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1
Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff Disease functional characterization of 9 novel sequence variants
Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff Disease functional characterization of 9 novel sequence variants
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Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff Disease functional characterization of 9 novel sequence variants

Stefania Zampieri Silvia Cattarossi; Ana Maria Oller Ramirez; Camillo Rosano; Charles Marques Lourenço; Nadia Passon; Isabella Moroni; Graziella Uziel; Antonella Pettinari; Franco Stanzial; Raquel Dodelson de Kremer; Nydia Beatriz Azar; Filiz Hazan; Mirella Filocamo; Bruno Bembi; Andrea Dardis

PLOS ONE San Francisco v. 7, n. 7, art. e41516, p. 1-10, 2012

San Francisco 2012

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 3046974 Acervo Digital )(Acessar)

2
Adaptation of Pseudomonas aeruginosa to the chronic phenotype by mutations in the algTmucABD operon in isolates from Brazilian cystic fibrosis patients
Adaptation of Pseudomonas aeruginosa to the chronic phenotype by mutations in the algTmucABD operon in isolates from Brazilian cystic fibrosis patients
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Adaptation of Pseudomonas aeruginosa to the chronic phenotype by mutations in the algTmucABD operon in isolates from Brazilian cystic fibrosis patients

Natália Candido Caçador Carolina Paulino da Costa Capizzani; Lídia Alice Gomes Monteiro Marin Torres; Renata Galetti; Oana Ciofu; Ana Lúcia da Costa Darini; Niels Høiby

PLOS ONE San Francisco v. 13, n. 11, art. e0208013, p. 1-11, 2018

San Francisco 2018

Localização: FCFRP - Fac. Ciên. Farm. Ribeirão Preto    (pcd 3041361 Acervo Digital )(Acessar)

3
Phylogenetic and antimicrobial resistance gene analysis of Salmonella Typhimurium strains isolated in Brazil by whole genome sequencing
Phylogenetic and antimicrobial resistance gene analysis of Salmonella Typhimurium strains isolated in Brazil by whole genome sequencing
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Phylogenetic and antimicrobial resistance gene analysis of Salmonella Typhimurium strains isolated in Brazil by whole genome sequencing

Fernanda de Almeida Amanda Aparecida Seribelli; Marta Inês Cazentini Medeiros; Dália dos Prazeres Rodrigues; Alessandro de MelloVarani; Yan Luo; Marc W Allard; Juliana Pfrimer Falcão

PLOS ONE San Francisco v. 13, n. 8, art. e0201882, p. 1-16, 2018

San Francisco 2018

Localização: FCFRP - Fac. Ciên. Farm. Ribeirão Preto    (pcd 3049177 Acervo Digital )(Acessar)

4
Correction: Association of SMAD4 mutation with patient demographics, tumor characteristics, and clinical outcomes in colorectal cancer
Correction: Association of SMAD4 mutation with patient demographics, tumor characteristics, and clinical outcomes in colorectal cancer
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Correction: Association of SMAD4 mutation with patient demographics, tumor characteristics, and clinical outcomes in colorectal cancer

PloS one, 2017-05, Vol.12 (5), p.e0178275-e0178275 [Periódico revisado por pares]

United States: Public Library of Science

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5
Correction: A Novel Quantitative Hemolytic Assay Coupled with Restriction Fragment Length Polymorphisms Analysis Enabled Early Diagnosis of Atypical Hemolytic Uremic Syndrome and Identified Unique Predisposing Mutations in Japan
Correction: A Novel Quantitative Hemolytic Assay Coupled with Restriction Fragment Length Polymorphisms Analysis Enabled Early Diagnosis of Atypical Hemolytic Uremic Syndrome and Identified Unique Predisposing Mutations in Japan
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Correction: A Novel Quantitative Hemolytic Assay Coupled with Restriction Fragment Length Polymorphisms Analysis Enabled Early Diagnosis of Atypical Hemolytic Uremic Syndrome and Identified Unique Predisposing Mutations in Japan

Yoshida, Yoko ; Miyata, Toshiyuki ; Matsumoto, Masanori ; Shirotani-Ikejima, Hiroko ; Uchida, Yumiko ; Ohyama, Yoshifumi ; Kokubo, Tetsuro ; Fujimura, Yoshihiro

PloS one, 2017-05, Vol.12 (5), p.e0178015-e0178015 [Periódico revisado por pares]

United States: Public Library of Science

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6
Correction: A Novel GJA8 Mutation (p.V44A) Causing Autosomal Dominant Congenital Cataract
Correction: A Novel GJA8 Mutation (p.V44A) Causing Autosomal Dominant Congenital Cataract
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Correction: A Novel GJA8 Mutation (p.V44A) Causing Autosomal Dominant Congenital Cataract

Zhu, Yanan ; Yu, Hao ; Wang, Wei ; Gong, Xiaohua ; Yao, Ke

PloS one, 2015-05, Vol.10 (5), p.e0125949-e0125949 [Periódico revisado por pares]

United States: Public Library of Science

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7
Correction: Species-Specific Codon Context Rules Unveil Non-Neutrality Effects of Synonymous Mutations
Correction: Species-Specific Codon Context Rules Unveil Non-Neutrality Effects of Synonymous Mutations
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Correction: Species-Specific Codon Context Rules Unveil Non-Neutrality Effects of Synonymous Mutations

Moura, Gabriela R ; Pinheiro, Miguel ; Freitas, Adelaide ; Oliveira, José L ; Frommlet, Jörg C ; Carreto, Laura ; Soares, Ana R ; Bezerra, Ana R ; Santos, Manuel A S

PloS one, 2015-12, Vol.10 (12), p.e0145593-e0145593 [Periódico revisado por pares]

United States: Public Library of Science

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8
Correction: Novel Compound Heterozygous Mutations in MYO7A Associated with Usher Syndrome 1 in a Chinese Family
Correction: Novel Compound Heterozygous Mutations in MYO7A Associated with Usher Syndrome 1 in a Chinese Family
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Correction: Novel Compound Heterozygous Mutations in MYO7A Associated with Usher Syndrome 1 in a Chinese Family

Gao, Xue ; Wang, Guo-Jian ; Yuan, Yong-Yi ; Xin, Feng ; Han, Ming-Yu ; Lu, Jing-Qiao ; Zhao, Hui ; Yu, Fei ; Xu, Jin-Cao ; Zhang, Mei-Guang ; Dong, Jiang ; Lin, Xi ; Dai, Pu

PloS one, 2015-10, Vol.10 (10), p.e0137883-e0137883 [Periódico revisado por pares]

United States: Public Library of Science

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9
Correction: Mutation rules and the evolution of sparseness and modularity in biological systems
Correction: Mutation rules and the evolution of sparseness and modularity in biological systems
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Correction: Mutation rules and the evolution of sparseness and modularity in biological systems

PloS one, 2015-03, Vol.10 (3), p.e0118129-e0118129 [Periódico revisado por pares]

United States: Public Library of Science

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10
Correction: Clinical significance of cerebral microbleeds locations in CADASIL with R544C NOTCH3 mutation
Correction: Clinical significance of cerebral microbleeds locations in CADASIL with R544C NOTCH3 mutation
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Correction: Clinical significance of cerebral microbleeds locations in CADASIL with R544C NOTCH3 mutation

Lee, Jung Seok ; Kang, Chul-hoo ; Park, Sukh Que ; Choi, H Alex ; Sim, Ki-Bum

PloS one, 2015-04, Vol.10 (4), p.e0125297-e0125297 [Periódico revisado por pares]

United States: Public Library of Science

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Deste Autor:

  1. Falcão, J
  2. Filocamo, M
  3. Almeida, F
  4. Allard, M
  5. Moroni, I

Neste Assunto:

  1. Science & Technology - Other Topics
  2. Science & Technology
  3. Multidisciplinary Sciences
  4. Mutation
  5. Humans

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

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