Works matching DE "HUMAN chromosomes"

Results: 2320

LGI1: a gene involved in epileptogenesis and glioma progression?

Published in:

Neurogenetics, 2005, v. 6, n. 2, p. 59, doi. 10.1007/s10048-005-0216-5

By:

Gu, W.;
Brodtkorb, E.;
Piepoli, T.;
Finocchiaro, G.;
Steinlein, O.

Publication type:

Article

Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16.

Published in:

Neurogenetics, 2004, v. 5, n. 2, p. 109, doi. 10.1007/s10048-004-0175-2

By:

Djoussé, Luc;
Knowlton, Beth;
Hayden, Michael R.;
Almqvist, Elisabeth W.;
Brinkman, Ryan R.;
Ross, Christopher A.;
Margolis, Russel L.;
Rosenblatt, Adam;
Durr, Alexandra;
Dode, Catherine;
Morrison, Patrick J.;
Novelletto, Andrea;
Frontali, Marina;
Trent, Ronald J.A.;
McCusker, Elizabeth;
Gómez-Tortosa, Estrella;
Cabrero, David Mayo;
Jones, Randi;
Zanko, Andrea;
Nance, Martha

Publication type:

Article

Evidence of linkage and association on chromosome 20 for late-onset Alzheimer disease.

Published in:

Neurogenetics, 2004, v. 5, n. 2, p. 121, doi. 10.1007/s10048-004-0174-3

By:

Goddard, Katrina A.B.;
Olson, Jane M.;
Payami, Haydeh;
van der Voet, Monique;
Kuivaniemi, Helena;
Tromp, Gerard

Publication type:

Article

The spindle-assembly checkpoint and the beauty of self-destruction.

Published in:

Nature Structural & Molecular Biology, 2012, v. 19, n. 11, p. 1059, doi. 10.1038/nsmb.2429

By:

Musacchio, Andrea;
Ciliberto, Andrea

Publication type:

Article

Telomere length regulates TERRA levels through increased trimethylation of telomeric H3K9 and HP1?

Published in:

Nature Structural & Molecular Biology, 2012, v. 19, n. 9, p. 948, doi. 10.1038/nsmb.2364

By:

Arnoult, Nausica;
Van Beneden, Amandine;
Decottignies, Anabelle

Publication type:

Article

The three-dimensional folding of the α-globin gene domain reveals formation of chromatin globules.

Published in:

Nature Structural & Molecular Biology, 2011, v. 18, n. 1, p. 107, doi. 10.1038/nsmb.1936

By:

Baù, Davide;
Sanyal, Amartya;
Lajoie, Bryan R;
Capriotti, Emidio;
Byron, Meg;
Lawrence, Jeanne B;
Dekker, Job;
Marti-Renom, Marc A

Publication type:

Article

RNA polymerase III transcribes human microRNAs.

Published in:

Nature Structural & Molecular Biology, 2006, v. 13, n. 12, p. 1097, doi. 10.1038/nsmb1167

By:

Borchert, Glen M.;
Lanier, William;
Davidson, Beverly L.

Publication type:

Article

Chromatin, transcript elongation and alternative splicing.

Published in:

Nature Structural & Molecular Biology, 2006, v. 13, n. 1, p. 5, doi. 10.1038/nsmb0106-5

By:

Kornblihtt, Alberto R.

Publication type:

Article

Reproductive genetics at a crossroads: the challenges posed by hominid pregnancy loss.

Published in:

Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 5, p. 1125, doi. 10.1007/s10815-024-03142-5

By:

Albertini, David F.

Publication type:

Article

Regulating reproductive genetic services: dealing with spiral-shaped processes and techno-scientific imaginaries.

Published in:

Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 2, p. 305, doi. 10.1007/s10815-020-02017-9

By:

Alon, Ido;
Urbanos-Garrido, Rosa;
Guimón, José

Publication type:

Article

Next-generation sequencing analysis of each blastomere in good-quality embryos: insights into the origins and mechanisms of embryonic aneuploidy in cleavage-stage embryos.

Published in:

Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 7, p. 1711, doi. 10.1007/s10815-020-01803-9

By:

Shi, Qiuwen;
Qiu, Ying;
Xu, Changlong;
Yang, Hua;
Li, Chunyuan;
Li, Nina;
Gao, Yumei;
Yu, Caiyun

Publication type:

Article

Consequences of Y chromosome microdeletions beyond male infertility.

Published in:

Journal of Assisted Reproduction & Genetics, 2019, v. 36, n. 7, p. 1329, doi. 10.1007/s10815-019-01492-z

By:

Colaco, Stacy;
Modi, Deepak

Publication type:

Article

The Nsun7 (A11337)-deletion mutation, causes reduction of its protein rate and associated with sperm motility defect in infertile men.

Published in:

Journal of Assisted Reproduction & Genetics, 2015, v. 32, n. 5, p. 807, doi. 10.1007/s10815-015-0443-0

By:

Khosronezhad, Nahid;
Hosseinzadeh Colagar, Abasalt;
Mortazavi, Seyed

Publication type:

Article

Chromosomal characteristics at cleavage and blastocyst stages from the same embryos.

Published in:

Journal of Assisted Reproduction & Genetics, 2015, v. 32, n. 5, p. 781, doi. 10.1007/s10815-015-0450-1

By:

Huang, Jin;
Zhao, Nan;
Wang, Xiaozhu;
Qiao, Jie;
Liu, Ping

Publication type:

Article

Age-associated alterations in the micromechanical properties of chromosomes in the mammalian egg.

Published in:

Journal of Assisted Reproduction & Genetics, 2015, v. 32, n. 5, p. 765, doi. 10.1007/s10815-015-0453-y

By:

Hornick, Jessica;
Duncan, Francesca;
Sun, Mingxuan;
Kawamura, Ryo;
Marko, John;
Woodruff, Teresa

Publication type:

Article

Preimplantation genetic diagnosis (PGD) for SHOX-related haploinsufficiency in conjunction with trisomy 21 detection by molecular analysis.

Published in:

Journal of Assisted Reproduction & Genetics, 2011, v. 28, n. 3, p. 233, doi. 10.1007/s10815-010-9508-2

By:

Altarescu, Gheona;
Reish, Orit;
Renbaum, Paul;
Kasterstein, Ester;
Komarovsky, Dvorah;
Komsky, Alisa;
Bern, Orna;
Strassburger, Dvorah;
Levy-Lahad, Ephrat;
Ron-El, Raphael

Publication type:

Article

Evolution of New Genes Studied.

Published in:

Bio-IT World, 2005, v. 4, n. 3, p. 47

By:

Davies, Kevin

Publication type:

Article

Putting the Y in (Wise) Guy.

Published in:

Bio-IT World, 2003, v. 2, n. 8, p. 14

By:

Davies, Kevin

Publication type:

Article

Making a Genesweep: It's Official!

Published in:

Bio-IT World, 2003, v. 2, n. 7, p. 12

By:

Goodman, Laurie

Publication type:

Article

What's Next? Not the 'Post-Genomic' Era.

Published in:

Bio-IT World, 2003, v. 2, n. 4, p. 27

By:

Dodge, John

Publication type:

Article

PinX1 plays multifaceted roles in human cancers: a review and perspectives.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-10082-x

By:

You, Dian;
Tong, Kaiwen;
Li, Yuan;
Zhang, Ting;
Wu, Yongqiang;
Wang, Ling;
Chen, Guangming;
Zhang, Xiaoying

Publication type:

Article

Human artificial chromosome carrying 3p21.3-p22.2 region suppresses hTERT transcription in oral cancer cells.

Published in:

Chromosome Research, 2023, v. 31, n. 3, p. 1, doi. 10.1007/s10577-023-09726-8

By:

Ohira, Takahito;
Yoshimura, Kaho;
Kugoh, Hiroyuki

Publication type:

Article

Ellman's reagent prevents dephosphorylation of histones during isolation of mitotic chromosomes.

Published in:

Chromosome Research, 2022, v. 30, n. 4, p. 351, doi. 10.1007/s10577-022-09709-1

By:

Paulson, James R.;
Vander Mause, Erica R.;
Dillinger, Elizabeth;
Luedeman, Megan E.;
Usman, Bakhtawar

Publication type:

Article

Correction to: X-ray ptychography imaging of human chromosomes after low-dose irradiation.

Published in:

2021

By:

Bhartiya, Archana;
Batey, Darren;
Cipiccia, Silvia;
Shi, Xiaowen;
Rau, Christoph;
Botchway, Stanley;
Yusuf, Mohammed;
Robinson, Ian K.

Publication type:

Correction Notice

SOGA1 and SOGA2/MTCL1 are CLASP-interacting proteins required for faithful chromosome segregation in human cells.

Published in:

Chromosome Research, 2021, v. 29, n. 2, p. 159, doi. 10.1007/s10577-021-09651-8

By:

Ferreira, Luísa T.;
Logarinho, Elsa;
Macedo, Joana C.;
Maia, Ana Rita R.;
Maiato, Helder

Publication type:

Article

A novel method of male sex identification of human ancient skeletal remains.

Published in:

Chromosome Research, 2020, v. 28, n. 3/4, p. 277, doi. 10.1007/s10577-020-09634-1

By:

Navarro-Romero, María Teresa;
Muñoz, María de Lourdes;
Alcala-Castañeda, Enrique;
Terreros-Espinosa, Eladio;
Domínguez-de-la-Cruz, Eduardo;
García-Hernández, Normand;
Moreno-Galeana, Miguel Ángel

Publication type:

Article

X-ray Ptychography Imaging of Human Chromosomes After Low-dose Irradiation.

Published in:

Chromosome Research, 2021, v. 29, n. 1, p. 107, doi. 10.1007/s10577-021-09660-7

By:

Bhartiya, Archana;
Batey, Darren;
Cipiccia, Silvia;
Shi, Xiaowen;
Rau, Christoph;
Botchway, Stanley;
Yusuf, Mohammed;
Robinson, Ian K.

Publication type:

Article

Seeing chromosome structure reveals its function.

Published in:

2021

By:

Fukui, Kiichi;
Wako, Toshiyuki

Publication type:

Editorial

Imaging approaches for chromosome structures.

Published in:

Chromosome Research, 2021, v. 29, n. 1, p. 5, doi. 10.1007/s10577-021-09648-3

By:

Fukui, Kiichi;
Kato, Seiji

Publication type:

Article

Cellular and genomic approaches for exploring structural chromosomal rearrangements.

Published in:

Chromosome Research, 2020, v. 28, n. 1, p. 19, doi. 10.1007/s10577-020-09626-1

By:

Hu, Qing;
Maurais, Elizabeth G.;
Ly, Peter

Publication type:

Article

Dependence of the structure and mechanics of metaphase chromosomes on oxidized cysteines.

Published in:

Chromosome Research, 2016, v. 24, n. 3, p. 339, doi. 10.1007/s10577-016-9528-6

By:

Eastland, Adrienne;
Hornick, Jessica;
Kawamura, Ryo;
Nanavati, Dhaval;
Marko, John

Publication type:

Article

Visualization of the spatial positioning of the SNRPN, UBE3A, and GABRB3 genes in the normal human nucleus by three-color 3D fluorescence in situ hybridization.

Published in:

Chromosome Research, 2012, v. 20, n. 6, p. 659, doi. 10.1007/s10577-012-9300-5

By:

Kawamura, Rie;
Tanabe, Hideyuki;
Wada, Takahito;
Saitoh, Shinji;
Fukushima, Yoshimitsu;
Wakui, Keiko

Publication type:

Article

Non-specific (entropic) forces as major determinants of the structure of mammalian chromosomes.

Published in:

Chromosome Research, 2011, v. 19, n. 1, p. 53, doi. 10.1007/s10577-010-9150-y

By:

Finan, Kieran;
Cook, Peter;
Marenduzzo, Davide

Publication type:

Article

An extended river buffalo ( Bubalus bubalis , 2n = 50) cytogenetic map: assignment of 68 autosomal loci by FISH-mapping and R-banding and comparison with human chromosomes.

Published in:

Chromosome Research, 2008, v. 16, n. 6, p. 827, doi. 10.1007/s10577-008-1229-3

By:

G. Di Meo;
A. Perucatti;
S. Floriot;
H. Hayes;
L. Schibler;
D. Incarnato;
D. Di Berardino;
J. Williams;
E. Cribiu;
A. Eggen;
L. Iannuzzi

Publication type:

Article

Polymorphism and haplotype analysis of three novel short tandem repeat loci in the p11.4 region of human X chromosome.

Published in:

International Journal of Legal Medicine, 2022, v. 136, n. 2, p. 513, doi. 10.1007/s00414-021-02739-0

By:

Nishi, Takeki;
Fukui, Kenji;
Matumoto, Sari;
Takasu, Shojiro;
Iwadate, Kimiharu

Publication type:

Article

Combining results of forensic STR kits: HDplex validation including allelic association and linkage testing with NGM and Identifiler loci.

Published in:

International Journal of Legal Medicine, 2012, v. 126, n. 5, p. 781, doi. 10.1007/s00414-012-0724-4

By:

Westen, Antoinette;
Haned, Hinda;
Grol, Laurens;
Harteveld, Joyce;
Gaag, Kristiaan;
Knijff, Peter;
Sijen, Titia

Publication type:

Article

Functional genomics and SNP analysis of human genes encoding proline metabolic enzymes.

Published in:

Amino Acids, 2008, v. 35, n. 4, p. 655, doi. 10.1007/s00726-008-0107-9

By:

Chien-an Hu;
D. Bart Williams;
Siqin Zhaorigetu;
Shadi Khalil;
Guanghua Wan;
David Valle

Publication type:

Article

Angiotensin-Converting Enzyme I/D Polymorphism in Behçets Disease.

Published in:

Medical Principles & Practice, 2005, v. 14, n. 4, p. 213, doi. 10.1159/000085737

By:

S. Turgut;
G. Turgut;
E.Ö. Atalay;
A. Atalay

Publication type:

Article

ReMILO: reference assisted misassembly detection algorithm using short and long reads.

Published in:

Bioinformatics, 2018, v. 34, n. 1, p. 24, doi. 10.1093/bioinformatics/btx524

By:

Bao, Ergude;
Song, Changjin;
Lan, Lingxiao

Publication type:

Article

miniMDS: 3D structural inference from high-resolution Hi-C data.

Published in:

Bioinformatics, 2017, v. 33, n. 14, p. i261, doi. 10.1093/bioinformatics/btx271

By:

Rieber, Lila;
Mahony, Shaun

Publication type:

Article

Extending partial haplotypes to full genome haplotypes using chromosome conformation capture data.

Published in:

Bioinformatics, 2016, v. 32, n. 17, p. i559, doi. 10.1093/bioinformatics/btw453

By:

Ben-Elazar, Shay;
Chor, Benny;
Yakhini, Zohar

Publication type:

Article

Genome editing assessment using CRISPR Genome Analyzer (CRISPR-GA).

Published in:

Bioinformatics, 2014, v. 30, n. 20, p. 2968, doi. 10.1093/bioinformatics/btu427

By:

Güell, Marc;
Yang, Luhan;
Church, George M.

Publication type:

Article

Identification of deleterious synonymous variants in human genomes.

Published in:

Bioinformatics, 2013, v. 29, n. 15, p. 1843, doi. 10.1093/bioinformatics/btt308

By:

Buske, Orion J.;
Manickaraj, AshokKumar;
Mital, Seema;
Ray, Peter N.;
Brudno, Michael

Publication type:

Article

SVseq: an approach for detecting exact breakpoints of deletions with low-coverage sequence data.

Published in:

Bioinformatics, 2011, v. 27, n. 23, p. 3228, doi. 10.1093/bioinformatics/btr563

By:

Zhang, Jin;
Wu, Yufeng

Publication type:

Article

FLASH: fast length adjustment of short reads to improve genome assemblies.

Published in:

Bioinformatics, 2011, v. 27, n. 21, p. 2957, doi. 10.1093/bioinformatics/btr507

By:

Magoč, Tanja;
Salzberg, Steven L.

Publication type:

Article

The variant call format and VCFtools.

Published in:

Bioinformatics, 2011, v. 27, n. 15, p. 2156

By:

Danecek, Petr;
Auton, Adam;
Abecasis, Goncalo;
Albers, Cornelis A.;
Banks, Eric;
DePristo, Mark A.;
Handsaker, Robert E.;
Lunter, Gerton;
Marth, Gabor T.;
Sherry, Stephen T.;
McVean, Gilean;
Durbin, Richard

Publication type:

Article

Parsimony and likelihood reconstruction of human segmental duplications.

Published in:

Bioinformatics, 2010, v. 26, n. 18, p. i446, doi. 10.1093/bioinformatics/btq368

By:

Kahn, Crystal L.;
Hristov, Borislav H.;
Raphael, Benjamin J.

Publication type:

Article

A statistical method for the detection of variants from next-generation resequencing of DNA pools.

Published in:

Bioinformatics, 2010, v. 26, n. 12, p. i318, doi. 10.1093/bioinformatics/btq214

By:

Bansal, Vikas

Publication type:

Article

Detection and characterization of novel sequence insertions using paired-end next-generation sequencing.

Published in:

Bioinformatics, 2010, v. 26, n. 10, p. 1277, doi. 10.1093/bioinformatics/btq152

By:

Hajirasouliha, Iman;
Hormozdiari, Fereydoun;
Alkan, Can;
Kidd, Jeffrey M.;
Birol, Inanc;
Eichler, Evan E.;
Sahinalp, S. Cenk

Publication type:

Article

Predicting functional regulatory polymorphisms.

Published in:

Bioinformatics, 2008, v. 24, n. 16, p. 1787, doi. 10.1093/bioinformatics/btn311

By:

Ali Torkamani;
Nicholas J. Schork

Publication type:

Article