Works matching IS 17558166 AND DT 2020 AND VI 13 AND IP 1

Results: 51

Confined placental mosaicism of Duchenne muscular dystrophy: a case report.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00520-3

By:

Winerdal, Max;
Westenius, Eini;
Granfors, Michaela;
Pettersson, Maria;
Iwarsson, Erik

Publication type:

Article

Detailed molecular cytogenetic characterisation of the myeloid cell line U937 reveals the fate of homologous chromosomes and shows that centromere capture is a feature of genome instability.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00517-y

By:

MacKinnon, Ruth N.;
Peverall, Joanne;
Campbell, Lynda J.;
Wall, Meaghan

Publication type:

Article

Gross genetic alterations and genetic heterogeneity in a periductal stromal tumor of the breast.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13039-020-00516-z

By:

Holzmann, Carsten;
Helmke, Burkhard;
Bullerdiek, Joern

Publication type:

Article

Identification and characterization of satellite DNAs in Poa L.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13039-020-00518-x

By:

Wei, Linna;
Liu, Bo;
Zhang, Chunping;
Yu, Yang;
Yang, Xiaoxia;
Dou, Quanwen;
Dong, Quanmin

Publication type:

Article

A rare cardiac phenotype of dextrocardia observed in a fetus with 1p36 deletion syndrome and a balanced translocation: a prenatal case report.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13039-020-00514-1

By:

Gao, Li;
Zhang, Junyu;
Han, Xu;
Hu, Wenjing;
Sun, Jinling;
Tan, Yuru;
Zhao, Xinrong;
Hua, Renyi;
Wang, Shan;
Zhang, Yan;
Wang, Yanlin;
Wu, Yi

Publication type:

Article

Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00515-0

By:

Leone, Paola E.;
Yumiceba, Verónica;
Jijón-Vergara, Ariana;
Pérez-Villa, Andy;
Armendáriz-Castillo, Isaac;
García-Cárdenas, Jennyfer M.;
Guerrero, Santiago;
Guevara-Ramírez, Patricia;
López-Cortés, Andrés;
Zambrano, Ana K.;
Hernández-Rivas, Jesús M.;
García, Juan Luis;
Paz-y-Miño, César

Publication type:

Article

De novo mosaic and partial monosomy of chromosome 21 in a case with superior vena cava duplication.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13039-020-00513-2

By:

Azad, Abul Kalam;
Yanakakis, Lindsay;
Issleb, Samantha;
Turina, Jessica;
Drabik, Kelli;
Bonner, Christina;
Simi, Eve;
Wagner, Andrew;
Fiddler, Morry;
Naeem, Rizwan

Publication type:

Article

A new childhood ALL case with an extremely complex karyotype and acute spontaneous tumor lysis syndrome.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13039-020-00512-3

By:

Wafa, Abdulsamad;
Jarjour, Rami A.;
Alolabi, Doaa;
Liehr, Thomas;
Hamdan, Othman;
Melo, Joana B.;
Carreira, Isabel M.;
Othman, Moneeb A. K.;
Al-Achkar, Walid

Publication type:

Article

Cytogenomic characterization of three murine malignant mesothelioma tumor cell lines.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13039-020-00511-4

By:

Wahlbuhl, Eva;
Liehr, Thomas;
Rincic, Martina;
Azawi, Shaymaa

Publication type:

Article

Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13039-020-00510-5

By:

Yokoyama, Emiy;
Villarroel, Camilo E.;
Diaz, Sinhué;
Del Castillo, Victoria;
Pérez-Vera, Patricia;
Salas, Consuelo;
Gómez, Samuel;
Barreda, Reneé;
Molina, Bertha;
Frias, Sara

Publication type:

Article

Sole trisomy 6 an uncommon finding in pediatric acute myeloid leukemia, probably associated to bad prognosis.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13039-020-00509-y

By:

Brukman-Jimenez, Sinhue Alejandro;
Bobadilla-Morales, Lucina;
Corona-Rivera, Jorge Román;
Chávez-Panduro, Pablo Alejandro;
Ortega-de-la-Torre, Citlalli;
Santana-Bejarano, Uriel Francisco;
Torres-Anguiano, Elizabeth;
Mendoza-Maldonado, Lucero;
Sánchez-Zubieta, Fernando Antonio;
Corona-Rivera, Alfredo

Publication type:

Article

Diagnosis of FOXG1 syndrome caused by recurrent balanced chromosomal rearrangements: case study and literature review.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13039-020-00506-1

By:

Craig, Connor P.;
Calamaro, Emily;
Fong, Chin-To;
Iqbal, Anwar M.;
Paciorkowski, Alexander R.;
Zhang, Bin

Publication type:

Article

Application value of NIPT for uncommon fetal chromosomal abnormalities.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13039-020-00508-z

By:

Yin, Lianli;
Tang, Yinghua;
Lu, Qing;
Pan, Aiping;
Shi, Mingfang

Publication type:

Article

Two rare cases of acute myeloid leukemia with t(8;16)(p11.2;p13.3) and 1q duplication: case presentation and literature review.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13039-020-00507-0

By:

Liu, Meng;
Ren, Yuan;
Wang, Xianfu;
Lu, Xianglan;
Li, Ming;
Kim, Young Mi;
Li, Shibo;
Zhang, Lijun

Publication type:

Article

Prenatal diagnosis of mosaic trisomy 2 and literature review.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13039-020-00504-3

By:

Wang, Ting;
Lian, Jufei;
Ren, Congmian;
Huang, Huamei;
Huang, Yanlin;
Xu, Ling;
Zheng, Laiping;
Cai, Chanhui;
Guo, Li

Publication type:

Article

Clinical application of chromosomal microarray analysis for fetuses with craniofacial malformations.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13039-020-00502-5

By:

Xu, Chenyang;
Xiang, Yanbao;
Xu, Xueqin;
Zhou, Lili;
Li, Huanzheng;
Dong, Xueqin;
Tang, Shaohua

Publication type:

Article

Chromosomal instability associated with adverse outcome: a case report of patient with Nijmegen breakage syndrome and rapidly developed T-NHL with complex karyotype.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13039-020-00505-2

By:

Włodarczyk, Monika;
Lejman, Monika

Publication type:

Article

Coexistence of recurrent chromosomal abnormalities and the Philadelphia chromosome in acute and chronic myeloid leukemias: report of five cases and review of literature.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13039-020-00501-6

By:

Gong, Jin-Ying;
Zhang, Zhen-Hao;
Zhang, Wei;
Wang, Hui-Jun;
Feng, Xiao-Fang;
Zhou, Ji;
Zhu, Guo-Qing

Publication type:

Article

Novel FANCA mutation in the first fully-diagnosed patient with Fanconi anemia in Polish population – case report.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00503-4

By:

Repczynska, Anna;
Pastorczak, Agata;
Babol-Pokora, Katarzyna;
Skalska-Sadowska, Jolanta;
Drozniewska, Malgorzata;
Mlynarski, Wojciech;
Haus, Olga

Publication type:

Article

Mapping epigenetic modifications on chicken lampbrush chromosomes.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00496-0

By:

Kulikova, Tatiana;
Surkova, Anna;
Zlotina, Anna;
Krasikova, Alla

Publication type:

Article

13q deletion syndrome resulting from balanced chromosomal rearrangement in father: the significance of parental karyotyping.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00500-7

By:

Dittner-Moormann, Sabine;
Reschke, Madlen;
Biewald, Eva;
Kuechler, Alma;
Klein, Barbara;
Timmermann, Beate;
Lohmann, Dietmar;
Ketteler, Petra;
Kanber, Deniz

Publication type:

Article

Genotype-phenotype correlation in 75 patients with small supernumerary marker chromosomes.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00494-2

By:

Li, Tingting;
Sang, Haiquan;
Chu, Guoming;
Zhang, Yuanyuan;
Qi, Manlong;
Liu, Xiaoliang;
Cui, Wanting;
Zhao, Yanyan

Publication type:

Article

An acquired stable variant of a dicentric dic(9;20) and complex karyotype in a Syrian childhood B-acute lymphoblastic leukemia case.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00499-x

By:

Wafa, Abdulsamad;
Jarjour, Rami A.;
Aljapawe, Abdulmunim;
ALmedania, Suher;
Liehr, Thomas;
Melo, Joana B.;
Carreira, Isabel M.;
Othman, Moneeb A. K.;
Al-Achkar, Walid

Publication type:

Article

Prenatal diagnosis of rearrangements in the fetal 22q11.2 region.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00498-y

By:

Li, Suping;
Jin, Yuxia;
Yang, Jing;
Yang, Li;
Tang, Ping;
Zhou, Chiyan;
Wu, Liping;
Dong, Jinhua;
Chen, Jie;
Shen, Huaxiang

Publication type:

Article

Does ICSI for in vitro fertilization cause more aneuploid embryos?

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00497-z

By:

Niu, Xiangli;
Long, Jiamin;
Gong, Fangqiang;
Wang, Weihua

Publication type:

Article

Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33; p15) in three adverse pregnancies.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00492-4

By:

Zhang, Jingbo;
Zhang, Bei;
Liu, Tong;
Xie, Huihui;
Zhai, Jingfang

Publication type:

Article

Identifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysis.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00491-5

By:

Batista-Gomes, Jéssica Almeida;
Mello, Fernando Augusto Rodrigues;
de Oliveira, Edivaldo Herculano Corrêa;
de Souza, Michel Platini Caldas;
Wanderley, Alayde Vieira;
da Costa Pantoja, Laudreisa;
dos Santos, Ney Pereira Carneiro;
Khayat, Bruna Cláudia Meireles;
Khayat, André Salim

Publication type:

Article

Identification of a novel deletion mutation in DPY19L2 from an infertile patient with globozoospermia: a case report.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00495-1

By:

Li, You-zhu;
Wu, Rong-feng;
Zhu, Xing-shen;
Liu, Wen-sheng;
Ye, Yuan-yuan;
Lu, Zhong-xian;
Li, Na

Publication type:

Article

Inherited duplication of the pseudoautosomal region Xq28 in a subject with Gilles de la Tourette syndrome and intellectual disability: a case report.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00493-3

By:

Maccarini, Stefania;
Cipani, Annamaria;
Bertini, Valeria;
Skripac, Jelena;
Salvi, Alessandro;
Borsani, Giuseppe;
Marchina, Eleonora

Publication type:

Article

Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00490-6

By:

Bonaglia, Maria Clara;
Bertuzzo, Sara;
Ciaschini, Anna Maria;
Discepoli, Giancarlo;
Castiglia, Lucia;
Romaniello, Romina;
Zuffardi, Orsetta;
Fichera, Marco

Publication type:

Article

Rare partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00489-z

By:

Lu, Yinghong;
Liang, Yi;
Ning, Sisi;
Deng, Guosheng;
Xie, Yuling;
Song, Jujie;
Zuo, Na;
Feng, Chunfeng;
Qin, Yunrong

Publication type:

Article

A chromosome 1q22 microdeletion including ASH1L is associated with intellectual disability in a Chinese family.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00483-5

By:

Xi, Hui;
Peng, Ying;
Xie, Wanqin;
Pang, Jialun;
Ma, Na;
Yang, Shuting;
Peng, Jinping;
Wang, Hua

Publication type:

Article

Molecular delineation of small supernumerary marker chromosomes using a single nucleotide polymorphism array.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00486-2

By:

Zhou, Lili;
Zheng, Zhaoke;
Wu, Lianpeng;
Xu, Chenyang;
Wu, Hao;
Xu, Xueqin;
Tang, Shaohua

Publication type:

Article

Potential influence of parental copy number variations on noninvasive prenatal testing (NIPT): two case reports.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00485-3

By:

Qi, Yiming;
Yang, Jiexia;
Hou, Yaping;
Hu, Rong;
Wang, Dongmei;
Peng, Haishan;
Yin, Aihua

Publication type:

Article

Report of trisomy 2q34-qter and monosomy 4q35.2-qter in a child with mild dysmorphic syndrome and karyotype 46,XY,der(4)t(2;4)(q34;q35.2)pat.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00484-4

By:

Meza-Espinoza, Juan Pablo;
Sáinz González, Enrique;
León-León, Christian J. N.;
Arámbula-Meraz, Eliakym;
Contreras-Gutiérrez, José Alfredo;
García-Magallanes, Noemí;
Madueña-Molina, Jesús;
Luque-Ortega, Fred;
Cervín-Serrano, Salvador;
Picos-Cárdenas, Verónica Judith

Publication type:

Article

Dynamic nature of somatic chromosomal mosaicism, genetic-environmental interactions and therapeutic opportunities in disease and aging.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00488-0

By:

Vorsanova, Svetlana G.;
Yurov, Yuri B.;
Iourov, Ivan Y.

Publication type:

Article

Whole-genome mate-pair sequencing of apparently balanced chromosome rearrangements reveals complex structural variations: two case studies.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00487-1

By:

Tan, Ya-Qi;
Tan, Yue-Qiu;
Cheng, De-Hua

Publication type:

Article

Double Robertsonian translocations in an infertile patient with macrocytic anemia: a case report.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00482-6

By:

Sasi, Ramakrishnan;
Senft, Jamie;
Spruill, Michelle;
Rej, Soham;
Perrotta, Peter L.

Publication type:

Article

Prenatal diagnosis of a maternal 7.22-Mb deletion at chromosome 4q32.2q32.3 by SNP array.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00480-8

By:

Zhang, Pingping;
Sun, Yanmei;
Huo, Ping;
Tian, Haishen;
Gao, Jian;
Li, Yali

Publication type:

Article

A rare case of acute promyelocytic leukemia with ider(17)(q10)t(15;17)(q22;q21) and favorable outcome.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00479-1

By:

Liu, Yongming;
Xu, Junqing;
Chu, Lina;
Yu, Limei;
Zhang, Yanhong;
Ma, Li;
Wang, Weihua;
Zhang, Yangyang;
Xu, Yimin;
Liu, Riming

Publication type:

Article

Copy number variations associated with fetal congenital kidney malformations.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00481-7

By:

Cai, Meiying;
Lin, Na;
Su, Linjuan;
Wu, Xiaoqing;
Xie, Xiaorui;
Li, Ying;
Chen, Xuemei;
Lin, Yuan;
Huang, Hailong;
Xu, Liangpu

Publication type:

Article

Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-0478-5

By:

Wang, Yipeng;
Li, Shanshan;
Wang, Wei;
Dong, Yuan;
Zhang, Meng;
Wang, Xin;
Yin, Chenghong

Publication type:

Article

Non-invasive prenatal screening for Emanuel syndrome.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-0476-7

By:

Luo, Yuqin;
Lin, Jie;
Sun, Yixi;
Qian, Yeqing;
Wang, Liya;
Chen, Min;
Dong, Minyue;
Jin, Fan

Publication type:

Article

Retrospective analysis of the clinical features of 172 patients with BCR-ABL1-negative chronic myeloproliferative neoplasms.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-0471-z

By:

Lin, Xiaolan;
Huang, Huifang;
Chen, Ping

Publication type:

Article

Prenatal genetic analysis and differential pregnancy outcomes of two de novo cases showing mosaic isodicentric Y chromosome.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-0472-y

By:

He, Si;
Xi, Hui;
Chen, Jing;
Wang, Dan;
Pang, Jialun;
Hu, Jiancheng;
Liu, Qin;
Jia, Zhengjun;
Wang, Hua

Publication type:

Article

Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-0473-x

By:

Wu, J. B.;
Sha, J.;
Zhai, J. F.;
Liu, Y.;
Zhang, B.

Publication type:

Article

Non-invasive prenatal test to screen common trisomies in twin pregnancies.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-0475-8

By:

Motevasselian, Mahtab;
Saleh Gargari, Soraya;
Younesi, Sarang;
Pooransari, Parichehr;
Saadati, Pourandokht;
Mirzamoradi, Masoomeh;
Savad, Shahram;
Taheri Amin, Mohammad Mahdi;
Modarresi, Mohammad-Hossein;
Afrakhteh, Maryam;
Ghafouri-Fard, Soudeh

Publication type:

Article

Acute myeloid leukemia with inv(16)(p13.1q22) and deletion of the 5'MYH11/3'CBFB gene fusion: a report of two cases and literature review.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-0474-9

By:

Lv, Lili;
Yu, Jingwei;
Qi, Zhongxia

Publication type:

Article

Chromoanagenesis: a piece of the macroevolution scenario.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-0470-0

By:

Pellestor, Franck;
Gatinois, Vincent

Publication type:

Article

Cytogenetic analysis of 3387 umbilical cord blood in pregnant women at high risk for chromosomal abnormalities.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-0469-6

By:

Sun, Yanmei;
Zhang, Pingping;
Zhang, Ning;
Rong, Limin;
Yu, Xiaoping;
Huang, Xianghua;
Li, Yali

Publication type:

Article