Works matching DE "HUMAN molecular genetics"

Results: 186

L/I-2 Living related liver transplants: preliminary report on an initial experience in Italy.

Published in:

Clinical Transplantation, 2006, v. 20, p. 28, doi. 10.1111/j.1399-0012.2006.00577_3_2.x

By:

Gruttadauria, S.;
Mandala, L.;
Cintorino, D.;
Biondo, D.;
Panarello, G.;
Verzaro, R.;
Spada, M.;
Marsh, J. W.;
Marcos, A.;
Gridelli, B.

Publication type:

Article

The role of molecular markers in the staging of renal cell carcinoma.

Published in:

BJU International, 2007, v. 99, p. 1208, doi. 10.1111/j.1464-410X.2007.06812.x

By:

Leppert, John T.;
Pantuck, Allan J.;
Figlin, Robert A.;
Belldegrun, Arie S.

Publication type:

Article

Genetic basis of kidney cancer: a model for developing molecular-targeted therapies.

Published in:

BJU International, 2007, v. 99, p. 1223, doi. 10.1111/j.1464-410X.2007.06814.x

By:

Vira, Manish A.;
Novakovic, Kristian R.;
Pinto, Peter A.;
Linehan, W. Marston

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

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

Overexpression of MDM2 in a sclerosing epithelioid fibrosarcoma: Genetic, immunohistochemical and ultrastructural study of a case.

Published in:

Pathology International, 2002, v. 52, n. 2, p. 135, doi. 10.1046/j.1440-1827.2002.01326.x

By:

Jiao, Yu-Fei;
Nakamura, Shin-ichi;
Sugai, Tamotsu;
Uesugi, Noriyuki;
Habano, Wataru;
Ogata, Masaya;
Fujioka, Tomoaki

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

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

Molecular genetic analysis for a novel Ael allele of the ABO blood group system.

Published in:

Journal of Human Genetics, 2005, v. 50, n. 12, p. 671, doi. 10.1007/s10038-005-0308-y

By:

Qiong Yu;
Zhi-Hui Deng;
Guo-Guang Wu;
Yan-Lian Lian;
Yu-Qing Su

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

A standardized framework for the validation and verification of clinical molecular genetic tests.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1276, doi. 10.1038/ejhg.2010.101

By:

Mattocks, Christopher J.;
Morris, Michael A.;
Matthijs, Gert;
Swinnen, Elfriede;
Corveleyn, Anniek;
Dequeker, Els;
Müller, Clemens R.;
Pratt, Victoria;
Wallace, Andrew

Publication type:

Article

Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 8, p. 920, doi. 10.1038/sj.ejhg.5200384

By:

Meuleman, Jan;
Kuhlenbäumer, Gregor;
Schirmacher, Anja;
Wehnert, Manfred;
De Jonghe, Peter;
De Vriendt, Els;
Young, Peter;
Airaksinen, Eila;
Pou-Serradell, Adolfo;
Prats, José-Maria;
Ringelstein, Bernd;
Stögbauer, Florian;
Van Broeckhoven, Christine;
Timmerman, Vincent

Publication type:

Article

Molecular organization of the mucins and glycocalyx underlying mucus transport over mucosal surfaces of the airways.

Published in:

Mucosal Immunology (1933-0219), 2013, v. 6, n. 2, p. 379, doi. 10.1038/mi.2012.81

By:

Kesimer, M;
Ehre, C;
Burns, K A;
Davis, C W;
Sheehan, J K;
Pickles, R J

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

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

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

Exploring the variation within.

Published in:

Nature Genetics, 2012, v. 44, n. 6, p. 614, doi. 10.1038/ng.2311

By:

Macosko, Evan Z;
McCarroll, Steven A

Publication type:

Article

Exome sequencing and the genetic basis of complex traits.

Published in:

Nature Genetics, 2012, v. 44, n. 6, p. 623, doi. 10.1038/ng.2303

By:

Kiezun, Adam;
Garimella, Kiran;
Do, Ron;
Stitziel, Nathan O;
Neale, Benjamin M;
McLaren, Paul J;
Gupta, Namrata;
Sklar, Pamela;
Sullivan, Patrick F;
Moran, Jennifer L;
Hultman, Christina M;
Lichtenstein, Paul;
Magnusson, Patrik;
Lehner, Thomas;
Shugart, Yin Yao;
Price, Alkes L;
de Bakker, Paul I W;
Purcell, Shaun M;
Sunyaev, Shamil R

Publication type:

Article

The Pediatric Cancer Genome Project.

Published in:

Nature Genetics, 2012, v. 44, n. 6, p. 619, doi. 10.1038/ng.2287

By:

Downing, James R;
Wilson, Richard K;
Zhang, Jinghui;
Mardis, Elaine R;
Pui, Ching-Hon;
Ding, Li;
Ley, Timothy J;
Evans, William E

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

Pantothenate kinase-associated neurodegeneration (PKAN): molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene.

Published in:

Turkish Journal of Pediatrics, 2009, v. 51, n. 2, p. 161

By:

Cangül, Hakan;
Özdemir, Özlem;
Yakut, Tahsin;
Okan, Mehmet;
Morgan, Neil V.;
Baytan, Birol;
Kurian, Manju A.;
Spiegel, Ronald;
Maher, Eamonn R.

Publication type:

Article

Ionic strength and magnesium affect the specificity of Escherichia coli and human 8-oxoguanine-DNA glycosylases.

Published in:

FEBS Journal, 2008, v. 275, n. 15, p. 3747, doi. 10.1111/j.1742-4658.2008.06521.x

By:

Sidorenko, Viktoriya S.;
Mechetin, Grigory V.;
Nevinsky, Georgy A.;
Zharkov, Dmitry O.

Publication type:

Article

Lipocalin 2 is essential for chronic kidney disease progression in mice and humans.

Published in:

2010

By:

Viau, Amandine;
El Karoui, Khalil;
Laouari, Denise;
Burtin, Martine;
Nguyen, Clément;
Mori, Kiyoshi;
Pillebout, Evangôline;
Berger, Thorsten;
Mak, Tak Wah;
Knebelmann, Bertrand;
Friedlander, Gôrard;
Barasch, Jonathan;
Terzi, Fabiola;
Nguyen, Clément;
Pillebout, Evangéline;
Friedlander, Gérard

Publication type:

journal article

Structural and Biochemical Properties of Fibroblast Growth Factor 23.

Published in:

Therapeutic Apheresis & Dialysis, 2005, v. 9, n. 4, p. 313, doi. 10.1111/j.1744-9987.2005.00288.x

By:

Yamashita, Takeyoshi

Publication type:

Article

Genetic Demographic Survey of the Gagauz Population of Moldova.

Published in:

Russian Journal of Genetics, 2003, v. 39, n. 9, p. 1061, doi. 10.1023/A:1025735420247

By:

Varsahr, A. M.;
Spitsyn, V. A.;
Sheremetyeva, V. A.

Publication type:

Article

Polymorphism of Xenobiotic Metabolism Genes in Petrochemical Workers.

Published in:

Russian Journal of Genetics, 2003, v. 39, n. 9, p. 1070, doi. 10.1023/A:1025787404317

By:

Makarova, O. V.;
Viktorova, T. V.;
Yanbaeva, D. G.;
Koritina, G. F.;
Yakupova, E. V.;
Karimova, L. K.

Publication type:

Article

Prevalence and Molecular Genetic Typing of Nonsyndromic Sensorineural Deafness in Chuvash Republic.

Published in:

Russian Journal of Genetics, 2003, v. 39, n. 9, p. 1076, doi. 10.1023/A:1025739521156

By:

Zinchenko, R. A.;
Zinchenko, S. P.;
Galkina, V. A.;
Elchinova, G. I.;
Nurbaev, S. D.;
Polyakov, A. V.;
Nekrasova, N. Yu.;
Ginter, E. K.

Publication type:

Article

MOLECULAR BIOLOGY, HUMAN DEVELOPMENT AND ART HISTORY - REFLECTIONS ABOUT THE "HUMAN GENOME" MONOGRAPH (DR. GEORGETA CARDOŞ AND PROF. DR. DR. ALEXANDER RODEWALD).

Published in:

Oltenia, Studii si Comunicari Seria Stiintele Naturii, 2014, v. 30, n. 2, p. 255

By:

Gabriel, CORNEANU C.;
Mihaela, CORNEANU

Publication type:

Article

Genome-wide Significant Associations for Cannabis Dependence Severity: Relevance to Psychiatric Disorders.

Published in:

2016

By:

Walters, James T. R.;
Owen, Michael J.

Publication type:

journal article

An atypical contiguous gene syndrome: molecular studies in a family with X–linked Kallmann's syndrome and X-linked ichthyosis.

Published in:

Clinical Endocrinology, 1999, v. 50, n. 2, p. 157, doi. 10.1046/j.1365-2265.1999.00588.x

By:

Maya-Nuñez, Guadalupe;
Torres, Leda;
Ulloa-Aguirre, Alfredo;
Carlos Zenteno, Juan;
Cuevas-Covarrubias, Sergio;
Saavedra-Ontiveros, Dolores;
Kofman-Alfaro, Susana;
Pablo Méndez, Juan

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

Molecular analysis of Friedreich's ataxia locus in the Indian population.

Published in:

Acta Neurologica Scandinavica, 2000, v. 102, n. 4, p. 227, doi. 10.1034/j.1600-0404.2000.102004227.x

By:

Mukerji, M.;
Choudhry, S.;
Saleem, Q.;
Padma, M. V.;
Maheshwari, M. C.;
Jain, S.

Publication type:

Article

Platelet factor 4-heparin complexes trigger immune responses independently of the MyD88 pathway.

Published in:

2008

By:

Suvarna, Shayela;
Rui Qi;
Hollingsworth, John W.;
Arepally, Gowthami M.

Publication type:

Letter

The Important Molecular Markers on Chromosome 17 and Their Clinical Impact in Breast Cancer.

Published in:

International Journal of Molecular Sciences, 2011, v. 12, n. 9, p. 5672, doi. 10.3390/ijms12095672

By:

Zhang, Wei;
Yu, Yingyan

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

Human Molecular Genetics Has Not Yet Contributed to Measurable Public Health Advances.

Published in:

Perspectives in Biology & Medicine, 2018, v. 61, n. 4, p. 537, doi. 10.1353/pbm.2018.0063

By:

Paneth, Nigel;
Vermund, Sten H.

Publication type:

Article

Growth medium-dependent ERK1/2 and AP-1 activity in cultured normal human keratinocytes modulates 1α,25-dihydroxyvitamin D<sub>3</sub>-induced differentiation.

Published in:

Archives of Dermatological Research, 2003, v. 295, n. 5, p. 199, doi. 10.1007/s00403-003-0409-4

By:

Johansen, Claus;
Kragballe, Knud;
Iversen, Lars

Publication type:

Article

Human VAT-1: a calcium-regulated activation marker of human epithelial cells.

Published in:

Archives of Dermatological Research, 2003, v. 295, n. 5, p. 203, doi. 10.1007/s00403-003-0421-8

By:

Koch, Judith;
Foekens, John;
Timmermans, Mieke;
Fink, Wolfram;
Wirzbach, Alexander;
Kramer, Michael D.;
Schaefer, Birgit M.

Publication type:

Article

Molecular causes of colon cancer.

Published in:

European Journal of Clinical Investigation, 2002, v. 32, n. 6, p. 448, doi. 10.1046/j.1365-2362.2002.01004.x

By:

Oving, Irma M;
Clevers, Hans C

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