Works matching DE "HUMAN heredity"

Results: 370

Automated assignment of NOESY NMR spectra using a knowledge based method (KNOWNOE).

Published in:

Journal of Biomolecular NMR, 2002, v. 23, n. 4, p. 271, doi. 10.1023/A:1020279503261

By:

Gronwald, Wolfram;
Moussa, Sherif;
Elsner, Ralph;
Jung, Astrid;
Ganslmeier, Bernhard;
Trenner, Jochen;
Kremer, Werner;
Neidig, Klaus-Peter;
Kalbitzer, Hans Robert

Publication type:

Article

Phenotype variability and neonatal diabetes in a large family with heterozygous mutation of the glucokinase gene.

Published in:

Acta Diabetologica, 2011, v. 48, n. 3, p. 203, doi. 10.1007/s00592-011-0279-8

By:

Borowiec, Maciej;
Mysliwiec, Malgorzata;
Fendler, Wojciech;
Antosik, Karolina;
Brandt, Agnieszka;
Malecki, Maciej;
Mlynarski, Wojciech

Publication type:

Article

'It is an entrustment': Broad consent for genomic research and biobanks in sub-Saharan Africa.

Published in:

2019

By:

Tindana, Paulina;
Molyneux, Sassy;
Bull, Susan;
Parker, Michael

Publication type:

journal article

H3Africa: An Africa exemplar? Exploring its framework on protecting human research participants.

Published in:

2018

By:

Nnamuchi, Obiajulu

Publication type:

journal article

Neurogenic neuroinflammation: inflammatory CNS reactions in response to neuronal activity.

Published in:

Nature Reviews Neuroscience, 2014, v. 15, n. 1, p. 43, doi. 10.1038/nrn3617

By:

Xanthos, Dimitris N.;
Sandkühler, Jürgen

Publication type:

Article

Retinal pathology in the fellow eye of patients presenting with wet age-related macular degeneration in the index eye.

Published in:

Eye (0950-222X), 2009, v. 23, n. 9, p. 1873, doi. 10.1038/eye.2008.374

By:

Raj, A.;
Alexander, P.;
Puri, P.

Publication type:

Article

Ranibizumab treatment for neovascular age-related macular degeneration: from randomized trials to clinical practice.

Published in:

Eye (0950-222X), 2009, v. 23, n. 8, p. 1633, doi. 10.1038/eye.2009.175

By:

Michalova, K.;
Wickremasinghe, S. S.;
Tan, T. H.;
Chang, A.;
Harper, C. A.;
Downie, J. A.;
Hunyor, A. P.;
Guymer, R. H.

Publication type:

Article

Dilated examination of patients referred with minor lid complaints—is it necessary?

Published in:

Eye (0950-222X), 2007, v. 21, n. 7, p. 941, doi. 10.1038/sj.eye.6702348

By:

Tomlins, P. J.;
Benskin, S.;
Tahhan, M.;
Tyagi, A. K.

Publication type:

Article

Exudative age-related macular degeneration treated by intravitreal triamcinolone acetonide. A prospective comparative nonrandomized study.

Published in:

Eye (0950-222X), 2005, v. 19, n. 2, p. 163, doi. 10.1038/sj.eye.6701438

By:

Jonas, J. B.;
Degenring, R. F.;
Kreissig, I.;
Friedemann, T.;
Akkoyun, I.

Publication type:

Article

Novel mutation in ABCC6 gene in a Japanese pedigree with pseudoxanthoma elasticum and retinitis pigmentosa.

Published in:

Eye (0950-222X), 2005, v. 19, n. 2, p. 215, doi. 10.1038/sj.eye.6701449

By:

Yoshida, S.;
Honda, M.;
Yoshida, A.;
Nakao, S.;
Goto, Y.;
Nakamura, T.;
Fujisawa, K.;
Ishibashi, T.

Publication type:

Article

The ocular manifestations of Weissenbacher-Zweymuller syndrome.

Published in:

Eye (0950-222X), 2004, v. 18, n. 12, p. 1258, doi. 10.1038/sj.eye.6701386

By:

Rabinowitz, R.;
Gradstein, L.;
Galil, A.;
Levy, J.;
Lifshitz, T.

Publication type:

Article

Genes encoding longevity: from model organisms to humans.

Published in:

Aging Cell, 2008, v. 7, n. 2, p. 270, doi. 10.1111/j.1474-9726.2008.00366.x

By:

Kuningas, Maris;
Mooijaart, Simon P.;
Van Heemst, Diana;
Zwaan, Bas J.;
Slagboom, P. Eline;
Westendorp, Rudi G. J.

Publication type:

Article

Temporomandibular Joint Degeneration in Alport's Syndrome: Review of Literature and Case Report.

Published in:

Journal of Orofacial Pain, 1993, v. 7, n. 3, p. 307

By:

Gingrass, David

Publication type:

Article

Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration.

Published in:

Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0218-y

By:

Gomez-Deza, Jorge;
Youn-bok Lee;
Troakes, Claire;
Nolan, Matthew;
Al-Sarraj, Safa;
Gallo, Jean-Marc;
Shaw, Christopher E.

Publication type:

Article

Wild type human TDP-43 potentiates ALS-linked mutant TDP-43 driven progressive motor and cortical neuron degeneration with pathological features of ALS.

Published in:

Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0212-4

By:

Mitchell, Jacqueline C.;
Constable, Remy;
Eva So;
Vance, Caroline;
Scotter, Emma;
Glover, Leanne;
Hortobagyi, Tibor;
Arnold, Eveline S.;
Shuo-Chien Ling;
McAlonis, Melissa;
Da Cruz, Sandrine;
Polymenidou, Magda;
Tessarolo, Lino;
Cleveland, Don W.;
Shaw, Christopher E.

Publication type:

Article

High copy wildtype human 1N4R tau expression promotes early pathological tauopathy accompanied by cognitive deficits without progressive neurofibrillary degeneration.

Published in:

Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0210-6

By:

Wheeler, Jeanna M.;
McMillan, Pamela J.;
Hawk, Michele;
Iba, Michiyo;
Robinson, Linda;
Xu, George J.;
Dombroski, Beth A.;
Doori Jeong;
Dichter, Marc A.;
Halvor Juul;
Loomis, Elaine;
Raskind, Murray;
Leverenz, James B.;
Trojanowski, John Q.;
Lee, Virginia M. Y.;
Schellenberg, Gerard D.;
Kraemer, Brian C.

Publication type:

Article

Utility and limitations of animal models for the functional validation of human sequence variants.

Published in:

Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 5, p. 375, doi. 10.1002/mgg3.167

By:

Cox, Timothy C.

Publication type:

Article

Single nucleotide polymorphisms as a predisposing factor for the development of apical periodontitis—An umbrella review.

Published in:

International Endodontic Journal, 2022, v. 55, n. 7, p. 700, doi. 10.1111/iej.13756

By:

Jakovljevic, Aleksandar;
Jacimovic, Jelena;
Georgiou, Athina Christina;
Nikolic, Nadja;
Aminoshariae, Anita;
van der Waal, Suzette V.;
Nagendrababu, Venkateshbabu

Publication type:

Article

Parent-offspring resemblance of palmar and plantar dermatoglyphic patterns in Down syndrome.

Published in:

Cytogenetics & Cell Genetics, 2000, v. 91, n. 1-4, p. 157, doi. 10.1159/000056837

By:

Langenbeck, U.;
Herzberger, G.;
Kümmerle, S.

Publication type:

Article

The case against preadoption genetic testing.

Published in:

Child Welfare, 1998, v. 77, n. 6, p. 663

By:

Freundlich, Madelyn D.

Publication type:

Article

Exercise as an Influence Upon Growth.

Published in:

Clinical Pediatrics, 1969, v. 8, n. 1, p. 16, doi. 10.1177/000992286900800106

By:

Malina, Robert M.

Publication type:

Article

Eugenics and Genetic Equilibrium.

Published in:

Clinical Pediatrics, 1968, v. 7, n. 1, p. 2

By:

Winkelstein Jr., Warren

Publication type:

Article

Book Review Essay: Luck's Expanding Footprint.

Published in:

2022

By:

Frank, Robert H.

Publication type:

Book Review

Association of Family History With Cancer Recurrence and Survival Among Patients With Stage III Colon Cancer.

Published in:

JAMA: Journal of the American Medical Association, 2008, v. 299, n. 21, p. 2515, doi. 10.1001/jama.299.21.2515

By:

Chan, Jennifer A.;
Meyerhardt, Jeffrey A.;
Niedzwiecki, Donna;
Hollis, Donna;
Saltz, Leonard B.;
Mayer, Robert J.;
Thomas, James;
Schaefer, Paul;
Whittom, Renaud;
Hantel, Alexander;
Goldberg, Richard M.;
Warren, Robert S.;
Bertagnolli, Monica;
Fuchs, Charles S.

Publication type:

Article

Acquired Traits Revisited.

Published in:

American Biology Teacher (National Association of Biology Teachers), 2011, v. 73, n. 2, p. 86, doi. 10.1525/abt.2011.73.2.6

By:

Stansfield, William D.

Publication type:

Article

A Cookie Model for the Development of the Concept of Independent Assortment.

Published in:

American Biology Teacher (National Association of Biology Teachers), 1998, v. 60, n. 9, p. 696, doi. 10.2307/4450583

By:

Ruch, Donald G.

Publication type:

Article

Fishing for Pleiotropic QTLs in a Polygenic Sea.

Published in:

Annals of Human Genetics, 2005, v. 69, n. 5, p. 590, doi. 10.1111/j.1529-8817.2005.00181.x

By:

Bauman, L. E.;
Almasy, L.;
Blangero, J.;
Duggirala, R.;
Sinsheimer, J. S.;
Lange, K.

Publication type:

Article

Contribution of Chromosome 1q21-q23 to Familial Combined Hyperlipidemia in Mexican Families.

Published in:

Annals of Human Genetics, 2004, v. 68, n. 5, p. 419, doi. 10.1046/j.1529-8817.2003.00116.x

By:

Huertas-Vázquez, A.;
del Rincon, J. R;
Canizales-Quinteros, S.;
Riba, L.;
Vega-Hernández, G.;
Ramirez-Jiménez, S.;
Aurón-Gomez, M.;
Gomez-Pérez, F. J.;
Aguilar-Salinas, C. A.;
Tusié-Luna, M. T.

Publication type:

Article

Genetic Dissection of Human Stature in a Large Sample of Multiplex Pedigrees.

Published in:

Annals of Human Genetics, 2004, v. 68, n. 5, p. 472, doi. 10.1046/j.1529-8817.2003.00117.x

By:

Yao-Zhong Liu;
Fu-Hua Xu;
Hui Shen;
Yong-Jun Liu;
Lan-Juan Zhao;
Ji-Rong Long;
Yuan-Yuan Zhang;
Peng Xiao;
Dong-Hai Xiong;
Dvornyk, Volodymyr;
Jin-Long Li;
Conway, Theresa;
Davies, K. Michael;
Recker, Robert R.;
Hong-Wen Deng

Publication type:

Article

The Structure of Perfectionism: A Twin Study.

Published in:

Behavior Genetics, 2004, v. 34, n. 5, p. 483, doi. 10.1023/B:BEGE.0000038486.47219.76

By:

Tozzi, Federica;
Aggen, Steven H.;
Neale, Benjamin M.;
Anderson, Charles B.;
Mazzeo, Suzanne E.;
Neale, Michael C.;
Bulik, Cynthia M.

Publication type:

Article

An Assessment of Transmission Disequilibrium Between Quantitative Measures of Childhood Problem Behaviors and DRD2/Taql and DRD4/48bp-Repeat Polymorphisms.

Published in:

Behavior Genetics, 2004, v. 34, n. 5, p. 495, doi. 10.1023/B:BEGE.0000038487.80597.7e

By:

Marino, Cecilia;
Vanzin, Laura;
Giorda, Roberto;
Frigerio, Alessandra;
Lorusso, Maria Luisa;
Nobile, Maria;
Molteni, Massimo;
Battaglia, Marco

Publication type:

Article

Detection of Intragenic SMN1 Mutations in Spinal Muscular Atrophy Patients With a Single Copy of SMN1.

Published in:

Journal of Child Neurology, 2015, v. 30, n. 5, p. 558, doi. 10.1177/0883073814521297

By:

Ganji, Hamid;
Nouri, Nayereh;
Salehi, Mansoor;
Aryani, Omid;
Houshmand, Massoud;
Basiri, Keivan;
Fazel-Najafabadi, Esmat;
Sedghi, Maryam

Publication type:

Article

THE EMBRYO DEVELOPMENT IN QURANIC VERSES.

Published in:

Medicina nei Secoli: Arte e Scienza, 2017, v. 29, n. 1, p. 921

By:

ELSAKAAN, NESMA;
LONGO, MICHELE

Publication type:

Article

MASCHILE E FEMMINILE NELLA TRASMISSIONE DEI CARATTERI EREDITARI: DA ATENE A SPARTA.

Published in:

Medicina nei Secoli: Arte e Scienza, 2017, v. 29, n. 1, p. 901

By:

GAZZANIGA, VALENTINA;
CILIONE, MARCO

Publication type:

Article

Heritability and causality.

Published in:

Philosophy of Science, 1993, v. 60, n. 3, p. 396, doi. 10.1086/289743

By:

Sesardic, Neven

Publication type:

Article

Hypertrophic olivary degeneration after resection of a cerebellar tumor.

Published in:

Journal of Neuro-Oncology, 2008, v. 87, n. 3, p. 341, doi. 10.1007/s11060-008-9523-7

By:

Serra Akar;
Jan Drappatz;
Liangge Hsu;
Russell Blinder;
Peter Black;
Santosh Kesari

Publication type:

Article

Long-term evaluation of retinal function in Prph2Rd2/Rd2 mice following AAV-mediated gene replacement therapy.

Published in:

Journal of Gene Medicine, 2003, v. 5, n. 9, p. 757

By:

Frank C. Schlichtenbrede;
Lyndon da Cruz;
Clare Stephens;
Alexander J. Smith;
Anastasios Georgiadis;
Adrian J. Thrasher;
James W. B. Bainbridge;
Mathias W. Seeliger

Publication type:

Article

Purificar la nación: eugenesia, higiene y renovación moral-racial de la periferia del Caribe colombiano, 1900-1930.

Published in:

Revista de Estudios Sociales, 2007, n. 27, p. 62, doi. 10.7440/res27.2007.04

By:

McGraw, Jason

Publication type:

Article

RAZA, ALTERIDAD Y EXCLUSIÓN EN ALEMANIA DURANTE LA DÉCADA DE 1920.

Published in:

Revista de Estudios Sociales, 2007, n. 26, p. 126

By:

Cuéllar, Alejandro Castillejo

Publication type:

Article

FACE Facts: Why Human Genetics Will Always Provoke Bioethics.

Published in:

Journal of Law, Medicine & Ethics, 2004, v. 32, n. 2, p. 267, doi. 10.1111/j.1748-720X.2004.tb00473.x

By:

Juengst, Eric T.

Publication type:

Article

Genetic uniqueness of the Waorani tribe from the Ecuadorian Amazon.

Published in:

Heredity, 2012, v. 108, n. 6, p. 609, doi. 10.1038/hdy.2011.131

By:

Cardoso, S;
Alfonso-Sánchez, M A;
Valverde, L;
Sánchez, D;
Zarrabeitia, M T;
Odriozola, A;
Martínez-Jarreta, B;
de Pancorbo, M M

Publication type:

Article

'I don't see any point in telling them': attitudes to sharing genetic information in the family and carrier testing of relatives among British Pakistani adults referred to a genetics clinic.

Published in:

Ethnicity & Health, 2009, v. 14, n. 2, p. 205, doi. 10.1080/13557850802071140

By:

Shaw, Alison;
Hurst, JaneA.

Publication type:

Article

Who Should Pay for Bad Genes?

Published in:

California Law Review, 2002, v. 90, n. 5, p. 1345, doi. 10.2307/3481359

By:

Rakowski, Eric

Publication type:

Article

City Welfare in the Sway of Eugenics: A Swiss Case Study.

Published in:

British Journal of Social Work, 2008, v. 38, n. 4, p. 751, doi. 10.1093/bjsw/bcn019

By:

Hauss, Gisela;
Ziegler, Béatrice

Publication type:

Article

Post-natal induction of PGC-1α protects against severe muscle dystrophy independently of utrophin.

Published in:

Skeletal Muscle, 2014, v. 4, n. 1, p. 1, doi. 10.1186/2044-5040-4-2

By:

Mun Chun Chan;
Rowe, Glenn C.;
Raghuram, Srilatha;
Patten, Ian S.;
Farrell, Caitlin;
Arany, Zolt

Publication type:

Article

Level of muscle regeneration in limb-girdle muscular dystrophy type 2I relates to genotype and clinical severity.

Published in:: Skeletal Muscle, 2011, v. 1, n. 1, p. 31, doi. 10.1186/2044-5040-1-31
Publication type:: Article

Muscle atrophy induced by SOD1G93A expression does not involve the activation of caspase in the absence of denervation.

Published in:

Skeletal Muscle, 2011, v. 1, n. 1, p. 1, doi. 10.1186/2044-5040-1-3

By:

Dobrowolny, Gabriella;
Aucello, Michela;
Musarò, Antonio

Publication type:

Article

STIM1 as a key regulator for Ca2+ homeostasis in skeletal-muscle development and function.

Published in:

Skeletal Muscle, 2011, v. 1, n. 1, p. 2, doi. 10.1186/2044-5040-1-16

By:

Kiviluoto, Santeri;
Decuypere, Jean-Paul;
De Smedt, Humbert;
Missiaen, Ludwig;
Parys, Jan B.;
Bultynck, Geert

Publication type:

Article

Double trouble.

Published in:

2013

By:

Jobling, Mark A.

Publication type:

Opinion

RADIATION PROBLEMS.

Published in:: Bulletin of the Atomic Scientists, 1958, v. 14, n. 8, p. 331
Publication type:: Article