Works matching DE "HUMAN molecular genetics"

Results: 186

Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean.

Published in:

Neurogenetics, 2006, v. 7, n. 2, p. 111, doi. 10.1007/s10048-005-0024-y

By:

Cannelli, Natalia;
Cassandrini, Denise;
Bertini, Enrico;
Striano, Pasquale;
Fusco, Lucia;
Gaggero, Roberto;
Specchio, Nicola;
Biancheri, Roberta;
Vigevano, Federico;
Bruno, Claudio;
Simonati, Alessandro;
Zara, Federico;
Santorelli, Filippo M.

Publication type:

Article

Broadening our understanding by the use of molecular cytogenetic techniques: full monosomy 21.

Published in:

2011

By:

Martinez-Garcia, Monica;
Ainse, Eva;
García-Hoyos, Maria;
Bustamante, Ana;
Cardero, Rocio;
Ramos-Corrales, Carmen;
Trujillo-Tiebas, Maria;
Alba, Marta;
Lorda, Isabel

Publication type:

Report

Long QT syndrome mutation detection by SNaPshot technique.

Published in:

International Journal of Legal Medicine, 2012, v. 126, n. 6, p. 969, doi. 10.1007/s00414-011-0598-x

By:

Edelmann, Jeanett;
Schumann, Stefanie;
Nastainczyk, Marina;
Husser-Bollmann, Daniela;
Lessig, Rüdiger

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

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

Turcot syndrome confirmed with molecular analysis.

Published in:

European Journal of Neurology, 2007, v. 14, n. 4, p. 470, doi. 10.1111/j.1468-1331.2006.01669.x

By:

Lebrun, C.;
Olschwang, S.;
Jeannin, S.;
Vandenbos, F.;
Sobol, H.;
Frenay, M.

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

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

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

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

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

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

Ovarian carcinomas with genetic and epigenetic BRCA1 loss have distinct molecular abnormalities.

Published in:

BMC Cancer, 2008, v. 8, p. 1, doi. 10.1186/1471-2407-8-17

By:

Press, Joshua Z.;
De Luca, Alessandro;
Boyd, Niki;
Young, Sean;
Troussard, Armelle;
Ridge, Yolanda;
Kaurah, Pardeep;
Kalloger, Steve E.;
Blood, Katherine A.;
Smith, Margaret;
Spellman, Paul T.;
Yuker Wang;
Miller, Dianne M.;
Horsman, Doug;
Faham, Malek;
Gilks, C. Blake;
Gray, Joe;
Huntsman, David G.

Publication type:

Article

Polymorphism in a Human Chromosome-Specific Interstitial Telomere-Like Sequence at 22q11.2.

Published in:

Cytogenetic & Genome Research, 2011, v. 134, n. 3, p. 174, doi. 10.1159/000328862

By:

Samassekou, O.;
Yan, J.

Publication type:

Article

Comparative Chromosome Painting of Four Siberian Vespertilionidae Species with Aselliscus stoliczkanus and Human Probes.

Published in:

Cytogenetic & Genome Research, 2011, v. 134, n. 3, p. 200, doi. 10.1159/000328834

By:

Kulemzina, A. I.;
Nie, W.;
Trifonov, V. A.;
Staroselec, Y.;
Vasenkov, D. A.;
Volleth, M.;
Yang, F.;
Graphodatsky, A. S.

Publication type:

Article

Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran.

Published in:

Clinical Case Reports, 2015, v. 3, n. 2, p. 114, doi. 10.1002/ccr3.168

By:

Shariati, Gholamreza;
Mohammad Hamid;
Saberi, Alihossein;
Andashti, Behnaz;
Galehdari, Hamid

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

NRAMP1 and TNF-α polymorphisms and susceptibility to tuberculosis in Thais.

Published in:

Respirology, 2007, v. 12, n. 2, p. 202, doi. 10.1111/j.1440-1843.2006.01037.x

By:

Vejbaesya, Sasijit;
Chierakul, Nitipatana;
Luangtrakool, Panpimon;
Sermduangprateep, Chutima

Publication type:

Article

Human Molecular Genetics.

Published in:

2010

By:

Vink, Jacqueline

Publication type:

Book Review

Somatic Mutation Profiles of MSI and MSS Colorectal Cancer Identified by Whole Exome Next Generation Sequencing and Bioinformatics Analysis.

Published in:

PLoS ONE, 2010, v. 5, n. 12, p. 1, doi. 10.1371/journal.pone.0015661

By:

Timmermann, Bernd;
Kerick, Martin;
Roehr, Christina;
Fischer, Axel;
Isau, Melanie;
Boerno, Stefan T.;
Wunderlich, Andrea;
Barmeyer, Christian;
Seemann, Petra;
Koenig, Jana;
Lappe, Michael;
Kuss, Andreas W.;
Garshasbi, Masoud;
Bertram, Lars;
Trappe, Kathrin;
Werber, Martin;
Herrmann, Bernhard G.;
Zatloukal, Kurt;
Lehrach, Hans;
Schweiger, Michal R.

Publication type:

Article

Cell-Autonomous Requirement for Rx Function in the Mammalian Retina and Posterior Pituitary.

Published in:

PLoS ONE, 2009, v. 4, n. 2, p. 1, doi. 10.1371/journal.pone.0004513

By:

Medina-Martinez, Olga;
Amaya-Manzanares, Felipe;
Chaomei Liu;
Mendoza, Marisela;
Shah, Rina;
Li Zhang;
Behringer, Richard R.;
Mahon, Kathleen A.;
Jamrich, Milan

Publication type:

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

Presence of D8/17 B-cell marker in patients with poststreptococcal reactive arthritis.

Published in:

Rheumatology International, 2007, v. 27, n. 8, p. 695, doi. 10.1007/s00296-006-0296-z

By:

Harel, Liora;
Mukamel, Masha;
Zeharia, Abraham;
Kodman, Yona;
Prais, Dario;
Uziel, Yosef;
Zabriskie, John;
Amir, Jacob

Publication type:

Article

Is the CD14 C159T polymorphism effective in the development of secondary amyloidosis in Familial Mediterranean fever?

Published in:

Rheumatology International, 2007, v. 27, n. 8, p. 691, doi. 10.1007/s00296-006-0286-1

By:

Keskin, Ozlem;
Yilmaz, Engin;
Kutlay, Sim;
Bakkaloglu, Aysin;
Topaloglu, Rezan;
Arici, Mustafa;
Kalayci, Omer;
Ozen, Seza

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

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

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

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

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

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

Molecular genetic evidence for overlap between general cognitive ability and risk for schizophrenia: a report from the Cognitive Genomics consorTium (COGENT).

Published in:

Molecular Psychiatry, 2014, v. 19, n. 2, p. 168, doi. 10.1038/mp.2013.166

By:

Lencz, T;
Knowles, E;
Davies, G;
Guha, S;
Liewald, D C;
Starr, J M;
Djurovic, S;
Melle, I;
Sundet, K;
Christoforou, A;
Reinvang, I;
Mukherjee, S;
DeRosse, Pamela;
Lundervold, A;
Steen, V M;
John, M;
Espeseth, T;
Räikkönen, K;
Widen, E;
Palotie, A

Publication type:

Article

General summary.

Published in:

Molecular Psychiatry, 2001, v. 6, n. 4, p. 353, doi. 10.1038/sj.mp.4000939

By:

Martin, A.;
Licinio, J.

Publication type:

Article

Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II.

Published in:

Clinical Genetics, 2011, v. 79, n. 4, p. 378, doi. 10.1111/j.1399-0004.2010.01483.x

By:

Lee, K.-E.;
Kang, H.-Y.;
Lee, S.-K.;
Yoo, S.-H.;
Lee, J.-C.;
Hwang, Y.-H.;
Nam, K. H.;
Kim, J.-S.;
Park, J.-C.;
Kim, J.-W.

Publication type:

Article

Genetics in Hollywood: from real to reel.

Published in:

Clinical Genetics, 2010, v. 77, n. 2, p. 106, doi. 10.1111/j.1399-0004.2009.01343.x

By:

Grody, Wayne W.

Publication type:

Article

MCAD mutations identified in newborn screening cause different levels of enzymatic dysfunction.

Published in:

Clinical Genetics, 2009, v. 76, n. 2, p. 146, doi. 10.1111/j.1399-0004.2009.01247_1.x

By:

Ehrnhoefer, D. E.

Publication type:

Article

Commentary – Genetic diversity and science communication – some issues of ‘translation’ and language.

Published in:

Clinical Genetics, 2006, v. 70, n. 5, p. 451, doi. 10.1111/j.1399-0004.2006.00683.x

By:

Richards, Martin P. M.

Publication type:

Article

The challenges of translating genomic knowledge.

Published in:

Clinical Genetics, 2006, v. 70, n. 5, p. 433, doi. 10.1111/j.1399-0004.2006.00682.x

By:

Einsiedel, Edna F.

Publication type:

Article

Assessing risk assessment: genetic testing and screening for complex disease.

Published in:

Clinical Genetics, 2006, v. 70, n. 5, p. 438, doi. 10.1111/j.1399-0004.2006.00681.x

By:

Cox, Susan M.

Publication type:

Article

Introduction: genetic diversity and science communication.

Published in:

Clinical Genetics, 2006, v. 70, n. 5, p. 424, doi. 10.1111/j.1399-0004.2006.00707.x

By:

Caulfield, Timothy

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

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

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