skip to main content
Idioma:
Refinado por: assunto: Biology remover assunto: Genes remover assunto: Medicine remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism
Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism
Material Type:
Artigo 		Adicionar ao Meu Espaço

Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism

Scholl, Ute I ; Stölting, Gabriel ; Nelson-Williams, Carol ; Vichot, Alfred A ; Choi, Murim ; Loring, Erin ; Prasad, Manju L ; Goh, Gerald ; Carling, Tobias ; Juhlin, C Christofer ; Quack, Ivo ; Rump, Lars C ; Thiel, Anne ; Lande, Marc ; Frazier, Britney G ; Rasoulpour, Majid ; Bowlin, David L ; Sethna, Christine B ; Trachtman, Howard ; Fahlke, Christoph ; Lifton, Richard P

eLife, 2015-04, Vol.4, p.e06315-e06315 [Periódico revisado por pares]

England: eLife Sciences Publications Ltd

Texto completo disponível

Citações Citado por
2
Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles
Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles
Material Type:
Artigo 		Adicionar ao Meu Espaço

Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

Timberlake, Andrew T ; Choi, Jungmin ; Zaidi, Samir ; Lu, Qiongshi ; Nelson-Williams, Carol ; Brooks, Eric D ; Bilguvar, Kaya ; Tikhonova, Irina ; Mane, Shrikant ; Yang, Jenny F ; Sawh-Martinez, Rajendra ; Persing, Sarah ; Zellner, Elizabeth G ; Loring, Erin ; Chuang, Carolyn ; Galm, Amy ; Hashim, Peter W ; Steinbacher, Derek M ; DiLuna, Michael L ; Duncan, Charles C ; Pelphrey, Kevin A ; Zhao, Hongyu ; Persing, John A ; Lifton, Richard P

eLife, 2016-09, Vol.5 [Periódico revisado por pares]

England: eLife Sciences Publications Ltd

Texto completo disponível

Citações Citado por
3
Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families
Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families
Material Type:
Artigo 		Adicionar ao Meu Espaço

Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families

Cruchaga, Carlos ; Haller, Gabe ; Chakraverty, Sumitra ; Mayo, Kevin ; Vallania, Francesco L M ; Mitra, Robi D ; Faber, Kelley ; Williamson, Jennifer ; Bird, Tom ; Diaz-Arrastia, Ramon ; Foroud, Tatiana M ; Boeve, Bradley F ; Graff-Radford, Neill R ; St Jean, Pamela ; Lawson, Michael ; Ehm, Margaret G ; Mayeux, Richard ; Goate, Alison M Toft, Mathias

PloS one, 2012-02, Vol.7 (2), p.e31039-e31039 [Periódico revisado por pares]

United States: Public Library of Science

Texto completo disponível

Citações Citado por
4
New susceptibility loci associated with kidney disease in type 1 diabetes
New susceptibility loci associated with kidney disease in type 1 diabetes
Material Type:
Artigo 		Adicionar ao Meu Espaço

New susceptibility loci associated with kidney disease in type 1 diabetes

Sandholm, Niina ; Salem, Rany M ; McKnight, Amy Jayne ; Brennan, Eoin P ; Forsblom, Carol ; Isakova, Tamara ; McKay, Gareth J ; Williams, Winfred W ; Sadlier, Denise M ; Mäkinen, Ville-Petteri ; Swan, Elizabeth J ; Palmer, Cameron ; Boright, Andrew P ; Ahlqvist, Emma ; Deshmukh, Harshal A ; Keller, Benjamin J ; Huang, Huateng ; Ahola, Aila J ; Fagerholm, Emma ; Gordin, Daniel ; Harjutsalo, Valma ; He, Bing ; Heikkilä, Outi ; Hietala, Kustaa ; Kytö, Janne ; Lahermo, Päivi ; Lehto, Markku ; Lithovius, Raija ; Osterholm, Anne-May ; Parkkonen, Maija ; Pitkäniemi, Janne ; Rosengård-Bärlund, Milla ; Saraheimo, Markku ; Sarti, Cinzia ; Söderlund, Jenny ; Soro-Paavonen, Aino ; Syreeni, Anna ; Thorn, Lena M ; Tikkanen, Heikki ; Tolonen, Nina ; Tryggvason, Karl ; Tuomilehto, Jaakko ; Wadén, Johan ; Gill, Geoffrey V ; Prior, Sarah ; Guiducci, Candace ; Mirel, Daniel B ; Taylor, Andrew ; Hosseini, S Mohsen ; Parving, Hans-Henrik ; Rossing, Peter ; Tarnow, Lise ; Ladenvall, Claes ; Alhenc-Gelas, François ; Lefebvre, Pierre ; Rigalleau, Vincent ; Roussel, Ronan ; Tregouet, David-Alexandre ; Maestroni, Anna ; Maestroni, Silvia ; Falhammar, Henrik ; Gu, Tianwei ; Möllsten, Anna ; Cimponeriu, Danut ; Ioana, Mihai ; Mota, Maria ; Mota, Eugen ; Serafinceanu, Cristian ; Stavarachi, Monica ; Hanson, Robert L ; Nelson, Robert G ; Kretzler, Matthias ; Colhoun, Helen M ; Panduru, Nicolae Mircea ; Gu, Harvest F ; Brismar, Kerstin ; Zerbini, Gianpaolo ; Hadjadj, Samy ; Marre, Michel ; Groop, Leif ; Lajer, Maria ; Bull, Shelley B ; Waggott, Daryl ; Paterson, Andrew D ; Savage, David A ; Bain, Stephen C ; Martin, Finian ; Hirschhorn, Joel N ; Godson, Catherine ; Florez, Jose C ; Groop, Per-Henrik ; Maxwell, Alexander P Böger, Carsten A.

PLoS genetics, 2012-09, Vol.8 (9), p.e1002921-e1002921 [Periódico revisado por pares]

United States: Public Library of Science

Texto completo disponível

Citações Citado por
5
Copy number variation in familial Parkinson disease
Copy number variation in familial Parkinson disease
Material Type:
Artigo 		Adicionar ao Meu Espaço

Copy number variation in familial Parkinson disease

Pankratz, Nathan ; Dumitriu, Alexandra ; Hetrick, Kurt N ; Sun, Mei ; Latourelle, Jeanne C ; Wilk, Jemma B ; Halter, Cheryl ; Doheny, Kimberly F ; Gusella, James F ; Nichols, William C ; Myers, Richard H ; Foroud, Tatiana ; DeStefano, Anita L Roberts, Roland G.

PloS one, 2011-08, Vol.6 (8), p.e20988-e20988 [Periódico revisado por pares]

United States: Public Library of Science

Texto completo disponível

Citações Citado por
6
MCP1 SNPs and pulmonary tuberculosis in cohorts from West Africa, the USA and Argentina: lack of association or epistasis with IL12B polymorphisms
MCP1 SNPs and pulmonary tuberculosis in cohorts from West Africa, the USA and Argentina: lack of association or epistasis with IL12B polymorphisms
Material Type:
Artigo 		Adicionar ao Meu Espaço

MCP1 SNPs and pulmonary tuberculosis in cohorts from West Africa, the USA and Argentina: lack of association or epistasis with IL12B polymorphisms

Velez Edwards, Digna R ; Tacconelli, Alessandra ; Wejse, Christian ; Hill, Philip C ; Morris, Gerard A J ; Edwards, Todd L ; Gilbert, John R ; Myers, Jamie L ; Park, Yo Son ; Stryjewski, Martin E ; Abbate, Eduardo ; Estevan, Rosa ; Rabna, Paulo ; Novelli, Giuseppe ; Hamilton, Carol D ; Adegbola, Richard ; Østergaar, Lars ; Williams, Scott M ; Scott, William K ; Sirugo, Giorgio Zealand, Pere-Joan

PloS one, 2012-02, Vol.7 (2), p.e32275-e32275 [Periódico revisado por pares]

United States: Public Library of Science

Texto completo disponível

Citações Citado por
7
Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections
Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections
Material Type:
Artigo 		Adicionar ao Meu Espaço

Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections

Kuang, Shao-Qing ; Guo, Dong-Chuan ; Prakash, Siddharth K ; McDonald, Merry-Lynn N ; Johnson, Ralph J ; Wang, Min ; Regalado, Ellen S ; Russell, Ludivine ; Cao, Jiu-Mei ; Kwartler, Callie ; Fraivillig, Kurt ; Coselli, Joseph S ; Safi, Hazim J ; Estrera, Anthony L ; Leal, Suzanne M ; LeMaire, Scott A ; Belmont, John W ; Milewicz, Dianna M Hakonarson, Hakon

PLoS genetics, 2011-06, Vol.7 (6), p.e1002118 [Periódico revisado por pares]

United States: Public Library of Science

Texto completo disponível

Citações Citado por
8
Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers
Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers
Material Type:
Artigo 		Adicionar ao Meu Espaço

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

Blanco, Ignacio ; Wang, Xianshu ; Barrowdale, Daniel ; de Garibay, Gorka Ruiz ; Librado, Pablo ; Sánchez-Gracia, Alejandro ; Bonifaci, Núria ; McGuffog, Lesley ; Berenguer, Antoni ; Català, Isabel ; Feliubadaló, Lidia ; Tornero, Eva ; Benítez, Javier ; Osorio, Ana ; Ramón y Cajal, Teresa ; Nevanlinna, Heli ; Aittomäki, Kristiina ; Lester, Jenny ; Greene, Mark H ; Andrulis, Irene L ; Domchek, Susan M ; Nathanson, Katherine L ; Lubinski, Jan ; Claes, Kathleen ; Caldés, Trinidad ; Cook, Margaret ; Pichert, Gabriella ; Chu, Carol ; Dorkins, Huw ; Teixeira, Manuel R ; Seynaeve, Caroline ; Ligtenberg, Marjolijn J L ; Wijnen, Juul T ; Rookus, Matti A ; Blok, Marinus J ; van den Ouweland, Ans M W ; Nerenstone, Stacy R ; Bae-Jump, Victoria L ; Ratner, Elena S ; Schmutzler, Rita K ; Wappenschmidt, Barbara ; Rhiem, Kerstin ; Meindl, Alfons ; Ditsch, Nina ; Arnold, Norbert ; Niederacher, Dieter ; Sutter, Christian ; Wang-Gohrke, Shan ; Steinemann, Doris ; Kast, Karin ; Varon-Mateeva, Raymonda ; Thomassen, Mads ; Foretova, Lenka ; Peterlongo, Paolo ; Bernard, Loris ; Peissel, Bernard ; Scuvera, Giulietta ; Manoukian, Siranoush ; Radice, Paolo ; Montagna, Marco ; Agata, Simona ; Maugard, Christine ; Fink-Retter, Anneliese ; Rappaport, Christine ; Pfeiler, Georg ; John, Esther M ; Miron, Alex ; Terry, Mary Beth ; Chung, Wendy K ; Daly, Mary B ; Janavicius, Ramunas ; van Rensburg, Elisabeth J ; Garber, Judy ; Olah, Edith ; Narod, Steven A ; Rennert, Gad ; Paluch, Shani Shimon ; Laitman, Yael ; Loman, Niklas ; Imyanitov, Evgeny N ; Hamann, Ute ; Spurdle, Amanda B ; Herzog, Josef ; Gorrini, Chiara ; Sayols, Sergi ; Heyn, Holger ; Barjhoux, Laure ; Fassy-Colcombet, Marion ; de Pauw, Antoine ; Ferrer, Sandra Fert ; Bignon, Yves-Jean ; Damiola, Francesca ; Mazoyer, Sylvie ; Sinilnikova, Olga M ; Robson, Mark ; Lee, Adam ; Lindor, Noralane ; Offit, Kenneth ; Antoniou, Antonis C ; Pujana, Miguel Angel Suzuki, Hiromu

PloS one, 2015-04, Vol.10 (4), p.e0120020 [Periódico revisado por pares]

United States: Public Library of Science

Texto completo disponível

Citações Citado por
9
Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility
Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility
Material Type:
Artigo 		Adicionar ao Meu Espaço

Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility

Zhao, Jian ; Wu, Hui ; Khosravi, Melanie ; Cui, Huijuan ; Qian, Xiaoxia ; Kelly, Jennifer A ; Kaufman, Kenneth M ; Langefeld, Carl D ; Williams, Adrienne H ; Comeau, Mary E ; Ziegler, Julie T ; Marion, Miranda C ; Adler, Adam ; Glenn, Stuart B ; Alarcón-Riquelme, Marta E ; Pons-Estel, Bernardo A ; Harley, John B ; Bae, Sang-Cheol ; Bang, So-Young ; Cho, Soo-Kyung ; Jacob, Chaim O ; Vyse, Timothy J ; Niewold, Timothy B ; Gaffney, Patrick M ; Moser, Kathy L ; Kimberly, Robert P ; Edberg, Jeffrey C ; Brown, Elizabeth E ; Alarcon, Graciela S ; Petri, Michelle A ; Ramsey-Goldman, Rosalind ; Vilá, Luis M ; Reveille, John D ; James, Judith A ; Gilkeson, Gary S ; Kamen, Diane L ; Freedman, Barry I ; Anaya, Juan-Manuel ; Merrill, Joan T ; Criswell, Lindsey A ; Scofield, R Hal ; Stevens, Anne M ; Guthridge, Joel M ; Chang, Deh-Ming ; Song, Yeong Wook ; Park, Ji Ah ; Lee, Eun Young ; Boackle, Susan A ; Grossman, Jennifer M ; Hahn, Bevra H ; Goodship, Timothy H J ; Cantor, Rita M ; Yu, Chack-Yung ; Shen, Nan ; Tsao, Betty P Georges, Michel

PLoS genetics, 2011-05, Vol.7 (5), p.e1002079 [Periódico revisado por pares]

United States: Public Library of Science

Texto completo disponível

Citações Citado por
10
Genome-wide association study of irritable vs. elated mania suggests genetic differences between clinical subtypes of bipolar disorder
Genome-wide association study of irritable vs. elated mania suggests genetic differences between clinical subtypes of bipolar disorder
Material Type:
Artigo 		Adicionar ao Meu Espaço

Genome-wide association study of irritable vs. elated mania suggests genetic differences between clinical subtypes of bipolar disorder

Greenwood, Tiffany A ; Kelsoe, John R Reif, Andreas

PloS one, 2013-01, Vol.8 (1), p.e53804-e53804 [Periódico revisado por pares]

United States: Public Library of Science

Texto completo disponível

Citações Citado por

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

Buscando em bases de dados remotas. Favor aguardar.