Works matching Chromosome duplication

Results: 1756

Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications.

Published in:

Journal of Clinical Immunology, 2023, v. 43, n. 4, p. 794, doi. 10.1007/s10875-023-01443-5

By:

Bhattarai, Dharmagat;
McGinn, Daniel E.;
Crowley, T. Blaine;
Giunta, Victoria;
Gaiser, Kimberly;
Zackai, Elaine H.;
Emanuel, Beverly S.;
Heimall, Jennifer;
Jyonouchi, Soma;
Lee, Juhee;
Sun, Di;
McDonald-McGinn, Donna M.;
Sullivan, Kathleen E.

Publication type:

Article

Chromosome 15 Duplication and Attention-Deficit Hyperactivity Disorder.

Published in:

2017

By:

Gnanavel, Sundar

Publication type:

Case Study

A factor in a wild isolated Neurospora crassa strain enables a chromosome segment duplication to suppress repeat-induced point mutation.

Published in:

Journal of Biosciences, 2011, v. 36, n. 5, p. 817, doi. 10.1007/s12038-011-9153-7

By:

Ramakrishnan, Mukund;
Sowjanya, T;
Raj, Kranthi;
Kasbekar, Durgadas

Publication type:

Article

Translocations used to generate chromosome segment duplications in Neurospora can disrupt genes and create novel open reading frames.

Published in:

Journal of Biosciences, 2010, v. 35, n. 4, p. 539, doi. 10.1007/s12038-010-0062-y

By:

Singh, Parmit K.;
Iyer, Srividhya V.;
Sowjanya, T. Naga;
Raj, B. Kranthi;
Kasbekar, Durgadas P.

Publication type:

Article

Glomerulopathy in patients with distal duplication of chromosome 6p.

Published in:

BMC Nephrology, 2016, v. 17, p. 1, doi. 10.1186/s12882-016-0242-6

By:

Jankauskienė, Augustina;
Koczkowska, Magdalena;
Bjerre, Anna;
Bernaciak, Joanna;
Schaefer, Franz;
Lipska-Ziętkiewicz, Beata S.

Publication type:

Article

De novo duplication of chromosome 16p in a female infant with signs of neonatal hemochromatosis.

Published in:

Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 2, doi. 10.1186/1755-8166-7-7

By:

Schwaibold, Eva Maria;
Bartels, Iris;
Küster, Helmut;
Lorenz, Michael;
Burfeind, Peter;
Adam, Ronja;
Zoll, Barbara

Publication type:

Article

Duplicación 10q23q24, un rearreglo cromosómico asociado a anomalías congénitas múltiples.

Published in:

Médicas UIS, 2022, v. 35, n. 3, p. 83, doi. 10.18273/revmed.v35n3-2022009

By:

Rueda-Soto, Andrea Carolina;
Gómez-Viracacha, Ingrid Mayerly;
Mora-Barreto, Lina Maria

Publication type:

Article

Paraganglioma of the urinary bladder with chromosome duplications detected by fluorescence in situ hybridization in urine exfoliated cells: A case report.

Published in:

2016

By:

CHUNGUANG YANG;
ZHENG LIU;
RUZHU LAN;
ZHIHUA WANG;
ZHIQUAN HU;
ZHIQIANG CHEN;
ZHANGQUN YE

Publication type:

Case Study

Chromosome Duplication (14q) and The Genotype Phenotype Correlation.

Published in:

International Journal of Fertility & Sterility, 2014, v. 8, n. 1, p. 95

By:

Sadr-Nabavi, Ariane;
Saeidi, Morteza

Publication type:

Article

Monozygotic Dichorionic Twins Heterokaryotypic for Duplication Chromosome 2q13-q23.3.

Published in:

Fetal Diagnosis & Therapy, 2009, v. 25, n. 4, p. 397, doi. 10.1159/000236153

By:

Leung, W. C.;
Choi, H.;
Lau, W. L.;
Ng, L. K.;
Lau, E. T.;
Lo, F. M.;
Choy, K. W.;
Lau, T. K.;
Tang, M. H. Y.;
Chin, R.

Publication type:

Article

Chromosome duplication in Brachiaria (A. Rich.) Stapf allows intraspecific crosses.

Published in:

Crop Breeding & Applied Biotechnology, 2009, v. 9, n. 4, p. 328, doi. 10.12702/1984-7033.v09n04a07

By:

Simioni, Carine;
do Valle, Cacilda Borges

Publication type:

Article

Autistic spectrum disorder associated with partial duplication of chromosome 15; three case reports.

Published in:

European Child & Adolescent Psychiatry, 2004, v. 13, n. 6, p. 389, doi. 10.1007/s00787-004-0414-y

By:

Simic, Mima;
Turk, Jeremy

Publication type:

Article

Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7.

Published in:

BMC Biology, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s12915-021-01080-7

By:

Meganathan, Kesavan;
Prakasam, Ramachandran;
Baldridge, Dustin;
Gontarz, Paul;
Zhang, Bo;
Urano, Fumihiko;
Bonni, Azad;
Maloney, Susan E.;
Turner, Tychele N.;
Huettner, James E.;
Constantino, John N.;
Kroll, Kristen L.

Publication type:

Article

Chromosome Duplication in Saccharomyces cerevisiae.

Published in:

Genetics, 2016, v. 203, n. 3, p. 1027, doi. 10.1534/genetics.115.186452

By:

Bell, Stephen P.;
Labib, Karim

Publication type:

Article

Novel 1.3 Mb germline duplication in chromosome 8q21.11 by microarray comparative genomic hybridization plus single nucleotide polymorphism analysis in an adult patient with pancytopenia and urinary bladder complications.

Published in:

2018

By:

Reyes Barron, Cynthia;
Evans, Andrew G.;
Miyamoto, Hiroshi;
Zhang, Bin;
Iqbal, M. Anwar

Publication type:

Case Study

Perioperative Management of the Patient With Chromosome 6p Duplication: A Case Report And a Narrative Review of Literature.

Published in:

2025

By:

Hudec, Jan;
Prokopová, Tereza;
Galko, Michal;
Prýmek, Martin;
Repko, Martin;
Gál, Roman

Publication type:

Case Study

Large Chromosome 2p Duplication-Associated Mechanisms and Clinical Presentations.

Published in:

Cytogenetic & Genome Research, 2023, v. 163, n. 1/2, p. 14, doi. 10.1159/000533218

By:

Fang, Xiaolan;
Hilton, Benjamin;
Clarkson, Katie;
Rogers, R. Curtis;
Schroer, Richard;
Childers, Anna;
Patterson, Wesley G.;
Davis, Jessica M.;
Everman, David B.;
DuPont, Barbara R.

Publication type:

Article

Ring chromosome 9 with a 9p22.3-p24.3 duplication.

Published in:

1999

By:

Seghezzi, L.;
Maraschio, P.;
Bozzola, M.;
Maserati, E.;
Tupler, R.;
Marchi, A.;
Tiepolo, L.

Publication type:

journal article

Chromosome duplication in Lolium multiflorum Lam.

Published in:

Crop Breeding & Applied Biotechnology, 2014, v. 14, n. 4, p. 251, doi. 10.1590/1984-70332014v14n4n39

By:

Pereira, Roselaine Cristina;
Ferreira, Marco Túlio Mendes;
Davide, Lisete Chamma;
Pasqual, Moacir;
Mittelmann, Andréa;
Techio, Vânia Helena

Publication type:

Article

Duplication of Philadelphia chromosome and trisomy of chromosome 21 in a pediatric patient with acute lymphoblastic leukemia.

Published in:

Medical Oncology, 2011, v. 28, p. 501, doi. 10.1007/s12032-010-9689-7

By:

Katsibardi, Katerina;
Braoudaki, Maria;
Papadhimitriou, Stefanos;
Karamolegou, Kalliopi;
Tzortzatou-Stathopoulou, Fotini

Publication type:

Article

Physical organization of the major duplication on Brassica oleracea chromosome O6 revealed through fluorescence in situ hybridization with Arabidopsis and Brassica BAC probes.

Published in:

Genome, 2005, v. 48, n. 6, p. 1093, doi. 10.1139/G05-069

By:

Howell, E. C.;
Armstrong, S. J.;
Barker, G. C.;
Jones, G. H.;
King, G. J.;
Ryder, C. D.;
Kearsey, M. J.;
Jenkins, G.

Publication type:

Article

Anisomastia Associated with Interstitial Duplication of Chromosome 16, Mental Retardation, Obesity, Dysmorphic Facies, and Digital Anomalies: Molecular Mapping of a New Syndrome by Fluorescent in Situ Hybridization and Microsatellites to 16q13(D16S419-D16S503).

Published in:

Journal of Clinical Endocrinology & Metabolism, 2000, v. 85, n. 9, p. 3396, doi. 10.1210/jcem.85.9.6776

By:

STRATAKIS, CONSTANTINE A.;
LAFFERTY, ANTONY;
TAYMANS, SUSAN E.;
GAFNI, RACHEL I.;
MECK, JEANNE M.;
BLANCATO, JAN

Publication type:

Article

Analysis of the DNA sequence and duplication history of human chromosome 15.

Published in:

2006

By:

Zody, Michael C.;
Garber, Manuel;
Sharpe, Ted;
Young, Sarah K.;
Rowen, Lee;
O'Neill, Keith;
Whittaker, Charles A.;
Kamal, Michael;
Chang, Jean L.;
Cuomo, Christina A.;
Dewar, Ken;
FitzGerald, Michael G.;
Kodira, Chinnappa D.;
Madan, Anup;
Shizhen Qin;
Xiaoping Yang;
Abbasi, Nissa;
Abouelleil, Amr;
Arachchi, Harindra M.;
Baradarani, Lida

Publication type:

Letter

Chromosome Loss Followed by Duplication Is the Major Mechanism of Spontaneous Mating-Type Locus Homozygosis in Candida albicans.

Published in:

Genetics, 2005, v. 169, n. 3, p. 1311, doi. 10.1534/genetics.104.033167

By:

Wei Wu;
Pujol, Claude;
Lockhart, Shawn R.;
Soll, David R.

Publication type:

Article

Clinical Features of de novo Pure 16q21q24.1 Chromosome Duplication.

Published in:

Cytogenetic & Genome Research, 2021, v. 161, n. 3/4, p. 160, doi. 10.1159/000515643

By:

Carvalho, Daniel R.;
Moretto, Ana Luisa L.;
Schneider, Marcia;
Formigli, Lia M.

Publication type:

Article

Congenital diaphragmatic hernia with a pure duplication of chromosome 1q: report of the first surviving case.

Published in:

2009

By:

Otake, Kohei;
Uchida, Keiichi;
Inoue, Mikihiro;
Koike, Yuhki;
Matsushita, Kohei;
Miki, Chikao;
Sugiyama, Takashi;
Kusunoki, Masato

Publication type:

journal article

A - 54 Neuropsychological Functioning in Rare Chromosome Duplication: a Case Study.

Published in:

2024

By:

Schwartz, Jenna;
Harder, Lana

Publication type:

Case Study

A - 51 Neuropsychological Development in Twins with Chromosome 7p14.1 Duplication.

Published in:

Archives of Clinical Neuropsychology, 2024, v. 39, n. 7, p. 989, doi. 10.1093/arclin/acae067.065

By:

Marshall, Blaine;
Morton, Carla

Publication type:

Article

A-154 Chromosome 18q Deletion & Chromosome 18p Duplication: A Neuropsychological Case Study.

Published in:

2022

By:

Newkirk, Bailey

Publication type:

Case Study

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 223

By:

Chance, Phillip F.;
Abbas, Nacer;
Lensch, M.William;
Pentao, Liu;
Roa, Benjamin B.;
Patel, Pragna I.;
Lupski, James R.

Publication type:

Article

A Novel 6.14 Mb Duplication of Chromosome 8p21 in a Patient with Autism and Self Mutilation.

Published in:

Journal of Autism & Developmental Disorders, 2009, v. 39, n. 2, p. 322, doi. 10.1007/s10803-008-0627-x

By:

Ozgen, Heval;
Staal, Wouter;
Barber, John;
Jonge, Maretha;
Eleveld, Marc;
Beemer, Frits;
Hochstenbach, Ron;
Poot, Martin

Publication type:

Article

Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, p. 1, doi. 10.1186/s13039-018-0372-6

By:

Armstrong, Margaret E.;
Weaver, David D.;
Lah, Melissa D.;
Vance, Gail H.;
Landis, Benjamin J.;
Ware, Stephanie M.;
Helm, Benjamin M.

Publication type:

Article

Fellow Column: An Unbalanced Translocation Involving Partial Duplication of Chromosome 6 and Partial Deletion of Chromosome 10 in a Premature Infant with Tetralogy of Fallot.

Published in:

Neonatology Today, 2020, v. 15, n. 9, p. 20, doi. 10.51362/neonatology.today/202091592025

By:

Mo, Kevin;
Tran, Teagan;
Boodaghian, Arjina;
Wear, John;
Ho, John;
Clark, Robin;
Goldstein, Mitchell

Publication type:

Article

Sister chromatid separation and chromosome re-duplication are regulated by different mechanisms in response to spindle damage.

Published in:

EMBO Journal, 1999, v. 18, n. 10, p. 2707, doi. 10.1093/emboj/18.10.2707

By:

Alexandru, Gabriela;
Zachariae, Wolfgang;
Schleiffer, Alexander;
Nasmyth, Kim

Publication type:

Article

A de novo chromosome 9p duplication in a female child with short stature and developmental delay.

Published in:

2023

By:

Tkemaladze, Tinatin;
Bregvadze, Kakha;
Papiashvili, Nikoloz;
Gagua, Sopio;
Abzianidze, Elene

Publication type:

Case Study

Familial occurrence of neonatal diabetes with duplications in chromosome 6q24: treatment with sulfonylurea and 40-yr follow-up.

Published in:

Pediatric Diabetes, 2012, v. 13, n. 2, p. 155, doi. 10.1111/j.1399-5448.2011.00776.x

By:

Søvik, Oddmund;
Aagenæs, Øystein;
Eide, Stig Å;
Mackay, Deborah;
Temple, Isabel K;
Molven, Anders;
Njølstad, Pål R

Publication type:

Article

Titration of repeat-induced point mutation (RIP) by chromosome segment duplications in Neurospora crassa.

Published in:

Genetica, 2008, v. 134, n. 3, p. 267, doi. 10.1007/s10709-007-9234-6

By:

Parmit Singh;
Durgadas Kasbekar

Publication type:

Article

Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay.

Published in:

Clinical Case Reports, 2015, v. 3, n. 6, p. 396, doi. 10.1002/ccr3.241

By:

Tayeh, Marwan K.;
Rocco, Tracy;
Ackley, Todd;
Ernst, Leslie;
Glover, Thomas;
Innis, Jeffrey W.

Publication type:

Article

Focal segmental glomerulosclerosis, Coats’-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new association.

Published in:

2010

By:

Reynolds, Ben;
Lemmers, Richard;
Tolmie, John;
Howatson, Allan;
Hughes, David

Publication type:

Case Study

The pericentromeric region of human chromosome 11: evidence for a chromosome-specific duplication.

Published in:

Cytogenetics & Cell Genetics, 2001, v. 94, n. 3/4, p. 137, doi. 10.1159/000048805

By:

Zhang, J.;
Qin, S.;
Sait, S.N.J.;
Haley, L.L.;
Henry, W.M.;
Higgins, M.J.;
Nowak, N.J.;
Shows, T.B.;
Gerhard, D.S.

Publication type:

Article

Prenatal molecular cytogenetic diagnosis of partial tetrasomy 10p due to neocentromere formation in an inversion duplication analphoid marker chromosome.

Published in:

Cytogenetics & Cell Genetics, 2000, v. 91, n. 1-4, p. 165, doi. 10.1159/000056839

By:

Levy, B.;
Papenhausen, P. R.;
Tepperberg, J. H.;
Dunn, T. M.;
Fallet, S.;
Magid, M. S.;
Kardon, N. B.;
Hirschhorn, K.;
Warburton, P. E.

Publication type:

Article

De Novo Duplication of Chromosome 13(q32-q34) in a Child With Developmental Delay.

Published in:

Journal of Child Neurology, 2006, v. 21, n. 12, p. 1084, doi. 10.1177/7010.2006.00229

By:

Milani, Donatella;
D'Arrigo, Stefano;
Guerneri, Silvana;
Selicorni, Angelo;
Riva, Daria;
Pantaleoni, Chiara

Publication type:

Article

A Paternal "Balanced" Chromosome 2 and 4 Translocation with Chromosome 21q Insertion Leading to Duplication of 2q22.1q24.1 in Two Siblings.

Published in:

Cytogenetic & Genome Research, 2022, v. 162, n. 6, p. 297, doi. 10.1159/000527318

By:

Gökoğlu, Mustafa;
Yürür Kutlay, Nüket;
Altıner, Şule

Publication type:

Article

Tetraploidization in citrus rootstocks: effect of genetic constitution and environment in chromosome duplication.

Published in:

Crop Breeding & Applied Biotechnology, 2016, v. 16, n. 1, p. 35, doi. 10.1590/1984-70332016v16n1a6

By:

Guerra, Divanilde;
Schifino-Wittmann, Maria Teresa;
Schwarz, Sérgio Francisco;
Weiler, Roberto Luis;
Dahmer, Nair;
de Souza, Paulo Vitor Dutra

Publication type:

Article

Linkage of the ß-Like ?-Globin Gene to a-Like Globin Genes in an Australian Marsupial Supports the Chromosome Duplication Model for Separation of Globin Gene Clusters.

Published in:

Journal of Molecular Evolution, 2004, v. 58, n. 6, p. 642, doi. 10.1007/s00239-004-2584-0

By:

David Wheeler;
Rory M. Hope;
Steven J. B. Cooper;
Andrew A. Gooley;
Robert A. B. Holland

Publication type:

Article

Novel Neuropeptide Y Y2-Like Receptor Subtype in Zebrafish and Frogs Supports Early Vertebrate Chromosome Duplications.

Published in:

Journal of Molecular Evolution, 2004, v. 58, n. 1, p. 106, doi. 10.1007/s00239-003-2529-z

By:

Fredriksson, R.;
Larson, E. T.;
Yan, Y. -L.;
Postlethwait, J. -H.;
Larhammar, D.

Publication type:

Article

Persistence of the Left Superior Vena Cava in a Patient with Duplication of Chromosome 8p—A Case Report.

Published in:

International Journal of Angiology (Springer Science & Business Media B.V.), 2004, v. 13, n. 3, p. 120, doi. 10.1007/s00547-004-1065-z

By:

Tubbs, R. Shane;
Blount, Jeffrey P.;
Oakes, W. Jerry

Publication type:

Article

Synchrony of Chromosome Duplication.

Published in:

Nature, 1966, v. 209, n. 5022, p. 537, doi. 10.1038/209537b0

By:

GILBERT, C. W.;
LAJTHA, L. G.;
MULDAL, S.;
OCKEY, C. H.

Publication type:

Article

New recurrent chromosome change in pediatric therapy-related myelodysplastic syndrome: unbalanced translocation 1/6 with cryptic duplication of short arm of chromosome 6.

Published in:

Leukemia & Lymphoma, 2012, v. 53, n. 12, p. 2434, doi. 10.3109/10428194.2012.695778

By:

Tassano, Elisa;
Tavella, Elisa;
Valli, Roberto;
Micalizzi, Concetta;
Cuoco, Cristina;
Maserati, Emanuela;
Pasquali, Francesco;
Morerio, Cristina

Publication type:

Article

A 2.3?Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 586, doi. 10.1038/sj.ejhg.5201369

By:

Bonaglia, Maria Clara;
Giorda, Roberto;
Tenconi, Romano;
Pessina, Marco;
Pramparo, Tiziano;
Borgatti, Renato;
Zuffardi, Orsetta

Publication type:

Article