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1-Alkyl-2-acetylglycerophosphocholine Esterase
Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks., Peloso, Gina M., Auer Paul L., Bis Joshua C., Voorman Arend, Morrison Alanna C., Stitziel Nathan O., Brody Jennifer A., Khetarpal Sumeet A., Crosby Jacy R., Fornage Myriam, et al. , American journal of human genetics, 2014 Feb 6, Volume 94, Issue 2, p.223-32, (2014) Abstract
2',5'-Oligoadenylate Synthetase
Single nucleotide polymorphisms in genes for 2'-5'-oligoadenylate synthetase and RNase L inpatients hospitalized with West Nile virus infection., Yakub, Imtiaz, Lillibridge Kristy M., Moran Ana, Gonzalez Omar Y., Belmont John, Gibbs Richard A., and Tweardy David J. , The Journal of infectious diseases, 2005 Nov 15, Volume 192, Issue 10, p.1741-8, (2005) Abstract
3' Flanking Region
Haplotype structure, LD blocks, and uneven recombination within the LRP5 gene., Twells, Rebecca C. J., Mein Charles A., Phillips Michael S., Hess Fred J., Veijola Riitta, Gilbey Matthew, Bright Matthew, Metzker Michael, Lie Benedicte A., Kingsnorth Amanda, et al. , Genome research, 2003 May, Volume 13, Issue 5, p.845-55, (2003) Abstract
3' Untranslated Regions
Integrated analyses of microRNAs demonstrate their widespread influence on gene expression in high-grade serous ovarian carcinoma., Creighton, Chad J., Hernandez-Herrera Anadulce, Jacobsen Anders, Levine Douglas A., Mankoo Parminder, Schultz Nikolaus, Du Ying, Zhang Yiqun, Larsson Erik, Sheridan Robert, et al. , PloS one, 2012, Volume 7, Issue 3, p.e34546, (2012) Abstract
3T3 Cells
Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome., Wang, Lisa L., Worley Kim, Gannavarapu Anu, Chintagumpala Murali M., Levy Moise L., and Plon Sharon E. , American journal of human genetics, 2002 Jul, Volume 71, Issue 1, p.165-7, (2002) Abstract
Isolation and characterization of the platelet-derived growth factor beta receptor promoter., Shinbrot, E., Liao X., and Williams L. T. , Developmental dynamics : an official publication of the American Association of Anatomists, 1997 Feb, Volume 208, Issue 2, p.211-9, (1997) Abstract
5' Flanking Region
Haplotype structure, LD blocks, and uneven recombination within the LRP5 gene., Twells, Rebecca C. J., Mein Charles A., Phillips Michael S., Hess Fred J., Veijola Riitta, Gilbey Matthew, Bright Matthew, Metzker Michael, Lie Benedicte A., Kingsnorth Amanda, et al. , Genome research, 2003 May, Volume 13, Issue 5, p.845-55, (2003) Abstract
5' Untranslated Regions
The DNA sequence and analysis of human chromosome 14., Heilig, Roland, Eckenberg Ralph, Petit Jean-Louis, Fonknechten Núria, Da Silva Corinne, Cattolico Laurence, Levy Michaël, Barbe Valérie, de Berardinis Véronique, Ureta-Vidal Abel, et al. , Nature, 2003 Feb 6, Volume 421, Issue 6923, p.601-7, (2003) Abstract
Abdominal Pain
Gastrointestinal microbiome signatures of pediatric patients with irritable bowel syndrome., Saulnier, Delphine M., Riehle Kevin, Mistretta Toni-Ann, Diaz Maria-Alejandra, Mandal Debasmita, Raza Sabeen, Weidler Erica M., Qin Xiang, Coarfa Cristian, Milosavljevic Aleksandar, et al. , Gastroenterology, 2011 Nov, Volume 141, Issue 5, p.1782-91, (2011) Abstract
Abnormalities, Multiple
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome., Campeau, Philippe M., Kim Jaeseung C., Lu James T., Schwartzentruber Jeremy A., Abdul-Rahman Omar A., Schlaubitz Silke, Murdock David M., Jiang Ming-Ming, Lammer Edward J., Enns Gregory M., et al. , American journal of human genetics, 2012 Feb 10, Volume 90, Issue 2, p.282-9, (2012) Abstract
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome., Lalani, Seema R., Zhang Jing, Schaaf Christian P., Brown Chester W., Magoulas Pilar, Tsai Anne Chun-Hui, El-Gharbawy Areeg, Wierenga Klaas J., Bartholomew Dennis, Fong Chin-To, et al. , American journal of human genetics, 2014 Nov 6, Volume 95, Issue 5, p.579-83, (2014) Abstract
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation., Lalani, Seema R., Safiullah Arsalan M., Fernbach Susan D., Harutyunyan Karine G., Thaller Christina, Peterson Leif E., McPherson John D., Gibbs Richard A., White Lisa D., Hefner Margaret, et al. , American journal of human genetics, 2006 Feb, Volume 78, Issue 2, p.303-14, (2006) Abstract
Mutations in KCTD1 cause scalp-ear-nipple syndrome., Marneros, Alexander G., Beck Anita E., Turner Emily H., McMillin Margaret J., Edwards Matthew J., Field Michael, de Macena Sobreira Nara Lygia, Perez Ana Beatriz A., Fortes Jose A. R., Lampe Anne K., et al. , American journal of human genetics, 2013 Apr 4, Volume 92, Issue 4, p.621-6, (2013) Abstract
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms., Campeau, Philippe M., Lu James T., Dawson Brian C., Fokkema Ivo F. A. C., Robertson Stephen P., Gibbs Richard A., and Lee Brendan H. , Human mutation, 2012 Nov, Volume 33, Issue 11, p.1520-5, (2012) Abstract
ABO Blood-Group System
Large-scale genomic studies reveal central role of ABO in sP-selectin and sICAM-1 levels., Barbalic, Maja, Dupuis Josée, Dehghan Abbas, Bis Joshua C., Hoogeveen Ron C., Schnabel Renate B., Nambi Vijay, Bretler Monique, Smith Nicholas L., Peters Annette, et al. , Human molecular genetics, 2010 May 1, Volume 19, Issue 9, p.1863-72, (2010) Abstract
Academies and Institutes
The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions., Bamshad, Michael J., Shendure Jay A., Valle David, Hamosh Ada, Lupski James R., Gibbs Richard A., Boerwinkle Eric, Lifton Richard P., Gerstein Mark, Gunel Murat, et al. , American journal of medical genetics. Part A, 2012 Jul, Volume 158A, Issue 7, p.1523-5, (2012) Abstract
Access to Information
Prepublication data sharing., Birney, Ewan, Hudson Thomas J., Green Eric D., Gunter Chris, Eddy Sean, Rogers Jane, Harris Jennifer R., Ehrlich Dusko S., Apweiler Rolf, Austin Christopher P., et al. , Nature, 2009 Sep 10, Volume 461, Issue 7261, p.168-70, (2009) Abstract
Enhancer and promoter elements directing activation and glucocorticoid repression of the alpha 1-fetoprotein gene in hepatocytes., Guertin, M., LaRue H., Bernier D., Wrange O., Chevrette M., Gingras M. C., and Bélanger L. , Molecular and cellular biology, 1988 Apr, Volume 8, Issue 4, p.1398-407, (1988) Abstract
Acquired Immunodeficiency Syndrome
Conservation of virally encoded microRNAs in Kaposi sarcoma--associated herpesvirus in primary effusion lymphoma cell lines and in patients with Kaposi sarcoma or multicentric Castleman disease., Marshall, Vickie, Parks Thomas, Bagni Rachel, Wang Cheng Dian, Samols Mark A., Hu Jianhong, Wyvil Kathleen M., Aleman Karen, Little Richard F., Yarchoan Robert, et al. , The Journal of infectious diseases, 2007 Mar 1, Volume 195, Issue 5, p.645-59, (2007) Abstract
Actinobacillus pleuropneumoniae
The genome sequence of Mannheimia haemolytica A1: insights into virulence, natural competence, and Pasteurellaceae phylogeny., Gioia, Jason, Qin Xiang, Jiang Huaiyang, Clinkenbeard Kenneth, Lo Reggie, Liu Yamei, Fox George E., Yerrapragada Shailaja, McLeod Michael P., McNeill Thomas Z., et al. , Journal of bacteriology, 2006 Oct, Volume 188, Issue 20, p.7257-66, (2006) Abstract
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease., Guo, Dong-Chuan, Papke Christina L., Tran-Fadulu Van, Regalado Ellen S., Avidan Nili, Johnson Ralph Jay, Kim Dong H., Pannu Hariyadarshi, Willing Marcia C., Sparks Elizabeth, et al. , American journal of human genetics, 2009 May, Volume 84, Issue 5, p.617-27, (2009) Abstract
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections., Guo, Dong-Chuan, Pannu Hariyadarshi, Tran-Fadulu Van, Papke Christina L., Yu Robert K., Avidan Nili, Bourgeois Scott, Estrera Anthony L., Safi Hazim J., Sparks Elizabeth, et al. , Nature genetics, 2007 Dec, Volume 39, Issue 12, p.1488-93, (2007) Abstract
Acute Disease
From vulnerable plaque to vulnerable patient: a call for new definitions and risk assessment strategies: Part I., Naghavi, Morteza, Libby Peter, Falk Erling, Casscells Ward S., Litovsky Silvio, Rumberger John, Badimon Juan Jose, Stefanadis Christodoulos, Moreno Pedro, Pasterkamp Gerard, et al. , Circulation, 2003 Oct 7, Volume 108, Issue 14, p.1664-72, (2003) Abstract
CFFM4: a new member of the CD20/FcepsilonRIbeta family., Gingras, M. C., Lapillonne H., and Margolin J. F. , Immunogenetics, 2001 Aug, Volume 53, Issue 6, p.468-76, (2001) Abstract
Single nucleotide polymorphism (SNP) analysis of mouse quantitative trait loci for identification of candidate genes., Yan, Y., Wang M., Lemon W. J., and You M. , Journal of medical genetics, 2004 Sep, Volume 41, Issue 9, p.e111, (2004)

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