Works matching IS 17558166 AND DT 2021 AND VI 14 AND IP 1

Results: 58

Correction to: CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NFIA genes.

Published in:

2021

By:

Coci, Emanuele G.;
Koehler, Udo;
Liehr, Thomas;
Stelzner, Armin;
Fink, Christian;
Langen, Hendrik;
Riedel, Joachim

Publication type:

Correction Notice

Chinese hamster ovary cell line DXB-11: chromosomal instability and karyotype heterogeneity.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00528-3

By:

Turilova, Victoria I.;
Goryachaya, Tatyana S.;
Yakovleva, Tatiana K.

Publication type:

Article

Mixed phenotype acute leukemia with PML-RARα positive: a case report and literature review.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00530-9

By:

Zheng, Xiaolong;
Shen, Huafei;
Zhu, Mingyu;
Shi, Yuanfei;
Wang, Huanping;
Chen, Zhimei;
Huang, Xin;
Wang, Yungui;
Jin, Jie;
Xie, Wanzhuo

Publication type:

Article

Bi-allelic amplification of ATM gene in blastoid variant of mantle cell lymphoma: a novel mechanism of inactivation due to chromoanagenesis?

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-020-00526-x

By:

Ortega, Veronica;
Mendiola, Christina;
Rodriguez, Juana;
Ehman, William;
Qian, You-Wen;
Velagaleti, Gopalrao

Publication type:

Article

Cytogenomic characteristics of murine breast cancer cell line JC.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-020-00524-z

By:

Azawi, Shaymaa;
Rincic, Martina;
Liehr, Thomas

Publication type:

Article

Philadelphia chromosome positive chronic myeloid leukemia with 5q deletion at diagnosis.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00539-0

By:

Haidary, Ahmed Maseh;
Ahmed, Zeeshan Ansar;
Abdul-Ghafar, Jamshid;
Rahmani, Soma;
Noor, Sarah;
Erfani, Farahnaz;
Ahmad, Maryam;
Lakanwall, Naeem;
Malakzai, Haider Ali;
Ibrahimkhil, Abdul Sami;
Esmat, Esmatullah;
Haidari, Mujtaba;
Yousufzai, Nimattullah;
Sharif, Samuel;
Saqib, Abdul Hadi

Publication type:

Article

Turner's syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00529-2

By:

Vorsanova, Svetlana G.;
Kolotii, Alexey D.;
Kurinnaia, Oksana S.;
Kravets, Victor S.;
Demidova, Irina A.;
Soloviev, Ilya V.;
Yurov, Yuri B.;
Iourov, Ivan Y.

Publication type:

Article

Molecular cytogenetic characterization and fusarium head blight resistance of five wheat-Thinopyrum intermedium partial amphiploids.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00536-3

By:

Wang, Hui;
Cheng, Shuwei;
Shi, Yue;
Zhang, Shuxin;
Yan, Wei;
Song, Weifu;
Yang, Xuefeng;
Song, Qingjie;
Jang, Bo;
Qi, Xiaoyue;
Li, Xinling;
Friebe, Bernd;
Zhang, Yanming

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

Small supernumerary marker chromosomes derived from chromosome 14 and/or 22.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00533-6

By:

Liehr, Thomas;
Williams, Heather E.;
Ziegler, Monika;
Kankel, Stefanie;
Padutsch, Niklas;
Al-Rikabi, Ahmed

Publication type:

Article

Disorders of sex development in Wolf–Hirschhorn syndrome: a genotype–phenotype correlation and MSX1 as candidate gene.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00531-8

By:

Rjiba, Khouloud;
Ayech, Hédia;
Kraiem, Olfa;
Slimani, Wafa;
Jelloul, Afef;
Ben Hadj Hmida, Imen;
Mahdhaoui, Nabiha;
Saad, Ali;
Mougou-Zerelli, Soumaya

Publication type:

Article

Molecular characterization of a complex small supernumerary marker chromosome derived from chromosome 18p: an addition to the literature.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-020-00519-w

By:

Marchina, Eleonora;
Forti, Michela;
Tonelli, Mariella;
Maccarini, Stefania;
Malvestiti, Francesca;
Piantoni, Chiara;
Filippini, Elena;
Fazzi, Elisa;
Borsani, Giuseppe

Publication type:

Article

Prenatal detection and molecular cytogenetic characterization of 19q13.42 microduplication: three reported cases and literature review.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-020-00527-w

By:

Zhang, Xinyue;
Yue, Fagui;
Shi, Qingyang;
Jiang, Yuting;
He, Jing;
Li, Leilei;
Liu, Ruizhi

Publication type:

Article

Patient-friendly integrated first trimester screening by NIPT and fetal anomaly scan.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-020-00525-y

By:

Srebniak, Malgorzata Ilona;
Knapen, Maarten F. C. M.;
Joosten, Marieke;
Diderich, Karin E. M.;
Galjaard, Sander;
Van Opstal, Diane

Publication type:

Article

Chromosome Y as a marker for sex discrepancies in patients with organ transplants: a case report.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-020-00523-0

By:

Balaguer, Nuria;
Mateu-Brull, Emilia;
Naja, Roy P.;
Nagi, Jara B.;
Milán, Miguel

Publication type:

Article

Which prognostic marker is responsible for the clinical heterogeneity in CLL with 13q deletion?

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-020-00522-1

By:

Durak Aras, Beyhan;
Isik, Sevgi;
Uskudar Teke, Hava;
Aslan, Abdulvahap;
Yavasoglu, Filiz;
Gulbas, Zafer;
Demirkan, Fatih;
Ozen, Hulya;
Cilingir, Oguz;
Inci, Nur Sena;
Gunden, Gulcin;
Bulduk, Tuba;
Erzurumluoglu Gokalp, Ebru;
Kocagil, Sinem;
Artan, Sevilhan;
Akay, Olga Meltem

Publication type:

Article

Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-020-00521-2

By:

Lu, Xinran;
Wang, Chaohong;
Sun, Yuxiu;
Tang, Junxiang;
Tong, Keting;
Zhu, Jiansheng

Publication type:

Article

MEIS2 (15q14) gene deletions in siblings with mild developmental phenotypes and bifid uvula: documentation of mosaicism in an unaffected parent.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00570-1

By:

Zhang, Bin;
Liu, Michel;
Fong, Chin-To;
Iqbal, M. Anwar

Publication type:

Article

Molecular and phenotypic characteristics of 15q24 microdeletion in pediatric patients with developmental disorders.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00574-x

By:

Zhang, Yuanyuan;
Liu, Xiaoliang;
Gao, Haiming;
Cui, Wanting;
Zhang, Bijun;
Zhao, Yanyan

Publication type:

Article

Comprehensive analysis of early pregnancy loss based on cytogenetic findings from a tertiary referral center.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00577-8

By:

Wu, Xiaoqing;
Su, Linjuan;
Xie, Xiaorui;
He, Deqin;
Chen, Xuemei;
Wang, Meiying;
Wang, Linshuo;
Zheng, Lin;
Xu, Liangpu

Publication type:

Article

De novo balanced reciprocal translocation mosaic t(1;3)(q42;q25) detected by prenatal genetic diagnosis: a fetus conceived using preimplantation genetic testing due to a t(12;14)(q22;q13) balanced paternal reciprocal translocation.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00576-9

By:

Zhang, Shaoqin;
Zhu, Jianjiang;
Qi, Hong;
Xu, Limei;
Cai, Lirong;
Meng, Ran

Publication type:

Article

The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00575-w

By:

Khan, Abdul Waheed;
Kennedy, Alyssa;
Furutani, Elissa;
Myers, Kasiani;
Frattini, Annalisa;
Acquati, Francesco;
Roccia, Pamela;
Micheloni, Giovanni;
Minelli, Antonella;
Porta, Giovanni;
Cipolli, Marco;
Cesaro, Simone;
Danesino, Cesare;
Pasquali, Francesco;
Shimamura, Akiko;
Valli, Roberto

Publication type:

Article

Prenatal diagnosis of a 4.5-Mb deletion at chromosome 4q35.1q35.2: Case report and literature review.

Published in:

2021

By:

Xiao, Gefei;
Qiu, Xianrong;
Zhou, Yuqiu;
Tan, Gongjun;
Shen, Yao

Publication type:

Case Study

The genetic analysis of Chinese patients with clonal cytopenias using targeted next-generation sequencing.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00572-z

By:

Zhang, Lijuan;
Shi, YuYe;
Chen, Yue;
Tao, Shandong;
Shi, Wenting;
He, Zhengmei;
Chen, Kankan;
Wang, Chunling;
Yu, Liang

Publication type:

Article

Germline 3p22.1 microdeletion encompassing RPSA gene is an ultra-rare cause of isolated asplenia.

Published in:

2021

By:

Oszer, Aleksandra;
Bąbol-Pokora, Katarzyna;
Kołtan, Sylwia;
Pastorczak, Agata;
Młynarski, Wojciech

Publication type:

Case Study

Prenatal diagnosis of complete paternal uniparental isodisomy for chromosome 3: a case report.

Published in:

2021

By:

Bu, Xiufen;
Li, Xu;
Zhou, Shihao;
Shi, Liangcheng;
Jiang, Xuanyu;
Peng, Can;
Li, Hongyu;
He, Jun

Publication type:

Case Study

Differentially accessible, single copy sequences form contiguous domains along metaphase chromosomes that are conserved among multiple tissues.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00567-w

By:

Hill, Seana L.;
Rogan, Peter K.;
Wang, Yi Xuan;
Knoll, Joan H. M.

Publication type:

Article

Allelic and dosage effects of NHS in X-linked cataract and Nance–Horan syndrome: a family study and literature review.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00566-x

By:

Miller, Caroline;
Gertsen, Benjamin G.;
Schroeder, Audrey L.;
Fong, Chin-To;
Iqbal, M. Anwar;
Zhang, Bin

Publication type:

Article

A rare familial rearrangement of chromosomes 9 and 15 associated with intellectual disability: a clinical and molecular study.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00565-y

By:

Lemskaya, Natalya A.;
Romanenko, Svetlana A.;
Rezakova, Mariia A.;
Filimonova, Elena A.;
Prokopov, Dmitry Yu.;
Dolskiy, Alexander A.;
Perelman, Polina L.;
Maksimova, Yulia V.;
Shorina, Asia R.;
Yudkin, Dmitry V.

Publication type:

Article

Cytogenetic and molecular analysis of distal 4q duplication with distinctive phenotype using single-nucleotide polymorphism array.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00568-9

By:

Zhuang, Jianlong;
Zhang, Na;
Fu, Wanyu;
Yao, Jianfeng;
Li, Yanqing;
Zeng, Shuhong;
Wang, Yuanbai;
Xie, Yingjun;
Jiang, Yuying

Publication type:

Article

Comprehensive analysis of mutations and clonal evolution patterns in a cohort of patients with cytogenetically normal acute myeloid leukemia.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00561-2

By:

Mat Yusoff, Yuslina;
Ahid, Fadly;
Abu Seman, Zahidah;
Abdullah, Julia;
Kamaluddin, Nor Rizan;
Esa, Ezalia;
Zakaria, Zubaidah

Publication type:

Article

Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00559-w

By:

Peng, Haishan;
Yang, Jiexia;
Wang, Dongmei;
Guo, Fangfang;
Hou, Yaping;
Yin, Aihua

Publication type:

Article

Cytogenomic characterization of a de novo 4q34.1 deletion in a girl with mild dysmorphic features and a coagulation disorder.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00564-z

By:

Meza-Espinoza, Juan Pablo;
Contreras-Gutiérrez, José Alfredo;
Arámbula-Meraz, Eliakym;
González-García, Juan Ramón;
Domínguez-Quezada, Ma. Guadalupe;
García-Magallanes, Noemí;
Madueña-Molina, Jesús;
Benítez-Pascual, Julio;
Partida-Pérez, Miriam;
Picos-Cárdenas, Verónica Judith

Publication type:

Article

Myelodysplastic syndrome presenting with central diabetes insipidus is associated with monosomy 7, visible or hidden: report of two cases and literature review.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00563-0

By:

Yang, Yunfan;
Lin, Ting;
Dong, Tian;
Wu, Yu

Publication type:

Article

A new case of 17p13.3p13.1 microduplication resulted from unbalanced translocation: clinical and molecular cytogenetic characterization.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00562-1

By:

Markova, Zhanna G.;
Minzhenkova, Marina E.;
Bessonova, Lyudmila A.;
Shilova, Nadezda V.

Publication type:

Article

Placing women in Cytogenetics: Lore Zech and the chromosome banding technique.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00560-3

By:

Söhner, Felicitas;
Hansson, Nils

Publication type:

Article

Partial deletion of chromosome 6p causing developmental delay and mild dysmorphisms in a child: molecular and developmental investigation and literature search.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00557-y

By:

Vrachnis, Nikolaos;
Papoulidis, Ioannis;
Vrachnis, Dionysios;
Siomou, Elisavet;
Antonakopoulos, Nikolaos;
Oikonomou, Stavroula;
Zygouris, Dimitrios;
Loukas, Nikolaos;
Iliodromiti, Zoi;
Pavlidou, Efterpi;
Thomaidis, Loretta;
Manolakos, Emmanouil

Publication type:

Article

Clinical significance and mechanisms associated with segmental UPD.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00555-0

By:

Papenhausen, Peter R.;
Kelly, Carla A.;
Harris, Samuel;
Caldwell, Samantha;
Schwartz, Stuart;
Penton, Andrea

Publication type:

Article

Copy neutral absence of heterozygosity on chromosome 15 distal long arm: A surrogate marker for Prader–Willi/Angelman syndromes?

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00558-x

By:

Ortega, Veronica;
Louie, Raymond J.;
Jones, Melanie A.;
Chaubey, Alka;
DuPont, Barbara R.;
Britt, Allison;
Ray, Joseph;
McLean, Scott D.;
Littlejohn, Rebecca O.;
Velagaleti, Gopalrao

Publication type:

Article

Terminal 10q26.12 deletion is associated with neonatal asymmetric crying facies syndrome: a case report and literature review.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00554-1

By:

Li, Qinghong;
Sun, Chunmei;
Guo, Jinzhen;
Zhai, Wen;
Zhang, Liping

Publication type:

Article

A Turner syndrome case associated with dic(Y;22).

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00556-z

By:

Kawamura, Rie;
Inagaki, Hidehito;
Yamada, Midori;
Suzuki, Fumihiko;
Naru, Yuki;
Kurahashi, Hiroki

Publication type:

Article

Inherited unbalanced translocation (4p16.3p15.32 duplication/8p23.3p23.2deletion) in the four generation pedigree with intellectual disability/developmental delay.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00552-3

By:

Hao, Dongmei;
Li, Yajuan;
Chen, Lisha;
Wang, Xiliang;
Wang, Mengxing;
Yu, Yuexin

Publication type:

Article

The pattern of gene copy number alteration (CNAs) in hepatocellular carcinoma: an in silico analysis.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00553-2

By:

Shahrisa, Arman;
Tahmasebi-Birgani, Maryam;
Ansari, Hossein;
Mohammadi, Zahra;
Carloni, Vinicio;
Mohammadi Asl, Javad

Publication type:

Article

Performance of non-invasive prenatal testing for foetal chromosomal abnormalities in 1048 twin pregnancies.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00551-4

By:

Cheng, Yuan;
Lu, Xinran;
Tang, Junxiang;
Li, Jingran;
Sun, Yuxiu;
Wang, Chaohong;
Zhu, Jiansheng

Publication type:

Article

Clinical application of noninvasive prenatal testing in the detection of fetal chromosomal diseases.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00550-5

By:

Pang, Yu;
Wang, Chaohong;
Tang, Junxiang;
Zhu, Jiansheng

Publication type:

Article

Discordant structural chromosomal aberrations in chorionic villi and amniotic fluid leading to a formation of an isochromosome 21: a case report.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00549-y

By:

Westenius, Eini;
Pettersson, Maria;
Björck, Erik

Publication type:

Article

Clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00546-1

By:

Shao, Qiao-Yan;
Wu, Pei-Lin;
Lin, Bi-Yun;
Chen, Sen-Jing;
Liu, Jian;
Chen, Su-Qing

Publication type:

Article

Complex rearrangement in acute myeloid leukemia M2 with RUNX1/RUNX1T1 fusion involving chromosomes 8, 17 and 21.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00541-6

By:

Mishra, Shiba Ranjan;
Rawal, Leena;
Othman, Moneeb A. K.;
Thatai, Atul;
Sarkar, Aditi;
Lal, Vandana;
Bhattacharya, Saurabh Kumar

Publication type:

Article

Cytogenetic and mutational analysis and outcome assessment of a cohort of 284 children with de novo acute myeloid leukemia reveal complex karyotype as an adverse risk factor for inferior survival.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00547-0

By:

Chen, Xi;
Wang, Xingjuan;
Dou, Hu;
Yang, Zhenzhen;
Bi, Junqin;
Huang, Yi;
Lu, Ling;
Yu, Jie;
Bao, Liming

Publication type:

Article

Mosaic duplication of 8q24.1q24.3 detected by chromosomal microarray but not karyotyping in two unrelated fetuses with cardiac defects.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00544-3

By:

Lin, Shaobin;
Huang, Shufang;
Ou, Xueling;
Gu, Heng;
Wang, Yonghua;
Li, Ping;
Zhou, Yi

Publication type:

Article