Works matching IS 17558166 AND DT 2016 AND VI 9

Results: 91

A high complex karyotype involving eleven chromosomes including three novel chromosomal aberrations and monoallelic loss of TP53 in case of follicular lymphoma transformed into B-cell lymphoblastic leukemia.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0300-6

By:

Wafa, Abdulsamad;
Moassass, Faten;
Liehr, Thomas;
Bhatt, Samarth;
Aljapawe, Abdulmunim;
Achkar, Walid Al

Publication type:

Article

Inherent variability of cancer-specific aneuploidy generates metastases.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0297-x

By:

Bloomfield, Mathew;
Duesberg, Peter

Publication type:

Article

Autism and intellectual disability in a patient with two microdeletions in 6q16: a contiguous gene deletion syndrome?

Published in:

2016

By:

Strunk, Daniela;
Weber, Peter;
Röthlisberger, Benno;
Filges, Isabel

Publication type:

Case Study

A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency.

Published in:

2016

By:

Giordano, Mara;
Muratore, Valentina;
Babu, Deepak;
Meazza, Cristina;
Bozzola, Mauro

Publication type:

Case Study

Effect of SP600125 on the mitotic spindle in HeLa Cells, leading to mitotic arrest, endoreduplication and apoptosis.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0296-y

By:

Mili, Donia;
Abid, Kaoutha;
Rjiba, Imed;
Kenani, Abderraouf

Publication type:

Article

Molecular characterization of a rare analphoid supernumerary marker chromosome derived from 7q35→ qter: a case report.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0295-z

By:

Marques, Bárbara;
Ferreira, Cristina;
Brito, Filomena;
Pedro, Sónia;
Alves, Cristina;
Lourenço, Teresa;
Amorim, Marta;
Correia, Hildeberto

Publication type:

Article

Early detection and personalized treatment in oral cancer: the impact of omics approaches.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0293-1

By:

Ribeiro, Ilda Patrícia;
Barroso, Leonor;
Marques, Francisco;
Melo, Joana Barbosa;
Carreira, Isabel Marques

Publication type:

Article

Coexistence of iAMP21 and ETV6-RUNX1 fusion in an adolescent with B cell acute lymphoblastic leukemia: literature review of six additional cases.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0294-0

By:

Jun Gu;
Reynolds, Alexandra;
Lianghua Fang;
DeGraffenreid, Corrie;
Sterns, Kenneth;
Patel, Keyur P.;
Medeiros, Jeffrey;
Pei Lin;
Xinyan Lu

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

Enrichment of small pathogenic deletions at chromosome 9p24.3 and 9q34.3 involving genes DOCK8, KANK1, EHMT1 identified by using high-resolution oligonucleotide-single nucleotide polymorphism array analysis.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0291-3

By:

Jia-Chi Wang;
Mahon, Loretta W.;
Ross, Leslie P.;
Anguiano, Arturo;
Owen, Renius;
Boyar, Fatih Z.

Publication type:

Article

Erratum to: Subtelomeric multiplex ligationdependent probe amplification as a supplement for rapid prenatal detection of fetal chromosomal aberrations.

Published in:: 2016
Publication type:: Correction Notice

MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions.

Published in:

2016

By:

Tucci, Arianna;
Ciaccio, Claudia;
Scuvera, Giulietta;
Esposito, Susanna;
Milani, Donatella

Publication type:

Case Study

Molecular cytogenetic analysis of early spontaneous abortions conceived from varying assisted reproductive technology procedures.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0284-2

By:

Tonghua Wu;
Biao Yin;
Yuanchang Zhu;
Guangui Li;
Lijun Ye;
Chunmei Chen;
Yong Zeng;
Desheng Liang

Publication type:

Article

Interstitial de novo 18q22.3q23 deletion: clinical, neuroradiological and molecular characterization of a new case and review of the literature.

Published in:

2016

By:

Tassano, Elisa;
Severino, Mariasavina;
Rosina, Silvia;
Papa, Riccardo;
Tortora, Domenico;
Gimelli, Giorgio;
Cuoco, Cristina;
Picco, Paolo

Publication type:

Case Study

Erratum to: Delineation variable genotype/phenotype correlations of 6q27 terminal deletion derived from dic(6;18)(q27;p10).

Published in:: 2016
Publication type:: Correction Notice

12p deletion spectrum syndrome: a new case report reinforces the evidence regarding the potential relationship to autism spectrum disorder and related developmental impairments.

Published in:

2016

By:

Leyser, Marcio;
Dias, Bruno Leonardo;
Coelho, Ana Luiza;
Vasconcelos, Marcio;
Nascimento, Osvaldo J. M.

Publication type:

Case Study

The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0286-0

By:

Kyungsoo Ha;
Yiping Shen;
Graves, Tyler;
Cheol-Hee Kim;
Hyung-Goo Kim

Publication type:

Article

New insights of karyoevolution in the Amazonian turtles Podocnemis expansa and Podocnemis unifilis (Testudines, Podocnemidae).

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0281-5

By:

Noronha, R. C. R.;
Barros, L. M. R.;
Araújo, R. E. F.;
Marques, D. F.;
Nagamachi, C. Y.;
Martins, C.;
Pieczarka, J. C.

Publication type:

Article

One pedigree we all may have come from - did Adam and Eve have the chromosome 2 fusion?

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0283-3

By:

Stankiewicz, Paweł

Publication type:

Article

19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0282-4

By:

Hai-Yun Dong;
Hui Zeng;
Yi-Qiao Hu;
Li Xie;
Jian Wang;
Xiu-Ying Wang;
Yi-Feng Yang;
Zhi-Ping Tan

Publication type:

Article

First molecular-cytogenetic characterization of Fanconi anemia fragile sites in primary lymphocytes of FA-D2 patients in different stages of the disease.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0280-6

By:

Filipović, Jelena;
Joksić, Gordana;
Vujić, Dragana;
Joksić, Ivana;
Mrasek, Kristin;
Weise, Anja;
Liehr, Thomas

Publication type:

Article

Enlarged NT (≥3.5 mm) in the first trimester - not all chromosome aberrations can be detected by NIPT.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0279-z

By:

Srebniak, Malgorzata I.;
de Wit, Merel C.;
Diderich, Karin E. M.;
Govaerts, Lutgarde C. P.;
Joosten, Marieke;
Knapen, Maarten F. C. M.;
Bos, Marnix J.;
Looye-Bruinsma, Gerda A. G.;
Koningen, Mieke;
Go, Attie T. J. I.;
Galjaard, Robert Jan H.;
Van Opstal, Diane

Publication type:

Article

MYB deregulation from a EWSR1-MYB fusion at leukemic evolution of a JAK2<sup>V617F</sup> positive primary myelofibrosis.

Published in:

2016

By:

Pierini, Tiziana;
Di Giacomo, Danika;
Pierini, Valentina;
Gorello, Paolo;
Barba, Gianluca;
Fernandez, Anair Graciela Lema;
Pellanera, Fabrizia;
Iannotti, Tamara;
Falzetti, Franca;
La Starza, Roberta;
Mecucci, Cristina

Publication type:

Case Study

Rare congenital chromosomal aberration dic(X;Y)(p22.33;p11.32) in a patient with primary myelofibrosis.

Published in:

2016

By:

Pavlistova, Lenka;
Izakova, Silvia;
Zemanova, Zuzana;
Bartuskova, Lucie;
Langova, Martina;
Malikova, Pavlina;
Michalova, Kyra

Publication type:

Case Study

Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0274-4

By:

Shujie Zhang;
Haisong Qin;
Jin Wang;
Luping OuYang;
Shiyu Luo;
Chunyun Fu;
Xin Fan;
Jiasun Su;
Rongyu Chen;
Bobo Xie;
Xuyun Hu;
Shaoke Chen;
Yiping Shen

Publication type:

Article

Target fluorescence in-situ hybridization (Target FISH) for plasma cell enrichment in myeloma.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0263-7

By:

Ma, Edmond S. K.;
Wang, Candy L. N.;
Wong, Anthony T. C.;
Gigi Choy;
Tsun Leung Chan

Publication type:

Article

Genome wide array-CGH and qPCR analysis for the identification of genome defects in Williams' syndrome patients in Saudi Arabia.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0266-4

By:

Hussein, I. R.;
Magbooli, A.;
Huwait, E.;
Chaudhary, A.;
Bader, R.;
Gari, M.;
Ashgan, F.;
Alquaiti, M.;
Abuzenadah, A.;
AlQahtani, M.

Publication type:

Article

Chromosomal microarray analysis as the first-tier test for the identification of pathogenic copy number variants in chromosome 9 pericentric regions and its challenge.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0272-6

By:

Jia-Chi Wang;
Boyar, Fatih Z.

Publication type:

Article

Sex chromosome loss after allogeneic hematopoietic stem cell transplant in patients with hematologic neoplasms: a diagnostic dilemma for clinical cytogeneticists.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0275-3

By:

Tang, Zhenya;
Medeiros, L. Jeffrey;
Yin, C. Cameron;
Wei Wang;
Xinyan Lu;
Young, Ken H.;
Khoury, Joseph D.;
Tang, Guilin

Publication type:

Article

Identification of small marker chromosomes using microarray comparative genomic hybridization and multicolor fluorescent in situ hybridization.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0273-5

By:

Woori Jang;
Hyojin Chae;
Jiyeon Kim;
Jung-Ok Son;
Seok Chan Kim;
Bo Kyung Koo;
Myungshin Kim;
Yonggoo Kim;
In Yang Park;
In Kyung Sung

Publication type:

Article

Thoughts about SLC16A2, TSIX and XIST gene like sites in the human genome and a potential role in cellular chromosome counting.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0271-7

By:

Rinčić, Martina;
Iourov, Ivan Y.;
Liehr, Thomas

Publication type:

Article

14q32.3-qter trisomic segment: a case report and literature review.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0265-5

By:

Villa, Nicoletta;
Scatigno, Agnese;
Redaelli, Serena;
Conconi, Donatella;
Cianci, Paola;
Farina, Clotilde;
Fossati, Chiara;
Dalprà, Leda;
Maitz, Silvia;
Selicorni, Angelo

Publication type:

Article

The ancestral chromosomes of Dromiciops gliroides (Microbiotheridae), and its bearings on the karyotypic evolution of American marsupials.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0270-8

By:

Suárez-Villota, Elkin Y.;
Haro, Ronie E.;
Vargas, Rodrigo A.;
Gallardo, Milton H.

Publication type:

Article

Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay.

Published in:

2016

By:

Fryssira, H.;
Tsoutsou, E.;
Psoni, S.;
Amenta, S.;
Liehr, T.;
Anastasakis, E.;
Skentou, Ch;
Ntouflia, A.;
Papoulidis, I.;
Manolakos, E.;
Chaliasos, N.

Publication type:

Case Study

A de novo 1.6Mb microdeletion at 19q13.2 in a boy with Diamond-Blackfan anemia, global developmental delay and multiple congenital anomalies.

Published in:

2016

By:

Haiming Yuan;
Zhe Meng;
Liping Liu;
Xiaoyan Deng;
Xizi Hu;
Liyang Liang

Publication type:

Case Study

A balanced chromosomal translocation involving chromosomes 3 and 16 in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome reveals new candidate genes at 3p22.3 and 16p13.3.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0264-6

By:

Williams, Lacey S.;
Hyung-Goo Kim;
Kalscheuer, Vera M.;
Tuck, J. Matthew;
Chorich, Lynn P.;
Sullivan, Megan E.;
Falkenstrom, Allison;
Reindollar, Richard H.;
Layman, Lawrence C.

Publication type:

Article

A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome.

Published in:

2016

By:

Jing Liu;
Hao Hu;
Na Ma;
Zhengjun Jia;
Yuchun Zhou;
Jiancheng Hu;
Hua Wang

Publication type:

Case Study

Erratum to: Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicism.

Published in:: 2016
Publication type:: Correction Notice

Recurrent amplification of RTEL1 and ABCA13 and its synergistic effect associated with clinicopathological data of gastric adenocarcinoma.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0260-x

By:

Araújo, T. M.;
Seabra, A. D.;
Lima, E. M.;
Assumpção, P. P.;
Montenegro, R. C.;
Demachki, S.;
Burbano, R. M.;
Khayat, A. S.

Publication type:

Article

Novel microduplication of CHL1 gene in a patient with autism spectrum disorder: a case report and a brief literature review.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0261-9

By:

Chunyang Li;
Chunxue Liu;
Bingrui Zhou;
Chunchun Hu;
Xiu Xu

Publication type:

Article

A novel BCR-ABL1 fusion gene identified by next-generation sequencing in chronic myeloid leukemia.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0257-5

By:

Xiaodong Lyu;
Jingke Yang;
Xianwei Wang;
Jieying Hu;
Bing Liu;
Yu Zhao;
Zhen Guo;
Bingshan Liu;
Ruihua Fan;
Yongping Song

Publication type:

Article

Nucleolus-like body of mouse oocytes contains lamin A and B and TRF2 but not actin and topo II.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0259-3

By:

Pochukalina, Galina N.;
Ilicheva, Nadya V.;
Podgornaya, Olga I.;
Voronin, Alexey P.

Publication type:

Article

Comparative analysis of individual chromosome involvement in micronuclei induced by mitomycin C and bleomycin in human leukocytes.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0258-4

By:

Hovhannisyan, Galina;
Aroutiounian, Rouben;
Babayan, Nelly;
Harutyunyan, Tigran;
Liehr, Thomas

Publication type:

Article

High chromosomal instability in workers occupationally exposed to solvents and paint removers.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0256-6

By:

Villalba-Campos, Mónica;
Chuaire-Noack, Lilian;
Sánchez-Corredor, Magda Carolina;
Rondón-Lagos, Milena

Publication type:

Article

A family with Robertsonian translocation: a potential mechanism of speciation in humans.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0255-7

By:

Jieping Song;
Xi li;
Lei Sun;
Shuqin Xu;
Nian Liu;
Yanyi Yao;
Zhi Liu;
Weipeng Wang;
Han Rong;
Bo Wang

Publication type:

Article

Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicism.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0249-5

By:

Grzesiuk, Juliana Dourado;
Pereira, Ciro Silveira;
Paiva Grangeiro, Carlos Henrique;
Picanço-Albuquerque, Clarissa Gondim;
Oliveira-Gennaro, Flávia Gaona;
Machado, Filipe Brum;
Medina-Acosta, Enrique;
Ramos, Ester Silveira;
Maisa Yoshimoto;
Martelli, Lucia

Publication type:

Article

Application of a modified drop method for high-resolution pachytene chromosome spreads in two Phalaenopsis species.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0254-8

By:

Yi-Tzu Kuo;
Hui-Lan Hsu;
Chih-Hsin Yeh;
Song-Bin Chang

Publication type:

Article

Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0253-9

By:

Srebniak, Malgorzata I.;
van Zutven, Laura J. C. M.;
Petit, Florence;
Bouquillon, Sonia;
van Heel, Ilse P. J.;
Knapen, Maarten F. C. M.;
Cornette, Jerome M. J.;
Kremer, Andreas;
Van Opstal, Diane;
Diderich, Karin E. M.

Publication type:

Article

A marker chromosome in post-transplant bone marrow.

Published in:

2016

By:

Morsberger, Laura;
Powell, Kerry;
Yi Ning

Publication type:

Letter to the Editor

A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features.

Published in:

2016

By:

Bobo Xie;
Xin Fan;
Yaqin Lei;
Rongyu Chen;
Jin Wang;
Chunyun Fu;
Shang Yi;
Jingsi Luo;
Shujie Zhang;
Qi Yang;
Shaoke Chen;
Yiping Shen

Publication type:

Case Study