Works matching DE "HUMAN genetic variation"

Results: 5000

Risk of Pancreatic Cancer Linked to Variation in Gene That Determines Blood Type.

Published in:: Oncology (08909091), 2009, v. 23, n. 10, p. 860
Publication type:: Article

The estrogen receptor 1 G594A polymorphism is associated with migraine susceptibility in two independent case/control groups.

Published in:

Neurogenetics, 2004, v. 5, n. 2, p. 129, doi. 10.1007/s10048-004-0181-4

By:

Colson, Natalie J.;
Lea, Rod A.;
Quinlan, Sharon;
MacMillan, John;
Griffiths, Lyn R.

Publication type:

Article

Trimeric structure and flexibility of the L1ORF1 protein in human L1 retrotransposition.

Published in:

Nature Structural & Molecular Biology, 2011, v. 18, n. 9, p. 1006, doi. 10.1038/nsmb.2097

By:

Khazina, Elena;
Truffault, Vincent;
Büttner, Regina;
Schmidt, Steffen;
Coles, Murray;
Weichenrieder, Oliver

Publication type:

Article

Symbiotic conversations are revealed under genetic interrogation.

Published in:

Nature Reviews Microbiology, 2008, v. 6, n. 10, p. 752, doi. 10.1038/nrmicro1958

By:

Ruby, Edward G.

Publication type:

Article

Charcot Marie Tooth disease 2F and a novel mutation from India.

Published in:

2018

By:

Ghodasara, Malay K.;
Sankhla, Charulata S.;
Lovhale, Nitin S.;
Borse, Sandip T.

Publication type:

Case Study

Deconstructing genomic plasticity in the early human embryo: transposable elements having their way!

Published in:

Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 9, p. 2225, doi. 10.1007/s10815-024-03247-x

By:

Albertini, David F.

Publication type:

Article

Mapping of long interspersed element-1 (L1) insertions by TIPseq provides information about sub chromosomal genetic variation in human embryos.

Published in:

Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 9, p. 2257, doi. 10.1007/s10815-024-03176-9

By:

Kohlrausch, Fabiana B.;
Wang, Fang;
McKerrow, Wilson;
Grivainis, Mark;
Fenyo, David;
Keefe, David L.

Publication type:

Article

Transposon insertion profiling by sequencing (TIPseq) identifies novel LINE-1 insertions in human sperm.

Published in:

Journal of Assisted Reproduction & Genetics, 2023, v. 40, n. 8, p. 1835, doi. 10.1007/s10815-023-02852-6

By:

Berteli, Thalita S.;
Wang, Fang;
McKerrow, Wilson;
Navarro, Paula A.;
Fenyo, David;
Boeke, Jef D.;
Kohlrausch, Fabiana B.;
Keefe, David L.

Publication type:

Article

Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency.

Published in:

Journal of Assisted Reproduction & Genetics, 2019, v. 36, n. 1, p. 39, doi. 10.1007/s10815-018-1349-4

By:

Yang, Xiang;
Touraine, Philippe;
Desai, Swapna;
Humphreys, Gregory;
Jiang, Huaiyang;
Yatsenko, Alexander;
Rajkovic, Aleksandar

Publication type:

Article

Gonadotropin receptor variants are linked to cumulative live birth rate after in vitro fertilization.

Published in:

Journal of Assisted Reproduction & Genetics, 2019, v. 36, n. 1, p. 29, doi. 10.1007/s10815-018-1318-y

By:

Lindgren, I.;
Nenonen, H.;
Henic, E.;
Bungum, L.;
Prahl, A.;
Bungum, M.;
Leijonhufvud, I.;
Huhtaniemi, I.;
Yding Andersen, C.;
Lundberg Giwercman, Y.

Publication type:

Article

Genetic and epigenetic variations associated with idiopathic recurrent pregnancy loss.

Published in:

Journal of Assisted Reproduction & Genetics, 2018, v. 35, n. 3, p. 355, doi. 10.1007/s10815-017-1108-y

By:

Arias-Sosa, Luis Alejandro;
Acosta, Iván Darío;
Lucena-Quevedo, Elkin;
Moreno-Ortiz, Harold;
Esteban-Pérez, Clara;
Forero-Castro, Maribel

Publication type:

Article

Genetic variation in matrix metalloproteinase MMP2 and MMP9 as a risk factor for idiopathic recurrent spontaneous abortions in an Indian population.

Published in:

Journal of Assisted Reproduction & Genetics, 2017, v. 34, n. 7, p. 945, doi. 10.1007/s10815-017-0939-x

By:

Ramu, Deepika;
Venkatesan, Vettriselvi;
Paul, Solomon;
Koshy, Teena

Publication type:

Article

Susceptibility of gr/gr rearrangements to azoospermia or oligozoospermia is dependent on DAZ and CDY1 gene copy deletions.

Published in:

Journal of Assisted Reproduction & Genetics, 2015, v. 32, n. 9, p. 1333, doi. 10.1007/s10815-015-0520-4

By:

Sen, S.;
Ambulkar, P.;
Hinduja, I.;
Zaveri, K.;
Gokral, J.;
Pal, A.;
Modi, D.

Publication type:

Article

Association of WNT4 polymorphisms with endometriosis in infertile patients.

Published in:

Journal of Assisted Reproduction & Genetics, 2015, v. 32, n. 9, p. 1359, doi. 10.1007/s10815-015-0523-1

By:

Mafra, Fernanda;
Catto, Michele;
Bianco, Bianca;
Barbosa, Caio;
Christofolini, Denise

Publication type:

Article

Lack of association between genetic polymorphisms in three folate-related enzyme genes and male infertility in the Chinese population.

Published in:

Journal of Assisted Reproduction & Genetics, 2015, v. 32, n. 3, p. 369, doi. 10.1007/s10815-014-0423-9

By:

Ni, Wuhua;
Li, Haiyan;
Wu, Aihua;
Zhang, Peili;
Yang, Haiyan;
Yang, Xu;
Huang, Xuefeng;
Jiang, Lei

Publication type:

Article

BRCA1 alterations are associated with endometriosis, but BRCA2 alterations show no detectable endometriosis risk: a study in Indian population.

Published in:

Journal of Assisted Reproduction & Genetics, 2015, v. 32, n. 2, p. 277, doi. 10.1007/s10815-014-0379-9

By:

Govatati, Suresh;
Challa, Kiran;
Reddy, Sunita;
Pramod, Kayathi;
Deenadayal, Mamata;
Chakravarty, Baidyanath;
Shivaji, Sisinthy;
Bhanoori, Manjula

Publication type:

Article

Study of single nucleotide polymorphism ( rs28368082) in SPO11 gene and its association with male infertility.

Published in:

Journal of Assisted Reproduction & Genetics, 2014, v. 31, n. 9, p. 1205, doi. 10.1007/s10815-014-0279-z

By:

Ghalkhani, Esmat;
Sheidai, Masoud;
Gourabi, Hamid;
Noormohammadi, Zahra;
Bakhtari, Narjes;
Malekasgar, Ali

Publication type:

Article

Association of MOV10L1 gene polymorphisms and male infertility in azoospermic men with complete maturation arrest.

Published in:

Journal of Assisted Reproduction & Genetics, 2014, v. 31, n. 7, p. 865, doi. 10.1007/s10815-014-0240-1

By:

Sarkardeh, Homa;
Totonchi, Mehdi;
Asadpour, Ommolbanin;
Sadighi Gilani, Mohammad;
Zamani Esteki, Masoud;
Almadani, Navid;
Borjian Boroujeni, Parnaz;
Gourabi, Hamid

Publication type:

Article

Peroxisome proliferator activated receptor gamma gene variants influence susceptibility and insulin related traits in Indian women with polycystic ovary syndrome.

Published in:

Journal of Assisted Reproduction & Genetics, 2013, v. 30, n. 7, p. 913, doi. 10.1007/s10815-013-0025-y

By:

Shaikh, Nuzhat;
Mukherjee, Ankur;
Shah, Nalini;
Meherji, Pervin;
Mukherjee, Srabani

Publication type:

Article

LH receptor gene expression in cumulus cells in women entering an ART program.

Published in:

Journal of Assisted Reproduction & Genetics, 2012, v. 29, n. 5, p. 409, doi. 10.1007/s10815-012-9729-7

By:

Papamentzelopoulou, Myrto;
Mavrogianni, Despina;
Partsinevelos, George;
Marinopoulos, Spyros;
Dinopoulou, Vasiliki;
Theofanakis, Charalampos;
Anagnostou, Elli;
Loutradis, Dimitris

Publication type:

Article

A chromosome 19 locus positively influences the number of retrieved oocytes during stimulated cycles in Brazilian women.

Published in:

Journal of Assisted Reproduction & Genetics, 2012, v. 29, n. 5, p. 443, doi. 10.1007/s10815-012-9735-9

By:

Setti, Amanda;
Cortezzi, Sylvia;
Figueira, Rita;
Martinhago, Ciro;
Braga, Daniela;
Iaconelli, Assumpto;
Borges, Edson

Publication type:

Article

Aromatase ( CYP19) gene variants influence ovarian response to standard gonadotrophin stimulation.

Published in:

Journal of Assisted Reproduction & Genetics, 2012, v. 29, n. 2, p. 203, doi. 10.1007/s10815-011-9673-y

By:

Lazaros, Leandros;
Hatzi, Elissavet;
Xita, Nectaria;
Makrydimas, Georgios;
Kaponis, Apostolos;
Takenaka, Atsushi;
Kosmas, Ioannis;
Sofikitis, Nikolaos;
Stefos, Theodoros;
Zikopoulos, Konstantinos;
Georgiou, Ioannis

Publication type:

Article

Developing a translational murine‐to‐canine pathway for an IL‐2/agonist anti‐CD40 antibody cancer immunotherapy.

Published in:

Veterinary & Comparative Oncology, 2022, v. 20, n. 3, p. 602, doi. 10.1111/vco.12813

By:

Proksch, Stephen Francis;
Matthysen, Clinton Petrus;
Jardine, John E.;
Wyatt, Ken Mark;
Finlay, Jessica Renee;
Nelson, Delia Jane

Publication type:

Article

The Politics of Replacement: Demographic Fears, Conspiracy Theories and Race Wars.

Published in:

2024

By:

Sear, Rebecca

Publication type:

Book Review

The Journey of Humanity by Oded Galor: A Review Essay.

Published in:

Population & Development Review, 2023, v. 49, n. 2, p. 403, doi. 10.1111/padr.12566

By:

Durlauf, Steven N.

Publication type:

Article

Trends in Next-Gen Sequencing Adoption.

Published in:

Bio-IT World, 2010, v. 9, n. 5, p. 10

By:

DOIG, AL

Publication type:

Article

International Blue Genes.

Published in:

Bio-IT World, 2008, v. 7, n. 7, p. 23

By:

Davies, Kevin

Publication type:

Article

Ten Billion Genotypes.

Published in:

Bio-IT World, 2008, v. 7, n. 7, p. 16

By:

Davies, Kevin

Publication type:

Article

Why Variety Is the Spice of Life.

Published in:

Bio-IT World, 2006, v. 5, n. 5, p. 16

By:

O'Neill, Graeme

Publication type:

Article

HapMap Project Prepares for Phase II Release.

Published in:

Bio-IT World, 2006, v. 5, n. 5, p. 19

By:

Davies, Kevin

Publication type:

Article

Questions of Science and Progress.

Published in:

Bio-IT World, 2005, v. 4, n. 9, p. 4

By:

Davies, Kevin

Publication type:

Article

DeCODE's Report on Cardiac Gene Study Causes a FLAP.

Published in:

Bio-IT World, 2004, v. 3, n. 3, p. 14

By:

Davies, Kevin

Publication type:

Article

Computational graph pangenomics: a tutorial on data structures and their applications.

Published in:

Natural Computing, 2022, v. 21, n. 1, p. 81, doi. 10.1007/s11047-022-09882-6

By:

Baaijens, Jasmijn A.;
Bonizzoni, Paola;
Boucher, Christina;
Della Vedova, Gianluca;
Pirola, Yuri;
Rizzi, Raffaella;
Sirén, Jouni

Publication type:

Article

Foreword: sex and sex chromosomes-new clues from nonmodel species.

Published in:

2012

By:

Ezaz, Tariq;
Graves, Jennifer

Publication type:

Editorial

Genetic variation in a haplotype block spanning IDE influences Alzheimer disease(Communicated by Richard G. H. Cotton).

Published in:

Human Mutation, 2003, v. 22, n. 5, p. 363, doi. 10.1002/humu.10282

By:

Jonathan A. Prince;
Lars Feuk;
Harvest F. Gu;
Boo Johansson;
Margaret Gatz;
Kaj Blennow;
Anthony J. Brookes

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

The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria.

Published in:

Urological Research, 2004, v. 32, n. 2, p. 75, doi. 10.1007/s00240-004-0405-y

By:

Schmidt, Christa;
Vester, Udo;
Hesse, Albrecht;
Lahme, Sven;
Lang, Florian;
Zerres, Klaus;
Eggermann, Thomas

Publication type:

Article

Selective sweeps for recessive alleles and for other modes of dominance.

Published in:

Journal of Mathematical Biology, 2011, v. 63, n. 3, p. 399, doi. 10.1007/s00285-010-0382-4

By:

Ewing, G.;
Hermisson, J.;
Pfaffelhuber, P.;
Rudolf, J.

Publication type:

Article

Genetic variation of 17 X-chromosome STR loci in Tunisian population of Nabeul.

Published in:

International Journal of Legal Medicine, 2019, v. 133, n. 1, p. 85, doi. 10.1007/s00414-018-1827-3

By:

Messoussi, Monia;
Prieto-Fernández, Endika;
Baeta, Miriam;
Núñez, Carolina;
Gaaied, Amel Ben Ammar-El;
de Pancorbo, Marian M.;
Fadhlaoui-Zid, Karima

Publication type:

Article

Genetic diagnosis of acute aortic dissection in South China Han population using next-generation sequencing.

Published in:

International Journal of Legal Medicine, 2018, v. 132, n. 5, p. 1273, doi. 10.1007/s00414-018-1890-9

By:

Huang, Lei;
Wu, Qiuping;
Yin, Kun;
Quan, Li;
Zhao, Qianhao;
Cheng, Jianding;
Zheng, Jinxiang;
Guo, Jian;
Wang, Lin;
Zhang, Tongda

Publication type:

Article

Genetic variation of 17 autosomal STR loci in the Dong ethnic minority from Guangxi Zhuang Autonomous Region, South China.

Published in:

International Journal of Legal Medicine, 2017, v. 131, n. 6, p. 1537, doi. 10.1007/s00414-017-1576-8

By:

Guo, Fei

Publication type:

Article

Genetic characterization of an X-STR decaplex system in the State of Mato Grosso, Brazil: distribution, forensic efficiency and population structure.

Published in:

International Journal of Legal Medicine, 2017, v. 131, n. 6, p. 1523, doi. 10.1007/s00414-017-1578-6

By:

Martins, Joyce;
Martins, Denise;
Oliveira-Brancati, Camila;
Martinez, Juliana;
Cicarelli, Regina;
Souza, Dorotéia

Publication type:

Article

Genetic variations of 15 autosomal and 17 Y-STR markers in Sindhi population of Pakistan.

Published in:

International Journal of Legal Medicine, 2017, v. 131, n. 5, p. 1239, doi. 10.1007/s00414-017-1544-3

By:

Perveen, Rukhsana;
Shahid, Ahmad;
Shafique, Muhammad;
Shahzad, Muhammad;
Husnain, Tayyab

Publication type:

Article

How many single nucleotide polymorphisms (SNPs) are needed to replace short tandem repeats (STRs) in forensic applications?

Published in:

International Journal of Legal Medicine, 2017, v. 131, n. 5, p. 1203, doi. 10.1007/s00414-017-1564-z

By:

Lee, Hyo-Jung;
Lee, Jae;
Jeong, Su;
Park, Mira

Publication type:

Article

Study of InDel genetic markers with forensic and ancestry informative interest in PALOP's immigrant populations in Lisboa.

Published in:

International Journal of Legal Medicine, 2017, v. 131, n. 3, p. 657, doi. 10.1007/s00414-016-1484-3

By:

Inácio, Ana;
Costa, Heloísa;
da Silva, Cláudia;
Ribeiro, Teresa;
Porto, Maria;
Santos, Jorge;
Igrejas, Gilberto;
Amorim, António

Publication type:

Article

Development of new PCR multiplex system by the simultaneous detection of 10 miniSTRs, SE33, Penta E, Penta D, and four Y-STRs.

Published in:

International Journal of Legal Medicine, 2016, v. 130, n. 6, p. 1409, doi. 10.1007/s00414-016-1372-x

By:

Shafique, Muhammad;
Rahman, Ziaur;
Shahid, Ahmad;
Husnain, Tayyab;
Shahzad, Muhammad;
Shan, Muhammad;
Perveen, Rukhsana;
Hussain, Manzoor

Publication type:

Article

The role of known variants of KCNQ1, KCNH2, KCNE1, SCN5A, and NOS1AP in water-related deaths.

Published in:

International Journal of Legal Medicine, 2016, v. 130, n. 6, p. 1575, doi. 10.1007/s00414-016-1424-2

By:

Tzimas, Iliana;
Zingraf, Jana-Christin;
Bajanowski, Thomas;
Poetsch, Micaela

Publication type:

Article

Inference of biogeographical ancestry across central regions of Eurasia.

Published in:

International Journal of Legal Medicine, 2016, v. 130, n. 1, p. 73, doi. 10.1007/s00414-015-1246-7

By:

Bulbul, O.;
Filoglu, G.;
Zorlu, T.;
Altuncul, H.;
Freire-Aradas, A.;
Söchtig, J.;
Ruiz, Y.;
Klintschar, M.;
Triki-Fendri, S.;
Rebai, A.;
Phillips, C.;
Lareu, M.;
Carracedo, Á.;
Schneider, P.

Publication type:

Article

Genetic variation of 12 X-chromosomal STR loci in an East Timor sample.

Published in:

International Journal of Legal Medicine, 2015, v. 129, n. 2, p. 257, doi. 10.1007/s00414-014-1126-6

By:

Moreira, Helena;
Costa, Helena;
Tavares, Filipa;
Souto, Luís

Publication type:

Article

Allele frequencies for 15 autosomal STRs in a population sample from the Federal District (Brazil)-a territory that arose from nothing.

Published in:

International Journal of Legal Medicine, 2014, v. 128, n. 5, p. 741, doi. 10.1007/s00414-013-0866-z

By:

Barra, Gustavo;
Santa Rita, Ticiane;
Chianca, Camilla;
Velasco, Lara;
Souza, Claudia

Publication type:

Article