Works matching Chromosome duplication

Results: 4280

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

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

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

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

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

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

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

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

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

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

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

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

Dysfunctional sodium channel kinetics as a novel epilepsy mechanism in chromosome 15q11‐q13 duplication syndrome.

Published in:

Epilepsia (Series 4), 2023, v. 64, n. 9, p. 2515, doi. 10.1111/epi.17687

By:

Elamin, Marwa;
Lemtiri‐Chlieh, Fouad;
Robinson, Tiwanna M.;
Levine, Eric S.

Publication type:

Article

Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 2, p. 91, doi. 10.1038/jhg.2014.100

By:

Nakashima, Shinichi;
Kato, Fumiko;
Kosho, Tomoki;
Nagasaki, Keisuke;
Kikuchi, Toru;
Kagami, Masayo;
Fukami, Maki;
Ogata, Tsutomu

Publication type:

Article

Gene duplication to the Y chromosome in Trinidadian Guppies.

Published in:

Molecular Ecology, 2022, v. 31, n. 6, p. 1853, doi. 10.1111/mec.16355

By:

Lin, Yuying;
Darolti, Iulia;
Furman, Benjamin L. S.;
Almeida, Pedro;
Sandkam, Benjamin A.;
Breden, Felix;
Wright, Alison E.;
Mank, Judith E.

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

Double-strand breaks induce inverted duplication chromosome rearrangements by a DNA polymerase δ-dependent mechanism.

Published in:

Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-42640-5

By:

Al-Zain, Amr M.;
Nester, Mattie R.;
Ahmed, Iffat;
Symington, Lorraine S.

Publication type:

Article

Comparative Life Cycle Transcriptomics Revises Leishmania mexicana Genome Annotation and Links a Chromosome Duplication with Parasitism of Vertebrates.

Published in:

PLoS Pathogens, 2015, v. 11, n. 10, p. 1, doi. 10.1371/journal.ppat.1005186

By:

Fiebig, Michael;
Kelly, Steven;
Gluenz, Eva

Publication type:

Article

Factor VII and factor X deficiency in a child with a chromosome 13q duplication and deletion.

Published in:

Haemophilia, 2021, v. 27, n. 1, p. e127, doi. 10.1111/hae.13065

By:

Hutchins, K.;
Rajpurkar, M.;
Stockton, D. W.;
Callaghan, M. U.

Publication type:

Article

Erratum to: Glomerulopathy in patients with distal duplication of chromosome 6p.

Published in:: 2016
Publication type:: Correction Notice

Duplication of chromosome segment 12q13-15 in a lipomatous tumor with minimal nuclear atypia: A case report.

Published in:

2016

By:

JUN NISHIO;
HIROSHI IWASAKI;
TERUFUMI SHIBATA;
KAZUKI NABESHIMA;
MASATOSHI NAITO

Publication type:

Case Study

Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features.

Published in:

Case Reports in Genetics, 2019, p. 1, doi. 10.1155/2019/5384295

By:

Riley, Jacquelyn D.;
Stefaniuk, Catherine M.;
Erenberg, Francine;
Erwin, Angelika L.;
Palange, Lauren;
Astbury, Caroline

Publication type:

Article

Genetic analysis of partial duplication of the long arm of chromosome 16.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02059-3

By:

Tang, Dan;
Chen, Ai;
Xu, Jing;
Huang, Yu;
Fan, Jun;
Wang, Jin;
Zhu, Hui;
Pi, Guanghuan;
Yang, Li;
Xiong, Fu;
Luo, Zemin;
Li, Gen;
Zeng, Lan;
Zhu, Shuyao

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

A self-compatible pear mutant derived from β-irradiated pollen carries an 11-Mb duplication in chromosome 17.

Published in:

Frontiers in Plant Science, 2024, p. 1, doi. 10.3389/fpls.2024.1360185

By:

Sogo Nishio;
Kenta Shirasawa;
Ryotaro Nishimura;
Yukie Takeuchi;
Atsushi Imai;
Nobuko Mase;
Norio Takada

Publication type:

Article

Late-Onset Lennox-Gastaut Syndrome with Chromosome 15q Duplication in Sisters.

Published in:

Journal of Neurosciences in Rural Practice, 2022, v. 13, n. 2, p. 348, doi. 10.1055/s-0042-1743457

By:

Honorato, Marcos Manoel;
Santos, Adriane Cristina Vieira dos;
da Silva, Felipe Luan Lima;
Cremaschi, Renata Carvalho;
Coelho, Fernando Morgadinho

Publication type:

Article

Spatial and Temporal Organization of Chromosome Duplication and Segregation in the Cyanobacterium Synechococcus elongatus PCC 7942.

Published in:

PLoS ONE, 2012, v. 7, n. 10, p. 1, doi. 10.1371/journal.pone.0047837

By:

Chen, Anna H.;
Afonso, Bruno;
Silver, Pamela A.;
Savage, David F.

Publication type:

Article

A Novel Large Duplication on the X Chromosome as a Cause of Familial Generalized Dystonia: A Case Report.

Published in:

2025

By:

Costa, António;
Pereira, Diogo;
Malaquias, Maria João;
Brandão, Ana Filipa;
Oliveira, Jorge;
Magalhães, Marina

Publication type:

Case Study

Chromosome 4 Duplication Associated with Strabismus Leads to Gene Expression Changes in iPSC-Derived Cortical Neurons.

Published in:

Genes, 2025, v. 16, n. 1, p. 80, doi. 10.3390/genes16010080

By:

Martinez-Sanchez, Mayra;
Skarnes, William;
Jain, Ashish;
Vemula, Sampath;
Sun, Liang;
Rockowitz, Shira;
Whitman, Mary C.

Publication type:

Article

Measurement of Sleep Behaviors in Chromosome 15q11.2-13.1 Duplication (Dup15q Syndrome).

Published in:

2021

By:

Barstein, Jamie;
Jeste, Shafali;
Saravanapandian, Vidya;
Hyde, Carly;
Distefano, Charlotte

Publication type:

journal article

Familial aortic disease and a large duplication in chromosome 16p13.1.

Published in:

Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 3, p. 441, doi. 10.1002/mgg3.371

By:

Erhart, Philipp;
Brandt, Tobias;
Straub, Beate K.;
Hausser, Ingrid;
Hentze, Sabine;
Böckler, Dittmar;
Grond-Ginsbach, Caspar

Publication type:

Article

Philadelphia chromosome duplication as a ring-shaped chromosome.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0292-2

By:

Borjas-Gutierrez, Cesar;
Gonzalez-Garcia, Juan Ramon

Publication type:

Article

The Many Faces of Philadelphia: A Mature T-Cell Lymphoma with Variant Philadelphia-Translocation and Duplication of the Philadelphia Chromosome.

Published in:

Hematology Reports, 2025, v. 17, n. 1, p. 1, doi. 10.3390/hematolrep17010001

By:

Vida, Livia;
Horváth, Bálint;
Egyed, Miklós;
Kajtár, Béla;
Alizadeh, Hussain

Publication type:

Article

A Beckwith-Wiedemann syndrome case with de novo 24 Mb duplication of chromosome 11p15.5p14.3.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00532-7

By:

Jiang, Huling;
Ping, Zepeng;
Wang, Jianguo;
Liu, Xiaodan;
Jin, Yuxia;
Li, Suping;
Zhou, Chiyan;
Huang, Pinghua;
Jin, Yi;
Ai, Ling;
Chen, Jie

Publication type:

Article

RNAi-mediated depletion of the NSL complex subunits leads to abnormal chromosome segregation and defective centrosome duplication in Drosophila mitosis.

Published in:

PLoS Genetics, 2019, v. 15, n. 9, p. 1, doi. 10.1371/journal.pgen.1008371

By:

Pavlova, Gera A.;
Popova, Julia V.;
Andreyeva, Evgeniya N.;
Yarinich, Lyubov A.;
Lebedev, Mikhail O.;
Razuvaeva, Alyona V.;
Dubatolova, Tatiana D.;
Oshchepkova, Anastasiya L.;
Pellacani, Claudia;
Somma, Maria Patrizia;
Pindyurin, Alexey V.;
Gatti, Maurizio

Publication type:

Article

Electroclinical characteristics and neuropsychological profile of a female child with chromosome 5p13.2 duplication syndrome.

Published in:

2017

By:

Lucarelli, Elisabetta;
Pasca, Maria;
Fanizza, Isabella;
Trabacca, Antonio;
Pasca, Maria Grazia

Publication type:

Case Study

Shared Neurodevelopmental Perturbations Can Lead to Intellectual Disability in Individuals with Distinct Rare Chromosome Duplications.

Published in:

Genes, 2021, v. 12, n. 5, p. 632, doi. 10.3390/genes12050632

By:

Corrêa, Thiago;
Santos-Rebouças, Cíntia B.;
Mayndra, Maytza;
Schinzel, Albert;
Riegel, Mariluce;
Palumbo, Orazio;
Cinelli, Paolo

Publication type:

Article

Complex Small Supernumerary Marker Chromosome Leading to Partial 4q/21q Duplications: Clinical Implication and Review of the Literature.

Published in:

Cytogenetic & Genome Research, 2018, v. 156, n. 4, p. 173, doi. 10.1159/000494682

By:

Bellucco, Fernanda T.;
Fock, Rodrigo A.;
de Oliveira-Júnior, Hélio R.;
Perez, Ana B.;
Melaragno, Maria I.

Publication type:

Article

The physical map of wheat chromosome 5DS revealed gene duplications and small rearrangements.

Published in:

BMC Genomics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12864-015-1641-y

By:

Akpinar, Bala Ani;
Magni, Federica;
Yuce, Meral;
Lucas, Stuart J.;
Šimková, Hana;
Šafář, Jan;
Vautrin, Sonia;
Bergès, Hélène;
Cattonaro, Federica;
Doležel, Jaroslav;
Budak, Hikmet

Publication type:

Article

Extensive duplication of the Wolbachia DNA in chromosome four of Drosophila ananassae.

Published in:

BMC Genomics, 2014, v. 15, n. 1, p. 1133, doi. 10.1186/1471-2164-15-1097

By:

Klasson, Lisa;
Kumar, Nikhil;
Bromley, Robin;
Sieber, Karsten;
Flowers, Melissa;
Ott, Sandra H.;
Tallon, Luke J.;
Andersson, Siv G. E.;
Hotopp, Julie C. Dunning

Publication type:

Article

EP09.17: Prenatal ultrasound identification of an occipital encephalocele with an underlying duplication of chromosome 7q36.3 including the sonic hedgehog gene.

Published in:

Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 232, doi. 10.1002/uog.19924

By:

Chamberlain, A.K.

Publication type:

Article

DAZ duplications confer the predisposition of Y chromosome haplogroup K* to non-obstructive azoospermia in Han Chinese populations.

Published in:

Human Reproduction, 2013, v. 28, n. 9, p. 2440, doi. 10.1093/humrep/det234

By:

Lu, Chuncheng;
Wang, Ying;
Zhang, Feng;
Lu, Feng;
Xu, Miaofei;
Qin, Yufeng;
Wu, Wei;
Li, Shilin;
Song, Ling;
Yang, Shuping;
Wu, Di;
Jin, Li;
Shen, Hongbing;
Sha, Jiahao;
Xia, Yankai;
Hu, Zhibin;
Wang, Xinru

Publication type:

Article

Persistent Mosaicism for 12p Duplication/Triplication Chromosome Structural Abnormality in Peripheral Blood.

Published in:

Case Reports in Genetics, 2013, p. 1, doi. 10.1155/2013/857926

By:

Shackelford, Amy L.;
Conlin, Laura K.;
Hummel, Marybeth;
Spinner, Nancy B.;
Wenger, Sharon L.

Publication type:

Article

Prenatal Diagnosis and Genetic Counseling of a Maternally Inherited Chromosome 15q11.2q13.1 Duplication in a Chinese Family.

Published in:

Alternative Therapies in Health & Medicine, 2023, v. 29, n. 7, p. 462

By:

Long He;
Chun He;
Wenjuan Tang

Publication type:

Article

A 1.1 Mb duplication CNV on chromosome 17 contributes to skeletal muscle development in Boer goats.

Published in:

Zoological Research, 2023, v. 44, n. 2, p. 303, doi. 10.24272/j.issn.2095-8137.2022.384

By:

Ying Yuan;
Wei-Yi Zhang;
Bai-Gao Yang;
Dong-Ke Zhou;
Lu Xu;
Yong-Meng He;
Hao-Yuan Zhang;
Cheng-Li Liu;
Yue-Hui Ma;
Ming-Xing Chu;
Wen-Guang Zhang;
Hui-Jiang Gao;
Lin Jiang;
Fu-Ping Zhao;
Lu- Pei Zhang;
Ri-Su Na;
Oyungerel, Baatarchogt;
Yan-Guo Han;
Yan Zeng;
Shi-Zhi Wang

Publication type:

Article

Familial intestinal degenerative neuropathy with chronic intestinal pseudo-obstruction linked to a gene locus with duplication in chromosome 9.

Published in:

Scandinavian Journal of Gastroenterology, 2019, v. 54, n. 12, p. 1441, doi. 10.1080/00365521.2019.1697741

By:

Abrahamsson, Hasse;
Ahlfors, Frida;
Fransson, Susanne;
Nilsson, Staffan;
Linander, Hans;
Martinsson, Tommy

Publication type:

Article

Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0390-4

By:

Su, Meng;
Benke, Paul J.;
Bademci, Guney;
Cengiz, Filiz Basak;
Ouyang, Xiaomei;
Peng, Jinghong;
Casas, Carmen E.;
Tekin, Mustafa;
Fan, Yao-Shan

Publication type:

Article