin properties of regulatory DNA probed by manipulation of transcription factors
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Chromatin properties of regulatory DNA probed by manipulation of transcription factors

Sharov, Alexei A ; Nishiyama, Akira ; Qian, Yong ; Dudekula, Dawood B ; Longo, Dan L ; Schlessinger, David ; Ko, Minoru S H

Journal of computational biology, 2014-08, Vol.21 (8), p.569-577 [Periódico revisado por pares]

United States: Mary Ann Liebert, Inc

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10
The Tabby Phenotype is Caused by Mutation in a Mouse Homologue of the EDA Gene that Reveals Novel Mouse and Human Exons and Encodes a Protein (Ectodysplasin-A) with Collagenous Domains
The Tabby Phenotype is Caused by Mutation in a Mouse Homologue of the EDA Gene that Reveals Novel Mouse and Human Exons and Encodes a Protein (Ectodysplasin-A) with Collagenous Domains
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The Tabby Phenotype is Caused by Mutation in a Mouse Homologue of the EDA Gene that Reveals Novel Mouse and Human Exons and Encodes a Protein (Ectodysplasin-A) with Collagenous Domains

Srivastava, Anand K. ; Pispa, Johanna ; Hartung, Andrew J. ; Du, Yangzhu ; Ezer, Sini ; Jenks, Ted ; Shimada, Tokihiko ; Pekkanen, Maija ; Mikkola, Marja L. ; Minoru S. H. Ko ; Thesleff, Irma ; Kere, Juha ; Schlessinger, David

Proceedings of the National Academy of Sciences - PNAS, 1997-11, Vol.94 (24), p.13069-13074 [Periódico revisado por pares]

United States: National Academy of Sciences of the United States of America

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