skip to main content
Idioma:
Refinado por: assunto: Genetics & Heredity remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis
Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis
Material Type:
Artigo 		Adicionar ao Meu Espaço

Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis

EMOND, Mary J ; LOUIE, Tin ; BARNES, Kathleen C ; GIBSON, Ronald L ; BAMSHAD, Michael J ; EMERSON, Julia ; WEI ZHAO ; MATHIAS, Rasika A ; KNOWLES, Michael R ; WRIGHT, Fred A ; RIEDER, Mark J ; TABOR, Holly K ; NICKERSON, Deborah A

Nature genetics, 2012-08, Vol.44 (8), p.886-889 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

Texto completo disponível

Citações Citado por
2
Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile
Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile
Material Type:
Artigo 		Adicionar ao Meu Espaço

Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile

Noronha, Renata M. ; Villares, Sandra M F ; Torres, Natalia ; Quedas, Elisangela P S ; Homma, Thais Kataoka ; Albuquerque, Edoarda V A ; Moraes, Michelle B ; Funari, Mariana F A ; Bertola, Debora R ; Jorge, Alexander A L ; Malaquias, Alexsandra C

American journal of medical genetics. Part A, 2021-03, Vol.185 (3), p.774-780 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

Texto completo disponível

Citações Citado por
3
Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients
Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients
Material Type:
Artigo 		Adicionar ao Meu Espaço

Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients

Freire, Bruna L. ; Homma, Thais K. ; Funari, Mariana F.A. ; Lerario, Antônio M. ; Leal, Aline M. ; Velloso, Elvira D.R.P. ; Malaquias, Alexsandra C. ; Jorge, Alexander A.L.

European journal of medical genetics, 2018-03, Vol.61 (3), p.130-133 [Periódico revisado por pares]

Netherlands: Elsevier Masson SAS

Texto completo disponível

Citações Citado por
4
Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients
Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients
Material Type:
Artigo 		Adicionar ao Meu Espaço

Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients

Villela, Thais R ; Freire, Bruna L ; Braga, Nathalia T P ; Arantes, Rodrigo R ; Funari, Mariana F A ; Alexander, Jorge A L ; Silva, Ivani N

Genetics and molecular biology, 2019-01, Vol.42 (4), p.e20180197-e20180197 [Periódico revisado por pares]

Brazil: Sociedade Brasileira de Genetica

Texto completo disponível

Citações Citado por
5
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

BOILEAU, Catherine ; GUO, Dong-Chuan ; BRAVERMAN, Alan C ; GRANDCHAMP, Bernard ; KWARTLER, Callie S ; GOUYA, Laurent ; SANTOS-CORTEZ, Regie Lyn P ; ABIFADEL, Marianne ; LEAL, Suzanne M ; MUTI, Christine ; SHENDURE, Jay ; GROSS, Marie-Sylvie ; HANNA, Nadine ; RIEDER, Mark J ; VAHANIAN, Alec ; NICKERSON, Deborah A ; MICHEL, Jean Baptiste ; JONDEAU, Guillaume ; MILEWICZ, Dianna M ; REGALADO, Ellen S ; DETAINT, Delphine ; LIMIN GONG ; VARRET, Mathilde ; PRAKASH, Siddharth K ; LI, Alexander H ; D'INDY, Hyacintha

Nature genetics, 2012-08, Vol.44 (8), p.916-921 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

Texto completo disponível

Citações Citado por
6
Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol
Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol
Material Type:
Artigo 		Adicionar ao Meu Espaço

Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol

Lange, Leslie A. ; Schmidt, Ellen M. ; Bizon, Chris ; Jun, Goo ; Auer, Paul ; Li, Kuo-ping ; Locke, Adam ; Rivas, Manuel A. ; Feitosa, Mary F. ; Zhang, Qunyuan ; Huffman, Jennifer E. ; Crosby, Jacy ; Robinson, Jennifer G. ; Crosslin, David R. ; Rosenthal, Elisabeth A. ; Tsai, Michael ; Rieder, Mark J. ; Fox, Ervin R. ; van Duijn, Cornelia M. ; Taylor, Herman A. ; Loos, Ruth J.F. ; Ballantyne, Christie M. ; Reiner, Alexander P. ; Cupples, L. Adrienne ; Kang, Hyun Min ; Lettre, Guillaume ; Rader, Daniel J. ; Reilly, Muredach P. ; Stoletzki, Nina ; Barr, R. Graham ; Benjamin, Emelia J. ; Carr, Jeff ; Dupuis, Josée ; Ellis, Jaclyn ; Fornage, Myriam ; Goff, David ; Grody, Wayne ; Heard-Costa, Nancy L. ; Levy, Daniel ; Li, Dalin ; Loria, Cay ; Mackey, Rachel ; Quinlan, Aaron R. ; Rice, Kenneth ; Sanders, Jill P. ; Tracy, Russell P. ; Tsai, Michael Y. ; Wassel, Chrstina L. ; Watson, Karol ; Wilson, Gregory ; Wilson, James G. ; Zakai, Neil A. ; Nalls, Michael ; Bamshad, Michael J. ; Accurso, Frank ; Beaty, Terri ; Caplan, Daniel ; Chidekel, Aaron ; Christiani, David C. ; De Paula, Alicia ; Gutierrez, Hector ; Hassoun, Paul M. ; Hiatt, Peter ; Hummer, Laura K. ; Kim, Yoonhee ; Lin, Xihong ; Louie, Tin L. ; Mathias, Rasika A. ; McNamara, John ; McNamara, Sharon ; Nielson, Dennis ; Orenstein, David ; O’Sullivan, Brian ; Passero, Mary Ann ; Perkett, Elizabeth ; Spencer, Terry ; Tabor, Holly K. ; Weiss, Robert ; Wigley, Fred ; Wise, Robert A. ; Wurfel, Mark M. ; Eichler, Evan E. ; Fu, Wenqing ; Smith, Joshua D. ; Tennessen, Jacob A. ; Peters, Ulrike ; Brzyski, Robert ; Curb, J. David ; Eaton, Charles B. ; Heiss, Gerardo ; Johnson, Karen C. ; Lasser, Norman ; Lin, Dan-Yu ; Logsdon, Benjamin A. ; Manson, JoAnn E. ; Martin, Lisa ; Stein, Evan ; Applebaum-Bowden, Deborah ; Paltoo, Dina N. ; Sturcke, Anne

American journal of human genetics, 2014-02, Vol.94 (2), p.233-245 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

Citações Citado por
7
Usefulness of MLPA in the detection of SHOX deletions
Usefulness of MLPA in the detection of SHOX deletions
Material Type:
Artigo 		Adicionar ao Meu Espaço

Usefulness of MLPA in the detection of SHOX deletions

Funari, Mariana F.A ; Jorge, Alexander A.L ; Souza, Silvia C.A.L ; Billerbeck, Ana E.C ; Arnhold, Ivo J.P ; Mendonca, Berenice B ; Nishi, Mirian Y

European journal of medical genetics, 2010-09, Vol.53 (5), p.234-238 [Periódico revisado por pares]

Netherlands: Elsevier Masson SAS

Texto completo disponível

Citações Citado por
8
Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset
Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset
Material Type:
Artigo 		Adicionar ao Meu Espaço

Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset

Gordon, Adam S ; Tabor, Holly K ; Johnson, Andrew D ; Snively, Beverly M ; Assimes, Themistocles L ; Auer, Paul L ; Ioannidis, John P A ; Peters, Ulrike ; Robinson, Jennifer G ; Sucheston, Lara E ; Wang, Danxin ; Sotoodehnia, Nona ; Rotter, Jerome I ; Psaty, Bruce M ; Jackson, Rebecca D ; Herrington, David M ; O'Donnell, Christopher J ; Reiner, Alexander P ; Rich, Stephen S ; Rieder, Mark J ; Bamshad, Michael J ; Nickerson, Deborah A

Human molecular genetics, 2014-04, Vol.23 (8), p.1957-1963 [Periódico revisado por pares]

England: Oxford University Press

Texto completo disponível

Citações Citado por
9
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Kim, Jung-Hyun ; Shinde, Deepali N. ; Reijnders, Margot R.F. ; Hauser, Natalie S. ; Belmonte, Rebecca L. ; Wilson, Gregory R. ; Bosch, Daniëlle G.M. ; Bubulya, Paula A. ; Shashi, Vandana ; Petrovski, Slavé ; Stone, Joshua K. ; Park, Eun Young ; Veltman, Joris A. ; Sinnema, Margje ; Stumpel, Connie T.R.M. ; Draaisma, Jos M. ; Nicolai, Joost ; Yntema, Helger G. ; Lindstrom, Kristin ; de Vries, Bert B.A. ; Jewett, Tamison ; Santoro, Stephanie L. ; Vogt, Julie ; Bachman, Kristine K. ; Seeley, Andrea H. ; Krokosky, Alyson ; Turner, Clesson ; Rohena, Luis ; Hempel, Maja ; Kortüm, Fanny ; Lessel, Davor ; Neu, Axel ; Strom, Tim M. ; Wieczorek, Dagmar ; Bramswig, Nuria ; Laccone, Franco A. ; Behunova, Jana ; Rehder, Helga ; Gordon, Christopher T. ; Rio, Marlène ; Romana, Serge ; Tang, Sha ; El-Khechen, Dima ; Cho, Megan T. ; McWalter, Kirsty ; Douglas, Ganka ; Baskin, Berivan ; Begtrup, Amber ; Funari, Tara ; Schoch, Kelly ; Stegmann, Alexander P.A. ; Stevens, Servi J.C. ; Zhang, Dong-Er ; Traver, David ; Yao, Xu ; MacArthur, Daniel G. ; Brunner, Han G. ; Mancini, Grazia M. ; Myers, Richard M. ; Owen, Laurie B. ; Lim, Ssang-Taek ; Stachura, David L. ; Vissers, Lisenka E.L.M. ; Ahn, Eun-Young Erin

American journal of human genetics, 2016-09, Vol.99 (3), p.711-719 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

Citações Citado por
10
Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene
Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene
Material Type:
Artigo 		Adicionar ao Meu Espaço

Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene

Tompson, Stuart W. ; Bacino, Carlos A. ; Safina, Nicole P. ; Bober, Michael B. ; Proud, Virginia K. ; Funari, Tara ; Wangler, Michael F. ; Nevarez, Lisette ; Ala-Kokko, Leena ; Wilcox, William R. ; Eyre, David R. ; Krakow, Deborah ; Cohn, Daniel H.

American journal of human genetics, 2010-11, Vol.87 (5), p.708-712 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

Texto completo disponível

Citações Citado por

Personalize Seus Resultados

  1. Editar

Refine Search Results

Expandir Meus Resultados

  1.   

Data de Publicação 

De até
Refinar
  1. Antes de2010  (1)
  2. 2010Até2011  (2)
  3. 2012Até2013  (2)
  4. 2014Até2016  (3)
  5. Após 2016  (5)
  6. Mais opções open sub menu

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

Buscando em bases de dados remotas. Favor aguardar.