Works matching DE "HUMAN heredity"

Results: 370

Familial risks of hospitalization for Parkinson’s disease in first-degree relatives: a nationwide follow-up study from Sweden.

Published in:

Neurogenetics, 2006, v. 7, n. 4, p. 231, doi. 10.1007/s10048-006-0055-z

By:

Sundquist, Kristina;
Xinjun Li;
Hemminki, Kari

Publication type:

Article

Long-term evaluation of retinal function in Prph2<sup>Rd2/Rd2</sup> 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

Genotyping microarray (gene chip) for the ABCR (ABCA4) gene(Communicated by Michael Dean).

Published in:

Human Mutation, 2003, v. 22, n. 5, p. 395, doi. 10.1002/humu.10263

By:

K. Jaakson;
J. Zernant;
M. Külm;
A. Hutchinson;
N. Tonisson;
D. Glavač;
M. Ravnik-Glavač;
M. Hawlina;
M.R. Meltzer;
R.C. Caruso;
F. Testa;
A. Maugeri;
C.B. Hoyng;
P. Gouras;
F. Simonelli;
R.A. Lewis;
J.R. Lupski;
F.P.M. Cremers

Publication type:

Article

Genetic links for scattered Jews.

Published in:

Nature, 1985, p. 208, doi. 10.1038/314208a0

By:

Meyers, Nechemia

Publication type:

Article

Challenging the genetically homogeneous individual.

Published in:

2004

By:

Pineda-Krch, M.;
Lehtilä, K.

Publication type:

Editorial

Non-mydriatic Digital Macular Photography: How Good is the Second Eye Photograph?

Published in:

Ophthalmic Epidemiology, 2009, v. 16, n. 4, p. 254, doi. 10.1080/09286580902864419

By:

Aung, Khin Zaw;
Robman, Luba;
English, Dallas R.;
Giles, Graham G.;
Guymer, Robyn H.

Publication type:

Article

Adult orbital xanthogranulomatous disease: adult-onset xanthogranuloma of periorbital location.

Published in:

Clinical & Experimental Dermatology, 2011, v. 36, n. 6, p. 628, doi. 10.1111/j.1365-2230.2011.04041.x

By:

Minami-Hori, M.;
Takahashi, I.;
Honma, M.;
Ito, Y.;
Takahashi, H.;
Ishida-Yamamoto, A.;
Iizuka, H.

Publication type:

Article

Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene.

Published in:

Clinical & Experimental Dermatology, 2006, v. 31, n. 5, p. 695, doi. 10.1111/j.1365-2230.2006.02165.x

By:

Wali, A.;
Ansar, M.;
Khan, M. N.;
Ahmad, W.

Publication type:

Article

Penile colloid degeneration.

Published in:

Clinical & Experimental Dermatology, 2006, v. 31, n. 5, p. 674, doi. 10.1111/j.1365-2230.2006.02196.x

By:

Preston, P. W.;
Orpin, S. D.;
Muc, R.;
Zaki, I.

Publication type:

Article

Prenatal traces of aberrant neurofacial growth.

Published in:

Acta Odontologica Scandinavica, 1998, v. 56, n. 6, p. 326, doi. 10.1080/000163598428257

By:

Kjaer, Inger

Publication type:

Article

A comprehensive approach to haplotype-specific analysis by penalized likelihood.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 1, p. 95, doi. 10.1038/ejhg.2009.118

By:

Jung-Ying Tzeng;
Bondell, Howard D.

Publication type:

Article

APOC3 deficiency: from mice to man.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 1, p. 1, doi. 10.1038/ejhg.2009.126

By:

Hofker, Marten H.

Publication type:

Article

Public interest in predictive genetic testing, including direct-to-consumer testing, for susceptibility to major depression: preliminary findings.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 1, p. 47, doi. 10.1038/ejhg.2009.138

By:

Wilde, Alex;
Meiser, Bettina;
Mitchell, Philip B.;
Schofield, Peter R.

Publication type:

Article

Comparing population structure as inferred from genealogical versus genetic information.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1635, doi. 10.1038/ejhg.2009.97

By:

Colonna, Vincenza;
Nutile, Teresa;
Ferrucci, Ronald R;
Fardella, Giulio;
Aversano, Mario;
Barbujani, Guido;
Ciullo, Marina

Publication type:

Article

Testing informative missingness in genetic studies using case–parent triads.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 8, p. 992, doi. 10.1038/ejhg.2008.38

By:

Guo, Chao-Yu;
Cupples, Laura Adrienne;
Yang, Qiong

Publication type:

Article

Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 7, p. 831, doi. 10.1038/sj.ejhg.5201617

By:

Thomas, N. Simon;
Durkie, Miranda;
Potts, Gemma;
Sandford, Richard;
Van Zyl, Berendine;
Youings, Sheila;
Dennis, Nicholas R.;
Jacobs, Patricia A.

Publication type:

Article

Mutations including the promoter region of myocilin/TIGR gene.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 3, p. 384, doi. 10.1038/sj.ejhg.5201299

By:

Saura, Maria;
Cabana, Montse;
Ayuso, Carmen;
Valverde, Diana

Publication type:

Article

Evolutionary Genetics: The human brain-adaptation at many levels.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 520, doi. 10.1038/sj.ejhg.5201401

By:

Oldham, Michael C.;
Geschwind, Daniel H.

Publication type:

Article

Cascade testing in familial hypercholesterolaemia: how should family members be contacted?

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 4, p. 401, doi. 10.1038/sj.ejhg.5201360

By:

Newson, Ainsley J.;
Humphries, Steve E.

Publication type:

Article

Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 3, p. 283, doi. 10.1038/sj.ejhg.5201267

By:

Barber, John C.K.;
Thomas, N. Simon;
Collinson, Morag N.;
Dennis, Nick R.;
Liehr, Thomas;
Weise, Anja;
Belitz, Britta;
Pfeiffer, Lutz;
Kirchhoff, Maria;
Krag-Olsen, Bente;
Lundsteen, Claes

Publication type:

Article

Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 3, p. 309, doi. 10.1038/sj.ejhg.5201268

By:

Eggermann, Thomas;
Zerres, Klaus;
Anhuf, Dirk;
Kotzot, Dieter;
Fauth, Christine;
Rudnik-Schöneborn, Sabine

Publication type:

Article

FHR-4A: a new factor H-related protein is encoded by the human FHR-4 gene.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 3, p. 321, doi. 10.1038/sj.ejhg.5201324

By:

Józsi, Mihály;
Richter, Heiko;
Löschmann, Ina;
Skerka, Christine;
Buck, Friedrich;
Beisiegel, Ulrike;
Erdei, Anna;
Zipfel, Peter F.

Publication type:

Article

A genomewide linkage analysis for prostate cancer susceptibility genes in families from Germany.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 3, p. 352, doi. 10.1038/sj.ejhg.5201333

By:

Maier, Christiane;
Herkommer, Kathleen;
Hoegel, Josef;
Vogel, Walther;
Paiss, Thomas

Publication type:

Article

Introduction.

Published in:

European Journal of Human Genetics, 2003, v. 11, p. S1, doi. 10.1038/sj.ejhg.5201109

By:

Aymé, Ségolène

Publication type:

Article

Clinical and molecular analysis of nine families with Adams-Oliver syndrome.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 6, p. 457, doi. 10.1038/sj.ejhg.5200980

By:

Verdyck, Pieter;
Holder-Espinasse, Muriel;
Hul, Wim Van;
Wuyts, Wim

Publication type:

Article

Association of Pontine Small Infarction (Lacuna) with Disturbance of Postural Stability.

Published in:

European Neurology, 2004, v. 51, n. 3, p. 138, doi. 10.1159/000077064

By:

Nagahori, T.;
Hirashima, Y.;
Umemura, K.;
Nakagawa, H.;
Kamisaki, Y.;
Origasa, H.;
Endo, S.

Publication type:

Article

Lower Limb Corticobasal Degeneration.

Published in:

European Neurology, 2000, v. 44, n. 4, p. 248, doi. 10.1159/000008245

By:

Lalive, Patrice H.;
Personeni, Orlando;
Slosman, Daniel O.;
Landis, Theodor;
Burkhard, Pierre R.

Publication type:

Article

SIRT1 overexpression ameliorates a mouse model of SOD1-linked amyotrophic lateral sclerosis via HSF1/HSP70i chaperone system.

Published in:

Molecular Brain, 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13041-014-0062-1

By:

Seiji Watanabe;
Natsumi Ageta-Ishihara;
Shinji Nagatsu;
Keizo Takao;
Okiru Komine;
Fumito Endo;
Tsuyoshi Miyakawa;
Hidemi Misawa;
Ryosuke Takahashi;
Makoto Kinoshita;
Koji Yamanaka

Publication type:

Article

Grammatical evolution decision trees for detecting gene-gene interactions.

Published in:

BioData Mining, 2010, v. 3, p. 8, doi. 10.1186/1756-0381-3-8

By:

Motsinger-Reif, Alison A.;
Deodhar, Sushamna;
Winham, Stacey J.;
Hardison, Nicholas E.

Publication type:

Article

Identification of a novel mutation in FGFR1 gene in patients with Kallmann syndrome by high throughput sequencing.

Published in:

Systems Biology in Reproductive Medicine, 2018, v. 64, n. 3, p. 202, doi. 10.1080/19396368.2018.1458919

By:

Jin, Bao-Fang;
Ji, Zhi-Yong;
Su, Zhi-Ying;
Mei, Li-Bin;
Huang, Xian-Jing;
Lin, Shao-Bin;
Li, Ping;
Sha, Yan-Wei

Publication type:

Article

Sequential imaging analysis using MIBG scintigraphy revealed progressive degeneration of cardiac sympathetic nerve in Parkinson's disease.

Published in:

European Journal of Neurology, 2011, v. 18, n. 7, p. 1010, doi. 10.1111/j.1468-1331.2010.03211.x

By:

Watanabe, M.;
Takeda, T.;
Nakamagoe, K.;
Tamaoka, A.

Publication type:

Article

Corticolimbic gray matter loss in Parkinson’s disease without dementia.

Published in:

European Journal of Neurology, 2010, v. 17, n. 8, p. 1090, doi. 10.1111/j.1468-1331.2010.02980.x

By:

Nishio, Y.;
Hirayama, K.;
Takeda, A.;
Hosokai, Y.;
Ishioka, T.;
Suzuki, K.;
Itoyama, Y.;
Takahashi, S.;
Mori, E.

Publication type:

Article

HETEROZYGOSIS IN MAN AS THE SUPPOSED GENETICAL BASIS OF INCLINATION TO TUBERCULOSIS.

Published in:

Acta Zoologica, 1923, v. 4, p. 111, doi. 10.1111/j.1463-6395.1923.tb00160.x

By:

Bonnier, Gert

Publication type:

Article

Recombinase-activating gene 1 immunodeficiency: different immunological phenotypes in three siblings.

Published in:

Acta Paediatrica, 2009, v. 98, n. 6, p. 1062, doi. 10.1111/j.1651-2227.2009.01250.x

By:

Pasic, Srdjan;
Djuricic, Slavisa;
Ristic, Goran;
Slavkovic, Bojana

Publication type:

Article

The Utilization of Imaging Features in the Management of Intraductal Papillary Mucinous Neoplasms.

Published in:

Gastroenterology Research & Practice, 2014, p. 1, doi. 10.1155/2014/765451

By:

Palmucci, Stefano;
Trombatore, Claudia;
Foti, Pietro Valerio;
Mauro, Letizia Antonella;
Milone, Pietro;
Milazzotto, Roberto;
Latino, Rosalia;
Bonanno, Giacomo;
Petrillo, Giuseppe;
Di Cataldo, Antonio

Publication type:

Article

Genetic testing goes DTC.

Published in:: Marketing Health Services, 2002, v. 22, n. 3, p. 9
Publication type:: Article

Blame your genes, but not your copy numbers.

Published in:: Nature Medicine, 2010, v. 16, n. 5, p. 526, doi. 10.1038/nm0510-526
Publication type:: Article

Conventional wisdom.

Published in:: 2010
Publication type:: Editorial

Research highlights.

Published in:: Nature Genetics, 2010, v. 42, n. 5, p. 371, doi. 10.1038/ng0510-371
Publication type:: Article

The sex-specific genetic architecture of quantitative traits in humans.

Published in:

Nature Genetics, 2006, v. 38, n. 2, p. 218, doi. 10.1038/ng1726

By:

Weiss, Lauren A.;
Lin Pan;
Abney, Mark;
Ober, Carole

Publication type:

Article

Shocking degeneration.

Published in:

Nature Genetics, 2004, v. 36, n. 6, p. 547, doi. 10.1038/ng0604-547

By:

Benndorf, Rainer;
Welsh, Michael J.

Publication type:

Article

Familial retrocaecal appendicitis.

Published in:

Journal of the Royal Society of Medicine, 1986, v. 79, n. 7, p. 405, doi. 10.1177/014107688607900708

By:

Shperber, Y.;
Halevy, A.;
Oland, J.;
Orda, R.

Publication type:

Article

Chondrogenic Differentiation of Bone Marrow Mesenchymal Stem Cells. First Successful Latin-American Report.

Published in:

International Journal of Morphology, 2010, v. 28, n. 3, p. 749, doi. 10.4067/S0717-95022010000300014

By:

Mardones, Rodrigo;
Martínez, Rafael;
Paredes, María Jose;
Zalaquett, Eugenio

Publication type:

Article

Can Formaldehyde Exposure Induce Histopathologic and Morphometric Changes on Rat Kidney?

Published in:

International Journal of Morphology, 2009, v. 27, n. 4, p. 1195, doi. 10.4067/S0717-95022009000400037

By:

Golalipour, Mohammad Jafar;
Azarhoush, Ramin;
Ghafari, Soraya;
Davarian, Ali;
Fazeli, Sayyed Amir hossien

Publication type:

Article

Effect of pathology type and severity on the distribution of MRI signal intensities within the degenerated nucleus pulposus: application toidiopathic scoliosis and spondylolisthesis.

Published in:

BMC Musculoskeletal Disorders, 2010, v. 11, p. 189, doi. 10.1186/1471-2474-11-189

By:

Périé, Delphine;
Curnier, Daniel

Publication type:

Article

Decay of linkage disequilibrium within genes across HGDP-CEPH human samples: most population isolates do not show increased LD.

Published in:

BMC Genomics, 2009, v. 10, p. 338, doi. 10.1186/1471-2164-10-338

By:

Bosch, Elena;
Laayouni, Hafid;
Morcillo-Suarez, Carlos;
Casals, Ferran;
Moreno-Estrada, Andrés;
Ferrer-Admetlla, Anna;
Gardner, Michelle;
Rosa, Araceli;
Navarro, Arcadi;
Comas, David;
Graffelman, Jan;
Calafell, Francesc;
Bertranpetit, Jaume

Publication type:

Article

Homocysteine & its metabolite homocysteine-thiolactone & deficiency of copper in patients with age related macular degeneration - A pilot study.

Published in:

Indian Journal of Medical Research, 2016, v. 143, n. 6, p. 756, doi. 10.4103/0971-5916.192026

By:

Bharathselvi, Muthuvel;
Biswas, Sayantan;
Raman, Rajiv;
Selvi, Radhakrishnan;
Coral, Karunakaran;
Narayanansamy, Angayarkanni;
Ramakrishnan, Sivaramakrishnan;
Sulochana, Konerirajapuram N.

Publication type:

Article

Genetics could help explain chronic pelvic pain.

Published in:

Urology Times, 2006, v. 34, n. 3, p. 5

By:

Allen, Penny

Publication type:

Article

UTI susceptibility may be the fault of heredity.

Published in:

Urology Times, 2001, v. 29, n. 7, p. 18

By:

Taggart, Martha

Publication type:

Article

Front & Back Matter.

Published in:: Cytogenetic & Genome Research, 2012, v. 136, n. 2, p. X, doi. 10.1159/000337635
Publication type:: Article