Works matching DE "HUMAN molecular genetics"

Results: 186

Generation of a functional humanized Delta-like ligand 4 transgenic mouse model.

Published in:

Transgenic Research, 2017, v. 26, n. 6, p. 791, doi. 10.1007/s11248-017-0040-3

By:

Wiseman, John;
Gregersson, Pernilla;
Johansson, Johan;
Magnell, Kerstin;
Pilataxi, Fernanda;
Morehouse, Chris;
Brohawn, Philip;
Holoweckyj, Nicholas;
Strout, Patrick;
Cho, Song

Publication type:

Article

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist.

Published in:

Eye (0950-222X), 2011, v. 25, n. 11, p. 1389, doi. 10.1038/eye.2011.201

By:

Snead, M P;
McNinch, A M;
Poulson, A V;
Bearcroft, P;
Silverman, B;
Gomersall, P;
Parfect, V;
Richards, A J

Publication type:

Article

Hunt Is on for Genes Linked to Childhood Diseases.

Published in:

JAMA: Journal of the American Medical Association, 2006, v. 296, n. 4, p. 381, doi. 10.1001/jama.296.4.381

By:

Hampton, Tracy

Publication type:

Article

The Incidentalome.

Published in:

JAMA: Journal of the American Medical Association, 2006, v. 296, n. 2, p. 212, doi. 10.1001/jama.296.2.212

By:

Kohane, Isaac S.;
Masys, Daniel R.;
Altman, Russ B.

Publication type:

Article

Physicians Apply Genome Research to Treating Critical Illness and Injury.

Published in:

JAMA: Journal of the American Medical Association, 2004, v. 291, n. 3, p. 287, doi. 10.1001/jama.291.3.287

By:

Hampton, Tracy

Publication type:

Article

Early Detection of Occult Thyroid Cancer Metastases in Small Cervical Lymph Node by Genetic Analy...

Published in:

Journal of Otolaryngology, 2000, v. 29, n. 5, p. 322

By:

Lee, Mary-Tze;
Lin, Shih-Yi;
Yang, Hong-Jyh;
Lee, Ting-I;
Lin, Hong-Da;
Tang, Kam-Tsun

Publication type:

Article

HMBS Mutations in Chinese Patients with Acute Intermittent Porphyria.

Published in:

Annals of Human Genetics, 2008, v. 72, n. 5, p. 683, doi. 10.1111/j.1469-1809.2008.00463.x

By:

Yang, C. -C.;
Kuo, H. -C.;
You, H. -L.;
Wang, J.;
Huang, C. -C.;
Liu, C. -Y.;
Lan, M. -Y.;
Stephenson, D. A.;
Lee, M. -J.

Publication type:

Article

New Horizons in Management of Dyslipidemia.

Published in:

JK Science, 2014, v. 16, n. 4, p. 188

By:

Gupta, Puneeta;
Malhotra, Pavan

Publication type:

Article

Nodule Formation and Desmoplasia in Medulloblastomas—Defining the Nodular/Desmoplastic Variant and Its Biological Behavior.

Published in:

Brain Pathology, 2007, v. 17, n. 2, p. 151, doi. 10.1111/j.1750-3639.2007.00058.x

By:

McManamy, Charles S.;
Pears, Jane;
Weston, Claire L.;
Hanzely, Zoltan;
Ironside, James W.;
Taylor, Roger E.;
Grundy, Richard G.;
Clifford, Steven C.;
Ellison, David W.

Publication type:

Article

Exploration of the Genetic Architecture of Idiopathic Generalized Epilepsies.

Published in:

Epilepsia (Series 4), 2006, v. 47, n. 10, p. 1682, doi. 10.1111/j.1528-1167.2006.00677.x

By:

Hempelmann, Anne;
Taylor, Kirsten P.;
Heils, Armin;
Lorenz, Susanne;
Prud'Homme, Jean-Francois;
Nabbout, Rima;
Dulac, Olivier;
Rudolf, Gabrielle;
Zara, Federico;
Bianchi, Amedeo;
Robinson, Robert;
Gardiner, R. Mark;
Covanis, Athanasios;
Lindhout, Dick;
Stephani, Ulrich;
Elger, Christian E.;
Weber, Yvonne G.;
Lerche, Holger;
Nürnberg, Peter;
Kron, Katherine L.

Publication type:

Article

Still Missing.

Published in:

Research in Human Development, 2011, v. 8, n. 3/4, p. 227, doi. 10.1080/15427609.2011.625321

By:

Turkheimer, Eric

Publication type:

Article

Gene expression profiles in the liver of mice irradiated with <sup>60</sup>Co gamma rays and treated with soybean isoflavone.

Published in:

European Journal of Nutrition, 2006, v. 45, n. 7, p. 406, doi. 10.1007/s00394-006-0614-y

By:

Song, Li-hua;
Yan, Hong-li;
Cai, Dong-lian

Publication type:

Article

The New Biology and the Nature of Man.

Published in:

Bulletin of the Atomic Scientists, 1964, v. 20, n. 3, p. 13, doi. 10.1080/00963402.1964.11454631

By:

Beadle, George W.

Publication type:

Article

Exploring allelic imbalance within paraffin-embedded tumor biopsies using pyrosequencing technology.

Published in:

Clinical Chemistry & Laboratory Medicine, 2006, v. 44, n. 9, p. 1076, doi. 10.1515/CCLM.2006.198

By:

Pascual, Manuel Hidalgo;
Royo, José Luis;
Martínez-Tello, Francisco Jose;
Crespo, Carmen;
Salinas, Ana;
Herrero, Eduardo Ferrero;
Lopez-García, María;
Real, Luis Miguel;
Ruiz, Agustín;
Ramirez-Lorca, Reposo

Publication type:

Article

Constructing disease-specific gene networks using pair-wise relevance metric: Application to colon cancer identifies interleukin 8, desmin and enolase 1 as the central elements.

Published in:

BMC Systems Biology, 2008, v. 2, p. 1, doi. 10.1186/1752-0509-2-72

By:

Wei Jiang;
Xia Li;
Shaoqi Rao;
Lihong Wang;
Lei Du;
Chuanxing Li;
Chao Wu;
Hongzhi Wang;
Yadong Wang;
Baofeng Yang

Publication type:

Article

Comparative genomics of methicillin-resistant Staphylococcus aureus ST239: distinct geographical variants in Beijing and Hong Kong.

Published in:

BMC Genomics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2164-15-529

By:

Zheng Wang;
Haokui Zhou;
Hui Wang;
Hongbin Chen;
Leung, K. K.;
Tsui, Stephen;
Margaret Ip

Publication type:

Article

Inferring Function Using Patterns of Native Disorder in Proteins.

Published in:

PLoS Computational Biology, 2007, v. 3, n. 8, p. 1567, doi. 10.1371/journal.pcbi.0030162

By:

Lobley, Anna;
Swindells, Mark B.;
Orengo, Christine A.;
Jones, David T.

Publication type:

Article

Human genome at ten: Life is complicated.

Published in:

Nature, 2010, v. 464, n. 7289, p. 664, doi. 10.1038/464664a

By:

Hayden, Erika Check

Publication type:

Article

Human genetics illuminates the paths to metabolic disease.

Published in:

Nature, 2009, v. 462, n. 7271, p. 307, doi. 10.1038/nature08532

By:

O'Rahilly, Stephen

Publication type:

Article

Identification and characterization of a novel liver-specific enhancer of the human phenylalanine hydroxylase gene.

Published in:

Human Genetics, 2002, v. 110, n. 3, p. 235, doi. 10.1007/s00439-002-0677-7

By:

Kuan-Ju Chen;
Hung-Kun Chao;
Kwang-Jen Hsiao;
Tsung-Sheng Su

Publication type:

Article

Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene.

Published in:

Human Genetics, 2001, v. 108, n. 6, p. 546, doi. 10.1007/s004390100528

By:

Bell, R.;
Brice, G.;
Child, A. H.;
Murday, V. A.;
Mansour, S.;
Sandy, C. J.;
Collin, J. R. O.;
Brady, A. F.;
Callen, D. F.;
Burnand, K.;
Mortimer, P.;
Jeffery, S.

Publication type:

Article

Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation.

Published in:

Human Genetics, 2001, v. 108, n. 6, p. 511, doi. 10.1007/s004390100522

By:

Rio, Marlène;
Ozilou, Catherine;
Cormier-Daire, Valérie;
Turleau, Catherine;
Prieur, Marguerite;
Vekemans, Michel;
Chauveau, Pierre;
Munnich, Arnold;
Colleaux, Laurence

Publication type:

Article

Improved definition of chromosomal breakpoints using high-resolution multicolour banding.

Published in:

Human Genetics, 2001, v. 108, n. 6, p. 478, doi. 10.1007/s004390100502

By:

Lemke, Johannes;
Chudoba, Ilse;
Senger, Gabriele;
Stumm, Markus;
Loncarevic, Ivan F.;
Henry, Cathérine;
Zabel, Bernd;
Claussen, Uwe

Publication type:

Article

The structure of duplications on human acrocentric chromosome short arms derived by the analysis of 15p.

Published in:

Human Genetics, 2001, v. 108, n. 6, p. 467, doi. 10.1007/s004390100520

By:

Piccini, I.;
Ballarati, L.;
Bassi, C.;
Rocchi, M.;
Marozzi, A.;
Ginelli, E.;
Meneveri, R.

Publication type:

Article

The CYP17 Msp A1 polymorphism is not associated with an increased risk of uterine leiomyomas in a Japanese population.

Published in:

Gynecological Endocrinology, 2006, v. 22, n. 2, p. 87, doi. 10.1080/09513590500476222

By:

Tsujino, Taro;
Ohara, Noriyuki;
Yoshida, Shigeki;
Kennedy, Stephen;
Takemura, Naoya;
Deguchi, Masashi;
Maruo, Takeshi

Publication type:

Article

Molecular genetics of migraine headaches: a review.

Published in:

2000

By:

Montagna, P

Publication type:

journal article

Targeted sequencing may facilitate differential diagnostics of pulmonary tumours: a case series.

Published in:

2017

By:

Ericson-Lindquist, Kajsa;
Johansson, Anna;
Levéen, Per;
Elmberger, Göran;
Jönsson, Göran;
Staaf, Johan;
Brunnström, Hans

Publication type:

Case Study

Epilepsy genetics: clinical beginnings and social consequences.

Published in:

QJM: An International Journal of Medicine, 2009, v. 102, n. 7, p. 497, doi. 10.1093/qjmed/hcp019

By:

J.A. Johnston;
M.I. Rees;
P.E.M. Smith

Publication type:

Article

Nephrogenetics on World Kidney Day.

Published in:: Nature Genetics, 2007, v. 39, n. 3, p. 277, doi. 10.1038/ng0307-277
Publication type:: Article

Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.

Published in:

Nature Genetics, 2006, v. 38, n. 10, p. 1111, doi. 10.1038/ng1870

By:

Zara, Federico;
Biancheri, Roberta;
Bruno, Claudio;
Bordo, Laura;
Assereto, Stefania;
Gazzerro, Elisabetta;
Sotgia, Federica;
Wang, Xiao Bo;
Gianotti, Stefania;
Stringara, Silvia;
Pedemonte, Marina;
Uziel, Graziella;
Rossi, Andrea;
Schenone, Angelo;
Tortori-Donati, Paolo;
van der Knaap, Marjo S.;
Lisanti, Michael P.;
Minetti, Carlo

Publication type:

Article

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.

Published in:

2006

By:

Ramirez, Alfredo;
Heimbach, André;
Gründemann, Jan;
Stiller, Barbara;
Hampshire, Dan;
Cid, L. Pablo;
Goebel, Ingrid;
Mubaidin, Ammar F.;
Wriekat, Abdul-Latif;
Roeper, Jochen;
Al-Din, Amir;
Hillmer, Axel M.;
Karsak, Meliha;
Liss, Birgit;
Woods, C. Geoffrey;
Behrens, Maria I.;
Kubisch, Christian

Publication type:

Letter

Iron metabolism meets signal transduction.

Published in:

Nature Genetics, 2006, v. 38, n. 5, p. 503, doi. 10.1038/ng0506-503

By:

Anderson, Gregory J.;
Frazer, David M.

Publication type:

Article

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

Published in:

Nature Genetics, 2006, v. 38, n. 5, p. 521, doi. 10.1038/ng1771

By:

Stoetzel, Corinne;
Laurier, Virginie;
Davis, Erica E.;
Muller, Jean;
Rix, Suzanne;
Badano, José L;
Leitch, Carmen C.;
Salem, Nabiha;
Chouery, Eliane;
Corbani, Sandra;
Jalk, Nadine;
Vicaire, Serge;
Sarda, Pierre;
Hamel, Christian;
Lacombe, Didier;
Holder, Muriel;
Odent, Sylvie;
Holder, Susan;
Brooks, Alice S.;
Elcioglu, Nursel H.

Publication type:

Article

Systematic identification of human mitochondrial disease genes through integrative genomics.

Published in:

Nature Genetics, 2006, v. 38, n. 5, p. 576, doi. 10.1038/ng1776

By:

Calvo, Sarah;
Mohit Jain;
Xiaohui Xie;
Sheth, Sunil A.;
Chang, Betty;
Goldberger, Olga A.;
Spinazzola, Antonella;
Zeviani, Massimo;
Carr, Steven A.;
Mootha, Vamsi K.

Publication type:

Article

Laminin γ2 Expression is Developmentally Regulated during Murine Tooth Morphogenesis and is Intense in Ameloblasts.

Published in:

Journal of Dental Research, 1998, v. 77, n. 8, p. 1589, doi. 10.1177/00220345980770080601

By:

Sahlberg, C.;
Hormia, M.;
Airenne, T.;
Thesleff, I.

Publication type:

Article

Aplicação de uma webquest associada a atividades práticas e a avaliação de seus efeitos na motivação dos alunos no ensino de Biologia.

Published in:

Revista Electrónica de Enseñanza de las Ciencias, 2010, v. 9, n. 1, p. 261

By:

Carlan, Francele de Abreu;
Nunes Sepel, Lenira Maria;
Silva Loreto, Élgion Lucio

Publication type:

Article

Renal function in relation to three candidate genes in a Chinese population.

Published in:

Journal of Molecular Medicine, 2004, v. 82, n. 10, p. 715, doi. 10.1007/s00109-004-0574-8

By:

Wang, Ji-Guang;
Liu, Lifang;
Zagato, Laura;
Xie, Jinxiang;
Fagard, Robert;
Jin, Kugen;
Wang, Jinxiang;
Li, Yan;
Bianchi, Giuseppe;
Staessen, Jan A.;
Liu, Lisheng

Publication type:

Article

Genetic changes in bilateral breast cancer by comparative genomic hybridisation.

Published in:

Clinical & Experimental Medicine, 2007, v. 7, n. 1, p. 1, doi. 10.1007/s10238-007-0123-1

By:

Park, S.-C.;
Hwang, U.-K.;
Ahn, S.-H.;
Gong, G.-Y.;
Yoon, H.-S.

Publication type:

Article

Contributions to our understanding of T cell physiology through unveiling the T cell proteome.

Published in:

Clinical & Experimental Immunology, 2007, v. 149, n. 1, p. 9, doi. 10.1111/j.1365-2249.2007.03395.x

By:

Grant, M. M.;
Scheel-Toellner, D.;
Griffiths, H. R.

Publication type:

Article

Loss of expression of antigen-presenting molecules in human pancreatic cancer and pancreatic cancer cell lines.

Published in:

Clinical & Experimental Immunology, 2007, v. 148, n. 1, p. 127, doi. 10.1111/j.1365-2249.2006.03289.x

By:

Pandha, H.;
Rigg, A;
John, J.;
Lemoine, N.

Publication type:

Article

Another locus, a new method.

Published in:

Brain: A Journal of Neurology, 2010, v. 133, n. 12, p. 3492, doi. 10.1093/brain/awq331

By:

Singleton, Andrew B.;
Gibbs, J. Raphael

Publication type:

Article

Approaches in type 1 diabetes research: A status report.

Published in:

2009

By:

Raha, Oindrila;
Chowdhury, Subhankar;
Dasgupta, Samir;
Raychaudhuri, P.;
Sarkar, B. N.;
Raju, P. Veer;
Rao, V. R.

Publication type:

journal article

Thalassemia: the long road from the bedside through the laboratory to the community.

Published in:

Nature Medicine, 2010, v. 16, n. 10, p. 1112, doi. 10.1038/nm1010-1112

By:

Weatherall, David

Publication type:

Article

Four novel mutations of the myelin protein zero gene presenting as a mild and late-onset polyneuropathy.

Published in:

Journal of Neurology, 2010, v. 257, n. 11, p. 1864, doi. 10.1007/s00415-010-5624-2

By:

Kleffner, Ilka;
Schirmacher, Anja;
Gess, Burkhard;
Boentert, Matthias;
Young, Peter

Publication type:

Article

Inter and intratumour heterogeneity: a barrier to individualized medical therapy in renal cell carcinoma?

Published in:

Frontiers in Oncology, 2012, v. 2, p. 1, doi. 10.3389/fonc.2012.00049

By:

Fisher, Rosalie;
Larkin, James;
Swanton, Charles

Publication type:

Article

Molecular genetic basis of Gilbert’s syndrome.

Published in:

Journal of Gastroenterology & Hepatology, 1999, v. 14, n. 10, p. 960, doi. 10.1046/j.1440-1746.1999.01984.x

By:

Burchell, B;
Hume, R

Publication type:

Article

Human Molecular Genetics.

Published in:

2010

By:

Vink, Jacqueline

Publication type:

Book Review

DISCovery in psychiatric genetics.

Published in:

Molecular Psychiatry, 2014, v. 19, n. 2, p. 145, doi. 10.1038/mp.2013.176

By:

Niculescu, A B

Publication type:

Article

Independence of familial transmission of mania and depression: results of the NIMH family study of affective spectrum disorders.

Published in:

Molecular Psychiatry, 2014, v. 19, n. 2, p. 214, doi. 10.1038/mp.2013.116

By:

Merikangas, K R;
Cui, L;
Heaton, L;
Nakamura, E;
Roca, C;
Ding, J;
Qin, H;
Guo, W;
Yao-Shugart, Y;
Zarate, C;
Angst, J

Publication type:

Article

DISC1 as a genetic risk factor for schizophrenia and related major mental illness: response to Sullivan.

Published in:

Molecular Psychiatry, 2014, v. 19, n. 2, p. 141, doi. 10.1038/mp.2013.160

By:

Porteous, D J;
Thomson, P A;
Millar, J K;
Evans, K L;
Hennah, W;
Soares, D C;
McCarthy, S;
McCombie, W R;
Clapcote, S J;
Korth, C;
Brandon, N J;
Sawa, A;
Kamiya, A;
Roder, J C;
Lawrie, S M;
McIntosh, A M;
St Clair, D;
Blackwood, D H

Publication type:

Article