Works matching DE "HUMAN chromosome 15"

Results: 29

Segmental maternal heterodisomy of the proximal part of chromosome 15 in an infant with Prader-Willi syndrome.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 5, p. 411, doi. 10.1038/sj.ejhg.5201168

By:

Nazarenko, Sergey;
Sazhenova, Elena;
Baumer, Alessandra;
Schinzel, Albert

Publication type:

Article

PCR-generated padlock probes distinguish homologous chromosomes through quantitative fluorescence analysis.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 5, p. 357, doi. 10.1038/sj.ejhg.5200966

By:

Antson, Dan-Oscar;
Mendel-Hartvig, Maritha;
Landegren, Ulf;
Nilsson, Mats

Publication type:

Article

Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability.

Published in:

Nature Genetics, 2014, v. 46, n. 12, p. 1293, doi. 10.1038/ng.3120

By:

Antonacci, Francesca;
Miroballo, Mattia;
Dennis, Megan Y;
Sudmant, Peter H;
Malig, Maika;
Denman, Laura;
Munson, Brenton;
Huddleston, John;
Vives, Laura;
Raja, Archana;
Eichler, Evan E;
Steinberg, Karyn Meltz;
Graves, Tina A;
Wilson, Richard K;
Rosenfeld, Jill A;
Stuart, Andrew;
Tang, Joyce;
Amemiya, Chris T;
Shaffer, Lisa G

Publication type:

Article

A genome-wide association study in the Japanese population identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C2CD4B.

Published in:

Nature Genetics, 2010, v. 42, n. 10, p. 864, doi. 10.1038/ng.660

By:

Yamauchi, Toshimasa;
Hara, Kazuo;
Maeda, Shiro;
Yasuda, Kazuki;
Takahashi, Atsushi;
Horikoshi, Momoko;
Nakamura, Masahiro;
Fujita, Hayato;
Grarup, Niels;
Cauchi, Stephane;
Ng, Daniel P. K.;
Ma, Ronald C. W.;
Tsunoda, Tatsuhiko;
Kubo, Michiaki;
Watada, Hirotaka;
Maegawa, Hiroshi;
Okada-Iwabu, Miki;
Iwabu, Masato;
Shojima, Nobuhiro;
Hyoung Doo Shin

Publication type:

Article

A neocentromere derived from a supernumerary marker deleted from the long arm of chromosome 6.

Published in:

Cytogenetic & Genome Research, 2007, v. 119, n. 1/2, p. 154, doi. 10.1159/000109633

By:

Qin, N.;
Bartley, J.;
Wang, J.-C.;
Warburton, P. E.

Publication type:

Article

Trisomy of medial 15q as result of an analphoid supernumerary ring chromosome detected by CGH and FISH.

Published in:

Cytogenetic & Genome Research, 2007, v. 119, n. 1/2, p. 165, doi. 10.1159/000109635

By:

Constantinou, M.;
Płowaśs, I.;
Kałużewski

Publication type:

Article

Molecular evolution of the human chromosome 15 pericentromeric region.

Published in:

Cytogenetic & Genome Research, 2005, v. 108, n. 1-3, p. 73, doi. 10.1159/000080804

By:

Locke, D. P.;
Jiang, Z.;
Pertz, L. M.;
Misceo, D.;
Archidiacono, N.;
Eichler, E. E.

Publication type:

Article

Decreased Exploratory Activity in a Mouse Model of 15q Duplication Syndrome; Implications for Disturbance of Serotonin Signaling.

Published in:

PLoS ONE, 2010, v. 5, n. 12, p. 1, doi. 10.1371/journal.pone.0015126

By:

Tamada, Kota;
Tomonaga, Shozo;
Hatanaka, Fumiyuki;
Nakai, Nobuhiro;
Takao, Keizo;
Miyakawa, Tsuyoshi;
Nakatani, Jin;
Takumi, Toru

Publication type:

Article

CHRFAM7A: a human-specific α7-nicotinic acetylcholine receptor gene shows differential responsiveness of human intestinal epithelial cells to LPS.

Published in:

FASEB Journal, 2015, v. 29, n. 6, p. 2292, doi. 10.1096/fj.14-268037

By:

Xitong Dang;
Eliceiri, Brian P.;
Baird, Andrew;
Costantini, Todd W.

Publication type:

Article

An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection.

Published in:

Clinical Genetics, 2013, v. 83, n. 4, p. 337, doi. 10.1111/j.1399-0004.2012.01931.x

By:

Hilhorst‐Hofstee, Y;
Scholte, AJHA;
Rijlaarsdam, MEB;
Haeringen, A;
Kroft, LJ;
Reijnierse, M;
Ruivenkamp, CAL;
Versteegh, MIM;
Pals, G;
Breuning, MH

Publication type:

Article

Characterisation of interstitial duplications and triplications of chromosome 15q11–q13.

Published in:

Human Genetics, 2002, v. 110, n. 3, p. 227, doi. 10.1007/s00439-002-0678-6

By:

Roberts, Siân E.;
Dennis, Nicholas R.;
Browne, Caroline E.;
Willatt, Lionel;
Woods, C. Geoffrey;
Cross, Ian;
Jacobs, Patricia A.;
Thomas, N. Simon

Publication type:

Article

Syntenic assignment of CD3G to bovine chromosome 15.

Published in:

Animal Genetics, 1999, v. 30, n. 1, p. 67, doi. 10.1046/j.1365-2052.1999.00323-3.x

By:

Amarante, M. R. V.;
Lopes, C. R.;
Womack, J. E.

Publication type:

Article

The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and containsan upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 2, p. 337, doi. 10.1093/hmg/8.2.337

By:

Färber, Claudia;
Dittrich, Bärbel;
Buiting, Karin;
Horsthemke, Bernhard

Publication type:

Article

Angelman syndrome - A rare case report.

Published in:

Indian Journal of Public Health Research & Development, 2011, v. 2, n. 1, p. 78

By:

Shubha, C.;
Pramod, G. V.;
Sujatha, G. P;
Ashok, L.;
Kulkarni

Publication type:

Article

Frequent loss of heterozygosity in the β2-microglobulin region of chromosome 15 in primary human tumors.

Published in:

Immunogenetics, 2011, v. 63, n. 2, p. 65, doi. 10.1007/s00251-010-0494-4

By:

Maleno, Isabel;
Aptsiauri, Natalia;
Cabrera, Teresa;
Gallego, Aurelia;
Paschen, Annette;
López-Nevot, Miguel;
Garrido, Federico

Publication type:

Article

HUMAN GENETICS: Does duplicity make you anxious?

Published in:

Nature Reviews Genetics, 2001, v. 2, n. 10, p. 738, doi. 10.1038/35093523

By:

Casci, Tanita

Publication type:

Article

Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases.

Published in:

2013

By:

Horváth, Emese;
Horváth, Zsuzsanna;
Isaszegi, Dóra;
Gergev, Gyurgyinka;
Nagy, Nikoletta;
Szabó, János;
Sztriha, László;
Széll, Márta;
Endreffy, Emőke

Publication type:

Case Study

Centromeric association of small supernumerary marker chromosomes with their sisterchromosomes detected by three dimensional molecular cytogenetics.

Published in:: Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 15, doi. 10.1186/1755-8166-5-15
Publication type:: Article

Dosage-sensitivity of imprinted genes expressed in the brain: 15q11-q13 and neuropsychiatric illness.

Published in:

Biochemical Society Transactions, 2013, v. 41, n. 3, p. 721, doi. 10.1042/BST20130008

By:

McNamara, Gráinne I.;
Isles, Anthony R.

Publication type:

Article

Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15.

Published in:

BMC Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2156-9-2

By:

Wang, Nicholas J.;
Parokonny, Alexander S.;
Thatcher, Karen N.;
Driscoll, Jennette;
Malone, Barbara M.;
Dorrani, Naghmeh;
Sigman, Marian;
LaSalle, Janine M.;
Schanen, N. Carolyn

Publication type:

Article

Genome screen for bone mineral density phenotypes in Fisher 344 and Lewis rat strains.

Published in:

Mammalian Genome, 2005, v. 16, n. 8, p. 578, doi. 10.1007/s00335-004-2459-0

By:

Koller, Daniel L.;
Alam, Imranul;
Sun, Qiwei;
Lixiang Liu;
Fishburn, Tonya;
Carr, Lucinda G.;
Econs, Michael J.;
Foroud, Tatiana;
Turner, Charles H.

Publication type:

Article

FISH analysis of chromosome segregation in spermatozoa of a t(1;15)(q21;p12) carrier: predictive test for PGD.

Published in:

Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2008, v. 16, p. S-43

By:

J., Loginova;
O., Chiryaeva;
O., Chanisheva

Publication type:

Article

Conservation of genomic imprinting at the NDN, MAGEL2 and MEST loci in pigs.

Published in:

Genes & Genetic Systems, 2012, v. 87, n. 1, p. 53, doi. 10.1266/ggs.87.53

By:

Feng Wei Zhang;
Zheng Bin Han;
Chang Yan Deng;
Hong Juan He;
Qiong Wu

Publication type:

Article

Retention of the duplicated cellular retinoic acid-binding protein 1 genes ( crabp1a and crabp1b) in the zebrafish genome by subfunctionalization of tissue-specific expression.

Published in:

FEBS Journal, 2005, v. 272, n. 14, p. 3561, doi. 10.1111/j.1742-4658.2005.04775.x

By:

Rong-Zong Liu;
Sharma, Mukesh K.;
Qian Sun;
Thisse, Christine;
Thisse, Bernard;
Denovan-Wright, Eileen M.;
Wright, Jonathan M.

Publication type:

Article

p15<sup>Ink4b</sup> is a critical tumour suppressor in the absence of p16<sup>Ink4a</sup>.

Published in:

Nature, 2007, v. 448, n. 7156, p. 943, doi. 10.1038/nature06084

By:

Krimpenfort, Paul;
IJpenberg, Annemieke;
Ji-Ying Song;
van der Valk, Martin;
Nawijn, Martijn;
Zevenhoven, John;
Berns, Anton

Publication type:

Article

Letter to the Editor Supernumerary marker 15 chromosome in a patient with Prader–Willi syndrome.

Published in:

2004

By:

Borelina, D.;
Esperante, S.;
Gutnisky, V.;
Ferreiro, V.;
Ferrer, M.;
Giliberto, F.;
Frechtel, G.;
Francipane, L.;
Szijan, I.

Publication type:

Letter

Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus.

Published in:

PLoS Genetics, 2019, v. 15, n. 3, p. 1, doi. 10.1371/journal.pgen.1008075

By:

Maggiolini, Flavia A. M.;
Cantsilieris, Stuart;
D’Addabbo, Pietro;
Manganelli, Michele;
Coe, Bradley P.;
Dumont, Beth L.;
Sanders, Ashley D.;
Pang, Andy Wing Chun;
Vollger, Mitchell R.;
Palumbo, Orazio;
Palumbo, Pietro;
Accadia, Maria;
Carella, Massimo;
Eichler, Evan E.;
Antonacci, Francesca

Publication type:

Article

Autosomal-dominant, prelingual, nonprogressive sensorineural hearing loss: localization of the gene (DFNA8) to chromosome 11q by linkage in an Austrian family.

Published in:

Cytogenetics & Cell Genetics, 1998, v. 82, n. 1/2, p. 126, doi. 10.1159/000015086

By:

Kirschhofer, K.;
Kenyon, J.B.;
Hoover, D.M.;
Franz, P.;
Weipoltshammer, K.;
F. Wachtler, K.;
Kimberling, W.J.

Publication type:

Article

ASAR15, A cis-Acting Locus that Controls Chromosome-Wide Replication Timing and Stability of Human Chromosome 15.

Published in:

PLoS Genetics, 2015, v. 11, n. 1, p. 1, doi. 10.1371/journal.pgen.1004923

By:

Donley, Nathan;
Smith, Leslie;
Thayer, Mathew J.

Publication type:

Article